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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLCB1_chr20_8127266_8889900 | 8285014 | G | GTATTTTT others(42): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0106 | 1 | 106 | 0.0094 | 49 | c.178 others(68): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCG2_chr16_81774291_81967685 | 81776079 | C | CTCGTTCT others(42): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0281a0001c0001t0004g0321 | 2 | 330 | 0.0061 | 49 | c.-33 others(60): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 3211 | chr16 | TogoVar | ||||||
PLCL1_chr2_197799593_198154863 | 197922759 | G | GGCTGGCC others(42): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0137 | 1 | 204 | 0.0049 | 49 | c.240 others(70): Show |
PLCL1 | ENSG00000115896.17 | transcript | ENST00000428675.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17035281 | A | ATAACTGT others(42): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02965.hp2 |
a0001 | a0001c0011a0001c0012a0001c0013 | a0001c0011t0001a0001c0012t0001a0001c0013t0001 | a0001c0011t0001g0004a0001c0012t0001g0005a0001c0013t0001g0198 | 3 | 250 | 0.0120 | 49 | c.301 others(68): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 280777 | G | GGGGAGGC others(42): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0079 | 1 | 176 | 0.0057 | 49 | c.-92 others(58): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 603 | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 296880 | T | TCCCACAT others(42): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02257.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0001t0027a0001c0001t0052others(2): Show | a0001c0001t0012g0015a0001c0001t0012g0149a0001c0001t0027g0059others(3): Show | 6 | 176 | 0.0341 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 296931 | T | TCACATGG others(42): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0093 | a0001c0002t0093g0137 | 1 | 176 | 0.0057 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 297225 | T | TCACATGG others(42): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0149 | 1 | 176 | 0.0057 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 297421 | C | CCACATGG others(42): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02615.hp1 others(6): Show |
a0001a0011 | a0001c0003a0001c0010a0011c0016 | a0001c0003t0006a0001c0003t0053a0001c0003t0054others(4): Show | a0001c0003t0006g0041a0001c0003t0006g0042a0001c0003t0006g0114others(6): Show | 9 | 176 | 0.0511 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 297457 | A | ATTATTCT others(42): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0110 | a0001c0002t0110g0129 | 1 | 176 | 0.0057 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 297570 | A | ACATTGGG others(42): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0104 | a0001c0003t0104g0093 | 1 | 176 | 0.0057 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 297602 | C | CCATTATT others(42): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19009.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0027a0001c0003t0055 | a0001c0001t0027g0059a0001c0003t0055g0010 | 2 | 176 | 0.0114 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297749 | C | CCATTATT others(42): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0149 | 1 | 176 | 0.0057 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297766 | A | ACATGGGA others(42): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0107 | a0001c0003t0107g0104 | 1 | 176 | 0.0057 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 297813 | T | TCACATGG others(42): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0133 | 1 | 176 | 0.0057 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298043 | A | ACATTATT others(42): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0149 | 1 | 176 | 0.0057 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298060 | A | ACATGGGA others(42): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0005 | a0002c0005t0106 | a0002c0005t0106g0077 | 1 | 176 | 0.0057 | 49 | c.734 others(66): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298148 | T | TCTGTCTA others(42): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0149 | 1 | 176 | 0.0057 | 49 | c.734 others(64): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298239 | A | ACATTATC others(42): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0074 | 1 | 176 | 0.0057 | 49 | c.734 others(64): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298418 | C | CGTGGACA others(42): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0071 | 1 | 176 | 0.0057 | 49 | c.734 others(64): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298540 | T | TCTGTCTA others(42): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0074 | 1 | 176 | 0.0057 | 49 | c.734 others(64): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150810527 | A | AAAGAAAG others(42): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03195.hp2 |
a0001a0018 | a0001c0026a0018c0057 | a0001c0026t0001a0018c0057t0001 | a0001c0026t0001g0213a0018c0057t0001g0227 | 2 | 272 | 0.0074 | 49 | c.127 others(66): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 135682 | A | AAAAAAAT others(42): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0021 | a0021c0026 | a0021c0026t0060 | a0021c0026t0060g0169 | 1 | 210 | 0.0048 | 49 | c.244 others(66): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG7_chr12_92697989_92777455 | 92728016 | A | AATATATA others(42): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 NA18906.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0005a0002c0003t0014 | a0002c0002t0005g0144a0002c0002t0005g0147a0002c0003t0014g0143 | 3 | 252 | 0.0119 | 49 | c.531 others(64): Show |
PLEKHG7 | ENSG00000187510.11 | transcript | ENST00000344636.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHG7_chr12_92697989_92777455 | 92728020 | T | TATATACA others(42): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02976.hp1 |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0013 | a0003c0004t0005g0225a0003c0004t0013g0226 | 2 | 252 | 0.0079 | 49 | c.531 others(64): Show |
PLEKHG7 | ENSG00000187510.11 | transcript | ENST00000344636.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLIN4_chr19_4497192_4523486 | 4509316 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0020 | a0020c0023 | a0020c0023t0004 | a0020c0023t0004g0075 | 1 | 412 | 0.0024 | 49 | c.351 others(66): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/7 | chr19 | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 282482 | T | TGTGCACC others(42): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02486.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0091a0002c0002t0001g0135 | 6 | 354 | 0.0170 | 49 | c.541 others(64): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 291604 | G | GGAGGGGC others(42): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 354 | 0.0028 | 49 | c.-26 others(58): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 202 | chr19 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557008 | A | AAGAAAGA others(42): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001 | a0001c0001t0007g0306a0001c0002t0001g0303 | 2 | 336 | 0.0060 | 49 | c.140 others(68): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557010 | G | GAAAGAAA others(42): Show |
intron_variant | MODIFIER | HG01433.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0171a0001c0003t0004g0170 | 2 | 336 | 0.0060 | 49 | c.140 others(68): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557010 | G | GAAAGAAA others(42): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0127a0001c0001t0003g0042a0001c0001t0003g0043others(3): Show | 6 | 336 | 0.0179 | 49 | c.140 others(68): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101078154 | A | AGGGGGAG others(42): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 203 | 0.0049 | 49 | c.-46 others(68): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PLVAP_chr19_17346455_17382342 | 17349182 | C | CTTTCTTT others(42): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 436 | 0.0023 | 49 | c.*31 others(60): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2272 | chr19 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 19966393 | T | TAAAATAT others(42): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(20): Show | a0001c0001t0003g0178a0001c0001t0004g0128a0001c0001t0015g0164others(24): Show | 27 | 180 | 0.1500 | 49 | c.113 others(68): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXNA2_chr1_208017242_208249384 | 208246100 | T | TAATTGAT others(42): Show |
upstream_gene_variant | MODIFIER | NA18990.hp2 | a0007 | a0007c0020 | a0007c0020t0001 | a0007c0020t0001g0126 | 1 | 312 | 0.0032 | 49 | c.-25 others(60): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 1717 | chr1 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50307773 | G | GGAGGGGG others(42): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0156 | 1 | 302 | 0.0033 | 49 | c.-29 others(58): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 128 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50307785 | G | GAGGGGGA others(42): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 | 1 | 302 | 0.0033 | 49 | c.-30 others(58): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 140 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594386 | T | TGGGGGAG others(42): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 330 | 0.0030 | 49 | c.-45 others(60): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4547 | chr22 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(42): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0083 | 1 | 408 | 0.0025 | 49 | c.-95 others(58): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998659 | T | TATATTAT others(42): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 2 | 286 | 0.0070 | 49 | c.-49 others(60): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4544 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391402 | C | CACCACAC others(42): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 346 | 0.0029 | 49 | c.*55 others(60): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4236 | chrX | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137466844 | C | CCTCAGAC others(42): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02559.hp1 HG02886.hp2 others(5): Show |
a0001a0002a0008others(2): Show | a0001c0028a0001c0037a0002c0003others(4): Show | a0001c0028t0001a0001c0037t0001a0002c0003t0001others(4): Show | a0001c0028t0001g0170a0001c0037t0001g0183a0002c0003t0001g0052others(5): Show | 8 | 188 | 0.0426 | 49 | c.303 others(66): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 26/34 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137503854 | A | AAAGAAGA others(42): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0091 | 1 | 188 | 0.0053 | 49 | c.147 others(68): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PNPT1_chr2_55629061_55698844 | 55650902 | G | GTCAGCCC others(42): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18946.hp2 NA18984.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0032 | a0003c0003t0004g0098a0003c0003t0004g0102a0003c0003t0004g0103others(3): Show | 6 | 390 | 0.0154 | 49 | c.149 others(68): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 340 | 0.0029 | 49 | c.438 others(64): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75952072 | T | TGGCTGGC others(42): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02129.hp1 HG02148.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0001a0001c0004t0001a0002c0001t0002 | a0001c0002t0001g0136a0001c0004t0001g0178a0002c0001t0002g0105others(4): Show | 7 | 278 | 0.0252 | 49 | c.-13 others(66): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POR_chr7_75910155_75991855 | 75988765 | A | AGAAGGCC others(42): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0051 | 1 | 278 | 0.0036 | 49 | c.*22 others(60): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1911 | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75989077 | T | TGGAGGGG others(42): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 278 | 0.0036 | 49 | c.*25 others(60): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2223 | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39015982 | G | GATATATA others(42): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0137 | 1 | 170 | 0.0059 | 49 | c.105 others(68): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(42): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0070others(32): Show | 36 | 200 | 0.1800 | 49 | c.-12 others(68): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |