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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POMGNT1_chr1_46183683_46203434 | 46202920 | G | GGGTGGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 406 | 0.0025 | 22 | c.-46 others(33): Show |
POMGNT1 | ENSG00000085998.15 | transcript | ENST00000371984.8 | protein_coding | 4487 | chr1 | TogoVar | |||||||
POMGNT2_chr3_43074234_43111079 | 43102990 | C | CAGCTGTG others(15): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 378 | 0.0027 | 22 | c.-10 others(41): Show |
POMGNT2 | ENSG00000144647.7 | transcript | ENST00000344697.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76615973 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02683.hp2 HG03041.hp1 others(1): Show |
a0002a0004a0006 | a0002c0002a0004c0004a0006c0006 | a0002c0002t0003a0004c0004t0003a0006c0006t0003 | a0002c0002t0003g0185 a0004c0004t0003g0187 a0004c0004t0003g0192 others(1): Show |
4 | 423 | 0.0095 | 22 | c.345 others(39): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76620861 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0085 | 1 | 423 | 0.0024 | 22 | c.228 others(39): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
PON1_chr7_95292676_95329532 | 95302096 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 434 | 0.0023 | 22 | c.909 others(36): Show |
PON1 | ENSG00000005421.9 | transcript | ENST00000222381.8 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
PON2_chr7_95399862_95440028 | 95417690 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 398 | 0.0025 | 22 | c.146 others(39): Show |
PON2 | ENSG00000105854.13 | transcript | ENST00000222572.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
PON2_chr7_95399862_95440028 | 95417716 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG01943.hp1 NA19074.hp1 NA19082.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0037 a0002c0002t0002g0086 |
3 | 398 | 0.0075 | 22 | c.146 others(39): Show |
PON2 | ENSG00000105854.13 | transcript | ENST00000222572.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
PON3_chr7_95354872_95401375 | 95399886 | A | AGCCAATA others(15): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 372 | 0.0027 | 22 | c.-35 others(33): Show |
PON3 | ENSG00000105852.11 | transcript | ENST00000265627.10 | protein_coding | 3512 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710266 | G | GTGTGTAT others(15): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00673.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0001 |
29 | 382 | 0.0759 | 22 | c.*30 others(33): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2781 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710266 | G | GTGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG02027.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 382 | 0.0236 | 22 | c.*30 others(33): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2781 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710266 | G | GTGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 22 | c.*30 others(33): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2781 | chr7 | TogoVar | |||||||
POPDC2_chr3_119637056_119665589 | 119640962 | T | TAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01891.hp1 HG01978.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0061 |
3 | 410 | 0.0073 | 22 | c.*16 others(33): Show |
POPDC2 | ENSG00000121577.14 | transcript | ENST00000493094.6 | protein_coding | 1093 | chr3 | TogoVar | |||||||
POPDC2_chr3_119637056_119665589 | 119651626 | C | CCCCCACC others(15): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 410 | 0.0024 | 22 | c.600 others(39): Show |
POPDC2 | ENSG00000121577.14 | transcript | ENST00000493094.6 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988765 | A | AGGCGGGG others(15): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02040.hp2 HG02055.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0091 a0001c0005t0001g0016 a0001c0005t0001g0031 |
3 | 278 | 0.0108 | 22 | c.*22 others(33): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1911 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75989077 | T | TGGAGGGG others(15): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0003a0001c0005a0001c0006 | a0001c0003t0001a0001c0005t0001a0001c0006t0001 | a0001c0003t0001g0275 a0001c0005t0001g0027 a0001c0005t0001g0132 others(1): Show |
4 | 278 | 0.0144 | 22 | c.*25 others(33): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2223 | chr7 | TogoVar | |||||||
POSTN_chr13_37557585_37603768 | 37564181 | C | CTTGTATA others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(35): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0118 others(29): Show |
38 | 416 | 0.0914 | 22 | c.247 others(39): Show |
POSTN | ENSG00000133110.15 | transcript | ENST00000379747.9 | protein_coding | 22/22 | chr13 | TogoVar | |||||||
POT1_chr7_124817386_124934825 | 124817689 | A | ATTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0206 others(21): Show |
24 | 346 | 0.0694 | 22 | c.*62 others(33): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 4696 | chr7 | TogoVar | |||||||
POT1_chr7_124817386_124934825 | 124846162 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02922.hp1 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0099 a0001c0001t0001g0101 a0007c0009t0001g0100 |
3 | 346 | 0.0087 | 22 | c.100 others(39): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
POTEC_chr18_14502339_14548600 | 14516296 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02071.hp2 HG02135.hp2 others(4): Show |
a0001a0005a0013others(1): Show | a0001c0001a0005c0005a0013c0015others(1): Show | a0001c0001t0003a0001c0001t0009a0005c0005t0012others(2): Show | a0001c0001t0003g0057 a0001c0001t0003g0079 a0001c0001t0009g0050 others(4): Show |
7 | 388 | 0.0180 | 22 | c.141 others(41): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
POTEC_chr18_14502339_14548600 | 14516298 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG02257.hp1 others(6): Show |
a0002a0003a0006 | a0002c0002a0003c0007a0006c0009 | a0002c0002t0002a0003c0007t0008a0006c0009t0010 | a0002c0002t0002g0116 a0002c0002t0002g0118 a0002c0002t0002g0119 others(6): Show |
9 | 388 | 0.0232 | 22 | c.141 others(41): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13636992 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01517.hp2 HG03942.hp2 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0004c0005t0002 | a0002c0002t0002g0064 a0002c0002t0002g0068 a0004c0005t0002g0091 |
3 | 416 | 0.0072 | 22 | c.141 others(41): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0009 | a0009c0011 | a0009c0011t0013 | a0009c0011t0013g0226 | 1 | 416 | 0.0024 | 22 | c.*47 others(33): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | |||||||
POTEE_chr2_131204536_131270278 | 131211520 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(46): Show |
a0001a0002a0008others(8): Show | a0001c0001a0002c0005a0008c0013others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(10): Show | a0001c0001t0001g0054 a0001c0001t0001g0092 a0001c0001t0001g0100 others(45): Show |
49 | 288 | 0.1701 | 22 | c.-18 others(39): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POTEE_chr2_131204536_131270278 | 131211520 | C | CTTTGTGT others(15): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 288 | 0.0035 | 22 | c.-18 others(39): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POTEE_chr2_131204536_131270278 | 131255565 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18906.hp1 |
a0006a0019 | a0006c0019a0019c0063 | a0006c0019t0007a0019c0063t0014 | a0006c0019t0007g0010 a0019c0063t0014g0089 |
2 | 288 | 0.0069 | 22 | c.177 others(41): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POU1F1_chr3_87254404_87281584 | 87256623 | T | TGTTTTAA others(15): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01175.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0010 a0001c0001t0001g0073 a0001c0001t0003g0094 |
10 | 420 | 0.0238 | 22 | c.*32 others(33): Show |
POU1F1 | ENSG00000064835.12 | transcript | ENST00000350375.7 | protein_coding | 2780 | chr3 | TogoVar | |||||||
POU2AF2_chr11_111240725_111291401 | 111264576 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG03704.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0002g0259 |
2 | 380 | 0.0053 | 22 | c.120 others(39): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
POU2AF2_chr11_111240725_111291401 | 111276453 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | HG02040.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 a0001c0001t0002g0300 |
2 | 380 | 0.0053 | 22 | c.121 others(39): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F1_chr1_167215886_167432340 | 167429373 | T | TTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01515.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0072 | a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0072g0021 |
3 | 292 | 0.0103 | 22 | c.*13 others(35): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2034 | chr1 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39005484 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG00741.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(8): Show | a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0002g0094 others(16): Show |
19 | 170 | 0.1118 | 22 | c.105 others(41): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39030543 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18955.hp2 NA18964.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0002a0002c0003t0001a0002c0004t0002others(1): Show | a0001c0001t0002g0136 a0001c0001t0002g0161 a0002c0003t0001g0112 others(2): Show |
5 | 170 | 0.0294 | 22 | c.105 others(41): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39068490 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02896.hp1 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0001others(3): Show | a0001c0001t0004g0140 a0001c0001t0009g0158 a0001c0002t0001g0089 others(3): Show |
6 | 170 | 0.0353 | 22 | c.106 others(41): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39397814 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0008a0001c0005t0001a0002c0004t0002others(1): Show | a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0064 others(4): Show |
7 | 170 | 0.0412 | 22 | c.973 others(39): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PP2D1_chr3_19980346_20017264 | 20012956 | G | GTATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01175.hp2 others(16): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0013 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0141 a0001c0001t0001g0144 others(12): Show |
19 | 396 | 0.0480 | 22 | c.-88 others(31): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 693 | chr3 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70221076 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 408 | 0.0025 | 22 | c.124 others(39): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46146426 | G | GAAGAGAA others(15): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01243.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0057 a0001c0001t0001g0139 a0001c0001t0004g0049 others(6): Show |
9 | 200 | 0.0450 | 22 | c.-44 others(33): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4099 | chr22 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46146427 | A | AAGAGAAG others(15): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0053 a0001c0001t0017g0062 |
2 | 200 | 0.0100 | 22 | c.-44 others(33): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4098 | chr22 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46205554 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 200 | 0.0050 | 22 | c.208 others(39): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35377871 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03195.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0007 | a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 others(2): Show |
5 | 238 | 0.0210 | 22 | c.-10 others(43): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35415778 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03471.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0029 | a0001c0002t0004g0072 a0001c0002t0005g0061 a0001c0002t0029g0062 |
3 | 238 | 0.0126 | 22 | c.131 others(39): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARGC1A_chr4_23787021_23895047 | 23844742 | C | CATAATAT others(15): Show |
intron_variant | MODIFIER | HG02698.hp2 NA18940.hp1 NA18941.hp1 others(2): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0012a0001c0003t0013a0001c0003t0035others(1): Show | a0001c0003t0012g0307 a0001c0003t0013g0306 a0001c0003t0035g0097 others(2): Show |
5 | 342 | 0.0146 | 22 | c.235 others(41): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
PPARGC1A_chr4_23787021_23895047 | 23844786 | A | AATAATAT others(15): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18939.hp1 NA18993.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0012a0001c0003t0013 | a0001c0003t0010g0015 a0001c0003t0010g0266 a0001c0003t0012g0019 others(2): Show |
5 | 342 | 0.0146 | 22 | c.235 others(41): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149750453 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02818.hp2 HG03139.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0008a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0008t0008others(3): Show | a0001c0001t0002g0164 a0001c0001t0003g0044 a0001c0001t0003g0155 others(4): Show |
7 | 320 | 0.0219 | 22 | c.78+ others(39): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149755046 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0013 | a0005c0013t0009 | a0005c0013t0009g0008 | 1 | 320 | 0.0031 | 22 | c.78+ others(39): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149755052 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0128 | 1 | 320 | 0.0031 | 22 | c.78+ others(39): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12406532 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18977.hp1 NA18979.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0132 others(1): Show |
4 | 294 | 0.0136 | 22 | c.729 others(37): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPDPF_chr20_63515765_63527206 | 63522033 | T | TCAACACA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0001 | 1 | 394 | 0.0025 | 22 | c.*15 others(31): Show |
PPDPF | ENSG00000125534.10 | transcript | ENST00000370179.8 | protein_coding | 4/4 | 179 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPEF1_chrX_18702645_18832917 | 18745096 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0053 |
2 | 224 | 0.0089 | 22 | c.236 others(39): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPEF1_chrX_18702645_18832917 | 18821758 | C | CGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 224 | 0.0045 | 22 | c.150 others(41): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75856882 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 HG03831.hp1 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0140 a0001c0001t0001g0188 |
3 | 270 | 0.0111 | 22 | c.*37 others(33): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 2984 | chr4 | TogoVar |