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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POTED_chr21_13604777_13650823 | 13637004 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0092 a0004c0005t0002g0111 |
2 | 416 | 0.0048 | 24 | c.141 others(43): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
POTED_chr21_13604777_13650823 | 13637004 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0116 | 1 | 416 | 0.0024 | 24 | c.141 others(43): 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(17): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG02273.hp1 NA18965.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0034 | a0001c0003t0003g0001 a0001c0003t0003g0031 a0001c0003t0003g0122 others(4): Show |
7 | 416 | 0.0168 | 24 | c.*47 others(35): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0009 | a0009c0011 | a0009c0011t0013 | a0009c0011t0013g0058 | 1 | 416 | 0.0024 | 24 | c.*47 others(35): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | |||||||
POTEE_chr2_131204536_131270278 | 131211520 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02071.hp2 HG02135.hp2 others(11): Show |
a0001a0005a0017others(1): Show | a0001c0001a0001c0036a0005c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(5): Show | a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0231 others(11): Show |
14 | 288 | 0.0486 | 24 | c.-18 others(41): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POTEE_chr2_131204536_131270278 | 131211540 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 288 | 0.0035 | 24 | c.-18 others(41): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
POTEJ_chr2_130606440_130663037 | 130611710 | A | AAGATGGG others(17): Show |
stop_gained others(1): Show |
HIGH | NA18612.hp2 | a0027 | a0027c0011 | a0027c0011t0001 | a0027c0011t0001g0078 | 1 | 131 | 0.0076 | 24 | c.179 others(31): Show |
p.His others(35): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 296/3370 | 203/3117 | 68/1038 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
POTEJ_chr2_130606440_130663037 | 130613257 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 131 | 0.0076 | 24 | c.410 others(41): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POTEJ_chr2_130606440_130663037 | 130649349 | C | CTGATCTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0047 | 1 | 131 | 0.0076 | 24 | c.166 others(43): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | TogoVar | |||||||
POTEM_chr14_18962434_19008752 | 18969357 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0003 | a0003c0003 | a0003c0003t0021 | a0003c0003t0021g0035 | 1 | 67 | 0.0149 | 24 | c.521 others(41): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
POTEM_chr14_18962434_19008752 | 18969359 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18983.hp2 NA19007.hp2 |
a0007 | a0007c0005 | a0007c0005t0005a0007c0005t0030 | a0007c0005t0005g0053 a0007c0005t0005g0054 a0007c0005t0030g0055 |
3 | 67 | 0.0448 | 24 | c.521 others(41): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111276453 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 380 | 0.0026 | 24 | c.121 others(41): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111280057 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 380 | 0.0026 | 24 | c.121 others(41): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F1_chr1_167215886_167432340 | 167324288 | C | CAACAATT others(17): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02109.hp1 HG02257.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(26): Show | a0001c0001t0003g0116 a0001c0001t0005g0276 a0001c0001t0005g0277 others(43): Show |
46 | 292 | 0.1575 | 24 | c.62- others(39): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
POU5F2_chr5_93728220_93746600 | 93744434 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0000 | 1 | 374 | 0.0027 | 24 | c.-28 others(35): Show |
POU5F2 | ENSG00000248483.7 | transcript | ENST00000606183.4 | protein_coding | 2835 | chr5 | TogoVar | |||||||
POU6F1_chr12_51181936_51223062 | 51219925 | A | ATGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0040 | 1 | 440 | 0.0023 | 24 | c.-23 others(35): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 1864 | chr12 | TogoVar | |||||||
POU6F1_chr12_51181936_51223062 | 51219953 | G | GTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0293 | 1 | 440 | 0.0023 | 24 | c.-23 others(35): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 1892 | chr12 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39005484 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02083.hp1 HG02735.hp1 others(5): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0121 a0001c0001t0002g0130 a0001c0001t0003g0027 others(5): Show |
8 | 170 | 0.0471 | 24 | c.105 others(43): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39015861 | A | AATATATT others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0019 | a0001c0001t0002g0131 a0001c0002t0019g0052 |
2 | 170 | 0.0118 | 24 | c.105 others(43): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39016057 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01074.hp1 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0025others(10): Show | a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0128 others(24): Show |
27 | 170 | 0.1588 | 24 | c.105 others(43): 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(17): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 170 | 0.0059 | 24 | c.105 others(43): 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(17): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 NA18906.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0144 a0001c0001t0004g0001 a0001c0001t0004g0156 others(2): Show |
5 | 170 | 0.0294 | 24 | c.106 others(43): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39150225 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093 | 1 | 170 | 0.0059 | 24 | c.278 others(43): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39278088 | A | AGAGGGAG others(17): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0036 | 1 | 170 | 0.0059 | 24 | c.599 others(43): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39397814 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03041.hp2 NA20300.hp1 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0029 | a0001c0005t0001g0005 a0001c0005t0001g0151 a0001c0005t0029g0098 |
3 | 170 | 0.0177 | 24 | c.973 others(41): 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(17): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01361.hp1 HG01884.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(4): Show | a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0002g0010 others(7): Show |
11 | 396 | 0.0278 | 24 | c.-88 others(33): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 693 | chr3 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70220823 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0344 | 1 | 408 | 0.0025 | 24 | c.124 others(41): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105460856 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0006g0208 |
3 | 366 | 0.0082 | 24 | c.158 others(41): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105473914 | T | TTTAGTAA others(17): Show |
conservative_inframe_insertion | MODERATE | NA18986.hp1 | a0007 | a0007c0012 | a0007c0012t0011 | a0007c0012t0011g0358 | 1 | 366 | 0.0027 | 24 | c.136 others(31): Show |
p.Gln others(35): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 1/12 | 148/1665 | 136/1005 | 46/334 | chr4 | TogoVar | |||
PPARA_chr22_46145526_46248755 | 46146426 | G | GAGAGAGA others(17): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 200 | 0.0050 | 24 | c.-44 others(35): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4099 | chr22 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46205554 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 200 | 0.0050 | 24 | c.208 others(41): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46205554 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 200 | 0.0050 | 24 | c.208 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02976.hp1 HG03669.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0011 | a0001c0002t0003g0042 a0001c0002t0011g0010 a0001c0002t0011g0011 |
3 | 238 | 0.0126 | 24 | c.-10 others(45): 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(17): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02698.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0007g0023 a0001c0002t0002g0026 a0001c0002t0003g0018 others(4): Show |
7 | 238 | 0.0294 | 24 | c.131 others(41): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149750453 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01261.hp1 HG02004.hp1 others(11): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0190 a0001c0001t0002g0134 a0001c0001t0002g0163 others(11): Show |
14 | 320 | 0.0438 | 24 | c.78+ others(41): 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(17): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03098.hp1 |
a0002a0005 | a0002c0008a0005c0011 | a0002c0008t0008a0005c0011t0009 | a0002c0008t0008g0319 a0005c0011t0009g0132 |
2 | 320 | 0.0063 | 24 | c.78+ others(41): 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(17): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 a0001c0001t0001g0292 |
2 | 294 | 0.0068 | 24 | c.729 others(39): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75856882 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 270 | 0.0037 | 24 | c.*37 others(35): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 2984 | chr4 | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75856882 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 270 | 0.0037 | 24 | c.*37 others(35): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 2984 | chr4 | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75870878 | C | CATTTATT others(17): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 270 | 0.0037 | 24 | c.164 others(43): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 13/16 | chr4 | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75905380 | T | TTTTATTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 HG02976.hp2 |
a0005a0006 | a0005c0018a0006c0007 | a0005c0018t0005a0006c0007t0003 | a0005c0018t0005g0229 a0006c0007t0003g0209 |
2 | 270 | 0.0074 | 24 | c.-32 others(35): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 2929 | chr4 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70279902 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03516.hp1 |
a0001a0006 | a0001c0004a0006c0016 | a0001c0004t0003a0006c0016t0003 | a0001c0004t0003g0051 a0006c0016t0003g0050 |
2 | 282 | 0.0071 | 24 | c.264 others(41): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70279905 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0034 | 1 | 282 | 0.0036 | 24 | c.264 others(41): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70279917 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0043 | 1 | 282 | 0.0036 | 24 | c.264 others(41): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81294439 | T | TAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 168 | 0.0060 | 24 | c.292 others(41): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 24/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81462585 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01169.hp1 HG02083.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0118 others(7): Show |
10 | 168 | 0.0595 | 24 | c.304 others(41): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81688802 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 168 | 0.0060 | 24 | c.250 others(43): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 3/32 | chr12 | TogoVar | |||||||
PPFIA3_chr19_49114544_49156026 | 49137628 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG03139.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0259 a0001c0001t0002g0255 others(1): Show |
7 | 362 | 0.0193 | 24 | c.185 others(41): Show |
PPFIA3 | ENSG00000177380.14 | transcript | ENST00000334186.9 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPFIBP1_chr12_27519206_27700564 | 27614145 | A | AGAGGGGA others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 314 | 0.0032 | 24 | c.-35 others(43): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPFIBP1_chr12_27519206_27700564 | 27644244 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01993.hp1 HG03486.hp1 NA18952.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0154 a0001c0001t0003g0211 a0001c0001t0005g0153 others(1): Show |
4 | 314 | 0.0127 | 24 | c.271 others(41): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |