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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNMA8C_chr19_46419697_46433936 | 46430341 | TCTTCCTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01261.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0000a0001c0001t0004g0000a0001c0001t0007g0000others(2): Show | 18 | 442 | 0.0407 | -12 | c.-19 others(23): Show |
PNMA8C | ENSG00000277531.3 | transcript | ENST00000617053.3 | protein_coding | 1406 | chr19 | TogoVar | ||||||
PNO1_chr2_68152888_68181238 | 68153345 | TAAAAAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0286 | 1 | 444 | 0.0023 | -12 | c.-45 others(23): Show |
PNO1 | ENSG00000115946.8 | transcript | ENST00000263657.7 | protein_coding | 4542 | chr2 | TogoVar | ||||||
PNO1_chr2_68152888_68181238 | 68163540 | AATACATA others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0248 | 1 | 444 | 0.0023 | -12 | c.620 others(27): Show |
PNO1 | ENSG00000115946.8 | transcript | ENST00000263657.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PNOC_chr8_28312268_28348351 | 28334049 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(54): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0011others(47): Show | 57 | 424 | 0.1344 | -12 | c.126 others(29): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PNPLA1_chr6_36265060_36318955 | 36273251 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00609.hp1 others(65): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0189a0001c0001t0001g0208a0001c0001t0001g0209others(65): Show | 68 | 386 | 0.1762 | -12 | c.205 others(29): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PNPLA1_chr6_36265060_36318955 | 36282080 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG01517.hp2 HG03490.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131a0002c0002t0001g0132 | 2 | 386 | 0.0052 | -12 | c.206 others(29): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PNPLA1_chr6_36265060_36318955 | 36282088 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0050 | 1 | 386 | 0.0026 | -12 | c.206 others(29): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PNPLA1_chr6_36265060_36318955 | 36284555 | TCATCCAT others(5): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0003 | 1 | 386 | 0.0026 | -12 | c.206 others(29): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PNPLA1_chr6_36265060_36318955 | 36287755 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG03710.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001a0003c0006t0021 | a0001c0001t0001g0372a0003c0006t0001g0363a0003c0006t0021g0362 | 3 | 386 | 0.0078 | -12 | c.206 others(29): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PNPLA1_chr6_36265060_36318955 | 36302063 | GCCTGTGT others(5): Show |
G | conservative_inframe_deletion | MODERATE | NA18990.hp1 | a0019 | a0019c0027 | a0019c0027t0002 | a0019c0027t0002g0176 | 1 | 386 | 0.0026 | -12 | c.985 others(19): Show |
p.Ser others(13): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 6/9 | 1385/4188 | 985/1719 | 329/572 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
PNPLA5_chr22_43874678_43897013 | 43888371 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp2 others(103): Show |
a0003a0007a0008others(1): Show | a0003c0002a0003c0007a0003c0009others(3): Show | a0003c0002t0001a0003c0002t0003a0003c0002t0006others(10): Show | a0003c0002t0001g0009a0003c0002t0003g0001a0003c0002t0003g0027others(31): Show | 106 | 438 | 0.2420 | -12 | c.703 others(27): Show |
PNPLA5 | ENSG00000100341.13 | transcript | ENST00000216177.9 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
PNPLA6_chr19_7530717_7566764 | 7536926 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0367 | 1 | 416 | 0.0024 | -12 | c.413 others(27): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PNPLA6_chr19_7530717_7566764 | 7554980 | ACCGTGGA others(5): Show |
A | disruptive_inframe_deletion | MODERATE | NA18949.hp2 | a0008 | a0008c0021 | a0008c0021t0001 | a0008c0021t0001g0264 | 1 | 416 | 0.0024 | -12 | c.272 others(21): Show |
p.Thr others(19): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 22/32 | 2795/4372 | 2723/4098 | 908/1365 | chr19 | TogoVar | ||
PNPLA6_chr19_7530717_7566764 | 7563453 | CTATTATT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG01346.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0022others(13): Show | 16 | 416 | 0.0385 | -12 | c.*18 others(23): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 1690 | chr19 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137459237 | TGGGCTCG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02723.hp1 others(1): Show |
a0001a0016a0023 | a0001c0002a0016c0017a0023c0052 | a0001c0002t0001a0016c0017t0004a0023c0052t0004 | a0001c0002t0001g0114a0016c0017t0004g0053a0016c0017t0004g0135others(1): Show | 4 | 188 | 0.0213 | -12 | c.*11 others(23): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 714 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137501799 | CTGGGCTG others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0016 | a0016c0017 | a0016c0017t0004 | a0016c0017t0004g0135 | 1 | 188 | 0.0053 | -12 | c.147 others(27): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137504183 | AAGGAAGA others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01361.hp2 others(31): Show |
a0001a0002a0006others(6): Show | a0001c0001a0001c0047a0002c0003others(12): Show | a0001c0001t0006a0001c0047t0002a0002c0003t0001others(12): Show | a0001c0001t0006g0001a0001c0047t0002g0175a0002c0003t0001g0004others(31): Show | 34 | 188 | 0.1809 | -12 | c.147 others(31): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137519398 | GGCCAAGC others(5): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01361.hp2 others(26): Show |
a0001a0002a0006others(3): Show | a0001c0002a0002c0003a0002c0004others(7): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0005others(8): Show | a0001c0002t0001g0111a0002c0003t0001g0004a0002c0003t0001g0030others(26): Show | 29 | 188 | 0.1543 | -12 | c.108 others(29): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | ||||||
PNPLA8_chr7_108465417_108531135 | 108487532 | CACACTAT others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275a0001c0001t0001g0276a0001c0001t0001g0277others(1): Show | 4 | 390 | 0.0103 | -12 | c.187 others(29): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 9/10 | chr7 | TogoVar | ||||||
PNPLA8_chr7_108465417_108531135 | 108498126 | CAAAAAAC others(5): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0076 | 1 | 390 | 0.0026 | -12 | c.135 others(29): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 5/10 | chr7 | TogoVar | ||||||
PNPLA8_chr7_108465417_108531135 | 108505300 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG01928.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0293a0001c0001t0001g0326a0001c0001t0001g0342others(8): Show | 11 | 390 | 0.0282 | -12 | c.120 others(31): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
PNPLA8_chr7_108465417_108531135 | 108505352 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036a0001c0001t0002g0037 | 2 | 390 | 0.0051 | -12 | c.120 others(31): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
PNPLA8_chr7_108465417_108531135 | 108518720 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(2): Show | a0001c0001t0001g0319a0001c0001t0001g0320a0001c0001t0001g0321others(8): Show | 12 | 390 | 0.0308 | -12 | c.-84 others(29): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
PNPLA8_chr7_108465417_108531135 | 108518748 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 NA18957.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0015 | a0001c0001t0001g0284a0001c0001t0001g0291a0001c0001t0001g0292others(2): Show | 5 | 390 | 0.0128 | -12 | c.-84 others(29): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
PNPO_chr17_47936571_47954308 | 47944200 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02280.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0020others(1): Show | a0001c0001t0004g0007a0001c0001t0010g0007a0001c0001t0020g0007others(1): Show | 16 | 380 | 0.0421 | -12 | c.264 others(27): Show |
PNPO | ENSG00000108439.11 | transcript | ENST00000642017.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PNPT1_chr2_55629061_55698844 | 55650141 | CACCTCTA others(5): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0346 | 1 | 390 | 0.0026 | -12 | c.149 others(31): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
PNPT1_chr2_55629061_55698844 | 55657856 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0030others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0033a0001c0001t0001g0044others(6): Show | 9 | 390 | 0.0231 | -12 | c.128 others(31): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 15/27 | chr2 | TogoVar | ||||||
PNPT1_chr2_55629061_55698844 | 55694980 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02965.hp2 NA19030.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0003c0003t0004a0003c0003t0016 | a0001c0001t0008g0205a0003c0003t0004g0073a0003c0003t0004g0105others(1): Show | 4 | 390 | 0.0103 | -12 | c.-11 others(23): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1137 | chr2 | TogoVar | ||||||
PNP_chr14_20464406_20482089 | 20481124 | TCACACAC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0009 | 2 | 448 | 0.0045 | -12 | c.*45 others(23): Show |
PNP | ENSG00000198805.13 | transcript | ENST00000361505.10 | protein_coding | 4036 | chr14 | TogoVar | ||||||
PNRC1_chr6_89075751_89090160 | 89086498 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp2 others(37): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0011a0008c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(2): Show | 40 | 396 | 0.1010 | -12 | c.*23 others(23): Show |
PNRC1 | ENSG00000146278.11 | transcript | ENST00000336032.4 | protein_coding | 1339 | chr6 | TogoVar | ||||||
PNRC1_chr6_89075751_89090160 | 89086520 | AAAAAAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0006 | 2 | 396 | 0.0051 | -12 | c.*23 others(23): Show |
PNRC1 | ENSG00000146278.11 | transcript | ENST00000336032.4 | protein_coding | 1361 | chr6 | TogoVar | ||||||
POC1A_chr3_52070226_52159423 | 52111652 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0016a0001c0001t0002g0189others(3): Show | 9 | 286 | 0.0315 | -12 | c.981 others(31): Show |
POC1A | ENSG00000164087.8 | transcript | ENST00000296484.7 | protein_coding | 9/10 | chr3 | TogoVar | ||||||
POC1B_chr12_89414718_89531047 | 89476697 | AATAGATA others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01099.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0043a0001c0001t0001g0047others(19): Show | 22 | 370 | 0.0595 | -12 | c.453 others(29): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
POC1B_chr12_89414718_89531047 | 89476751 | TAGATAGA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00735.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(50): Show | 54 | 370 | 0.1460 | -12 | c.453 others(29): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
POC1B_chr12_89414718_89531047 | 89476755 | TAGATAGA others(5): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0108a0001c0001t0008g0362a0001c0001t0008g0364 | 3 | 370 | 0.0081 | -12 | c.453 others(29): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
POC1B_chr12_89414718_89531047 | 89478077 | ACATTCAT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00639.hp2 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(102): Show | 107 | 370 | 0.2892 | -12 | c.453 others(29): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
PODXL2_chr3_127624185_127677802 | 127648787 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 402 | 0.0025 | -12 | c.349 others(29): Show |
PODXL2 | ENSG00000114631.11 | transcript | ENST00000342480.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PODXL_chr7_131495271_131561628 | 131499780 | CATATATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01515.hp2 others(1): Show |
a0005a0013a0016 | a0005c0026a0013c0025a0016c0035 | a0005c0026t0004a0013c0025t0009a0016c0035t0009 | a0005c0026t0004g0420a0013c0025t0009g0098a0013c0025t0009g0144others(1): Show | 4 | 440 | 0.0091 | -12 | c.*45 others(23): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 490 | chr7 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131499816 | TACATACA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0239 | 1 | 440 | 0.0023 | -12 | c.*44 others(23): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 454 | chr7 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131506542 | GCAGGCCC others(5): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0256 | 1 | 440 | 0.0023 | -12 | c.124 others(27): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 6/8 | chr7 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131517565 | ATATATTC others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0219 | 1 | 440 | 0.0023 | -12 | c.101 others(29): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131524373 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp2 |
a0006 | a0006c0007a0006c0011 | a0006c0007t0001a0006c0011t0003 | a0006c0007t0001g0170a0006c0011t0003g0171 | 2 | 440 | 0.0046 | -12 | c.101 others(31): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131524375 | CACACAGA others(5): Show |
C | intron_variant | MODIFIER | HG01516.hp1 | a0008 | a0008c0009 | a0008c0009t0004 | a0008c0009t0004g0119 | 1 | 440 | 0.0023 | -12 | c.101 others(31): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131524377 | CACAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(45): Show |
a0001a0004a0007others(2): Show | a0001c0001a0004c0004a0007c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0004c0004t0003others(11): Show | a0001c0001t0001g0067a0001c0001t0003g0163a0004c0004t0003g0358others(45): Show | 48 | 440 | 0.1091 | -12 | c.101 others(31): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131532123 | AATCATCA others(5): Show |
A | intron_variant | MODIFIER | HG01168.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0254 | 1 | 440 | 0.0023 | -12 | c.101 others(31): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131546147 | GTCACTGC others(5): Show |
G | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 440 | 0.0023 | -12 | c.100 others(31): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131556270 | GGGCGACG others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG01496.hp1 HG02572.hp1 HG02572.hp2 others(14): Show |
a0009a0026a0027others(1): Show | a0009c0014a0009c0018a0009c0041others(3): Show | a0009c0014t0001a0009c0014t0003a0009c0014t0006others(8): Show | a0009c0014t0001g0036a0009c0014t0001g0038a0009c0014t0003g0033others(14): Show | 17 | 440 | 0.0386 | -12 | c.78_ others(17): Show |
p.Ser others(11): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/9 | 358/5986 | 78/1677 | 26/558 | chr7 | TogoVar | ||
POGLUT1_chr3_119463963_119499708 | 119475954 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(50): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0019a0001c0002t0062others(2): Show | a0001c0002t0002g0001a0001c0002t0002g0053a0001c0002t0002g0054others(18): Show | 53 | 422 | 0.1256 | -12 | c.321 others(29): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
POGLUT1_chr3_119463963_119499708 | 119475989 | CACACAAA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02015.hp1 HG02083.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0005g0117a0001c0001t0006g0027a0001c0001t0006g0116others(4): Show | 8 | 422 | 0.0190 | -12 | c.321 others(29): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
POGLUT1_chr3_119463963_119499708 | 119495225 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0098 | 1 | 422 | 0.0024 | -12 | c.*27 others(23): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 518 | chr3 | TogoVar |