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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRM_chr18_7562316_8411856 | 7653118 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02559.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0006others(3): Show | a0001c0001t0002g0027 a0001c0001t0003g0077 a0001c0002t0006g0073 others(3): Show |
6 | 20 | 0.3000 | 9 | c.73+ others(26): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7889742 | T | TGAGTCAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00673.hp2 others(53): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0020 others(53): Show |
56 | 80 | 0.7000 | 9 | c.468 others(26): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7911846 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02280.hp1 HG02280.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0051 others(4): Show |
7 | 21 | 0.3333 | 9 | c.547 others(26): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8063316 | T | TCGCGCAA others(2): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03453.hp2 HG03471.hp1 |
a0001 | a0001c0008a0001c0012 | a0001c0008t0001a0001c0008t0002a0001c0012t0002 | a0001c0008t0001g0080 a0001c0008t0002g0025 a0001c0012t0002g0035 |
3 | 75 | 0.0400 | 9 | c.113 others(28): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | chr18 | TogoVar | |||||||
PTPRM_chr18_7562316_8411856 | 8063316 | T | TCGCGCAC others(2): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02451.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0020 a0001c0001t0002g0031 a0001c0001t0005g0036 others(2): Show |
5 | 77 | 0.0649 | 9 | c.113 others(28): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | chr18 | TogoVar | |||||||
PTPRM_chr18_7562316_8411856 | 8126027 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02040.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0031 a0001c0002t0002g0056 |
2 | 28 | 0.0714 | 9 | c.216 others(30): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 13/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8126027 | A | ATATTTTT others(2): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03209.hp1 HG03453.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0003t0001g0040 a0001c0004t0001g0055 others(2): Show |
5 | 31 | 0.1613 | 9 | c.216 others(30): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 13/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8390935 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01891.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0003g0077 others(6): Show |
9 | 18 | 0.5000 | 9 | c.420 others(28): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRN_chr2_219284623_219314401 | 219312216 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG02280.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0144 a0001c0002t0002g0004 a0001c0002t0002g0021 others(11): Show |
28 | 280 | 0.1000 | 9 | c.-28 others(20): Show |
PTPRN | ENSG00000054356.14 | transcript | ENST00000295718.7 | protein_coding | 2816 | chr2 | TogoVar | |||||||
PTPRO_chr12_15317508_15603331 | 15448339 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01074.hp1 HG01109.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0044 a0001c0001t0001g0086 others(32): Show |
35 | 60 | 0.5833 | 9 | c.76- others(26): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRQ_chr12_80439235_80685273 | 80489987 | G | GTCTTGTG others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(58): Show |
a0001a0011a0019others(17): Show | a0001c0001a0001c0013a0001c0025others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0045 others(57): Show |
61 | 176 | 0.3466 | 9 | c.136 others(28): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 9/44 | chr12 | TogoVar | |||||||
PTPRQ_chr12_80439235_80685273 | 80642922 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02080.hp2 HG02717.hp1 others(3): Show |
a0001a0003a0011others(2): Show | a0001c0001a0003c0014a0011c0023others(2): Show | a0001c0001t0002a0003c0014t0002a0011c0023t0002others(2): Show | a0001c0001t0002g0062 a0003c0014t0002g0154 a0011c0023t0002g0035 others(3): Show |
6 | 176 | 0.0341 | 9 | c.591 others(28): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRR_chr12_70633079_70925738 | 70737486 | A | ATTATCTA others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02145.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0002a0003c0003others(2): Show | a0001c0004t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0004t0001g0109 a0002c0002t0001g0010 a0002c0002t0001g0021 others(12): Show |
15 | 74 | 0.2027 | 9 | c.100 others(28): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 6/13 | chr12 | TogoVar | |||||||
PTPRR_chr12_70633079_70925738 | 70793168 | A | AAACAATA others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02723.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0009 | a0001c0001t0001a0002c0002t0001a0008c0009t0001 | a0001c0001t0001g0076 a0002c0002t0001g0127 a0002c0002t0001g0128 others(2): Show |
5 | 202 | 0.0248 | 9 | c.358 others(28): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
PTPRS_chr19_5200508_5345812 | 5233946 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0055 others(36): Show |
39 | 60 | 0.6500 | 9 | c.185 others(28): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 13/37 | chr19 | TogoVar | |||||||
PTPRS_chr19_5200508_5345812 | 5305939 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01255.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0002g0134 others(13): Show |
16 | 45 | 0.3556 | 9 | c.-94 others(28): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | |||||||
PTPRS_chr19_5200508_5345812 | 5331127 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0004a0001c0006a0001c0010others(1): Show | a0001c0004t0006a0001c0006t0008a0001c0006t0015others(2): Show | a0001c0004t0006g0074 a0001c0006t0008g0245 a0001c0006t0015g0214 others(2): Show |
5 | 95 | 0.0526 | 9 | c.-95 others(26): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42184535 | C | CTCTTCTT others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02647.hp2 NA18906.hp2 others(1): Show |
a0001a0002a0003 | a0001c0003a0001c0018a0002c0001others(1): Show | a0001c0003t0018a0001c0018t0003a0002c0001t0003others(1): Show | a0001c0003t0018g0046 a0001c0018t0003g0030 a0002c0001t0003g0008 others(1): Show |
4 | 40 | 0.1000 | 9 | c.249 others(30): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 16/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42212023 | C | CAAATTGG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG01243.hp2 others(11): Show |
a0001a0002a0008 | a0001c0003a0001c0007a0001c0027others(6): Show | a0001c0003t0002a0001c0003t0003a0001c0007t0004others(11): Show | a0001c0003t0002g0043 a0001c0003t0003g0033 a0001c0007t0004g0062 others(11): Show |
14 | 62 | 0.2258 | 9 | c.234 others(30): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 15/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42350220 | T | TGTTTGTT others(2): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18906.hp2 |
a0001a0003 | a0001c0007a0003c0024 | a0001c0007t0004a0003c0024t0005 | a0001c0007t0004g0062 a0003c0024t0005g0032 |
2 | 62 | 0.0323 | 9 | c.186 others(26): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 11/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42350229 | T | TGTTGTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG02622.hp1 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0023others(4): Show | a0001c0002t0002a0001c0002t0014a0001c0003t0004others(5): Show | a0001c0002t0002g0058 a0001c0002t0014g0052 a0001c0003t0004g0041 others(5): Show |
8 | 36 | 0.2222 | 9 | c.186 others(26): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 11/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42508119 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02809.hp1 HG02886.hp2 others(2): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0002c0015others(1): Show | a0001c0002t0006a0001c0008t0001a0002c0015t0001others(1): Show | a0001c0002t0006g0036 a0001c0002t0006g0039 a0001c0008t0001g0060 others(2): Show |
5 | 48 | 0.1042 | 9 | c.115 others(30): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 43103750 | G | GTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02886.hp1 HG03471.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0004a0004c0006others(1): Show | a0001c0003t0001a0002c0004t0002a0004c0006t0008others(1): Show | a0001c0003t0001g0038 a0002c0004t0002g0005 a0004c0006t0008g0054 others(1): Show |
4 | 32 | 0.1250 | 9 | c.88+ others(26): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
PTPRZ1_chr7_121868161_122067036 | 121887064 | G | GAAACTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(206): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0030a0002c0002others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0047 others(204): Show |
209 | 309 | 0.6764 | 9 | c.58+ others(26): Show |
PTPRZ1 | ENSG00000106278.12 | transcript | ENST00000393386.7 | protein_coding | 1/29 | chr7 | TogoVar | |||||||
PTPRZ1_chr7_121868161_122067036 | 121891451 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01081.hp2 others(21): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0006others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(4): Show | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0063 others(21): Show |
24 | 106 | 0.2264 | 9 | c.58+ others(26): Show |
PTPRZ1 | ENSG00000106278.12 | transcript | ENST00000393386.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTRHD1_chr2_24784728_24798391 | 24785604 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 NA18987.hp2 NA18991.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 |
8 | 353 | 0.0227 | 9 | c.*48 others(20): Show |
PTRHD1 | ENSG00000184924.6 | transcript | ENST00000328379.6 | protein_coding | 4123 | chr2 | TogoVar | |||||||
PTTG1IP2_chr7_90464639_90518397 | 90482759 | T | TTTTTTGC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp1 others(85): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(69): Show |
88 | 382 | 0.2304 | 9 | c.192 others(26): Show |
PTTG1IP2 | ENSG00000251154.2 | transcript | ENST00000509356.2 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
PTTG1IP2_chr7_90464639_90518397 | 90497713 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02040.hp2 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0167 others(13): Show |
17 | 142 | 0.1197 | 9 | c.*50 others(26): Show |
PTTG1IP2 | ENSG00000251154.2 | transcript | ENST00000509356.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 31009782 | A | AAACAAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03098.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0240 others(3): Show |
6 | 69 | 0.0870 | 9 | c.433 others(26): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 3/21 | chr1 | TogoVar | |||||||
PUM2_chr2_20243737_20355844 | 20261394 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18522.hp2 NA18970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0012 a0001c0001t0002g0276 a0001c0001t0002g0277 others(3): Show |
6 | 29 | 0.2069 | 9 | c.222 others(26): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44667788 | A | ATATATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 NA18522.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0068a0001c0001t0076a0001c0001t0103 | a0001c0001t0068g0177 a0001c0001t0076g0049 a0001c0001t0103g0171 |
3 | 410 | 0.0073 | 9 | c.*59 others(20): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1627 | chr19 | TogoVar | |||||||
PWP1_chr12_107680799_107718162 | 107688030 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(31): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0037 others(19): Show |
34 | 125 | 0.2720 | 9 | c.73- others(22): Show |
PWP1 | ENSG00000136045.12 | transcript | ENST00000412830.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PWWP2A_chr5_160086339_160124450 | 160095047 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG04184.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0013 a0001c0001t0005g0029 a0001c0001t0008g0015 others(3): Show |
6 | 61 | 0.0984 | 9 | c.585 others(24): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160104122 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(32): Show | a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0031 others(143): Show |
146 | 273 | 0.5348 | 9 | c.585 others(28): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP3A_chr19_1349959_1383429 | 1375880 | A | ACTGCAAC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01074.hp2 others(42): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0216 others(34): Show |
45 | 410 | 0.1098 | 9 | c.207 others(26): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PWWP4_chrX_153261152_153284145 | 153270232 | G | GAGAGAGA others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03195.hp1 |
a0009 | a0009c0011 | a0009c0011t0004 | a0009c0011t0004g0024 a0009c0011t0004g0025 |
2 | 135 | 0.0148 | 9 | c.-39 others(26): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 2/3 | chrX | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51314828 | T | TGTAGTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01192.hp2 HG02257.hp2 others(17): Show |
a0001a0003a0013others(6): Show | a0001c0001a0003c0003a0003c0005others(7): Show | a0001c0001t0002a0003c0003t0001a0003c0003t0002others(9): Show | a0001c0001t0002g0116 a0003c0003t0001g0021 a0003c0003t0001g0051 others(17): Show |
20 | 120 | 0.1667 | 9 | c.*50 others(20): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4748 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51541253 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02109.hp1 others(6): Show |
a0004a0009a0010others(1): Show | a0004c0004a0009c0008a0010c0012others(1): Show | a0004c0004t0001a0004c0004t0003a0009c0008t0001others(3): Show | a0004c0004t0001g0037 a0004c0004t0001g0048 a0004c0004t0001g0049 others(6): Show |
9 | 46 | 0.1957 | 9 | c.380 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51654474 | A | AATAAATT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01167.hp2 HG02109.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0011a0002c0002a0003c0005others(3): Show | a0001c0011t0003a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0011t0003g0008 a0002c0002t0001g0067 a0002c0002t0001g0068 others(7): Show |
10 | 120 | 0.0833 | 9 | c.236 others(24): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51668176 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01192.hp1 others(16): Show |
a0001a0003a0004others(7): Show | a0001c0001a0003c0003a0003c0005others(10): Show | a0001c0001t0001a0003c0003t0001a0003c0005t0001others(11): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 others(16): Show |
19 | 20 | 0.9500 | 9 | c.165 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1716440 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02129.hp1 NA18942.hp1 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0125 a0001c0001t0001g0270 a0001c0001t0001g0275 others(5): Show |
8 | 69 | 0.1159 | 9 | c.201 others(28): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1733748 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01981.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0198 others(16): Show |
19 | 56 | 0.3393 | 9 | c.200 others(28): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58327915 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0284 a0001c0001t0006g0286 a0001c0001t0006g0287 others(6): Show |
9 | 288 | 0.0313 | 9 | c.-50 others(20): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 4976 | chr3 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132707728 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01069.hp1 others(33): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0004a0001c0004t0005 | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0029 others(14): Show |
36 | 170 | 0.2118 | 9 | c.*30 others(20): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2744 | chr12 | TogoVar | |||||||
PXMP4_chr20_33697758_33725310 | 33717639 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00639.hp1 others(19): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0004a0001c0001t0012a0001c0001t0013others(6): Show | a0001c0001t0004g0017 a0001c0001t0004g0034 a0001c0001t0004g0107 others(12): Show |
22 | 229 | 0.0961 | 9 | c.113 others(26): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191464644 | C | CTTATATT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(211): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 214 | 432 | 0.4954 | 9 | c.*31 others(20): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 3189 | chr3 | TogoVar | |||||||
PYGB_chr20_25243085_25303012 | 25262665 | T | TAAAAGAC others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01515.hp2 others(23): Show |
a0001a0006a0009 | a0001c0004a0001c0009a0001c0021others(2): Show | a0001c0004t0002a0001c0004t0007a0001c0004t0011others(4): Show | a0001c0004t0002g0021 a0001c0004t0002g0040 a0001c0004t0002g0041 others(19): Show |
26 | 370 | 0.0703 | 9 | c.345 others(26): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
PYGL_chr14_50900217_50949483 | 50914496 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(56): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0006others(4): Show | a0001c0002t0003a0001c0003t0002a0001c0006t0002others(5): Show | a0001c0002t0003g0235 a0001c0003t0002g0007 a0001c0003t0002g0023 others(44): Show |
59 | 241 | 0.2448 | 9 | c.151 others(26): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 12/19 | chr14 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55554468 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02615.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0011a0001c0001t0016others(2): Show | a0001c0001t0001g0134 a0001c0001t0001g0210 a0001c0001t0011g0024 others(8): Show |
11 | 45 | 0.2444 | 9 | c.50- others(24): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55567197 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02027.hp2 HG02056.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0109 a0001c0001t0001g0208 a0001c0001t0001g0215 others(17): Show |
20 | 64 | 0.3125 | 9 | c.50- others(26): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar |