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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIK3AP1_chr10_96588315_96725514 | 96604344 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00639.hp1 others(98): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0017a0001c0033others(13): Show | a0001c0001t0001a0001c0017t0001a0001c0033t0001others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(98): Show |
101 | 106 | 0.9528 | -9 | c.217 others(26): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 14/16 | chr10 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96612976 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01099.hp1 others(6): Show |
a0002a0004a0005others(1): Show | a0002c0005a0004c0004a0004c0032others(2): Show | a0002c0005t0002a0004c0004t0002a0004c0032t0002others(2): Show | a0002c0005t0002g0151 a0004c0004t0002g0022 a0004c0004t0002g0229 others(6): Show |
9 | 219 | 0.0411 | -9 | c.201 others(28): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 13/16 | chr10 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17189812 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0003 | a0001c0001t0003g0100 a0001c0001t0003g0173 a0001c0001t0003g0176 others(17): Show |
20 | 193 | 0.1036 | -9 | c.-66 others(28): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18608052 | CAGGATGT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00735.hp1 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(12): Show | a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0158 others(28): Show |
31 | 174 | 0.1782 | -9 | c.408 others(28): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3CA_chr3_179143357_179245093 | 179205020 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG02055.hp1 HG02257.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0006a0002c0002t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0059 a0001c0001t0001g0108 others(13): Show |
17 | 53 | 0.3208 | -9 | c.114 others(26): Show |
PIK3CA | ENSG00000121879.6 | transcript | ENST00000263967.4 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PIK3CB_chr3_138647698_138839928 | 138693957 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0021 | a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0198 others(3): Show |
6 | 204 | 0.0294 | -9 | c.189 others(26): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 14/23 | chr3 | TogoVar | |||||||
PIK3CB_chr3_138647698_138839928 | 138830903 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0033 others(6): Show |
9 | 61 | 0.1475 | -9 | c.-12 others(28): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 1/23 | chr3 | TogoVar | |||||||
PIK3R1_chr5_68210756_68306821 | 68223123 | AATCATCA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(154): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(55): Show | a0001c0001t0002g0218 a0001c0001t0002g0273 a0001c0001t0002g0288 others(151): Show |
157 | 244 | 0.6434 | -9 | c.-38 others(28): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46119773 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp1 HG02055.hp2 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0014a0001c0003t0015 | a0001c0003t0006g0003 a0001c0003t0006g0004 a0001c0003t0006g0005 others(9): Show |
12 | 246 | 0.0488 | -9 | c.106 others(28): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PIK3R4_chr3_130673934_130751829 | 130723062 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01496.hp2 HG02132.hp2 others(22): Show |
a0001a0003a0006 | a0001c0001a0003c0008a0006c0011 | a0001c0001t0001a0003c0008t0001a0006c0011t0001 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 others(16): Show |
25 | 54 | 0.4630 | -9 | c.198 others(26): Show |
PIK3R4 | ENSG00000196455.8 | transcript | ENST00000356763.8 | protein_coding | 7/19 | chr3 | TogoVar | |||||||
PIK3R5_chr17_8873916_8970707 | 8888002 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02630.hp2 NA18964.hp2 NA18971.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0003t0004g0024 |
3 | 124 | 0.0242 | -9 | c.161 others(26): Show |
PIK3R5 | ENSG00000141506.15 | transcript | ENST00000447110.6 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
PIK3R5_chr17_8873916_8970707 | 8969509 | AATTATTA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02622.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0014a0001c0003t0001 | a0001c0001t0001g0160 a0001c0001t0001g0289 a0001c0001t0014g0251 others(1): Show |
4 | 93 | 0.0430 | -9 | c.-39 others(20): Show |
PIK3R5 | ENSG00000141506.15 | transcript | ENST00000447110.6 | protein_coding | 3803 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8814215 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0074 a0001c0001t0001g0351 a0001c0002t0001g0066 others(3): Show |
6 | 87 | 0.0690 | -9 | c.199 others(28): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8827754 | AGAGAGAG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 NA18906.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0339 a0001c0001t0002g0070 a0001c0001t0002g0311 |
3 | 352 | 0.0085 | -9 | c.139 others(26): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 12/19 | chr17 | TogoVar | |||||||
PIKFYVE_chr2_208261255_208363746 | 208270037 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02559.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(8): Show |
11 | 241 | 0.0456 | -9 | c.-9- others(24): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PIKFYVE_chr2_208261255_208363746 | 208359504 | TTTCTGTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01496.hp2 HG01884.hp2 others(20): Show |
a0003a0008a0010 | a0003c0004a0003c0012a0008c0009others(1): Show | a0003c0004t0003a0003c0004t0009a0003c0004t0013others(5): Show | a0003c0004t0003g0012 a0003c0004t0003g0014 a0003c0004t0003g0016 others(20): Show |
23 | 286 | 0.0804 | -9 | c.*42 others(20): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 759 | chr2 | TogoVar | |||||||
PINK1_chr1_20628458_20656511 | 20646992 | GCCTCCGC others(2): Show |
G | intron_variant | MODIFIER | NA18950.hp1 NA19006.hp1 NA19075.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0154 a0001c0001t0001g0160 |
4 | 456 | 0.0088 | -9 | c.112 others(28): Show |
PINK1 | ENSG00000158828.8 | transcript | ENST00000321556.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22531555 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0014a0001c0005t0021 | a0001c0005t0014g0079 a0001c0005t0014g0080 a0001c0005t0014g0081 others(2): Show |
5 | 74 | 0.0676 | -9 | c.*56 others(20): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 3298 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22549838 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02615.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0040others(4): Show | a0001c0001t0001g0171 a0001c0001t0005g0199 a0001c0001t0040g0200 others(5): Show |
8 | 11 | 0.7273 | -9 | c.792 others(24): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22640014 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02486.hp1 others(4): Show |
a0001a0003 | a0001c0002a0003c0009 | a0001c0002t0001a0003c0009t0011a0003c0009t0016 | a0001c0002t0001g0035 a0001c0002t0001g0044 a0001c0002t0001g0075 others(4): Show |
7 | 61 | 0.1148 | -9 | c.145 others(28): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22705425 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0002t0034a0001c0013t0006 | a0001c0002t0001g0017 a0001c0002t0001g0044 a0001c0002t0034g0019 others(1): Show |
4 | 192 | 0.0208 | -9 | c.144 others(26): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PIP4P1_chr14_20452681_20466434 | 20458109 | GACTGAGG others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18954.hp1 NA19003.hp1 NA19064.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 4 | 466 | 0.0086 | -9 | c.*44 others(18): Show |
PIP4P1 | ENSG00000165782.11 | transcript | ENST00000250489.9 | protein_coding | 7/7 | 441 | chr14 | TogoVar | ||||||
PIP4P2_chr8_90988802_91045859 | 91040394 | TCACCACC others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02818.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0033 others(2): Show |
6 | 308 | 0.0195 | -9 | c.106 others(24): Show |
PIP4P2 | ENSG00000155099.8 | transcript | ENST00000285419.8 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
PIP5KL1_chr9_127915881_127935777 | 127922733 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | NA19003.hp2 NA19074.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 |
3 | 398 | 0.0075 | -9 | c.918 others(24): Show |
PIP5KL1 | ENSG00000167103.12 | transcript | ENST00000388747.9 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
PIRT_chr17_10817470_10843087 | 10827465 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0022a0001c0001t0023 | a0001c0001t0007g0050 a0001c0001t0007g0139 a0001c0001t0007g0159 others(7): Show |
11 | 145 | 0.0759 | -9 | c.-13 others(28): Show |
PIRT | ENSG00000233670.7 | transcript | ENST00000580256.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
PITPNA_chr17_1512718_1567792 | 1563700 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01070.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0022 a0001c0001t0001g0316 a0001c0001t0001g0321 others(12): Show |
16 | 84 | 0.1905 | -9 | c.-11 others(20): Show |
PITPNA | ENSG00000174238.16 | transcript | ENST00000313486.12 | protein_coding | 909 | chr17 | TogoVar | |||||||
PITPNB_chr22_27846669_27924256 | 27869515 | CATTAAAC others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00738.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 others(35): Show |
39 | 364 | 0.1071 | -9 | c.534 others(26): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 8/11 | chr22 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67420374 | TCCTCCCT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(111): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 others(111): Show |
114 | 210 | 0.5429 | -9 | c.48+ others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67472332 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01169.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0160 a0001c0001t0001g0200 a0001c0001t0001g0201 others(5): Show |
8 | 35 | 0.2286 | -9 | c.49- others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599021 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0008a0001c0001t0072others(1): Show | a0001c0001t0007g0101 a0001c0001t0008g0179 a0001c0001t0072g0067 others(1): Show |
4 | 210 | 0.0190 | -9 | c.366 others(28): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67599025 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0055 a0001c0001t0022g0058 |
2 | 215 | 0.0093 | -9 | c.366 others(28): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631053 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0017others(2): Show | a0001c0001t0006g0076 a0001c0001t0014g0019 a0001c0001t0017g0054 others(2): Show |
5 | 66 | 0.0758 | -9 | c.367 others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67644425 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0086 a0001c0001t0001g0158 a0001c0001t0001g0209 others(17): Show |
20 | 110 | 0.1818 | -9 | c.462 others(28): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67647463 | GGTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0086 a0001c0001t0001g0158 a0001c0001t0003g0043 others(9): Show |
12 | 185 | 0.0649 | -9 | c.462 others(28): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | chr17 | TogoVar | |||||||
PITPNM2_chr12_122978480_123156090 | 122995576 | TGCCACCA others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG01884.hp2 HG02486.hp2 HG02559.hp1 others(15): Show |
a0002 | a0002c0003a0002c0008a0002c0022 | a0002c0003t0004a0002c0003t0009a0002c0008t0004others(1): Show | a0002c0003t0004g0001 a0002c0003t0004g0002 a0002c0003t0004g0003 others(12): Show |
18 | 228 | 0.0789 | -9 | c.185 others(18): Show |
p.Gly others(13): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 14/26 | 2403/7134 | 1858/4050 | 620/1349 | chr12 | TogoVar | |||
PITPNM2_chr12_122978480_123156090 | 123128264 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02602.hp2 HG02683.hp1 others(5): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0023 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0018 a0001c0001t0002g0184 a0001c0001t0002g0190 others(5): Show |
8 | 27 | 0.2963 | -9 | c.-19 others(30): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
PITPNM2_chr12_122978480_123156090 | 123153764 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG02080.hp2 NA18972.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0003a0001c0001t0005a0005c0007t0001 | a0001c0001t0003g0144 a0001c0001t0005g0139 a0001c0001t0005g0141 others(2): Show |
5 | 9 | 0.5556 | -9 | c.-32 others(20): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 2675 | chr12 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3133867 | CTTATTCA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0011a0001c0020 | a0001c0011t0001a0001c0020t0001 | a0001c0011t0001g0143 a0001c0020t0001g0141 a0001c0020t0001g0142 others(1): Show |
4 | 444 | 0.0090 | -9 | c.*41 others(20): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 3860 | chr10 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3134419 | TTTCTATT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG00741.hp1 others(40): Show |
a0001a0003a0005others(1): Show | a0001c0005a0001c0011a0001c0015others(7): Show | a0001c0005t0002a0001c0011t0003a0001c0015t0002others(7): Show | a0001c0005t0002g0014 a0001c0005t0002g0015 a0001c0005t0002g0030 others(30): Show |
43 | 444 | 0.0968 | -9 | c.*36 others(20): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 3308 | chr10 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3171146 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02602.hp2 HG03669.hp1 others(6): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0013t0001 | a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0025 others(3): Show |
9 | 228 | 0.0395 | -9 | c.57- others(22): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130371123 | GAATCACC others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02083.hp2 HG02738.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0001c0001t0019a0001c0001t0021others(7): Show | a0001c0001t0011g0035 a0001c0001t0019g0005 a0001c0001t0019g0274 others(22): Show |
31 | 424 | 0.0731 | -9 | c.232 others(24): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130372597 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00741.hp2 others(24): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0006a0001c0001t0027a0001c0001t0029others(5): Show | a0001c0001t0006g0012 a0001c0001t0006g0014 a0001c0001t0006g0016 others(20): Show |
27 | 28 | 0.9643 | -9 | c.*97 others(18): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 21/21 | 975 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIWIL3_chr22_24714034_24779720 | 24720259 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00741.hp1 others(112): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0034others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(107): Show |
115 | 166 | 0.6928 | -9 | c.235 others(26): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 19/20 | chr22 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24730253 | TACTTGGG others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02040.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0002others(3): Show | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(10): Show |
13 | 384 | 0.0339 | -9 | c.170 others(28): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 14/20 | chr22 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47796830 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(117): Show |
a0001a0002a0003others(33): Show | a0001c0006a0001c0007a0001c0013others(60): Show | a0001c0006t0001a0001c0007t0001a0001c0013t0001others(60): Show | a0001c0006t0001g0048 a0001c0006t0001g0116 a0001c0006t0001g0121 others(116): Show |
120 | 121 | 0.9917 | -9 | c.819 others(26): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 54/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47880263 | TACATATA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG01346.hp2 others(7): Show |
a0001a0013a0047others(1): Show | a0001c0008a0013c0057a0013c0127others(5): Show | a0001c0008t0001a0013c0057t0001a0013c0127t0001others(5): Show | a0001c0008t0001g0045 a0001c0008t0001g0051 a0001c0008t0001g0053 others(7): Show |
10 | 303 | 0.0330 | -9 | c.352 others(26): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47880264 | ACATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02004.hp2 HG02602.hp1 others(1): Show |
a0014a0028a0057others(1): Show | a0014c0076a0028c0049a0057c0091others(1): Show | a0014c0076t0001a0028c0049t0001a0057c0091t0001others(1): Show | a0014c0076t0001g0113 a0028c0049t0001g0195 a0057c0091t0001g0049 others(1): Show |
4 | 302 | 0.0132 | -9 | c.352 others(26): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47943164 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02895.hp2 others(4): Show |
a0020a0031a0032others(2): Show | a0020c0022a0020c0142a0031c0097others(3): Show | a0020c0022t0001a0020c0142t0003a0031c0097t0001others(3): Show | a0020c0022t0001g0226 a0020c0022t0001g0228 a0020c0142t0003g0234 others(4): Show |
7 | 254 | 0.0276 | -9 | c.160 others(24): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 2/56 | chr7 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71986914 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00609.hp2 others(26): Show |
a0001a0004 | a0001c0001a0001c0028a0001c0064others(5): Show | a0001c0001t0001a0001c0028t0001a0001c0064t0001others(5): Show | a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0185 others(26): Show |
29 | 84 | 0.3452 | -9 | c.586 others(24): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 4/29 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100299024 | CGCAACCT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(63): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0009others(12): Show | a0001c0001t0001a0002c0003t0001a0002c0009t0001others(12): Show | a0001c0001t0001g0263 a0001c0001t0001g0283 a0001c0001t0001g0284 others(60): Show |
66 | 304 | 0.2171 | -9 | c.478 others(24): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 3/15 | chr10 | TogoVar |