Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
PIK3R1 | 8979 | COSM6946641, | lung | carcinoma | p.D421Y | Substitution - Missense | 5:68293445-68293445, | PATHOGENIC | 0.99883 | 28481359 |
PIK3R1 | 8979 | COSM6958593, | pancreas | carcinoma | p.M1V | Substitution - Missense | 5:68226676-68226676, | PATHOGENIC | 0.99862 | 28481359 |
PIK3R1 | 8979 | COSM41124, | central_nervous_system | glioma | p.? | Unknown | 5:68295419-68295419, | PATHOGENIC | 0.99851 | 18772396 |
PIK3R1 | 8979 | COSM41124, | skin | malignant_melanoma | p.? | Unknown | 5:68295419-68295419, | PATHOGENIC | 0.99851 | 28481359 |
PIK3R1 | 8979 | COSM6937346, | stomach | carcinoma | p.R724* | Substitution - Nonsense | 5:68297596-68297596, | PATHOGENIC | 0.99849 | 28481359 |
PIK3R1 | 8979 | COSM6935759, | large_intestine | carcinoma | p.W583* | Substitution - Nonsense | 5:68295423-68295423, | PATHOGENIC | 0.99831 | 28481359 |
PIK3R1 | 8979 | COSM5760562, | central_nervous_system | glioma | p.? | Unknown | 5:68295419-68295419, | PATHOGENIC | 0.99823 | 26919320 |
PIK3R1 | 8979 | COSM5760562, | central_nervous_system | glioma | p.? | Unknown | 5:68295419-68295419, | PATHOGENIC | 0.99823 | 28481359 |
PIK3R1 | 8979 | COSM5760562, | endometrium | carcinoma | p.? | Unknown | 5:68295419-68295419, | PATHOGENIC | 0.99823 | 28481359 |
PIK3R1 | 8979 | COSM5760562, | prostate | carcinoma | p.? | Unknown | 5:68295419-68295419, | PATHOGENIC | 0.99823 | 28481359 |
PIK3R1 | 8979 | COSM35827, | central_nervous_system | glioma | p.G376R | Substitution - Missense | 5:68293310-68293310, | PATHOGENIC | 0.99822 | 28481359 |
PIK3R1 | 8979 | COSM35827, | central_nervous_system | glioma | p.G376R | Substitution - Missense | 5:68293310-68293310, | PATHOGENIC | 0.99822 | 28481359 |
PIK3R1 | 8979 | COSM35827, | central_nervous_system | glioma | p.G376R | Substitution - Missense | 5:68293310-68293310, | PATHOGENIC | 0.99822 | 28481359 |
PIK3R1 | 8979 | COSM35827, | central_nervous_system | glioma | p.G376R | Substitution - Missense | 5:68293310-68293310, | PATHOGENIC | 0.99822 | 28481359 |
PIK3R1 | 8979 | COSM35827, | central_nervous_system | glioma | p.G376R | Substitution - Missense | 5:68293310-68293310, | PATHOGENIC | 0.99822 | 28481359 |
PIK3R1 | 8979 | COSM35827, | central_nervous_system | glioma | p.G376R | Substitution - Missense | 5:68293310-68293310, | PATHOGENIC | 0.99822 | 18772396 |
PIK3R1 | 8979 | COSM35827, | large_intestine | carcinoma | p.G376R | Substitution - Missense | 5:68293310-68293310, | PATHOGENIC | 0.99822 | 28481359 |
PIK3R1 | 8979 | COSM35827, | lung | carcinoma | p.G376R | Substitution - Missense | 5:68293310-68293310, | PATHOGENIC | 0.99822 | 28481359 |
PIK3R1 | 8979 | COSM35827, | central_nervous_system | glioma | p.G376R | Substitution - Missense | 5:68293310-68293310, | PATHOGENIC | 0.99822 | 18772396 |
PIK3R1 | 8979 | COSM35827, | central_nervous_system | glioma | p.G376R | Substitution - Missense | 5:68293310-68293310, | PATHOGENIC | 0.99822 | 28481359 |
PIK3R1 | 8979 | COSM6956942, | skin | carcinoma | p.K587I | Substitution - Missense | 5:68295434-68295434, | PATHOGENIC | 0.99818 | 28481359 |
PIK3R1 | 8979 | COSM85889, | kidney | carcinoma | p.? | Unknown | 5:68295418-68295418, | PATHOGENIC | 0.99809 | 28481359 |
PIK3R1 | 8979 | COSM2155617, | soft_tissue | liposarcoma | p.K379E | Substitution - Missense | 5:68293319-68293319, | PATHOGENIC | 0.99801 | 28481359 |
PIK3R1 | 8979 | COSM6984406, | endometrium | carcinoma | p.V437L | Substitution - Missense | 5:68293718-68293718, | PATHOGENIC | 0.99791 | 28481359 |
PIK3R1 | 8979 | COSM6978024, | skin | malignant_melanoma | p.Q432* | Substitution - Nonsense | 5:68293478-68293478, | PATHOGENIC | 0.9978 | 28481359 |
PIK3R1 | 8979 | COSM6957994, | central_nervous_system | glioma | p.? | Unknown | 5:68293835-68293835, | PATHOGENIC | 0.99769 | 28481359 |
PIK3R1 | 8979 | COSM6969580, | lung | carcinoma | p.H407R | Substitution - Missense | 5:68293404-68293404, | PATHOGENIC | 0.99764 | 28481359 |
PIK3R1 | 8979 | COSM249900, | ovary | carcinoma | p.? | Unknown | 5:68293835-68293835, | PATHOGENIC | 0.99757 | 22214849 |
PIK3R1 | 8979 | COSM3856086, | prostate | carcinoma | p.? | Unknown | 5:68293835-68293835, | PATHOGENIC | 0.99726 | 28481359 |
PIK3R1 | 8979 | COSM6947171, | prostate | carcinoma | p.E596* | Substitution - Nonsense | 5:68295460-68295460, | PATHOGENIC | 0.9972 | 28481359 |
PIK3R1 | 8979 | COSM6979196, | kidney | carcinoma | p.Q586* | Substitution - Nonsense | 5:68295430-68295430, | PATHOGENIC | 0.99719 | 28481359 |
PIK3R1 | 8979 | COSM6979196, | kidney | carcinoma | p.Q586* | Substitution - Nonsense | 5:68295430-68295430, | PATHOGENIC | 0.99719 | 28481359 |
PIK3R1 | 8979 | COSM4877550, | skin | carcinoma | p.A360V | Substitution - Missense | 5:68293160-68293160, | PATHOGENIC | 0.99718 | 28481359 |
PIK3R1 | 8979 | COSM87220, | large_intestine | carcinoma | p.R358* | Substitution - Nonsense | 5:68293153-68293153, | PATHOGENIC | 0.99714 | 28481359 |
PIK3R1 | 8979 | COSM87220, | endometrium | carcinoma | p.R358* | Substitution - Nonsense | 5:68293153-68293153, | PATHOGENIC | 0.99714 | 21478295 |
PIK3R1 | 8979 | COSM87220, | large_intestine | carcinoma | p.R358* | Substitution - Nonsense | 5:68293153-68293153, | PATHOGENIC | 0.99714 | 28481359 |
PIK3R1 | 8979 | COSM87220, | large_intestine | carcinoma | p.R358* | Substitution - Nonsense | 5:68293153-68293153, | PATHOGENIC | 0.99714 | 28481359 |
PIK3R1 | 8979 | COSM87220, | large_intestine | carcinoma | p.R358* | Substitution - Nonsense | 5:68293153-68293153, | PATHOGENIC | 0.99714 | 23700467 |
PIK3R1 | 8979 | COSM6920262, | breast | carcinoma | p.? | Unknown | 5:68293708-68293708, | PATHOGENIC | 0.99705 | 28481359 |
PIK3R1 | 8979 | COSM6945963, | prostate | carcinoma | p.? | Unknown | 5:68293707-68293707, | PATHOGENIC | 0.99686 | 28481359 |
PIK3R1 | 8979 | COSM6951607, | ovary | carcinoma | p.? | Unknown | 5:68293707-68293707, | PATHOGENIC | 0.99671 | 28481359 |
PIK3R1 | 8979 | COSM6951607, | central_nervous_system | glioma | p.? | Unknown | 5:68293707-68293707, | PATHOGENIC | 0.99671 | 28481359 |
PIK3R1 | 8979 | COSM5609855, | skin | malignant_melanoma | p.Q591L | Substitution - Missense | 5:68295446-68295446, | PATHOGENIC | 0.99644 | 26343386 |
PIK3R1 | 8979 | COSM6935288, | endometrium | carcinoma | p.N441H | Substitution - Missense | 5:68293730-68293730, | PATHOGENIC | 0.99602 | 28481359 |
PIK3R1 | 8979 | COSM6971814, | large_intestine | carcinoma | p.E218* | Substitution - Nonsense | 5:68280545-68280545, | PATHOGENIC | 0.99558 | 28481359 |
PIK3R1 | 8979 | COSM5945952, | skin | malignant_melanoma | p.D352G | Substitution - Missense | 5:68293136-68293136, | PATHOGENIC | 0.99558 | 26744134 |
PIK3R1 | 8979 | COSM5868746, | NS | carcinoma | p.Q475* | Substitution - Nonsense | 5:68293832-68293832, | PATHOGENIC | 0.99545 | 28481359 |
PIK3R1 | 8979 | COSM6947044, | central_nervous_system | glioma | p.W597G | Substitution - Missense | 5:68295463-68295463, | PATHOGENIC | 0.9954 | 28481359 |
PIK3R1 | 8979 | COSM6951785, | central_nervous_system | glioma | p.E342K | Substitution - Missense | 5:68293105-68293105, | PATHOGENIC | 0.99537 | 28481359 |
PIK3R1 | 8979 | COSM5868743, | pancreas | carcinoma | p.G353R | Substitution - Missense | 5:68293138-68293138, | PATHOGENIC | 0.99537 | 27203738 |
PIK3R1 | 8979 | COSM6966414, | urinary_tract | carcinoma | p.E345K | Substitution - Missense | 5:68293114-68293114, | PATHOGENIC | 0.99537 | 28481359 |
PIK3R1 | 8979 | COSM6995472, | ovary | germ_cell_tumour | p.D394H | Substitution - Missense | 5:68293364-68293364, | PATHOGENIC | 0.99505 | 28954785 |
PIK3R1 | 8979 | COSM6940802, | prostate | carcinoma | p.M364I | Substitution - Missense | 5:68293173-68293173, | PATHOGENIC | 0.99502 | 28481359 |
PIK3R1 | 8979 | COSM94999, | breast | carcinoma | p.A634P | Substitution - Missense | 5:68296256-68296256, | PATHOGENIC | 0.99466 | 20668451 |
PIK3R1 | 8979 | COSM6919239, | large_intestine | carcinoma | p.K592N | Substitution - Missense | 5:68295450-68295450, | PATHOGENIC | 0.99418 | 28481359 |
PIK3R1 | 8979 | COSM6945434, | breast | carcinoma | p.E635* | Substitution - Nonsense | 5:68296259-68296259, | PATHOGENIC | 0.99416 | 28481359 |
PIK3R1 | 8979 | COSM6966391, | lung | carcinoma | p.D168G | Substitution - Missense | 5:68279602-68279602, | PATHOGENIC | 0.99412 | 28481359 |
PIK3R1 | 8979 | COSM87544, | urinary_tract | carcinoma | p.R574T | Substitution - Missense | 5:68295300-68295300, | PATHOGENIC | 0.99369 | 21533174 |
PIK3R1 | 8979 | COSM6920205, | lung | carcinoma | p.E403K | Substitution - Missense | 5:68293391-68293391, | PATHOGENIC | 0.99369 | 28481359 |
PIK3R1 | 8979 | COSM87544, | breast | carcinoma | p.R574T | Substitution - Missense | 5:68295300-68295300, | PATHOGENIC | 0.99369 | 20668451 |
PIK3R1 | 8979 | COSM6932411, | large_intestine | carcinoma | p.E683* | Substitution - Nonsense | 5:68297473-68297473, | PATHOGENIC | 0.99345 | 28481359 |
PIK3R1 | 8979 | COSM85930, | large_intestine | carcinoma | p.R649Q | Substitution - Missense | 5:68296302-68296302, | PATHOGENIC | 0.99333 | 19962665 |
PIK3R1 | 8979 | COSM1645452, | large_intestine | carcinoma | p.F268C | Substitution - Missense | 5:68280696-68280696, | PATHOGENIC | 0.99331 | 23700467 |
PIK3R1 | 8979 | COSM85927, | large_intestine | carcinoma | p.R574I | Substitution - Missense | 5:68295300-68295300, | PATHOGENIC | 0.99311 | 23680147 |
PIK3R1 | 8979 | COSM39583, | central_nervous_system | glioma | p.D464H | Substitution - Missense | 5:68293799-68293799, | PATHOGENIC | 0.99311 | 18772396 |
PIK3R1 | 8979 | COSM85927, | large_intestine | carcinoma | p.R574I | Substitution - Missense | 5:68295300-68295300, | PATHOGENIC | 0.99311 | 19962665 |
PIK3R1 | 8979 | COSM6975787, | skin | carcinoma | p.E284K | Substitution - Missense | 5:68280940-68280940, | PATHOGENIC | 0.99309 | 28481359 |
PIK3R1 | 8979 | COSM6961148, | pancreas | carcinoma | p.R481M | Substitution - Missense | 5:68294552-68294552, | PATHOGENIC | 0.99308 | 28481359 |
PIK3R1 | 8979 | COSM6940118, | large_intestine | carcinoma | p.E489* | Substitution - Nonsense | 5:68294575-68294575, | PATHOGENIC | 0.99308 | 28481359 |
PIK3R1 | 8979 | COSM35765, | breast | carcinoma | p.D560Y | Substitution - Missense | 5:68295257-68295257, | PATHOGENIC | 0.99262 | 28481359 |
PIK3R1 | 8979 | COSM35765, | large_intestine | carcinoma | p.D560Y | Substitution - Missense | 5:68295257-68295257, | PATHOGENIC | 0.99262 | 28481359 |
PIK3R1 | 8979 | COSM35765, | breast | carcinoma | p.D560Y | Substitution - Missense | 5:68295257-68295257, | PATHOGENIC | 0.99262 | 22538770 |
PIK3R1 | 8979 | COSM6950110, | skin | malignant_melanoma | p.E546* | Substitution - Nonsense | 5:68295215-68295215, | PATHOGENIC | 0.99262 | 28481359 |
PIK3R1 | 8979 | COSM85932, | large_intestine | carcinoma | p.E666K | Substitution - Missense | 5:68297422-68297422, | PATHOGENIC | 0.99257 | 19962665 |
PIK3R1 | 8979 | COSM6912658, | lung | carcinoma | p.E469* | Substitution - Nonsense | 5:68293814-68293814, | PATHOGENIC | 0.99257 | 28481359 |
PIK3R1 | 8979 | COSM6968601, | endometrium | carcinoma | p.E468* | Substitution - Nonsense | 5:68293811-68293811, | PATHOGENIC | 0.99257 | 28481359 |
PIK3R1 | 8979 | COSM6937072, | cervix | carcinoma | p.D620G | Substitution - Missense | 5:68296215-68296215, | PATHOGENIC | 0.9918 | 28481359 |
PIK3R1 | 8979 | COSM6915545, | large_intestine | carcinoma | p.E507* | Substitution - Nonsense | 5:68294629-68294629, | PATHOGENIC | 0.99135 | 28481359 |
PIK3R1 | 8979 | COSM87229, | endometrium | carcinoma | p.E495* | Substitution - Nonsense | 5:68294593-68294593, | PATHOGENIC | 0.99135 | 21478295 |
PIK3R1 | 8979 | COSM6952611, | urinary_tract | carcinoma | p.E614K | Substitution - Missense | 5:68296196-68296196, | PATHOGENIC | 0.99116 | 28481359 |
PIK3R1 | 8979 | COSM6944764, | central_nervous_system | glioma | p.T473P | Substitution - Missense | 5:68293826-68293826, | PATHOGENIC | 0.99109 | 28481359 |
PIK3R1 | 8979 | COSM5766196, | central_nervous_system | glioma | p.E518* | Substitution - Nonsense | 5:68294662-68294662, | PATHOGENIC | 0.99106 | 26919320 |
PIK3R1 | 8979 | COSM6960758, | stomach | carcinoma | p.N488D | Substitution - Missense | 5:68294572-68294572, | PATHOGENIC | 0.99071 | 28481359 |
PIK3R1 | 8979 | COSM6960758, | stomach | carcinoma | p.N488D | Substitution - Missense | 5:68294572-68294572, | PATHOGENIC | 0.99071 | 28481359 |
PIK3R1 | 8979 | COSM5609852, | skin | malignant_melanoma | p.H385Y | Substitution - Missense | 5:68293337-68293337, | PATHOGENIC | 0.99056 | 26343386 |
PIK3R1 | 8979 | COSM5609852, | NS | malignant_melanoma | p.H385Y | Substitution - Missense | 5:68293337-68293337, | PATHOGENIC | 0.99056 | 28481359 |
PIK3R1 | 8979 | COSM1069611, | large_intestine | carcinoma | p.K567E | Substitution - Missense | 5:68295278-68295278, | PATHOGENIC | 0.99051 | 28481359 |
PIK3R1 | 8979 | COSM1069611, | salivary_gland | carcinoma | p.K567E | Substitution - Missense | 5:68295278-68295278, | PATHOGENIC | 0.99051 | 27334835 |
PIK3R1 | 8979 | COSM1069611, | endometrium | carcinoma | p.K567E | Substitution - Missense | 5:68295278-68295278, | PATHOGENIC | 0.99051 | 28481359 |
PIK3R1 | 8979 | COSM1069611, | endometrium | carcinoma | p.K567E | Substitution - Missense | 5:68295278-68295278, | PATHOGENIC | 0.99051 | 28485815 |
PIK3R1 | 8979 | COSM1069611, | large_intestine | carcinoma | p.K567E | Substitution - Missense | 5:68295278-68295278, | PATHOGENIC | 0.99051 | 28481359 |
PIK3R1 | 8979 | COSM1069611, | upper_aerodigestive_tract | carcinoma | p.K567E | Substitution - Missense | 5:68295278-68295278, | PATHOGENIC | 0.99051 | 25056374 |
PIK3R1 | 8979 | COSM1069611, | endometrium | carcinoma | p.K567E | Substitution - Missense | 5:68295278-68295278, | PATHOGENIC | 0.99051 | 28481359 |
PIK3R1 | 8979 | COSM1069611, | large_intestine | carcinoma | p.K567E | Substitution - Missense | 5:68295278-68295278, | PATHOGENIC | 0.99051 | 28481359 |
PIK3R1 | 8979 | COSM6954716, | lung | carcinoma | p.D569G | Substitution - Missense | 5:68295285-68295285, | PATHOGENIC | 0.99051 | 28481359 |
PIK3R1 | 8979 | COSM1069611, | large_intestine | carcinoma | p.K567E | Substitution - Missense | 5:68295278-68295278, | PATHOGENIC | 0.99051 | 28481359 |
PIK3R1 | 8979 | COSM1069611, | central_nervous_system | glioma | p.K567E | Substitution - Missense | 5:68295278-68295278, | PATHOGENIC | 0.99051 | 28481359 |
PIK3R1 | 8979 | COSM6913413, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q241* | Substitution - Nonsense | 5:68280614-68280614, | PATHOGENIC | 0.99047 | 28481359 |
PIK3R1 | 8979 | COSM6913413, | urinary_tract | carcinoma | p.Q241* | Substitution - Nonsense | 5:68280614-68280614, | PATHOGENIC | 0.99047 | 28481359 |
PIK3R1 | 8979 | COSM6919242, | large_intestine | carcinoma | p.S709Y | Substitution - Missense | 5:68297552-68297552, | PATHOGENIC | 0.9904 | 28481359 |
PIK3R1 | 8979 | COSM42912, | central_nervous_system | glioma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28481359 |
PIK3R1 | 8979 | COSM42912, | central_nervous_system | glioma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28481359 |
PIK3R1 | 8979 | COSM42912, | salivary_gland | carcinoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 27334835 |
PIK3R1 | 8979 | COSM42912, | soft_tissue | synovial_sarcoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28481359 |
PIK3R1 | 8979 | COSM42912, | central_nervous_system | glioma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28481359 |
PIK3R1 | 8979 | COSM42912, | central_nervous_system | glioma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28481359 |
PIK3R1 | 8979 | COSM42912, | large_intestine | carcinoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 19962665 |
PIK3R1 | 8979 | COSM42912, | endometrium | carcinoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28485815 |
PIK3R1 | 8979 | COSM42912, | large_intestine | carcinoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28481359 |
PIK3R1 | 8979 | COSM42912, | stomach | carcinoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 26489445 |
PIK3R1 | 8979 | COSM42912, | lung | carcinoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28481359 |
PIK3R1 | 8979 | COSM42912, | endometrium | carcinoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 21478295 |
PIK3R1 | 8979 | COSM42912, | endometrium | carcinoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28481359 |
PIK3R1 | 8979 | COSM42912, | large_intestine | carcinoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28481359 |
PIK3R1 | 8979 | COSM42912, | large_intestine | carcinoma | p.N564D | Substitution - Missense | 5:68295269-68295269, | PATHOGENIC | 0.99037 | 28481359 |
PIK3R1 | 8979 | COSM39403, | central_nervous_system | glioma | p.K459E | Substitution - Missense | 5:68293784-68293784, | PATHOGENIC | 0.99034 | 18772396 |
PIK3R1 | 8979 | COSM6927471, | central_nervous_system | glioma | p.E510K | Substitution - Missense | 5:68294638-68294638, | PATHOGENIC | 0.99026 | 28481359 |
PIK3R1 | 8979 | COSM6937429, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | 5:68280730-68280730, | PATHOGENIC | 0.98964 | 28481359 |
PIK3R1 | 8979 | COSM6941357, | large_intestine | carcinoma | p.N527D | Substitution - Missense | 5:68295158-68295158, | PATHOGENIC | 0.98948 | 28481359 |
PIK3R1 | 8979 | COSM1438323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D560G | Substitution - Missense | 5:68295258-68295258, | PATHOGENIC | 0.98948 | 28481359 |
PIK3R1 | 8979 | COSM87235, | endometrium | carcinoma | p.D548G | Substitution - Missense | 5:68295222-68295222, | PATHOGENIC | 0.98948 | 21478295 |
PIK3R1 | 8979 | COSM6969915, | liver | carcinoma | p.R523K | Substitution - Missense | 5:68294678-68294678, | PATHOGENIC | 0.98908 | 28481359 |
PIK3R1 | 8979 | COSM327132, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q455K | Substitution - Missense | 5:68293772-68293772, | PATHOGENIC | 0.98818 | 22675565 |
PIK3R1 | 8979 | COSM6969395, | endometrium | carcinoma | p.P717S | Substitution - Missense | 5:68297575-68297575, | PATHOGENIC | 0.98758 | 28481359 |
PIK3R1 | 8979 | COSM6965407, | endometrium | carcinoma | p.Q721* | Substitution - Nonsense | 5:68297587-68297587, | PATHOGENIC | 0.98758 | 28481359 |
PIK3R1 | 8979 | COSM6932328, | large_intestine | carcinoma | p.H697Y | Substitution - Missense | 5:68297515-68297515, | PATHOGENIC | 0.9875 | 28481359 |
PIK3R1 | 8979 | COSM6928921, | central_nervous_system | glioma | p.E601K | Substitution - Missense | 5:68295475-68295475, | PATHOGENIC | 0.98717 | 28481359 |
PIK3R1 | 8979 | COSM257732, | skin | malignant_melanoma | p.R386* | Substitution - Nonsense | 5:68293340-68293340, | PATHOGENIC | 0.98695 | 28481359 |
PIK3R1 | 8979 | COSM6941886, | breast | carcinoma | p.L647V | Substitution - Missense | 5:68296295-68296295, | PATHOGENIC | 0.98682 | 28481359 |
PIK3R1 | 8979 | COSM5609858, | skin | malignant_melanoma | p.L570H | Substitution - Missense | 5:68295288-68295288, | PATHOGENIC | 0.9865 | 26343386 |
PIK3R1 | 8979 | COSM6911220, | endometrium | carcinoma | p.Y580N | Substitution - Missense | 5:68295317-68295317, | PATHOGENIC | 0.9865 | 28481359 |
PIK3R1 | 8979 | COSM5766197, | central_nervous_system | glioma | p.L449* | Substitution - Nonsense | 5:68293755-68293755, | PATHOGENIC | 0.98643 | 26919320 |
PIK3R1 | 8979 | COSM6913486, | skin | carcinoma | p.Q478* | Substitution - Nonsense | 5:68294542-68294542, | PATHOGENIC | 0.986 | 28481359 |
PIK3R1 | 8979 | COSM85933, | large_intestine | carcinoma | p.A682V | Substitution - Missense | 5:68297471-68297471, | PATHOGENIC | 0.98589 | 19962665 |
PIK3R1 | 8979 | COSM6951151, | cervix | carcinoma | p.S690F | Substitution - Missense | 5:68297495-68297495, | PATHOGENIC | 0.98589 | 28481359 |
PIK3R1 | 8979 | COSM6957358, | penis | carcinoma | p.R590W | Substitution - Missense | 5:68295442-68295442, | PATHOGENIC | 0.98557 | 28481359 |
PIK3R1 | 8979 | COSM40940, | endometrium | carcinoma | p.L570P | Substitution - Missense | 5:68295288-68295288, | PATHOGENIC | 0.98459 | 28481359 |
PIK3R1 | 8979 | COSM40940, | central_nervous_system | glioma | p.L570P | Substitution - Missense | 5:68295288-68295288, | PATHOGENIC | 0.98459 | 28481359 |
PIK3R1 | 8979 | COSM40940, | central_nervous_system | glioma | p.L570P | Substitution - Missense | 5:68295288-68295288, | PATHOGENIC | 0.98459 | 18772396 |
PIK3R1 | 8979 | COSM1069619, | endometrium | carcinoma | p.L573P | Substitution - Missense | 5:68295297-68295297, | PATHOGENIC | 0.98459 | 28485815 |
PIK3R1 | 8979 | COSM1069619, | large_intestine | carcinoma | p.L573P | Substitution - Missense | 5:68295297-68295297, | PATHOGENIC | 0.98459 | 28481359 |
PIK3R1 | 8979 | COSM6980078, | large_intestine | carcinoma | p.A331V | Substitution - Missense | 5:68292334-68292334, | PATHOGENIC | 0.98451 | 28481359 |
PIK3R1 | 8979 | COSM6957987, | endometrium | carcinoma | p.L584F | Substitution - Missense | 5:68295426-68295426, | PATHOGENIC | 0.98444 | 28481359 |
PIK3R1 | 8979 | COSM6952187, | large_intestine | carcinoma | p.D615Y | Substitution - Missense | 5:68296199-68296199, | PATHOGENIC | 0.98404 | 28481359 |
PIK3R1 | 8979 | COSM87232, | endometrium | carcinoma | p.Y334* | Substitution - Nonsense | 5:68292344-68292344, | PATHOGENIC | 0.98389 | 21478295 |
PIK3R1 | 8979 | COSM85936, | breast | carcinoma | p.L449S | Substitution - Missense | 5:68293755-68293755, | PATHOGENIC | 0.98363 | 19962665 |
PIK3R1 | 8979 | COSM6971168, | lung | carcinoma | p.W333R | Substitution - Missense | 5:68292339-68292339, | PATHOGENIC | 0.98324 | 28481359 |
PIK3R1 | 8979 | COSM1645453, | large_intestine | carcinoma | p.F268L | Substitution - Missense | 5:68280697-68280697, | PATHOGENIC | 0.9797 | 23700467 |
PIK3R1 | 8979 | COSM1717421, | breast | carcinoma | p.R642L | Substitution - Missense | 5:68296281-68296281, | PATHOGENIC | 0.97875 | 24229379 |
PIK3R1 | 8979 | COSM6930170, | urinary_tract | carcinoma | p.E140K | Substitution - Missense | 5:68273473-68273473, | PATHOGENIC | 0.97578 | 28481359 |
PIK3R1 | 8979 | COSM6930170, | lung | carcinoma | p.E140K | Substitution - Missense | 5:68273473-68273473, | PATHOGENIC | 0.97578 | 28481359 |
PIK3R1 | 8979 | COSM5945951, | skin | malignant_melanoma | p.E137G | Substitution - Missense | 5:68273465-68273465, | PATHOGENIC | 0.97521 | 26744134 |
PIK3R1 | 8979 | COSM6935287, | endometrium | carcinoma | p.S229L | Substitution - Missense | 5:68280579-68280579, | PATHOGENIC | 0.97187 | 28481359 |
PIK3R1 | 8979 | COSM6955995, | breast | carcinoma | p.R562P | Substitution - Missense | 5:68295264-68295264, | PATHOGENIC | 0.97111 | 28481359 |
PIK3R1 | 8979 | COSM1581456, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A210D | Substitution - Missense | 5:68279728-68279728, | PATHOGENIC | 0.96987 | 23292937 |
PIK3R1 | 8979 | COSM85926, | large_intestine | carcinoma | p.R348* | Substitution - Nonsense | 5:68293123-68293123, | PATHOGENIC | 0.9674 | 19962665 |
PIK3R1 | 8979 | COSM85926, | large_intestine | carcinoma | p.R348* | Substitution - Nonsense | 5:68293123-68293123, | PATHOGENIC | 0.9674 | 28481359 |
PIK3R1 | 8979 | COSM85926, | large_intestine | carcinoma | p.R348* | Substitution - Nonsense | 5:68293123-68293123, | PATHOGENIC | 0.9674 | 19962665 |
PIK3R1 | 8979 | COSM85926, | large_intestine | carcinoma | p.R348* | Substitution - Nonsense | 5:68293123-68293123, | PATHOGENIC | 0.9674 | 28481359 |
PIK3R1 | 8979 | COSM85926, | skin | carcinoma | p.R348* | Substitution - Nonsense | 5:68293123-68293123, | PATHOGENIC | 0.9674 | 25589618 |
PIK3R1 | 8979 | COSM85926, | large_intestine | carcinoma | p.R348* | Substitution - Nonsense | 5:68293123-68293123, | PATHOGENIC | 0.9674 | 23680147 |
PIK3R1 | 8979 | COSM85926, | endometrium | carcinoma | p.R348* | Substitution - Nonsense | 5:68293123-68293123, | PATHOGENIC | 0.9674 | 21478295 |
PIK3R1 | 8979 | COSM85926, | endometrium | carcinoma | p.R348* | Substitution - Nonsense | 5:68293123-68293123, | PATHOGENIC | 0.9674 | 21478295 |
PIK3R1 | 8979 | COSM85937, | large_intestine | carcinoma | p.R543I | Substitution - Missense | 5:68295207-68295207, | PATHOGENIC | 0.96364 | 19962665 |
PIK3R1 | 8979 | COSM4413604, | endometrium | carcinoma | p.Y698* | Substitution - Nonsense | 5:68297520-68297520, | PATHOGENIC | 0.96096 | 25308272 |
PIK3R1 | 8979 | COSM6971613, | skin | carcinoma | p.Y203C | Substitution - Missense | 5:68279707-68279707, | PATHOGENIC | 0.95924 | 28481359 |
PIK3R1 | 8979 | COSM6909497, | urinary_tract | carcinoma | p.A277P | Substitution - Missense | 5:68280722-68280722, | PATHOGENIC | 0.95676 | 28481359 |
PIK3R1 | 8979 | COSM6904275, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R523S | Substitution - Missense | 5:68295148-68295148, | PATHOGENIC | 0.95103 | 27248180 |
PIK3R1 | 8979 | COSM6930387, | lung | carcinoma | p.D126Y | Substitution - Missense | 5:68273431-68273431, | PATHOGENIC | 0.94932 | 28481359 |
PIK3R1 | 8979 | COSM6974678, | large_intestine | carcinoma | p.F247L | Substitution - Missense | 5:68280634-68280634, | PATHOGENIC | 0.9493 | 28481359 |
PIK3R1 | 8979 | COSM6975487, | large_intestine | carcinoma | p.L449I | Substitution - Missense | 5:68293754-68293754, | PATHOGENIC | 0.94803 | 28481359 |
PIK3R1 | 8979 | COSM6946640, | lung | carcinoma | p.R262G | Substitution - Missense | 5:68280677-68280677, | PATHOGENIC | 0.94489 | 28481359 |
PIK3R1 | 8979 | COSM3727824, | upper_aerodigestive_tract | carcinoma | p.M326I | Substitution - Missense | 5:68292320-68292320, | PATHOGENIC | 0.94368 | 24667986 |
PIK3R1 | 8979 | COSM3727824, | breast | carcinoma | p.M326I | Substitution - Missense | 5:68292320-68292320, | PATHOGENIC | 0.94368 | 28270497 |
PIK3R1 | 8979 | COSM3071985, | prostate | carcinoma | p.R639* | Substitution - Nonsense | 5:68296271-68296271, | PATHOGENIC | 0.94286 | 20579941 |
PIK3R1 | 8979 | COSM3071985, | prostate | carcinoma | p.R639* | Substitution - Nonsense | 5:68296271-68296271, | PATHOGENIC | 0.94286 | 20579941 |
PIK3R1 | 8979 | COSM3071985, | prostate | carcinoma | p.R639* | Substitution - Nonsense | 5:68296271-68296271, | PATHOGENIC | 0.94286 | 20579941 |
PIK3R1 | 8979 | COSM3071985, | large_intestine | carcinoma | p.R639* | Substitution - Nonsense | 5:68296271-68296271, | PATHOGENIC | 0.94286 | 28481359 |
PIK3R1 | 8979 | COSM3975610, | breast | carcinoma | p.A185T | Substitution - Missense | 5:68279652-68279652, | PATHOGENIC | 0.93885 | 28270497 |
PIK3R1 | 8979 | COSM3617617, | central_nervous_system | glioma | p.Y463* | Substitution - Nonsense | 5:68293798-68293798, | PATHOGENIC | 0.93637 | 28481359 |
PIK3R1 | 8979 | COSM87233, | endometrium | carcinoma | p.R301* | Substitution - Nonsense | 5:68280991-68280991, | PATHOGENIC | 0.9352 | 21478295 |
PIK3R1 | 8979 | COSM6980330, | kidney | carcinoma | p.T148I | Substitution - Missense | 5:68273954-68273954, | PATHOGENIC | 0.93007 | 28481359 |
PIK3R1 | 8979 | COSM6966307, | breast | carcinoma | p.R465* | Substitution - Nonsense | 5:68293802-68293802, | PATHOGENIC | 0.92919 | 28481359 |
PIK3R1 | 8979 | COSM6912989, | lung | carcinoma | p.Q214L | Substitution - Missense | 5:68280534-68280534, | PATHOGENIC | 0.92742 | 28481359 |
PIK3R1 | 8979 | COSM5836057, | central_nervous_system | glioma | p.P116T | Substitution - Missense | 5:68273401-68273401, | PATHOGENIC | 0.92466 | 26919320 |
PIK3R1 | 8979 | COSM3429594, | large_intestine | carcinoma | p.S208Y | Substitution - Missense | 5:68279722-68279722, | PATHOGENIC | 0.92236 | 28481359 |
PIK3R1 | 8979 | COSM3429594, | endometrium | carcinoma | p.S208Y | Substitution - Missense | 5:68279722-68279722, | PATHOGENIC | 0.92236 | 28481359 |
PIK3R1 | 8979 | COSM6949112, | skin | carcinoma | p.S254F | Substitution - Missense | 5:68280654-68280654, | PATHOGENIC | 0.91712 | 28481359 |
PIK3R1 | 8979 | COSM6968479, | central_nervous_system | glioma | p.T283I | Substitution - Missense | 5:68280938-68280938, | PATHOGENIC | 0.91494 | 28481359 |
PIK3R1 | 8979 | COSM5356390, | endometrium | carcinoma | p.R503W | Substitution - Missense | 5:68294617-68294617, | PATHOGENIC | 0.9145 | 28481359 |
PIK3R1 | 8979 | COSM85931, | large_intestine | carcinoma | p.R642* | Substitution - Nonsense | 5:68296280-68296280, | PATHOGENIC | 0.91404 | 19962665 |
PIK3R1 | 8979 | COSM85931, | skin | carcinoma | p.R642* | Substitution - Nonsense | 5:68296280-68296280, | PATHOGENIC | 0.91404 | 28481359 |
PIK3R1 | 8979 | COSM5609861, | skin | malignant_melanoma | p.S147L | Substitution - Missense | 5:68273951-68273951, | PATHOGENIC | 0.90457 | 26343386 |
PIK3R1 | 8979 | COSM85928, | large_intestine | carcinoma | p.N527K | Substitution - Missense | 5:68295160-68295160, | PATHOGENIC | 0.90016 | 19962665 |
PIK3R1 | 8979 | COSM6921639, | prostate | carcinoma | p.N157H | Substitution - Missense | 5:68273980-68273980, | PATHOGENIC | 0.89157 | 28481359 |
PIK3R1 | 8979 | COSM6965694, | endometrium | carcinoma | p.F646L | Substitution - Missense | 5:68296294-68296294, | PATHOGENIC | 0.88975 | 28481359 |
PIK3R1 | 8979 | COSM1695845, | central_nervous_system | glioma | p.R557* | Substitution - Nonsense | 5:68295248-68295248, | PATHOGENIC | 0.88855 | 28481359 |
PIK3R1 | 8979 | COSM1695845, | skin | malignant_melanoma | p.R557* | Substitution - Nonsense | 5:68295248-68295248, | PATHOGENIC | 0.88855 | 26343386 |
PIK3R1 | 8979 | COSM1695845, | large_intestine | carcinoma | p.R557* | Substitution - Nonsense | 5:68295248-68295248, | PATHOGENIC | 0.88855 | 28481359 |
PIK3R1 | 8979 | COSM6932327, | large_intestine | carcinoma | p.A183T | Substitution - Missense | 5:68279646-68279646, | PATHOGENIC | 0.88778 | 28481359 |
PIK3R1 | 8979 | COSM6937716, | urinary_tract | carcinoma | p.E120D | Substitution - Missense | 5:68273415-68273415, | PATHOGENIC | 0.88043 | 28481359 |
PIK3R1 | 8979 | COSM87226, | endometrium | carcinoma | p.C498* | Substitution - Nonsense | 5:68294604-68294604, | PATHOGENIC | 0.87361 | 21478295 |
PIK3R1 | 8979 | COSM6982684, | endometrium | carcinoma | p.L616V | Substitution - Missense | 5:68296202-68296202, | PATHOGENIC | 0.87005 | 28481359 |
PIK3R1 | 8979 | COSM87241, | endometrium | carcinoma | p.D434_Q475del | Deletion - In frame | 5:68293836-68293836, | PATHOGENIC | 0.86427 | 21478295 |
PIK3R1 | 8979 | COSM87241, | skin | malignant_melanoma | p.D434_Q475del | Deletion - In frame | 5:68293836-68293836, | PATHOGENIC | 0.86427 | 28481359 |
PIK3R1 | 8979 | COSM6980936, | lung | carcinoma | p.L209F | Substitution - Missense | 5:68279726-68279726, | PATHOGENIC | 0.86402 | 28481359 |
PIK3R1 | 8979 | COSM6980936, | lung | carcinoma | p.L209F | Substitution - Missense | 5:68279726-68279726, | PATHOGENIC | 0.86402 | 28481359 |
PIK3R1 | 8979 | COSM6986093, | breast | carcinoma | p.I133M | Substitution - Missense | 5:68273454-68273454, | PATHOGENIC | 0.8511 | 28481359 |
PIK3R1 | 8979 | COSM327131, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T454I | Substitution - Missense | 5:68293770-68293770, | PATHOGENIC | 0.84329 | 22675565 |
PIK3R1 | 8979 | COSM5019326, | soft_tissue | haemangioblastoma | p.I207I | Substitution - coding silent | 5:68279720-68279720, | PATHOGENIC | 0.82709 | 25589003 |
PIK3R1 | 8979 | COSM5019326, | soft_tissue | haemangioblastoma | p.I207I | Substitution - coding silent | 5:68279720-68279720, | PATHOGENIC | 0.82709 | 25589003 |
PIK3R1 | 8979 | COSM85934, | large_intestine | carcinoma | p.R162* | Substitution - Nonsense | 5:68273995-68273995, | PATHOGENIC | 0.79909 | 19962665 |
PIK3R1 | 8979 | COSM87237, | endometrium | carcinoma | p.Q475_E476>IMLQ | Complex - insertion inframe | 5:68294523-68294523, | PATHOGENIC | 0.7737 | 21478295 |
PIK3R1 | 8979 | COSM43181, | large_intestine | carcinoma | p.R461* | Substitution - Nonsense | 5:68293790-68293790, | PATHOGENIC | 0.72335 | 28481359 |
PIK3R1 | 8979 | COSM5609849, | skin | malignant_melanoma | p.R649R | Substitution - coding silent | 5:68296303-68296303, | NEUTRAL | 0.47115 | 26343386 |
PIK3R1 | 8979 | COSM6444825, | endometrium | carcinoma | p.I220T | Substitution - Missense | 5:68280552-68280552, | NEUTRAL | 0.44253 | 27159395 |
PIK3R1 | 8979 | COSM6444825, | endometrium | carcinoma | p.I220T | Substitution - Missense | 5:68280552-68280552, | NEUTRAL | 0.44253 | 27159395 |
PIK3R1 | 8979 | COSM87242, | endometrium | carcinoma | p.? | Unknown | 5:68294515-68294515, | NEUTRAL | 0.20149 | 21478295 |
PIK3R1 | 8979 | COSM85925, | large_intestine | carcinoma | p.N285H | Substitution - Missense | 5:68280943-68280943, | NEUTRAL | 0.19591 | 19962665 |
PIK3R1 | 8979 | COSM6933741, | lung | carcinoma | p.T169A | Substitution - Missense | 5:68279604-68279604, | NEUTRAL | 0.03541 | 28481359 |
PIK3R1 | 8979 | COSM4604513, | upper_aerodigestive_tract | carcinoma | p.T576T | Substitution - coding silent | 5:68295307-68295307, | NEUTRAL | 0.03347 | 25056374 |
PIK3R1 | 8979 | COSM87243, | endometrium | carcinoma | p.? | Unknown | 5:68293278-68293278, | NEUTRAL | 0.03288 | 21478295 |
PIK3R1 | 8979 | COSM4407349, | soft_tissue | haemangioblastoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 25589003 |
PIK3R1 | 8979 | COSM4407349, | breast | carcinoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 28270497 |
PIK3R1 | 8979 | COSM4407349, | soft_tissue | haemangioblastoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 25589003 |
PIK3R1 | 8979 | COSM4407349, | soft_tissue | haemangioblastoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 25589003 |
PIK3R1 | 8979 | COSM4407349, | soft_tissue | haemangioblastoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 25589003 |
PIK3R1 | 8979 | COSM4407349, | soft_tissue | haemangioblastoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 25589003 |
PIK3R1 | 8979 | COSM4407349, | soft_tissue | haemangioblastoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 25589003 |
PIK3R1 | 8979 | COSM4407349, | soft_tissue | haemangioblastoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 25589003 |
PIK3R1 | 8979 | COSM4407349, | soft_tissue | haemangioblastoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 25589003 |
PIK3R1 | 8979 | COSM4407349, | soft_tissue | haemangioblastoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 25589003 |
PIK3R1 | 8979 | COSM4407349, | soft_tissue | haemangioblastoma | p.Y73Y | Substitution - coding silent | 5:68226894-68226894, | NEUTRAL | 0.02949 | 25589003 |
PIK3R1 | 8979 | COSM6849505, | ovary | carcinoma | p.S295*, p.V445E | Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 28125452 |
PIK3R1 | 8979 | COSM5991643, | breast | carcinoma | p.Y580fs*19 | Frameshift | Info_not_available | Info_not_available | Info_not_available | 25927147 |
PIK3R1 | 8979 | COSM6024551, | NS | carcinoma | p.G599fs*63, p.K448fs*32, p.N564D | Frameshift, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26182302 |
PIK3R1 | 8979 | COSM5977617, | central_nervous_system | glioma | p.? | Unknown | 5:68295324-68295325, | Info_not_available | Info_not_available | 26487540 |
PIK3R1 | 8979 | COSM5352304, | endometrium | carcinoma | p.?fs*?, p.A277T, p.L637M | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 26492180 |
PIK3R1 | 8979 | COSM132926, | breast | hyperplasia | p.K567E | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26718977 |
PIK3R1 | 8979 | COSM5878513, | central_nervous_system | glioma | p.?, p.?_?del | Deletion - In frame, Unknown | Info_not_available | Info_not_available | Info_not_available | 26919320 |
PIK3R1 | 8979 | COSM5881435, | endometrium | carcinoma | p.?fs*?, p.Q579Y | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 27170661 |
PIK3R1 | 8979 | COSM6865942, | breast | carcinoma | p.E451_Y452>G, p.I571_Q572del, p.S460fs*5 | Complex - deletion inframe, Deletion - In frame, Insertion - Frameshift | 5:68295290-68295295, | Info_not_available | Info_not_available | 27284958 |
PIK3R1 | 8979 | COSM5967130, | salivary_gland | carcinoma | p.? | Unknown | 5:68295325-68295326, | Info_not_available | Info_not_available | 27334835 |
PIK3R1 | 8979 | COSM5967250, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M582T | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27449473 |
PIK3R1 | 8979 | COSM6023859, | upper_aerodigestive_tract | carcinoma | p.?, p.D569_L570insPD | Insertion - In frame, Unknown | 5:68295287-68295288, | Info_not_available | Info_not_available | 25850957 |
PIK3R1 | 8979 | COSM318378, | breast | carcinoma | p.E462_R465delEYDR | Deletion - In frame | 5:68293791-68293802, | Info_not_available | Info_not_available | 28270497 |
PIK3R1 | 8979 | COSM43200, | kidney | Wilms_tumour | p.R557_K561>Q | Complex - deletion inframe | 5:68295249-68295260, | Info_not_available | Info_not_available | 28326956 |
PIK3R1 | 8979 | COSM6842056, | large_intestine | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 28465371 |
PIK3R1 | 8979 | COSM6904348, | endometrium | carcinoma | p.A444_L449del, p.L380fs*16, p.N453_Q455del | Deletion - Frameshift, Deletion - In frame | 5:68293766-68293774, | Info_not_available | Info_not_available | 28485815 |
PIK3R1 | 8979 | COSM6444623, | breast | other | p.L347del | Deletion - In frame | 5:68293121-68293123, | Info_not_available | Info_not_available | 28513873 |
PIK3R1 | 8979 | COSM6908609, | upper_aerodigestive_tract | carcinoma | p.L637fs*25 | Deletion - Frameshift | 5:68296265-68296265, | Info_not_available | Info_not_available | 28581676 |
PIK3R1 | 8979 | COSM5752295, | breast | carcinoma | p.? | Unknown | 5:68295317-68295326, | Info_not_available | Info_not_available | 28685160 |
PIK3R1 | 8979 | COSM5945733, | breast | carcinoma | p.E451_Y452del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 28921573 |
PIK3R1 | 8979 | COSM6906745, | breast, endometrium, large_intestine | carcinoma | p.L449_H450>Y, p.P568_T576delPDLIQLRKT, p.S460delS, p.V436fs*8 | Complex - deletion inframe, Deletion - Frameshift, Deletion - In frame | 5:68295282-68295308, | Info_not_available | Info_not_available | 29420467 |
PIK3R1 | 8979 | COSM54575, | breast, central_nervous_system | carcinoma, glioma | p.453_454insN, p.L380del | Deletion - In frame, Insertion - In frame | 5:68293767-68293768, | Info_not_available | Info_not_available | Info_not_available |
PIK3R1 | 8979 | COSM249901, | ovary | carcinoma | p.?, p.E403_I405>D, p.N564fs*? | Complex - deletion inframe, Unknown | 5:68294534-68294535, | Info_not_available | Info_not_available | 22214849 |
PIK3R1 | 8979 | COSM85888, | large_intestine, ovary | carcinoma | p.?, p.L570_D578del, p.L570_Q572del, p.M582_D605>I | Complex - deletion inframe, Deletion - In frame, Unknown | 5:68295488-68295491, | Info_not_available | Info_not_available | 11606375 |
PIK3R1 | 8979 | COSM85939, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N636fs*26 | Deletion - Frameshift | 5:68296263-68296263, | Info_not_available | Info_not_available | 11986952 |
PIK3R1 | 8979 | COSM85883, | central_nervous_system | glioma | p.Y580fs*1 | Deletion - Frameshift | 5:68295319-68295599, | Info_not_available | Info_not_available | 15605984 |
PIK3R1 | 8979 | COSM33546, | breast | carcinoma | p.N453_T454insN | Insertion - In frame | 5:68293767-68293768, | Info_not_available | Info_not_available | 16959974 |
PIK3R1 | 8979 | COSM43347, | skin | carcinoma | p.Q579fs*23 | Insertion - Frameshift | 5:68295314-68295315, | Info_not_available | Info_not_available | 19634059 |
PIK3R1 | 8979 | COSM85938, | large_intestine, pancreas | carcinoma | p.I381fs*15, p.K668_H669insLK | Deletion - Frameshift, Insertion - In frame | 5:68297431-68297432, | Info_not_available | Info_not_available | 19962665 |
PIK3R1 | 8979 | COSM87240, | endometrium | carcinoma | p.?, p.D434_Q475del, p.D464fs*2, p.E451_Y452del, p.F456_R461>S, p.F456_R461del, p.H450_E451del, p.K459del, p.K511fs*2, p.Q457_R461del, p.Q475_E476>VLQ, p.R542del, p.R574_T576del, p.R577_M582>K, p.S460fs*5, p.S702fs*26, p.T454_D464del, p.Y463_L466del, p.Y463fs*1 | Complex - deletion inframe, Complex - insertion inframe, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Unknown | 5:68297529-68297530, | Info_not_available | Info_not_available | 21478295 |
PIK3R1 | 8979 | COSM132929, | endometrium | carcinoma | p.G376R, p.K567E, p.L570P, p.N260S, p.R386G, p.R557_D560del, p.R639*, p.S460fs*?, p.T473S, p.Y467_E468insGEYDRLYE | Deletion - In frame, Frameshift, Insertion - In frame, Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 21984976 |
PIK3R1 | 8979 | COSM5025133, | breast | carcinoma | p.L380fs*16 | Deletion - Frameshift | 5:68293320-68293323, | Info_not_available | Info_not_available | 25850943 |
PIK3R1 | 8979 | COSM1155748, | skin | malignant_melanoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 22912864 |
PIK3R1 | 8979 | COSM1716345, | endometrium | carcinoma | p.A331V, p.H180fs*?, p.K567E, p.L570P, p.N260S, p.Q586fs*?, p.R386G, p.R557_K561>Q, p.S460fs*?, p.Y467_E468insGEYDRLYE | Complex - deletion inframe, Frameshift, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 23674493 |
PIK3R1 | 8979 | COSM3736943, | skin | malignant_melanoma | p.D464_E468>E | Complex - deletion inframe | 5:68293801-68293812, | Info_not_available | Info_not_available | 23851445 |
PIK3R1 | 8979 | COSM3734746, | urinary_tract | carcinoma | p.I290fs*4 | Frameshift | Info_not_available | Info_not_available | Info_not_available | 24192927 |
PIK3R1 | 8979 | COSM35737, | breast | carcinoma | p.E451_F456del, p.K575_R577del, p.L449del, p.M563_N564ins13, p.P568_T576del, p.R574_K575insMR, p.T576del, p.Y580_L581del | Deletion - In frame, Insertion - In frame | 5:68295317-68295322, | Info_not_available | Info_not_available | 24229379 |
PIK3R1 | 8979 | COSM5415272, | endometrium | carcinoma | p.?fs*?, p.L570_I571insI, p.T576delT | Deletion - In frame, Insertion - In frame, Unknown | 5:68295304-68295306, | Info_not_available | Info_not_available | 25233892 |
PIK3R1 | 8979 | COSM5945733, | central_nervous_system | glioma | p.E451_Y452del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 25257301 |
PIK3R1 | 8979 | COSM4766159, | central_nervous_system | glioma | p.E462fs*?, p.K567E | Frameshift, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25529192 |
PIK3R1 | 8979 | COSM5574323, | skin | malignant_melanoma | p.R348* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 25705882 |
PIK3R1 | 8979 | COSM5033551, | central_nervous_system | glioma | p.?, p.E468del, p.E469_Y470ins12, p.I405del, p.K567E, p.L449del, p.R557_I559del, p.S412Y, p.S429Y | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25740784 |
PIK3R1 | 8979 | COSM40466, | central_nervous_system | glioma | p.H450_E451del, p.I571I | Deletion - In frame, Substitution - coding silent | 5:68295292-68295292, | Info_not_available | 0.58101, Info_not_available | 18772396 |
PIK3R1 | 8979 | COSM87228, | autonomic_ganglia, breast, central_nervous_system, cervix, endometrium, kidney, large_intestine, lung, ovary, prostate, salivary_gland, soft_tissue, stomach, thyroid, upper_aerodigestive_tract, urinary_tract | angiosarcoma, carcinoma, glioma, liposarcoma, neuroblastoma, other, solitary_fibrous_tumour | p.?, p.A486fs*6, p.D440_E451del12, p.D440_K448delDNIEAVGKK, p.D440delD, p.D464_R465ins12, p.D569_L581>E, p.D569fs*34, p.D578P, p.D578_M582>E, p.D578fs*23, p.D605fs*58, p.D708fs*8, p.E120_A123delEQFA, p.E403_L404>V, p.E451_Y452delEY, p.E451_Y452insHE, p.E458_K459delEK, p.E458delE, p.E462_R465delEYDR, p.E462_Y463>D, p.E462fs*2, p.E468_E469insDRLYE, p.E468_E469insGEYDRLYE, p.E468_E469insYDRLYE, p.E558_R562delEIDKR, p.E596fs*3, p.E650fs*8, p.F456_K459delFQEK, p.F456_Q457delFQ, p.F646_S652>LL, p.G100fs*15, p.G35fs*4, p.G446_L449>V, p.G588fs*7, p.G665fs*3, p.G678fs*9, p.H385fs*11, p.H450_E451delHE, p.H450_K459del10, p.H706fs*>20, p.I405_L420del16, p.I405delI, p.I442_N453del12, p.I442fs*30, p.I566_P568>T, p.I571_K575delIQLRK, p.I571_L581del11, p.I571_R574delIQLR, p.I571fs*31, p.I82fs*32, p.K447fs*31, p.K448_N453delKLHEYN, p.K448_Y452delKLHEY, p.K459del, p.K561fs*7, p.K567_I571delKPDLI, p.K567_L570delKPDL, p.K567delK, p.K575_L581>M, p.K575_R577delKTR, p.L356fs*17, p.L380delL, p.L380fs*1, p.L396fs*6, p.L449_H450insQ, p.L449_Y452>FH, p.L449delL, p.L449fs*3, p.L573_K575delLRK, p.L594V, p.L710fs*5, p.M326fs*6, p.M563fs*5, p.N282fs*3, p.N378delN, p.N441_T454del14, p.N453_Q455>K, p.N453_Q457delNTQFQ, p.N453_S460>K, p.N453delN, p.P568_L573delPDLIQL, p.P568fs*34, p.Q455_F456insHEYNTQ, p.Q572fs*33, p.R461_E462>Q, p.R465_L466insR, p.R557fs*6, p.R557fs*7, p.R574delR, p.R577_D578insKTR, p.R577_L581>SI, p.R577delR, p.R577fs*19, p.S155fs*23, p.S460_R461insQFQEKS, p.S460fs*20, p.S709_L710delSL, p.T576delT, p.T623fs*40, p.V401_H407delVVELINH, p.V402_L413del12, p.V661fs*3, p.V663fs*1, p.V671fs*15, p.Y334fs*6, p.Y390fs*6, p.Y452_N453insF, p.Y452_N453insY, p.Y452_Q457delYNTQFQ, p.Y463_D464insEKSREY, p.Y463_L466del, p.Y470_T471insDRLYEEY, p.Y580_L581>M | Complex - deletion inframe, Complex - frameshift, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Insertion - In frame, Substitution - Missense, Unknown | 5:68297552-68297552, | Info_not_available | 0.51672, Info_not_available | 28481359 |