| Gene ID | 57448 |
| Symbol | BIRC6 |
| Synonymous | APOLLON|BRUCE |
| Full name | baculoviral IAP repeat containing 6 |
| Gene description | BIR repeat-containing ubiquitin-conjugating enzyme|baculoviral IAP repeat-containing 6|baculoviral IAP repeat-containing protein 6|ubiquitin-conjugating BIR domain enzyme apollon|ubiquitin-conjugating BIR-domain enzyme apollon |
| Cytoband | 2p22.3 |
| Gene type | protein-coding |
| Synonymous | MIM:605638; HGNC:HGNC:13516; Ensembl:ENSG00000115760; HPRD:05731; Vega:OTTHUMG00000150528 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.10098G>T; p.L3366F; 2:32509855-32509855 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11140G>A; p.A3714T; 2:32515561-32515561 |
breast | carcinoma | Substitution - Missense |
c.7974G>A; p.E2658E; 2:32488593-32488593 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.12343G>A; p.D4115N; 2:32543292-32543292 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1337G>C; p.G446A; 2:32401542-32401542 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8669G>T; p.R2890L; 2:32499747-32499747 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8495C>A; p.P2832H; 2:32499573-32499573 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.11946A>G; p.T3982T; 2:32529676-32529676 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9980+10G>T; p.?; 2:32508269-32508269 |
liver | carcinoma | Unknown |
c.4145G>A; p.R1382Q; 2:32442362-32442362 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4145G>A; p.R1382Q; 2:32442362-32442362 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8616T>C; p.T2872T; 2:32499694-32499694 |
skin | malignant_melanoma | Substitution - coding silent |
c.4145G>A; p.R1382Q; 2:32442362-32442362 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.13729C>T; p.R4577C; 2:32597867-32597867 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4869A>G; p.A1623A; 2:32463309-32463309 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6920T>C; p.V2307A; 2:32477435-32477435 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6186C>G; p.L2062L; 2:32469453-32469453 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8140A>C; p.T2714P; 2:32490085-32490085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.10453_10454GG>AT; p.G3485I; 2:32513039-32513040 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.13960C>T; p.R4654*; 2:32599868-32599868 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.14212T>C; p.W4738R; 2:32607596-32607596 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13960C>T; p.R4654*; 2:32599868-32599868 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.9076G>T; p.G3026W; 2:32501757-32501757 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1947G>A; p.M649I; 2:32415238-32415238 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10882G>C; p.D3628H; 2:32515303-32515303 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1181G>A; p.G394E; 2:32401309-32401309 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7937T>C; p.L2646P; 2:32487770-32487770 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.11041G>A; p.D3681N; 2:32515462-32515462 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11041G>A; p.D3681N; 2:32515462-32515462 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5473G>C; p.E1825Q; 2:32467641-32467641 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4581C>A; p.V1527V; 2:32448891-32448891 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.609A>T; p.T203T; 2:32380254-32380254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13816C>A; p.L4606I; 2:32597954-32597954 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.12095-1G>C; p.?; 2:32531354-32531354 |
lung | carcinoma; non_small_cell_carcinoma | Unknown |
c.4085T>G; p.V1362G; 2:32442205-32442205 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3488A>C; p.E1163A; 2:32435574-32435574 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.7339G>A; p.D2447N; 2:32479548-32479548 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.14260-1G>T; p.?; 2:32611447-32611447 |
breast | carcinoma | Unknown |
c.9063A>T; p.E3021D; 2:32501744-32501744 |
skin | malignant_melanoma | Substitution - Missense |
c.5283T>C; p.L1761L; 2:32465091-32465091 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3642A>G; p.G1214G; 2:32439518-32439518 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2689A>T; p.I897F; 2:32415980-32415980 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.4424C>G; p.T1475S; 2:32445608-32445608 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6407A>G; p.E2136G; 2:32470227-32470227 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.12941G>A; p.R4314K; 2:32547980-32547980 |
skin | malignant_melanoma | Substitution - Missense |
c.5323C>T; p.H1775Y; 2:32465131-32465131 |
NS | NS | Substitution - Missense |
c.8383C>T; p.R2795*; 2:32493582-32493582 |
skin | malignant_melanoma | Substitution - Nonsense |
c.12073A>G; p.K4025E; 2:32529803-32529803 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.7522C>T; p.L2508F; 2:32481433-32481433 |
skin | malignant_melanoma | Substitution - Missense |
c.2158T>C; p.L720L; 2:32415449-32415449 |
pancreas | carcinoma | Substitution - coding silent |
c.4346A>G; p.Y1449C; 2:32445530-32445530 |
liver | carcinoma | Substitution - Missense |
c.4525G>A; p.D1509N; 2:32448835-32448835 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.11777G>A; p.R3926H; 2:32525485-32525485 |
large_intestine; rectum | adenoma | Substitution - Missense |
c.7680C>T; p.S2560S; 2:32482566-32482566 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.13688T>C; p.V4563A; 2:32597826-32597826 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.11473T>C; p.F3825L; 2:32518377-32518377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2763A>C; p.E921D; 2:32416054-32416054 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6515T>C; p.V2172A; 2:32471047-32471047 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2609G>A; p.R870Q; 2:32415900-32415900 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9317T>C; p.L3106P; 2:32503054-32503054 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2609G>A; p.R870Q; 2:32415900-32415900 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5595G>T; p.G1865G; 2:32467926-32467926 |
liver | carcinoma | Substitution - coding silent |
c.8220T>C; p.S2740S; 2:32491438-32491438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5595G>T; p.G1865G; 2:32467926-32467926 |
liver | carcinoma | Substitution - coding silent |
c.772_773insGATT; p.S260fs*7; 2:32388876-32388877 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.11776C>T; p.R3926C; 2:32525484-32525484 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1342G>A; p.D448N; 2:32401547-32401547 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3759T>C; p.S1253S; 2:32439635-32439635 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11594C>T; p.T3865I; 2:32518917-32518917 |
breast | carcinoma | Substitution - Missense |
c.6134C>T; p.S2045F; 2:32469401-32469401 |
breast | carcinoma | Substitution - Missense |
c.5152G>A; p.V1718I; 2:32464719-32464719 |
large_intestine | adenoma | Substitution - Missense |
c.2170A>G; p.K724E; 2:32415461-32415461 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.11608C>G; p.L3870V; 2:32518931-32518931 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7886T>G; p.L2629R; 2:32487719-32487719 |
skin | malignant_melanoma | Substitution - Missense |
c.8296C>G; p.L2766V; 2:32491514-32491514 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7295G>A; p.G2432E; 2:32479504-32479504 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.13707G>A; p.A4569A; 2:32597845-32597845 |
pancreas | carcinoma | Substitution - coding silent |
c.7604C>A; p.P2535H; 2:32482490-32482490 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7942T>G; p.S2648A; 2:32487775-32487775 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2223C>A; p.D741E; 2:32415514-32415514 |
skin | malignant_melanoma | Substitution - Missense |
c.11815A>G; p.R3939G; 2:32525523-32525523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.10725T>C; p.H3575H; 2:32515146-32515146 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.826C>T; p.R276C; 2:32388930-32388930 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.12013A>C; p.T4005P; 2:32529743-32529743 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8530C>G; p.L2844V; 2:32499608-32499608 |
liver | carcinoma | Substitution - Missense |
c.8530C>G; p.L2844V; 2:32499608-32499608 |
liver | carcinoma | Substitution - Missense |
c.826C>T; p.R276C; 2:32388930-32388930 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.11315C>T; p.S3772L; 2:32515736-32515736 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8106T>C; p.T2702T; 2:32490051-32490051 |
skin | malignant_melanoma | Substitution - coding silent |
c.11923C>T; p.Q3975*; 2:32529653-32529653 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1224G>T; p.K408N; 2:32401352-32401352 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4301_4303delATA; p.N1435delN; 2:32443553-32443555 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.13502_13503insA; p.L4504fs*3; 2:32595034-32595035 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.4485-1G>T; p.?; 2:32448794-32448794 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.8150G>A; p.R2717Q; 2:32490095-32490095 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.5661G>A; p.W1887*; 2:32467992-32467992 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.11755+3A>T; p.?; 2:32525022-32525022 |
liver | carcinoma | Unknown |
c.594T>C; p.D198D; 2:32380239-32380239 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.10258T>C; p.F3420L; 2:32510546-32510546 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13605A>G; p.L4535L; 2:32595137-32595137 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.11951C>T; p.A3984V; 2:32529681-32529681 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.11755+3A>T; p.?; 2:32525022-32525022 |
liver | carcinoma | Unknown |
c.7108C>T; p.H2370Y; 2:32478674-32478674 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2000T>A; p.I667N; 2:32415291-32415291 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10821A>C; p.E3607D; 2:32515242-32515242 |
liver | carcinoma | Substitution - Missense |
c.2658G>T; p.K886N; 2:32415949-32415949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2658G>T; p.K886N; 2:32415949-32415949 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.12533G>T; p.R4178I; 2:32543482-32543482 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7471C>T; p.L2491L; 2:32481382-32481382 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.13151A>G; p.D4384G; 2:32575162-32575162 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.10821A>C; p.E3607D; 2:32515242-32515242 |
liver | carcinoma | Substitution - Missense |
c.2658G>T; p.K886N; 2:32415949-32415949 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3713G>T; p.G1238V; 2:32439589-32439589 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5371G>T; p.V1791L; 2:32467539-32467539 |
kidney | other; neoplasm | Substitution - Missense |
c.5371G>T; p.V1791L; 2:32467539-32467539 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5026G>A; p.V1676M; 2:32464593-32464593 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.14296A>T; p.I4766L; 2:32611484-32611484 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.811G>A; p.G271R; 2:32388915-32388915 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.811G>A; p.G271R; 2:32388915-32388915 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.811G>A; p.G271R; 2:32388915-32388915 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5210C>T; p.A1737V; 2:32464777-32464777 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10597C>T; p.P3533S; 2:32515018-32515018 |
skin | malignant_melanoma | Substitution - Missense |
c.14328T>C; p.D4776D; 2:32611516-32611516 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2892C>T; p.L964L; 2:32429165-32429165 |
large_intestine; rectum | NS | Substitution - coding silent |
c.380T>C; p.I127T; 2:32377642-32377642 |
breast | carcinoma | Substitution - Missense |
c.3350T>C; p.I1117T; 2:32433745-32433745 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5888C>T; p.A1963V; 2:32468544-32468544 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2059T>A; p.Y687N; 2:32415350-32415350 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.7825C>A; p.P2609T; 2:32487658-32487658 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.11643T>G; p.A3881A; 2:32524907-32524907 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13979A>C; p.Y4660S; 2:32599887-32599887 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.4259G>A; p.C1420Y; 2:32443511-32443511 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.12330G>A; p.K4110K; 2:32543279-32543279 |
skin | malignant_melanoma | Substitution - coding silent |
c.9368G>A; p.R3123K; 2:32503105-32503105 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10430C>A; p.P3477H; 2:32513016-32513016 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6809A>G; p.K2270R; 2:32476301-32476301 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.10430C>A; p.P3477H; 2:32513016-32513016 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4834G>A; p.A1612T; 2:32463274-32463274 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.10430C>A; p.P3477H; 2:32513016-32513016 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.13846C>A; p.P4616T; 2:32599754-32599754 |
breast | carcinoma | Substitution - Missense |
c.13961G>A; p.R4654Q; 2:32599869-32599869 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.14354G>A; p.R4785Q; 2:32611542-32611542 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.10374T>G; p.S3458R; 2:32512960-32512960 |
liver | carcinoma | Substitution - Missense |
c.6222A>G; p.I2074M; 2:32469489-32469489 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.10374T>G; p.S3458R; 2:32512960-32512960 |
liver | carcinoma | Substitution - Missense |
c.14229A>T; p.Q4743H; 2:32607613-32607613 |
liver | carcinoma | Substitution - Missense |
c.5086C>T; p.P1696S; 2:32464653-32464653 |
skin | malignant_melanoma | Substitution - Missense |
c.9821T>C; p.V3274A; 2:32508100-32508100 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.10654G>A; p.V3552I; 2:32515075-32515075 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1004T>C; p.L335P; 2:32395563-32395563 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3258G>A; p.W1086*; 2:32433653-32433653 |
liver | carcinoma | Substitution - Nonsense |
c.10430C>T; p.P3477L; 2:32513016-32513016 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2286A>G; p.Q762Q; 2:32415577-32415577 |
breast | carcinoma | Substitution - coding silent |
c.9523A>T; p.T3175S; 2:32505028-32505028 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.14138G>T; p.R4713L; 2:32607522-32607522 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3144A>C; p.E1048D; 2:32430986-32430986 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3097A>G; p.T1033A; 2:32430939-32430939 |
breast | carcinoma | Substitution - Missense |
c.11049_11061del13; p.A3684fs*3; 2:32515470-32515482 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.14528T>C; p.V4843A; 2:32617858-32617858 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1274A>T; p.E425V; 2:32401479-32401479 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.14548G>T; p.E4850*; 2:32617878-32617878 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.14548G>T; p.E4850*; 2:32617878-32617878 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.9589T>C; p.W3197R; 2:32505094-32505094 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1170C>T; p.C390C; 2:32401298-32401298 |
liver | carcinoma | Substitution - coding silent |
c.1170C>T; p.C390C; 2:32401298-32401298 |
liver | carcinoma | Substitution - coding silent |
c.14548G>T; p.E4850*; 2:32617878-32617878 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2131C>T; p.P711S; 2:32415422-32415422 |
kidney | other; neoplasm | Substitution - Missense |
c.1149T>C; p.D383D; 2:32401277-32401277 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.13264G>A; p.E4422K; 2:32575275-32575275 |
breast | carcinoma | Substitution - Missense |
c.12780A>G; p.R4260R; 2:32545830-32545830 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9915T>C; p.G3305G; 2:32508194-32508194 |
pancreas | carcinoma | Substitution - coding silent |
c.1089A>G; p.T363T; 2:32401217-32401217 |
liver | carcinoma | Substitution - coding silent |
c.4038A>C; p.E1346D; 2:32442158-32442158 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.10436_10437insT; p.S3480fs*25; 2:32513022-32513023 |
endometrium | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.11900T>C; p.L3967P; 2:32525608-32525608 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2574G>A; p.S858S; 2:32415865-32415865 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3324C>T; p.F1108F; 2:32433719-32433719 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13669T>C; p.Y4557H; 2:32597807-32597807 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.12791C>T; p.S4264F; 2:32545841-32545841 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1902C>G; p.S634R; 2:32415193-32415193 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2618A>C; p.D873A; 2:32415909-32415909 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.10294A>C; p.I3432L; 2:32510582-32510582 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13002C>T; p.V4334V; 2:32549339-32549339 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1721C>A; p.T574K; 2:32415012-32415012 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2710G>C; p.V904L; 2:32416001-32416001 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2308_2310delAAT; p.N770delN; 2:32415599-32415601 |
breast | carcinoma | Deletion - In frame |
c.9688G>A; p.A3230T; 2:32505193-32505193 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11821A>T; p.R3941W; 2:32525529-32525529 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4802C>T; p.T1601I; 2:32463242-32463242 |
breast | carcinoma | Substitution - Missense |
c.2722C>G; p.Q908E; 2:32416013-32416013 |
NS | NS | Substitution - Missense |
c.9203G>T; p.R3068I; 2:32501884-32501884 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.445G>A; p.A149T; 2:32377707-32377707 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5225C>T; p.A1742V; 2:32464792-32464792 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8590A>T; p.T2864S; 2:32499668-32499668 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.13180G>T; p.A4394S; 2:32575191-32575191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10721A>G; p.H3574R; 2:32515142-32515142 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.12556C>T; p.R4186*; 2:32543505-32543505 |
skin | malignant_melanoma | Substitution - Nonsense |
c.11060T>G; p.L3687R; 2:32515481-32515481 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.11060T>G; p.L3687R; 2:32515481-32515481 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.9967G>A; p.V3323I; 2:32508246-32508246 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7831G>T; p.G2611*; 2:32487664-32487664 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.11060T>G; p.L3687R; 2:32515481-32515481 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.8023G>A; p.G2675R; 2:32488642-32488642 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1413A>G; p.G471G; 2:32401618-32401618 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3816A>C; p.K1272N; 2:32441334-32441334 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2160G>A; p.L720L; 2:32415451-32415451 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.10276_10277delCT; p.S3427fs*2; 2:32510564-32510565 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.13323G>T; p.K4441N; 2:32575334-32575334 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5298T>C; p.A1766A; 2:32465106-32465106 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.12494T>C; p.L4165P; 2:32543443-32543443 |
kidney | other; neoplasm | Substitution - Missense |
c.6028A>T; p.N2010Y; 2:32468684-32468684 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12718G>T; p.E4240*; 2:32545768-32545768 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.10861G>C; p.E3621Q; 2:32515282-32515282 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1121C>G; p.T374R; 2:32401249-32401249 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4792T>C; p.S1598P; 2:32463232-32463232 |
skin | malignant_melanoma | Substitution - Missense |
c.6707T>C; p.V2236A; 2:32473226-32473226 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4610T>C; p.V1537A; 2:32448920-32448920 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.10403G>T; p.R3468I; 2:32512989-32512989 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2965G>A; p.E989K; 2:32429238-32429238 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.11575C>T; p.H3859Y; 2:32518898-32518898 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.10511G>A; p.S3504N; 2:32513097-32513097 |
breast | carcinoma | Substitution - Missense |
c.13198C>T; p.R4400W; 2:32575209-32575209 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3656C>T; p.S1219L; 2:32439532-32439532 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.14163A>T; p.T4721T; 2:32607547-32607547 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4982C>T; p.A1661V; 2:32464549-32464549 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8550C>T; p.V2850V; 2:32499628-32499628 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.11801G>A; p.R3934H; 2:32525509-32525509 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.10494A>G; p.A3498A; 2:32513080-32513080 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.11801G>A; p.R3934H; 2:32525509-32525509 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3455A>G; p.D1152G; 2:32435541-32435541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2103G>A; p.P701P; 2:32415394-32415394 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6884C>T; p.T2295I; 2:32477399-32477399 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4818G>A; p.S1606S; 2:32463258-32463258 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2170A>C; p.K724Q; 2:32415461-32415461 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2103G>A; p.P701P; 2:32415394-32415394 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9022A>G; p.M3008V; 2:32500100-32500100 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4193G>A; p.R1398Q; 2:32442410-32442410 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3259G>A; p.D1087N; 2:32433654-32433654 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1750A>T; p.S584C; 2:32415041-32415041 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.8099C>G; p.S2700*; 2:32490044-32490044 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.11295G>A; p.A3765A; 2:32515716-32515716 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11729A>G; p.D3910G; 2:32524993-32524993 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1445G>A; p.S482N; 2:32406525-32406525 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.11474T>C; p.F3825S; 2:32518378-32518378 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.7880G>A; p.S2627N; 2:32487713-32487713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4973C>G; p.T1658R; 2:32464540-32464540 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.13861T>A; p.Y4621N; 2:32599769-32599769 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6916G>T; p.E2306*; 2:32477431-32477431 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.8267C>G; p.P2756R; 2:32491485-32491485 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1656A>G; p.T552T; 2:32414947-32414947 |
liver | carcinoma | Substitution - coding silent |
c.8580A>G; p.I2860M; 2:32499658-32499658 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4434_4437delCAGA; p.R1479fs*6; 2:32445618-32445621 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.14153C>T; p.P4718L; 2:32607537-32607537 |
skin | malignant_melanoma | Substitution - Missense |
c.14153C>T; p.P4718L; 2:32607537-32607537 |
skin | malignant_melanoma | Substitution - Missense |
c.5618T>G; p.I1873S; 2:32467949-32467949 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5549C>T; p.P1850L; 2:32467717-32467717 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2068C>T; p.Q690*; 2:32415359-32415359 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.3297T>C; p.C1099C; 2:32433692-32433692 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9772G>T; p.V3258F; 2:32508051-32508051 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13771C>T; p.L4591L; 2:32597909-32597909 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.14387C>G; p.A4796G; 2:32611575-32611575 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4604C>T; p.S1535L; 2:32448914-32448914 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.9977C>A; p.T3326K; 2:32508256-32508256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9977C>A; p.T3326K; 2:32508256-32508256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4169G>A; p.R1390H; 2:32442386-32442386 |
NS | NS | Substitution - Missense |
c.9977C>A; p.T3326K; 2:32508256-32508256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5065C>T; p.H1689Y; 2:32464632-32464632 |
skin | malignant_melanoma | Substitution - Missense |
c.9977C>A; p.T3326K; 2:32508256-32508256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9977C>A; p.T3326K; 2:32508256-32508256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9977C>A; p.T3326K; 2:32508256-32508256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.12277G>T; p.E4093*; 2:32531537-32531537 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.13027C>G; p.Q4343E; 2:32549364-32549364 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9977C>A; p.T3326K; 2:32508256-32508256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9977C>A; p.T3326K; 2:32508256-32508256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5568G>A; p.M1856I; 2:32467736-32467736 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.523T>C; p.S175P; 2:32380168-32380168 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.10416G>T; p.M3472I; 2:32513002-32513002 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7265C>T; p.A2422V; 2:32479474-32479474 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2902G>A; p.G968R; 2:32429175-32429175 |
skin | malignant_melanoma | Substitution - Missense |
c.3605C>T; p.T1202M; 2:32436158-32436158 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10477C>A; p.H3493N; 2:32513063-32513063 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.12758C>T; p.A4253V; 2:32545808-32545808 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.6292A>T; p.N2098Y; 2:32469559-32469559 |
thyroid | carcinoma | Substitution - Missense |
c.6347delG; p.V2117fs*19; 2:32469614-32469614 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.10470T>A; p.S3490S; 2:32513056-32513056 |
skin | malignant_melanoma | Substitution - coding silent |
c.7817C>T; p.S2606L; 2:32487650-32487650 |
skin | malignant_melanoma | Substitution - Missense |
c.9208-1G>T; p.?; 2:32502794-32502794 |
lung | carcinoma; adenocarcinoma | Unknown |
c.4051C>A; p.L1351I; 2:32442171-32442171 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8238G>T; p.E2746D; 2:32491456-32491456 |
prostate | adenoma | Substitution - Missense |
c.11086A>G; p.S3696G; 2:32515507-32515507 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6713A>G; p.H2238R; 2:32473232-32473232 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1859C>G; p.S620C; 2:32415150-32415150 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7184G>T; p.G2395V; 2:32478750-32478750 |
breast | carcinoma | Substitution - Missense |
c.5345G>A; p.R1782Q; 2:32465153-32465153 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8159G>A; p.C2720Y; 2:32490104-32490104 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4036G>T; p.E1346*; 2:32442156-32442156 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.11698G>T; p.E3900*; 2:32524962-32524962 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4662C>T; p.F1554F; 2:32453851-32453851 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2005G>T; p.E669*; 2:32415296-32415296 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.11698G>T; p.E3900*; 2:32524962-32524962 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.11698G>T; p.E3900*; 2:32524962-32524962 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.12455C>G; p.P4152R; 2:32543404-32543404 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4679T>C; p.L1560P; 2:32453868-32453868 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1696T>A; p.C566S; 2:32414987-32414987 |
skin | malignant_melanoma | Substitution - Missense |
c.3551G>T; p.G1184V; 2:32436104-32436104 |
prostate | adenoma | Substitution - Missense |
c.2504G>A; p.R835Q; 2:32415795-32415795 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4113G>T; p.K1371N; 2:32442330-32442330 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1487C>A; p.S496*; 2:32414778-32414778 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.9628C>G; p.L3210V; 2:32505133-32505133 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.1235delG; p.D413fs*6; 2:32401363-32401363 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.10900C>G; p.L3634V; 2:32515321-32515321 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6872G>A; p.R2291H; 2:32477387-32477387 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13616C>T; p.T4539M; 2:32597754-32597754 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4541G>T; p.G1514V; 2:32448851-32448851 |
liver | carcinoma | Substitution - Missense |
c.358A>T; p.I120F; 2:32377620-32377620 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4541G>T; p.G1514V; 2:32448851-32448851 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.7681G>A; p.V2561I; 2:32482567-32482567 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8002A>T; p.S2668C; 2:32488621-32488621 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5101A>T; p.T1701S; 2:32464668-32464668 |
liver | carcinoma | Substitution - Missense |
c.2603A>G; p.D868G; 2:32415894-32415894 |
kidney | other; neoplasm | Substitution - Missense |
c.14166G>T; p.Q4722H; 2:32607550-32607550 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.12584G>T; p.G4195V; 2:32543533-32543533 |
breast | carcinoma | Substitution - Missense |
c.73G>A; p.A25T; 2:32357234-32357234 |
pancreas | carcinoma | Substitution - Missense |
c.12539A>T; p.H4180L; 2:32543488-32543488 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.949C>G; p.Q317E; 2:32392148-32392148 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4696C>G; p.L1566V; 2:32453885-32453885 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3997A>C; p.N1333H; 2:32442117-32442117 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.6668T>C; p.L2223P; 2:32473187-32473187 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.7904C>A; p.S2635Y; 2:32487737-32487737 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.7399G>T; p.D2467Y; 2:32479608-32479608 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4351T>C; p.Y1451H; 2:32445535-32445535 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2264A>C; p.E755A; 2:32415555-32415555 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4714T>C; p.S1572P; 2:32453903-32453903 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7438G>C; p.D2480H; 2:32481349-32481349 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.13100C>T; p.S4367F; 2:32549437-32549437 |
breast | carcinoma | Substitution - Missense |
c.352C>T; p.Q118*; 2:32377614-32377614 |
skin | malignant_melanoma | Substitution - Nonsense |
c.9156G>T; p.M3052I; 2:32501837-32501837 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6525G>T; p.V2175V; 2:32471057-32471057 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1964A>C; p.K655T; 2:32415255-32415255 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13507A>T; p.K4503*; 2:32595039-32595039 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.13007G>A; p.S4336N; 2:32549344-32549344 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.14309G>A; p.C4770Y; 2:32611497-32611497 |
breast | carcinoma | Substitution - Missense |
c.600delA; p.N202fs*27; 2:32380245-32380245 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7421T>G; p.L2474R; 2:32481332-32481332 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.14071-2A>T; p.?; 2:32607453-32607453 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.7968_7968+1insGAAC; p.L2657fs*17; 2:32487801-32487802 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.2577C>G; p.L859L; 2:32415868-32415868 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.8669G>A; p.R2890Q; 2:32499747-32499747 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.12379G>A; p.E4127K; 2:32543328-32543328 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8669G>A; p.R2890Q; 2:32499747-32499747 |
skin | malignant_melanoma | Substitution - Missense |
c.10293G>A; p.T3431T; 2:32510581-32510581 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.13509A>C; p.K4503N; 2:32595041-32595041 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.548T>A; p.I183N; 2:32380193-32380193 |
skin | malignant_melanoma | Substitution - Missense |
c.12755C>T; p.S4252F; 2:32545805-32545805 |
breast | carcinoma | Substitution - Missense |
c.2444C>A; p.P815H; 2:32415735-32415735 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.14290G>T; p.V4764F; 2:32611478-32611478 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13993-2A>C; p.?; 2:32603004-32603004 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.9094G>T; p.V3032F; 2:32501775-32501775 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13965C>T; p.F4655F; 2:32599873-32599873 |
breast | carcinoma | Substitution - coding silent |
c.14059A>C; p.S4687R; 2:32603072-32603072 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.12985A>T; p.S4329C; 2:32549322-32549322 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2566A>G; p.I856V; 2:32415857-32415857 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.607A>C; p.T203P; 2:32380252-32380252 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10324C>G; p.Q3442E; 2:32510612-32510612 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.13487G>A; p.R4496Q; 2:32594046-32594046 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10258T>G; p.F3420V; 2:32510546-32510546 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10795G>A; p.A3599T; 2:32515216-32515216 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.8521G>T; p.E2841*; 2:32499599-32499599 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.7318G>A; p.A2440T; 2:32479527-32479527 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4303A>G; p.N1435D; 2:32443555-32443555 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1085A>C; p.H362P; 2:32401213-32401213 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.13331T>A; p.V4444D; 2:32575342-32575342 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3878G>T; p.C1293F; 2:32441396-32441396 |
prostate | carcinoma | Substitution - Missense |
c.2681C>T; p.T894M; 2:32415972-32415972 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3854G>A; p.R1285H; 2:32441372-32441372 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5534A>C; p.H1845P; 2:32467702-32467702 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.12148G>T; p.D4050Y; 2:32531408-32531408 |
pancreas | carcinoma | Substitution - Missense |
c.14179T>C; p.Y4727H; 2:32607563-32607563 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.1015G>A; p.E339K; 2:32395574-32395574 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.12614C>T; p.S4205L; 2:32545664-32545664 |
breast | carcinoma | Substitution - Missense |
c.12614C>T; p.S4205L; 2:32545664-32545664 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7667C>T; p.S2556L; 2:32482553-32482553 |
skin | malignant_melanoma | Substitution - Missense |
c.11338C>T; p.L3780L; 2:32515759-32515759 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.14087A>G; p.Q4696R; 2:32607471-32607471 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9797A>C; p.K3266T; 2:32508076-32508076 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.12019A>T; p.K4007*; 2:32529749-32529749 |
skin | malignant_melanoma | Substitution - Nonsense |
c.6663T>C; p.S2221S; 2:32473182-32473182 |
prostate | adenoma | Substitution - coding silent |
c.8020A>T; p.T2674S; 2:32488639-32488639 |
breast | carcinoma | Substitution - Missense |
c.13507A>G; p.K4503E; 2:32595039-32595039 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.10514A>G; p.Y3505C; 2:32513100-32513100 |
haematopoietic_and_lymphoid_tissue; small_intestine | lymphoid_neoplasm; enteropathy_type_T_cell_lymphoma | Substitution - Missense |
c.8845A>C; p.N2949H; 2:32499923-32499923 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3671T>C; p.V1224A; 2:32439547-32439547 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5143G>T; p.A1715S; 2:32464710-32464710 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.542T>C; p.V181A; 2:32380187-32380187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10090G>T; p.A3364S; 2:32509847-32509847 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2263G>A; p.E755K; 2:32415554-32415554 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6592+2T>G; p.?; 2:32471126-32471126 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.12863A>T; p.Y4288F; 2:32547902-32547902 |
skin | malignant_melanoma | Substitution - Missense |
c.13096C>G; p.Q4366E; 2:32549433-32549433 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.12286C>A; p.Q4096K; 2:32531546-32531546 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4252G>T; p.D1418Y; 2:32443504-32443504 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.8203A>C; p.N2735H; 2:32490148-32490148 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.11054C>A; p.P3685H; 2:32515475-32515475 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7405A>C; p.T2469P; 2:32479614-32479614 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.12455C>A; p.P4152H; 2:32543404-32543404 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.3089G>A; p.R1030H; 2:32430931-32430931 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4931T>G; p.L1644R; 2:32463371-32463371 |
skin | malignant_melanoma | Substitution - Missense |
c.1860T>G; p.S620S; 2:32415151-32415151 |
skin | malignant_melanoma | Substitution - coding silent |
c.10657C>A; p.H3553N; 2:32515078-32515078 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4931T>G; p.L1644R; 2:32463371-32463371 |
skin | malignant_melanoma | Substitution - Missense |
c.12877A>C; p.T4293P; 2:32547916-32547916 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8604C>T; p.H2868H; 2:32499682-32499682 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7588A>T; p.T2530S; 2:32482474-32482474 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5167G>A; p.E1723K; 2:32464734-32464734 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.985T>C; p.F329L; 2:32395544-32395544 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.11157G>T; p.L3719F; 2:32515578-32515578 |
skin | malignant_melanoma | Substitution - Missense |
c.13189G>A; p.E4397K; 2:32575200-32575200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.11866G>A; p.A3956T; 2:32525574-32525574 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4088A>C; p.H1363P; 2:32442208-32442208 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.6871C>T; p.R2291C; 2:32477386-32477386 |
skin | malignant_melanoma | Substitution - Missense |
c.1111A>G; p.T371A; 2:32401239-32401239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.14174G>A; p.R4725Q; 2:32607558-32607558 |
breast | carcinoma | Substitution - Missense |
c.13745C>A; p.A4582D; 2:32597883-32597883 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.14174G>A; p.R4725Q; 2:32607558-32607558 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11058T>C; p.I3686I; 2:32515479-32515479 |
skin | malignant_melanoma | Substitution - coding silent |
c.6871C>T; p.R2291C; 2:32477386-32477386 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1111A>T; p.T371S; 2:32401239-32401239 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1006G>A; p.V336I; 2:32395565-32395565 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.729T>G; p.N243K; 2:32388833-32388833 |
liver | carcinoma | Substitution - Missense |
c.729T>G; p.N243K; 2:32388833-32388833 |
liver | carcinoma | Substitution - Missense |
c.6496delC; p.M2167fs*1; 2:32471028-32471028 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.5783A>T; p.Y1928F; 2:32468439-32468439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6380G>T; p.R2127I; 2:32470200-32470200 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2061C>G; p.Y687*; 2:32415352-32415352 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1973A>T; p.H658L; 2:32415264-32415264 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4499G>A; p.S1500N; 2:32448809-32448809 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.8838G>T; p.V2946V; 2:32499916-32499916 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7167A>G; p.G2389G; 2:32478733-32478733 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5313A>G; p.Q1771Q; 2:32465121-32465121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5313A>G; p.Q1771Q; 2:32465121-32465121 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1398A>G; p.I466M; 2:32401603-32401603 |
breast | carcinoma | Substitution - Missense |
c.4805T>G; p.V1602G; 2:32463245-32463245 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.9023T>C; p.M3008T; 2:32500101-32500101 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5313A>G; p.Q1771Q; 2:32465121-32465121 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13588G>T; p.A4530S; 2:32595120-32595120 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5313A>G; p.Q1771Q; 2:32465121-32465121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9023T>C; p.M3008T; 2:32500101-32500101 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12686A>G; p.D4229G; 2:32545736-32545736 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5313A>G; p.Q1771Q; 2:32465121-32465121 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1923A>G; p.K641K; 2:32415214-32415214 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.12793A>G; p.S4265G; 2:32545843-32545843 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.6356T>C; p.M2119T; 2:32470176-32470176 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5366G>T; p.R1789I; 2:32467534-32467534 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12005T>A; p.I4002K; 2:32529735-32529735 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1609G>T; p.E537*; 2:32414900-32414900 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5366G>T; p.R1789I; 2:32467534-32467534 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13344C>A; p.T4448T; 2:32575355-32575355 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.13133G>A; p.R4378Q; 2:32549470-32549470 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.14015C>T; p.T4672M; 2:32603028-32603028 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1378T>C; p.S460P; 2:32401583-32401583 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.9740G>A; p.G3247E; 2:32508019-32508019 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6382T>C; p.S2128P; 2:32470202-32470202 |
skin | malignant_melanoma | Substitution - Missense |
c.4122T>C; p.N1374N; 2:32442339-32442339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3171G>T; p.R1057S; 2:32431013-32431013 |
kidney | other; neoplasm | Substitution - Missense |
c.10706C>A; p.P3569H; 2:32515127-32515127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13541A>C; p.K4514T; 2:32595073-32595073 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6321A>G; p.E2107E; 2:32469588-32469588 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2353G>T; p.E785*; 2:32415644-32415644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5663A>G; p.E1888G; 2:32467994-32467994 |
skin | malignant_melanoma | Substitution - Missense |
c.509C>G; p.A170G; 2:32380154-32380154 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1558C>T; p.Q520*; 2:32414849-32414849 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.6349G>T; p.V2117F; 2:32470169-32470169 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13349G>A; p.R4450H; 2:32575360-32575360 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9024G>A; p.M3008I; 2:32500102-32500102 |
skin | malignant_melanoma | Substitution - Missense |
c.3752A>T; p.H1251L; 2:32439628-32439628 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7095G>A; p.T2365T; 2:32478661-32478661 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1859C>T; p.S620F; 2:32415150-32415150 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9889A>T; p.K3297*; 2:32508168-32508168 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3680T>C; p.V1227A; 2:32439556-32439556 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7095G>A; p.T2365T; 2:32478661-32478661 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2446G>C; p.E816Q; 2:32415737-32415737 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.13975C>T; p.L4659F; 2:32599883-32599883 |
skin | malignant_melanoma | Substitution - Missense |
c.8661G>T; p.V2887V; 2:32499739-32499739 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.14138G>A; p.R4713Q; 2:32607522-32607522 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.10527A>G; p.V3509V; 2:32513113-32513113 |
breast | carcinoma | Substitution - coding silent |
c.11822_11823GG>AC; p.R3941N; 2:32525530-32525531 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.3755A>C; p.Q1252P; 2:32439631-32439631 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.769G>T; p.D257Y; 2:32388873-32388873 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.13751C>T; p.T4584M; 2:32597889-32597889 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.962C>G; p.S321C; 2:32395521-32395521 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2802T>C; p.T934T; 2:32416093-32416093 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13226T>C; p.V4409A; 2:32575237-32575237 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2825C>T; p.S942F; 2:32416116-32416116 |
prostate | carcinoma | Substitution - Missense |
c.5588G>A; p.R1863H; 2:32467919-32467919 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5029C>T; p.P1677S; 2:32464596-32464596 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.14046T>G; p.N4682K; 2:32603059-32603059 |
skin | malignant_melanoma | Substitution - Missense |
c.14046T>G; p.N4682K; 2:32603059-32603059 |
skin | malignant_melanoma | Substitution - Missense |
c.12108_12109insA; p.L4037fs*3; 2:32531368-32531369 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.2187G>T; p.E729D; 2:32415478-32415478 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8174G>A; p.S2725N; 2:32490119-32490119 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.14378A>G; p.H4793R; 2:32611566-32611566 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3224G>A; p.R1075Q; 2:32431066-32431066 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3224G>A; p.R1075Q; 2:32431066-32431066 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3224G>A; p.R1075Q; 2:32431066-32431066 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11572C>T; p.L3858F; 2:32518895-32518895 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.8392G>A; p.V2798M; 2:32493591-32493591 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.14416G>A; p.E4806K; 2:32617746-32617746 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9404C>G; p.S3135C; 2:32503141-32503141 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.336T>C; p.G112G; 2:32377598-32377598 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2256C>T; p.C752C; 2:32415547-32415547 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7091C>T; p.A2364V; 2:32478657-32478657 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.7066A>G; p.K2356E; 2:32477581-32477581 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6290C>T; p.S2097F; 2:32469557-32469557 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1967G>T; p.S656I; 2:32415258-32415258 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3361C>G; p.Q1121E; 2:32433756-32433756 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9204A>G; p.R3068R; 2:32501885-32501885 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.8619C>T; p.C2873C; 2:32499697-32499697 |
skin | malignant_melanoma | Substitution - coding silent |
c.13501+2T>C; p.?; 2:32594062-32594062 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.6542A>G; p.Y2181C; 2:32471074-32471074 |
skin | malignant_melanoma | Substitution - Missense |
c.8972T>A; p.M2991K; 2:32500050-32500050 |
pancreas | carcinoma | Substitution - Missense |
c.11302C>G; p.L3768V; 2:32515723-32515723 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.9850C>T; p.R3284C; 2:32508129-32508129 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9063A>C; p.E3021D; 2:32501744-32501744 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.9850C>T; p.R3284C; 2:32508129-32508129 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4612C>A; p.L1538I; 2:32448922-32448922 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6674G>T; p.R2225I; 2:32473193-32473193 |
breast | carcinoma | Substitution - Missense |
c.8834C>T; p.S2945F; 2:32499912-32499912 |
skin; ear | malignant_melanoma | Substitution - Missense |
c.7704T>A; p.D2568E; 2:32485650-32485650 |
skin | malignant_melanoma | Substitution - Missense |
c.13070C>T; p.P4357L; 2:32549407-32549407 |
skin | malignant_melanoma | Substitution - Missense |
c.5659T>C; p.W1887R; 2:32467990-32467990 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7789G>A; p.A2597T; 2:32485735-32485735 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8734G>A; p.E2912K; 2:32499812-32499812 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2061C>T; p.Y687Y; 2:32415352-32415352 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4510G>A; p.D1504N; 2:32448820-32448820 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6468T>A; p.H2156Q; 2:32470288-32470288 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.61A>C; p.I21L; 2:32357222-32357222 |
meninges | meningioma; haemangiopericytic | Substitution - Missense |
c.8449C>T; p.H2817Y; 2:32493648-32493648 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.14540G>A; p.S4847N; 2:32617870-32617870 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6765G>A; p.Q2255Q; 2:32476257-32476257 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1162A>G; p.I388V; 2:32401290-32401290 |
skin | malignant_melanoma | Substitution - Missense |
c.11890G>T; p.V3964L; 2:32525598-32525598 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4163T>G; p.I1388S; 2:32442380-32442380 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13140T>G; p.D4380E; 2:32549477-32549477 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9851G>A; p.R3284H; 2:32508130-32508130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9803A>G; p.Q3268R; 2:32508082-32508082 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6617A>G; p.N2206S; 2:32473136-32473136 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.10203G>C; p.L3401L; 2:32509960-32509960 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8705G>T; p.R2902L; 2:32499783-32499783 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10119G>A; p.M3373I; 2:32509876-32509876 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2624A>G; p.E875G; 2:32415915-32415915 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.12544C>T; p.Q4182*; 2:32543493-32543493 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.2360A>C; p.N787T; 2:32415651-32415651 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.11019T>C; p.C3673C; 2:32515440-32515440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.8130G>C; p.W2710C; 2:32490075-32490075 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1935C>T; p.I645I; 2:32415226-32415226 |
skin | malignant_melanoma | Substitution - coding silent |
c.4996G>A; p.A1666T; 2:32464563-32464563 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.13211C>T; p.S4404F; 2:32575222-32575222 |
skin | malignant_melanoma | Substitution - Missense |
c.7749G>A; p.L2583L; 2:32485695-32485695 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4394G>A; p.G1465E; 2:32445578-32445578 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.414G>A; p.K138K; 2:32377676-32377676 |
ovary | other; neoplasm | Substitution - coding silent |
c.12493C>A; p.L4165I; 2:32543442-32543442 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5753T>C; p.V1918A; 2:32468084-32468084 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6899G>A; p.R2300H; 2:32477414-32477414 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.11294C>T; p.A3765V; 2:32515715-32515715 |
prostate | carcinoma | Substitution - Missense |
c.30C>T; p.P10P; 2:32357191-32357191 |
pancreas | carcinoma | Substitution - coding silent |
c.5647T>C; p.Y1883H; 2:32467978-32467978 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2357C>A; p.S786*; 2:32415648-32415648 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.9097G>A; p.G3033R; 2:32501778-32501778 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.7094C>T; p.T2365M; 2:32478660-32478660 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.13827G>C; p.M4609I; 2:32597965-32597965 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4070G>A; p.C1357Y; 2:32442190-32442190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7627C>T; p.P2543S; 2:32482513-32482513 |
skin | malignant_melanoma | Substitution - Missense |
c.2182G>T; p.E728*; 2:32415473-32415473 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2182G>T; p.E728*; 2:32415473-32415473 |
large_intestine | adenoma | Substitution - Nonsense |
c.3151C>G; p.Q1051E; 2:32430993-32430993 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4645G>A; p.A1549T; 2:32453834-32453834 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2971T>C; p.S991P; 2:32429244-32429244 |
breast | carcinoma | Substitution - Missense |
c.2557C>G; p.Q853E; 2:32415848-32415848 |
oesophagus | carcinoma | Substitution - Missense |
c.3580C>A; p.L1194I; 2:32436133-32436133 |
pancreas | carcinoma | Substitution - Missense |
c.9802C>T; p.Q3268*; 2:32508081-32508081 |
skin | malignant_melanoma | Substitution - Nonsense |
c.5203delC; p.P1736fs*17; 2:32464770-32464770 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.8582A>G; p.E2861G; 2:32499660-32499660 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.9802C>T; p.Q3268*; 2:32508081-32508081 |
skin | malignant_melanoma | Substitution - Nonsense |
c.5857G>A; p.A1953T; 2:32468513-32468513 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5311C>G; p.Q1771E; 2:32465119-32465119 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2518G>A; p.E840K; 2:32415809-32415809 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.9798A>C; p.K3266N; 2:32508077-32508077 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.599_600insA; p.N202fs*5; 2:32380244-32380245 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4835C>A; p.A1612E; 2:32463275-32463275 |
liver | carcinoma | Substitution - Missense |
c.4835C>A; p.A1612E; 2:32463275-32463275 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.2199A>G; p.I733M; 2:32415490-32415490 |
liver | carcinoma | Substitution - Missense |
c.4835C>A; p.A1612E; 2:32463275-32463275 |
liver | carcinoma | Substitution - Missense |
c.13931A>T; p.N4644I; 2:32599839-32599839 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.13107C>G; p.L4369L; 2:32549444-32549444 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3309T>C; p.H1103H; 2:32433704-32433704 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.13509A>G; p.K4503K; 2:32595041-32595041 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1130C>T; p.A377V; 2:32401258-32401258 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.13509A>G; p.K4503K; 2:32595041-32595041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13509A>G; p.K4503K; 2:32595041-32595041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2060A>G; p.Y687C; 2:32415351-32415351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13509A>G; p.K4503K; 2:32595041-32595041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1216C>T; p.R406*; 2:32401344-32401344 |
oesophagus | carcinoma | Substitution - Nonsense |
c.13509A>G; p.K4503K; 2:32595041-32595041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5736G>A; p.Q1912Q; 2:32468067-32468067 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1925C>T; p.A642V; 2:32415216-32415216 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11162A>G; p.H3721R; 2:32515583-32515583 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6703C>A; p.L2235I; 2:32473222-32473222 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7125G>A; p.V2375V; 2:32478691-32478691 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1110C>A; p.V370V; 2:32401238-32401238 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13851G>T; p.A4617A; 2:32599759-32599759 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12233G>A; p.G4078D; 2:32531493-32531493 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1301T>C; p.V434A; 2:32401506-32401506 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7264G>T; p.A2422S; 2:32479473-32479473 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11509A>G; p.I3837V; 2:32518832-32518832 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.9710C>T; p.S3237F; 2:32507989-32507989 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10796C>T; p.A3599V; 2:32515217-32515217 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11153T>C; p.L3718S; 2:32515574-32515574 |
skin | malignant_melanoma | Substitution - Missense |
c.1542A>G; p.Q514Q; 2:32414833-32414833 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.12978T>C; p.V4326V; 2:32549315-32549315 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.11590A>G; p.T3864A; 2:32518913-32518913 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.14024G>T; p.G4675V; 2:32603037-32603037 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.905G>C; p.R302T; 2:32392104-32392104 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5863T>C; p.Y1955H; 2:32468519-32468519 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8574C>T; p.A2858A; 2:32499652-32499652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12068C>A; p.S4023Y; 2:32529798-32529798 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13589C>T; p.A4530V; 2:32595121-32595121 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4893A>C; p.L1631L; 2:32463333-32463333 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.8574C>T; p.A2858A; 2:32499652-32499652 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12759T>C; p.A4253A; 2:32545809-32545809 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9143C>T; p.S3048F; 2:32501824-32501824 |
skin | malignant_melanoma | Substitution - Missense |
c.14195G>A; p.R4732Q; 2:32607579-32607579 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7270G>A; p.V2424I; 2:32479479-32479479 |
kidney | other; neoplasm | Substitution - Missense |
c.13752G>A; p.T4584T; 2:32597890-32597890 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13752G>A; p.T4584T; 2:32597890-32597890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8815G>A; p.E2939K; 2:32499893-32499893 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2967A>G; p.E989E; 2:32429240-32429240 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12810+1G>T; p.?; 2:32545861-32545861 |
lung | carcinoma; adenocarcinoma | Unknown |
c.12045_12046insC; p.S4017fs*9; 2:32529775-32529776 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.8482A>T; p.T2828S; 2:32499560-32499560 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4047G>C; p.Q1349H; 2:32442167-32442167 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3318C>T; p.F1106F; 2:32433713-32433713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9339T>C; p.T3113T; 2:32503076-32503076 |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma | Substitution - coding silent |
c.7193C>A; p.S2398Y; 2:32478759-32478759 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.13199G>C; p.R4400P; 2:32575210-32575210 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6955C>T; p.L2319F; 2:32477470-32477470 |
liver | carcinoma | Substitution - Missense |
c.1254G>A; p.M418I; 2:32401382-32401382 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4606G>T; p.D1536Y; 2:32448916-32448916 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6955C>T; p.L2319F; 2:32477470-32477470 |
liver | carcinoma | Substitution - Missense |
c.8721A>G; p.K2907K; 2:32499799-32499799 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.10976T>A; p.I3659N; 2:32515397-32515397 |
skin | malignant_melanoma | Substitution - Missense |
c.13348C>T; p.R4450C; 2:32575359-32575359 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5156T>C; p.V1719A; 2:32464723-32464723 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2909G>T; p.C970F; 2:32429182-32429182 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.14171C>T; p.S4724F; 2:32607555-32607555 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4679T>G; p.L1560R; 2:32453868-32453868 |
liver | carcinoma | Substitution - Missense |
c.8928G>A; p.S2976S; 2:32500006-32500006 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5061C>T; p.F1687F; 2:32464628-32464628 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8928G>A; p.S2976S; 2:32500006-32500006 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7717G>A; p.V2573I; 2:32485663-32485663 |
skin | malignant_melanoma | Substitution - Missense |
c.2471A>G; p.Y824C; 2:32415762-32415762 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.11006T>C; p.V3669A; 2:32515427-32515427 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.10579A>T; p.N3527Y; 2:32515000-32515000 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.7731G>A; p.Q2577Q; 2:32485677-32485677 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.10413G>A; p.R3471R; 2:32512999-32512999 |
skin | malignant_melanoma | Substitution - coding silent |
c.5953A>T; p.N1985Y; 2:32468609-32468609 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.12479C>T; p.A4160V; 2:32543428-32543428 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7612_7613insGAGGTCT; p.G2541fs*22; 2:32482498-32482499 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.10015A>T; p.T3339S; 2:32509772-32509772 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8956G>A; p.A2986T; 2:32500034-32500034 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4069T>A; p.C1357S; 2:32442189-32442189 |
oesophagus | carcinoma | Substitution - Missense |
c.5146G>A; p.V1716I; 2:32464713-32464713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.11786C>T; p.S3929L; 2:32525494-32525494 |
skin | malignant_melanoma | Substitution - Missense |
c.2909G>A; p.C970Y; 2:32429182-32429182 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.10750delA; p.K3585fs*8; 2:32515171-32515171 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3964T>A; p.L1322I; 2:32442084-32442084 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1251_1252insA; p.M418fs*8; 2:32401379-32401380 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2410C>T; p.P804S; 2:32415701-32415701 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10810G>A; p.A3604T; 2:32515231-32515231 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9881C>A; p.S3294*; 2:32508160-32508160 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.13260T>C; p.G4420G; 2:32575271-32575271 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4004_4005delTT; p.C1336fs*5; 2:32442124-32442125 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.14194C>T; p.R4732*; 2:32607578-32607578 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.12146G>T; p.G4049V; 2:32531406-32531406 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.14194C>T; p.R4732*; 2:32607578-32607578 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.8403T>C; p.S2801S; 2:32493602-32493602 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.12926C>T; p.A4309V; 2:32547965-32547965 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3066G>T; p.L1022F; 2:32430908-32430908 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.11778T>C; p.R3926R; 2:32525486-32525486 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1306C>T; p.Q436*; 2:32401511-32401511 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.10918G>A; p.A3640T; 2:32515339-32515339 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5549C>A; p.P1850H; 2:32467717-32467717 |
liver | carcinoma | Substitution - Missense |
c.13148T>C; p.L4383P; 2:32575159-32575159 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12190A>G; p.T4064A; 2:32531450-32531450 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8658C>T; p.S2886S; 2:32499736-32499736 |
skin | malignant_melanoma | Substitution - coding silent |
c.8164delG; p.V2722fs*5; 2:32490109-32490109 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.3653G>T; p.R1218L; 2:32439529-32439529 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13179G>A; p.R4393R; 2:32575190-32575190 |
skin | malignant_melanoma | Substitution - coding silent |
c.12970C>T; p.L4324L; 2:32548009-32548009 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.11479C>T; p.Q3827*; 2:32518383-32518383 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.8658C>T; p.S2886S; 2:32499736-32499736 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1505A>G; p.E502G; 2:32414796-32414796 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1455T>C; p.H485H; 2:32406535-32406535 |
breast | carcinoma | Substitution - coding silent |
c.9719C>T; p.S3240F; 2:32507998-32507998 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7156C>G; p.L2386V; 2:32478722-32478722 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9817G>A; p.E3273K; 2:32508096-32508096 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7561T>C; p.Y2521H; 2:32482447-32482447 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.12035T>C; p.V4012A; 2:32529765-32529765 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4011delA; p.T1339fs*21; 2:32442131-32442131 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.14196A>G; p.R4732R; 2:32607580-32607580 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.7036T>A; p.C2346S; 2:32477551-32477551 |
breast | carcinoma | Substitution - Missense |
c.13402G>C; p.D4468H; 2:32593961-32593961 |
ovary | other; neoplasm | Substitution - Missense |
c.3871C>T; p.R1291W; 2:32441389-32441389 |
skin | malignant_melanoma | Substitution - Missense |
c.2442G>T; p.Q814H; 2:32415733-32415733 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3871C>T; p.R1291W; 2:32441389-32441389 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7255G>A; p.E2419K; 2:32479464-32479464 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5571G>T; p.K1857N; 2:32467739-32467739 |
prostate | carcinoma | Substitution - Missense |
c.8416C>G; p.Q2806E; 2:32493615-32493615 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.5184C>T; p.F1728F; 2:32464751-32464751 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.11600C>T; p.S3867L; 2:32518923-32518923 |
breast | carcinoma | Substitution - Missense |
c.2294C>A; p.A765D; 2:32415585-32415585 |
breast | carcinoma | Substitution - Missense |
c.2091C>G; p.N697K; 2:32415382-32415382 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.5184C>T; p.F1728F; 2:32464751-32464751 |
skin | malignant_melanoma | Substitution - coding silent |
c.4069T>C; p.C1357R; 2:32442189-32442189 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4810G>T; p.E1604*; 2:32463250-32463250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.13084G>C; p.E4362Q; 2:32549421-32549421 |
skin | malignant_melanoma | Substitution - Missense |
c.7901C>T; p.S2634L; 2:32487734-32487734 |
skin | malignant_melanoma | Substitution - Missense |
c.8704C>T; p.R2902C; 2:32499782-32499782 |
skin | malignant_melanoma | Substitution - Missense |
c.8704C>T; p.R2902C; 2:32499782-32499782 |
skin | malignant_melanoma | Substitution - Missense |
c.4214delC; p.R1406fs*3; 2:32442431-32442431 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.13084G>C; p.E4362Q; 2:32549421-32549421 |
skin | malignant_melanoma | Substitution - Missense |
c.5457T>G; p.I1819M; 2:32467625-32467625 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.418C>T; p.L140F; 2:32377680-32377680 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4843G>A; p.V1615I; 2:32463283-32463283 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13850C>T; p.A4617V; 2:32599758-32599758 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8137A>T; p.N2713Y; 2:32490082-32490082 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6074C>A; p.T2025N; 2:32468730-32468730 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13787G>T; p.S4596I; 2:32597925-32597925 |
breast | carcinoma | Substitution - Missense |
c.1603C>T; p.L535F; 2:32414894-32414894 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.12712G>A; p.A4238T; 2:32545762-32545762 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3116C>T; p.S1039L; 2:32430958-32430958 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11002C>G; p.H3668D; 2:32515423-32515423 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9952C>T; p.P3318S; 2:32508231-32508231 |
skin | malignant_melanoma | Substitution - Missense |
c.11888C>A; p.P3963Q; 2:32525596-32525596 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9396T>C; p.F3132F; 2:32503133-32503133 |
oesophagus | carcinoma | Substitution - coding silent |
c.13486C>T; p.R4496W; 2:32594045-32594045 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3347A>C; p.N1116T; 2:32433742-32433742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12778C>T; p.R4260*; 2:32545828-32545828 |
pancreas | carcinoma | Substitution - Nonsense |
c.10918G>T; p.A3640S; 2:32515339-32515339 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.12778C>T; p.R4260*; 2:32545828-32545828 |
pancreas | carcinoma | Substitution - Nonsense |
c.13469C>T; p.A4490V; 2:32594028-32594028 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6579G>T; p.K2193N; 2:32471111-32471111 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4981G>T; p.A1661S; 2:32464548-32464548 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.13469C>T; p.A4490V; 2:32594028-32594028 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.12778C>T; p.R4260*; 2:32545828-32545828 |
pancreas | carcinoma | Substitution - Nonsense |