General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 164656 |
Name | TMPRSS6 |
Synonymous | transmembrane protease, serine 6;TMPRSS6;transmembrane protease, serine 6 |
Definition | matriptase-2|membrane-bound mosaic serine proteinase matriptase-2|transmembrane protease serine 6|type II transmembrane serine protease 6 |
Position | 22q12.3 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.14. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.1640C>T; p.P547L; 22:37070975-37070975 |
skin | malignant_melanoma | Substitution - Missense |
c.92C>T; p.A31V; 22:37103353-37103353 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1570C>T; p.Q524*; 22:37073544-37073544 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1387C>A; p.L463I; 22:37074691-37074691 |
breast | carcinoma | Substitution - Missense |
c.777C>A; p.L259L; 22:37089664-37089664 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.297C>A; p.F99L; 22:37098482-37098482 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1270G>T; p.V424L; 22:37075234-37075234 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.880C>T; p.R294C; 22:37086403-37086403 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1237C>T; p.R413C; 22:37075267-37075267 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1605C>T; p.T535T; 22:37071010-37071010 |
skin | malignant_melanoma | Substitution - coding silent |
c.1437C>T; p.D479D; 22:37074641-37074641 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.2073G>A; p.A691A; 22:37069140-37069140 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.729C>T; p.S243S; 22:37089712-37089712 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.67G>A; p.G23R; 22:37103378-37103378 |
skin | malignant_melanoma | Substitution - Missense |
c.432G>A; p.G144G; 22:37096090-37096090 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.446C>A; p.T149N; 22:37096076-37096076 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2092C>A; p.P698T; 22:37069121-37069121 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2259C>T; p.G753G; 22:37066844-37066844 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.2096G>A; p.G699D; 22:37069117-37069117 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2425G>C; p.V809L; 22:37066091-37066091 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.735C>T; p.C245C; 22:37089706-37089706 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.97C>T; p.P33S; 22:37103348-37103348 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1813_1814insG; p.A605fs*5; 22:37070538-37070539 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1813_1814insG; p.A605fs*5; 22:37070538-37070539 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1813_1814insG; p.A605fs*5; 22:37070538-37070539 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1813_1814insG; p.A605fs*5; 22:37070538-37070539 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.146G>A; p.G49D; 22:37103299-37103299 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.757A>G; p.K253E; 22:37089684-37089684 |
thyroid | other; neoplasm | Substitution - Missense |
c.757A>G; p.K253E; 22:37089684-37089684 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.757A>G; p.K253E; 22:37089684-37089684 |
thyroid | other; neoplasm | Substitution - Missense |
c.1571A>C; p.Q524P; 22:37073543-37073543 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.757A>G; p.K253E; 22:37089684-37089684 |
thyroid | other; neoplasm | Substitution - Missense |
c.931G>A; p.V311I; 22:37086352-37086352 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.931G>A; p.V311I; 22:37086352-37086352 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.931G>A; p.V311I; 22:37086352-37086352 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.931G>A; p.V311I; 22:37086352-37086352 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1394C>A; p.S465Y; 22:37074684-37074684 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.120T>C; p.C40C; 22:37103325-37103325 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.936G>A; p.W312*; 22:37086347-37086347 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2205G>A; p.E735E; 22:37066898-37066898 |
skin | malignant_melanoma | Substitution - coding silent |
c.96G>T; p.E32D; 22:37103349-37103349 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2231G>T; p.R744L; 22:37066872-37066872 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2335G>C; p.G779R; 22:37066181-37066181 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1708C>A; p.L570I; 22:37070644-37070644 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.686_697del12; p.Q229_V232delQGQV; 22:37089744-37089755 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.1490G>T; p.C497F; 22:37073624-37073624 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.73G>A; p.G25R; 22:37103372-37103372 |
pancreas | carcinoma | Substitution - Missense |
c.334C>T; p.R112C; 22:37098445-37098445 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.73G>A; p.G25R; 22:37103372-37103372 |
pancreas | carcinoma | Substitution - Missense |
c.568C>T; p.P190S; 22:37095954-37095954 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1460G>A; p.R487K; 22:37074618-37074618 |
skin | malignant_melanoma | Substitution - Missense |
c.1692G>A; p.E564E; 22:37070923-37070923 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2207T>C; p.V736A; 22:37066896-37066896 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2207T>C; p.V736A; 22:37066896-37066896 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2207T>C; p.V736A; 22:37066896-37066896 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.347C>A; p.A116D; 22:37098432-37098432 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.47C>T; p.P16L; 22:37103398-37103398 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2207T>C; p.V736A; 22:37066896-37066896 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2207T>C; p.V736A; 22:37066896-37066896 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2207T>C; p.V736A; 22:37066896-37066896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1169G>A; p.R390K; 22:37084349-37084349 |
skin | malignant_melanoma | Substitution - Missense |
c.289C>T; p.R97C; 22:37098490-37098490 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.1981G>C; p.E661Q; 22:37069232-37069232 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.456C>T; p.F152F; 22:37096066-37096066 |
breast | carcinoma | Substitution - coding silent |
c.1280C>A; p.T427K; 22:37075224-37075224 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1439G>T; p.C480F; 22:37074639-37074639 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.673A>G; p.S225G; 22:37089768-37089768 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1940T>G; p.V647G; 22:37069273-37069273 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2428G>C; p.V810L; 22:37066088-37066088 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.1636A>G; p.K546E; 22:37070979-37070979 |
skin | malignant_melanoma | Substitution - Missense |
c.44C>T; p.A15V; 22:37103401-37103401 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.187C>T; p.L63F; 22:37103258-37103258 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.960C>T; p.Y320Y; 22:37086323-37086323 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.960C>T; p.Y320Y; 22:37086323-37086323 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1182T>A; p.D394E; 22:37084336-37084336 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.505G>T; p.E169*; 22:37096017-37096017 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Nonsense |
c.2230C>T; p.R744C; 22:37066873-37066873 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.835G>A; p.G279R; 22:37089606-37089606 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1813delG; p.A605fs*8; 22:37070539-37070539 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1063T>C; p.Y355H; 22:37084777-37084777 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.926C>T; p.A309V; 22:37086357-37086357 |
breast | carcinoma | Substitution - Missense |
c.602G>A; p.G201D; 22:37095920-37095920 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1486C>T; p.Q496*; 22:37073628-37073628 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.1981G>A; p.E661K; 22:37069232-37069232 |
skin | malignant_melanoma | Substitution - Missense |
c.567C>A; p.V189V; 22:37095955-37095955 |
skin | malignant_melanoma | Substitution - coding silent |
c.565G>A; p.V189I; 22:37095957-37095957 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1588C>T; p.P530S; 22:37071027-37071027 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2232C>T; p.R744R; 22:37066871-37066871 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.597C>T; p.P199P; 22:37095925-37095925 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2232C>T; p.R744R; 22:37066871-37066871 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.475C>T; p.P159S; 22:37096047-37096047 |
skin | malignant_melanoma | Substitution - Missense |
c.865G>A; p.V289M; 22:37086418-37086418 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.235A>G; p.K79E; 22:37098544-37098544 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1568A>T; p.E523V; 22:37073546-37073546 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.395G>T; p.G132V; 22:37096684-37096684 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.585C>T; p.Y195Y; 22:37095937-37095937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1482A>G; p.T494T; 22:37073632-37073632 |
pancreas | carcinoma | Substitution - coding silent |
c.1482A>G; p.T494T; 22:37073632-37073632 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.278G>A; p.R93H; 22:37098501-37098501 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.674G>A; p.S225N; 22:37089767-37089767 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1567G>C; p.E523Q; 22:37073547-37073547 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1534G>T; p.G512W; 22:37073580-37073580 |
large_intestine; colon | NS | Substitution - Missense |
c.1284C>T; p.A428A; 22:37075220-37075220 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1387C>T; p.L463F; 22:37074691-37074691 |
skin | malignant_melanoma | Substitution - Missense |
c.2190G>T; p.Q730H; 22:37066913-37066913 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1502G>A; p.S501N; 22:37073612-37073612 |
prostate | carcinoma | Substitution - Missense |
c.1961_1962insC; p.L655fs*12; 22:37069251-37069252 |
lung | carcinoid-endocrine_tumour; typical | Insertion - Frameshift |
c.658+2T>C; p.?; 22:37095549-37095549 |
breast | carcinoma | Unknown |
c.355C>T; p.Q119*; 22:37098424-37098424 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1092C>T; p.T364T; 22:37084748-37084748 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.38_39CC>TT; p.A13V; 22:37103406-37103407 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.200C>T; p.S67L; 22:37103245-37103245 |
skin | malignant_melanoma | Substitution - Missense |
c.1254C>T; p.Y418Y; 22:37075250-37075250 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.930C>T; p.V310V; 22:37086353-37086353 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1254C>T; p.Y418Y; 22:37075250-37075250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.432-1G>A; p.?; 22:37096091-37096091 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.200C>T; p.S67L; 22:37103245-37103245 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1561G>A; p.D521N; 22:37073553-37073553 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1561G>A; p.D521N; 22:37073553-37073553 |
skin | malignant_melanoma | Substitution - Missense |
c.44_45insC; p.Q17fs*11; 22:37103400-37103401 |
breast | carcinoma | Insertion - Frameshift |
c.1286_1287insGA; p.I430fs*38; 22:37075217-37075218 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Insertion - Frameshift |
c.2353C>T; p.L785L; 22:37066163-37066163 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.96G>A; p.E32E; 22:37103349-37103349 |
skin | malignant_melanoma | Substitution - coding silent |
c.2217C>T; p.Y739Y; 22:37066886-37066886 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.96G>A; p.E32E; 22:37103349-37103349 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.84C>A; p.G28G; 22:37103361-37103361 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1478C>G; p.A493G; 22:37073636-37073636 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1965C>G; p.L655L; 22:37069248-37069248 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2217C>T; p.Y739Y; 22:37066886-37066886 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2217C>T; p.Y739Y; 22:37066886-37066886 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2047G>A; p.A683T; 22:37069166-37069166 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.340G>A; p.E114K; 22:37098439-37098439 |
skin | malignant_melanoma | Substitution - Missense |
c.2420A>G; p.Q807R; 22:37066096-37066096 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.229+7T>G; p.?; 22:37103209-37103209 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.95A>G; p.E32G; 22:37103350-37103350 |
thyroid | other; neoplasm | Substitution - Missense |
c.1727G>A; p.R576H; 22:37070625-37070625 |
liver | carcinoma | Substitution - Missense |
c.1727G>A; p.R576H; 22:37070625-37070625 |
liver | carcinoma | Substitution - Missense |
c.2121G>A; p.W707*; 22:37069092-37069092 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2366G>A; p.R789Q; 22:37066150-37066150 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1727G>A; p.R576H; 22:37070625-37070625 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1751C>T; p.S584F; 22:37070601-37070601 |
bone; humerus | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.977C>T; p.S326F; 22:37086306-37086306 |
breast | carcinoma | Substitution - Missense |
c.1795C>T; p.R599*; 22:37070557-37070557 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586G>A; p.E196K; 22:37095936-37095936 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1978C>T; p.H660Y; 22:37069235-37069235 |
skin | malignant_melanoma | Substitution - Missense |
c.586G>A; p.E196K; 22:37095936-37095936 |
skin | malignant_melanoma | Substitution - Missense |
c.1795C>T; p.R599*; 22:37070557-37070557 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586G>A; p.E196K; 22:37095936-37095936 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1062G>A; p.P354P; 22:37084778-37084778 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.1403G>A; p.G468E; 22:37074675-37074675 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.44_45insC; p.P16fs*12; 22:37103400-37103401 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.691C>T; p.Q231*; 22:37089750-37089750 |
skin | malignant_melanoma | Substitution - Nonsense |
c.86A>G; p.E29G; 22:37103359-37103359 |
thyroid | other; neoplasm | Substitution - Missense |
c.360G>T; p.K120N; 22:37098419-37098419 |
skin | malignant_melanoma | Substitution - Missense |
c.1572G>C; p.Q524H; 22:37073542-37073542 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2425G>A; p.V809M; 22:37066091-37066091 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.889C>A; p.P297T; 22:37086394-37086394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1386C>T; p.F462F; 22:37074692-37074692 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2055C>T; p.R685R; 22:37069158-37069158 |
skin | malignant_melanoma | Substitution - coding silent |
c.412A>G; p.S138G; 22:37096667-37096667 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2275C>T; p.Q759*; 22:37066828-37066828 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.979G>A; p.V327M; 22:37086304-37086304 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.979G>A; p.V327M; 22:37086304-37086304 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.98C>T; p.P33L; 22:37103347-37103347 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.98C>T; p.P33L; 22:37103347-37103347 |
thyroid | other; neoplasm | Substitution - Missense |
c.2293C>T; p.P765S; 22:37066223-37066223 |
skin | malignant_melanoma | Substitution - Missense |
c.1564G>A; p.E522K; 22:37073550-37073550 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1934G>A; p.G645E; 22:37069279-37069279 |
skin | malignant_melanoma | Substitution - Missense |
c.945C>T; p.G315G; 22:37086338-37086338 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.90A>G; p.E30E; 22:37103355-37103355 |
thyroid | other; neoplasm | Substitution - coding silent |
c.675C>A; p.S225R; 22:37089766-37089766 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1287_1289GAT>GAGAT; p.G429fs; 22:37075215-37075217 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Complex |
c.1287_1289GAT>GAGAT; p.G429fs; 22:37075215-37075217 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Complex |
c.45C>T; p.A15A; 22:37103400-37103400 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.667C>T; p.R223C; 22:37089774-37089774 |
skin | malignant_melanoma | Substitution - Missense |
c.2326T>C; p.F776L; 22:37066190-37066190 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.437delG; p.G146fs*19; 22:37096085-37096085 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.943G>A; p.G315S; 22:37086340-37086340 |
skin | malignant_melanoma | Substitution - Missense |
c.221A>T; p.Y74F; 22:37103224-37103224 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1554C>T; p.N518N; 22:37073560-37073560 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2191G>A; p.D731N; 22:37066912-37066912 |
skin | malignant_melanoma | Substitution - Missense |
c.97C>G; p.P33A; 22:37103348-37103348 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.100G>T; p.E34*; 22:37103345-37103345 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1467C>T; p.C489C; 22:37074611-37074611 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.154C>T; p.R52C; 22:37103291-37103291 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1467C>T; p.C489C; 22:37074611-37074611 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2125G>T; p.A709S; 22:37069088-37069088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.34G>A; p.V12M; 22:37103411-37103411 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.34G>A; p.V12M; 22:37103411-37103411 |
pancreas | carcinoma | Substitution - Missense |
c.1563C>T; p.D521D; 22:37073551-37073551 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1563C>T; p.D521D; 22:37073551-37073551 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.812G>C; p.R271P; 22:37089629-37089629 |
breast | carcinoma | Substitution - Missense |
c.1440C>G; p.C480W; 22:37074638-37074638 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.142delC; p.R48fs*29; 22:37103303-37103303 |
skin; neck | malignant_melanoma | Deletion - Frameshift |
c.346G>A; p.A116T; 22:37098433-37098433 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1233_1234delCT; p.L412fs*63; 22:37075270-37075271 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1233_1234delCT; p.L412fs*63; 22:37075270-37075271 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.346G>A; p.A116T; 22:37098433-37098433 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082C>T; p.S361L; 22:37084758-37084758 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.705G>A; p.L235L; 22:37089736-37089736 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2409C>T; p.I803I; 22:37066107-37066107 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.970G>A; p.V324M; 22:37086313-37086313 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775C>A; p.A592D; 22:37070577-37070577 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.290G>A; p.R97H; 22:37098489-37098489 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.668G>A; p.R223H; 22:37089773-37089773 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1163T>C; p.L388P; 22:37084355-37084355 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1720T>C; p.S574P; 22:37070632-37070632 |
thyroid | other; neoplasm | Substitution - Missense |
c.668G>A; p.R223H; 22:37089773-37089773 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.640G>T; p.A214S; 22:37095569-37095569 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1417G>T; p.A473S; 22:37074661-37074661 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1869-6_1869-2delCCCCA; p.?; 22:37069346-37069350 |
breast | carcinoma | Unknown |
c.1551C>A; p.L517L; 22:37073563-37073563 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1869-6_1869-2delCCCCA; p.?; 22:37069346-37069350 |
breast | carcinoma | Unknown |
c.1869-6_1869-2delCCCCA; p.?; 22:37069346-37069350 |
breast | carcinoma | Unknown |
c.887A>T; p.E296V; 22:37086396-37086396 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |