biomarker_id biomarker_index component_index entity_index assessed_biomarker_entity assessed_biomarker_entity_id assessed_entity_type condition condition_id best_biomarker_role specimen specimen_id loinc_code evidence_source evidence biomarker exposure_agent exposure_agent_id tag biomarker_controlled_vocab change_type_vocab aspect_type_vocab mod_type_vocab legacy_biomarker_id biomarker_controlled_vocab BB1536-1 1 1 1 ABL1 NCBI:25 gene chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011996 PubMed:21562040 ABL1:E255K assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::e255k sequence variation in gene ABL1/NCBI:25 presence of not_specified sequence variation BB1536-1 not_mapped BB1537-1 2 1 1 ABL1 NCBI:25 gene chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011996 PubMed:21562040 ABL1:F359V assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::f359v sequence variation in gene ABL1/NCBI:25 presence of not_specified sequence variation BB1537-1 not_mapped BB1538-1 3 1 1 ABL1 NCBI:25 gene chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011996 PubMed:21562040 ABL1:I242T assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::i242t sequence variation in gene ABL1/NCBI:25 presence of not_specified sequence variation BB1538-1 not_mapped BB1539-1 4 1 1 ABL1 NCBI:25 gene chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011996 PubMed:21562040 ABL1:T315A assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::t315a sequence variation in gene ABL1/NCBI:25 presence of not_specified sequence variation BB1539-1 not_mapped BB1540-1 5 1 1 ABL1 NCBI:25 gene chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011996 PubMed:21562040 ABL1:T315I assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::t315i sequence variation in gene ABL1/NCBI:25 presence of not_specified sequence variation BB1540-1 not_mapped BB1540-2 6 1 1 ABL1 NCBI:25 gene cancer MONDO:0004992 PubMed:25686603 ABL1:T315I assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::t315i sequence variation in gene ABL1/NCBI:25 presence of not_specified sequence variation BB1540-2 not_mapped BB1541-1 7 1 1 ABL1 NCBI:25 gene cancer MONDO:0004992 PubMed:26924578 ABL1:V299L assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::v299l sequence variation in gene ABL1/NCBI:25 presence of not_specified sequence variation BB1541-1 not_mapped BB1541-2 8 1 1 ABL1 NCBI:25 gene chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011996 PubMed:21562040 ABL1:V299L assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::v299l sequence variation in gene ABL1/NCBI:25 presence of not_specified sequence variation BB1541-2 not_mapped BB1542-2 10 1 1 ABL1 NCBI:25 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:27582059 ABL1-BCR fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::abl1-bcr:fusion sequence variation in gene ABL1/NCBI:25 presence of not_specified sequence variation BB1542-2 not_mapped BB1543-1 11 1 1 AKT1 NCBI:207 gene endometrial cancer MONDO:0011962 PubMed:27016228 AKT1:E17K assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::e17k sequence variation in gene AKT1/NCBI:207 presence of not_specified sequence variation BB1543-1 not_mapped BB1543-2 12 1 1 AKT1 NCBI:207 gene cancer MONDO:0004992 PubMed:21464312 AKT1:E17K assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::e17k sequence variation in gene AKT1/NCBI:207 presence of not_specified sequence variation BB1543-2 not_mapped BB1545-1 14 1 1 AKT1 NCBI:207 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:24265152 AKT1:Q79K assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::Q79K sequence variation in gene AKT1/NCBI:207 presence of not_specified sequence variation BB1545-1 not_mapped BB1546-1 16 1 1 AKT3 NCBI:10000 gene breast adenocarcinoma MONDO:0004988 PubMed:22722202 AKT3 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene AKT3/NCBI:10000 presence of not_specified sequence variation BB1546-1 not_mapped BB1547-1 17 1 1 ALK NCBI:238 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:22235099 ALK oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1547-1 not_mapped BB1548-1 18 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:22277784 1151T assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition 1151T [biomarker_term_in_review] not_specified not_specified not_specified BB1548-1 not_mapped BB1548-1 18 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:24670165 1151T assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition 1151T [biomarker_term_in_review] not_specified not_specified not_specified BB1548-1 not_mapped BB1549-1 19 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:27401242 ALK:C1156Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::C1156Y sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1549-1 not_mapped BB1549-2 20 1 1 ALK NCBI:238 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:20979473 ALK:C1156Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::C1156Y sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1549-2 not_mapped BB1551-1 22 1 1 ALK NCBI:238 gene malignant glioma MONDO:0015917 PubMed:22072639 ALK:F1174L assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::F1174L sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1551-1 not_mapped BB1551-2 23 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:24327273 ALK:F1174L assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::F1174L sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1551-2 not_mapped BB1552-1 24 1 1 ALK NCBI:238 gene acute myeloid leukemia MONDO:0018874 PubMed:26032424 ALK:F856S assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::F856S sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1552-1 not_mapped BB1553-1 25 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:26134233 ALK:G1123S assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G1123S sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1553-1 not_mapped BB1554-1 26 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:25228534 ALK:I1171T assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::I1171T sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1554-1 not_mapped BB1555-1 27 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:22277784 ALK:L1196M assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L1196M sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1555-1 not_mapped BB1555-1 27 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:24670165 ALK:L1196M assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L1196M sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1555-1 not_mapped BB1556-1 28 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:26698910 ALK:L1198F assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L1198F sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1556-1 not_mapped BB1557-1 29 1 1 ALK NCBI:238 gene malignant glioma MONDO:0015917 PubMed:22072639 ALK:R1275Q assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::R1275Q sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation BB1557-1 not_mapped AN4668-2 30 1 1 ALK NCBI:238 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:22235099 ALK amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ALK/NCBI:238 increased level not_specified AN4668-2 not_mapped AN4668-3 31 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:22277784 ALK amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ALK/NCBI:238 increased level not_specified AN4668-3 not_mapped AN4680-13 33 1 1 ALK NCBI:238 gene Lymphoma;Glioblastoma MONDO:0005062 PubMed:24491302 ALK fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation AN4680-13 not_mapped AN4680-15 35 1 1 ALK NCBI:238 gene Colorectal adenocarcinoma;Inflammatory myofibroblastic MONDO:0005008 PubMed:26633560 ALK fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation AN4680-15 not_mapped AN4680-15 35 1 1 ALK NCBI:238 gene colorectal adenocarcinoma MONDO:0005008 PubMed:26633560 ALK fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation AN4680-15 not_mapped AN4680-14 34 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:25173427 ALK fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation AN4680-14 not_mapped AN4680-14 34 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:26301689 ALK fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation AN4680-14 not_mapped AN4680-14 34 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:25394791 ALK fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation AN4680-14 not_mapped AN4680-14 34 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:23553849 ALK fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation AN4680-14 not_mapped AN4680-14 34 1 1 ALK NCBI:238 gene lung adenocarcinoma MONDO:0005061 PubMed:23639470 ALK fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation AN4680-14 not_mapped AN4680-12 32 1 1 ALK NCBI:238 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:26951079 ALK fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ALK/NCBI:238 presence of not_specified sequence variation AN4680-12 not_mapped BB1558-1 36 1 1 APC NCBI:324 gene colorectal adenocarcinoma MONDO:0005008 PubMed:22440753 APC oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene APC/NCBI:324 presence of not_specified sequence variation BB1558-1 not_mapped BB1559-1 37 1 1 AR NCBI:367 gene prostate adenocarcinoma MONDO:0005082 PubMed:23779130 AR:F877L assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::F877L sequence variation in gene AR/NCBI:367 presence of not_specified sequence variation BB1559-1 not_mapped BB1560-1 38 1 1 AR NCBI:367 gene prostate adenocarcinoma MONDO:0005082 PubMed:27196756 AR (F877L) + AR (T878A) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition AR (F877L) + AR (T878A) [biomarker_term_in_review] not_specified not_specified not_specified BB1560-1 not_mapped BB1561-1 39 1 1 AR NCBI:367 gene prostate adenocarcinoma MONDO:0005082 PubMed:26537258 AR:L702H assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L702H sequence variation in gene AR/NCBI:367 presence of not_specified sequence variation BB1561-1 not_mapped BB1562-1 40 1 1 AR NCBI:367 gene prostate adenocarcinoma MONDO:0005082 PubMed:2260966 AR:T878A assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::T878A sequence variation in gene AR/NCBI:367 presence of not_specified sequence variation BB1562-1 not_mapped BB1563-1 41 1 1 AR NCBI:367 gene prostate adenocarcinoma MONDO:0005082 PubMed:26537258 AR amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene AR/NCBI:367 increased level not_specified BB1563-1 not_mapped BB1563-1 41 1 1 AR NCBI:367 gene prostate adenocarcinoma MONDO:0005082 PubMed:23589709 AR amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene AR/NCBI:367 increased level not_specified BB1563-1 not_mapped AN4703-2 42 1 1 AR NCBI:367 gene prostate adenocarcinoma MONDO:0005082 PubMed:24882673 AR overexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased expression of gene AR/NCBI:367 increased expression not_specified AN4703-2 not_mapped BB1566-1 46 1 1 AREG NCBI:374 gene colorectal adenocarcinoma MONDO:0005008 PubMed:19738126 AREG amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene AREG/NCBI:374 increased level not_specified BB1566-1 not_mapped BB1567-1 47 1 1 ARID1A NCBI:8289 gene cancer MONDO:0004992 PubMed:27958275 ARID1A oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ARID1A/NCBI:8289 presence of not_specified sequence variation BB1567-1 not_mapped BB1567-2 48 1 1 ARID1A NCBI:8289 gene ovarian cancer MONDO:0008170 PubMed:25686104 ARID1A oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ARID1A/NCBI:8289 presence of not_specified sequence variation BB1567-2 not_mapped BB1567-1 47 1 1 ARID1A NCBI:8289 gene cancer MONDO:0004992 PubMed:26069190 ARID1A oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ARID1A/NCBI:8289 presence of not_specified sequence variation BB1567-1 not_mapped BB1568-1 49 1 1 ARID1A NCBI:8289 gene breast adenocarcinoma MONDO:0004988 PubMed:27172896 ARID1A oncogenic mutation + ANXA1 overexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation:+:anxa1:overexpression sequence variation in gene ARID1A/NCBI:8289 presence of not_specified sequence variation BB1568-1 not_mapped BB1569-1 50 1 1 ARID1A NCBI:8289 gene breast adenocarcinoma MONDO:0004988 PubMed:27172896 ARID1A amplification + ANXA1 overexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition ARID1A amplification + ANXA1 overexpression [biomarker_term_in_review] not_specified not_specified not_specified BB1569-1 not_mapped BB1570-1 51 1 1 ATM NCBI:472 gene childhood bladder carcinoma MONDO:0022578 PubMed:26238431 ATM oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ATM/NCBI:472 presence of not_specified sequence variation BB1570-1 not_mapped BB1570-3 53 1 1 ATM NCBI:472 gene malignant glioma MONDO:0015917 PubMed:23960094 ATM oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ATM/NCBI:472 presence of not_specified sequence variation BB1570-3 not_mapped BB1570-5 55 1 1 ATM NCBI:472 gene lymphoma MONDO:0005062 PubMed:23761041 ATM oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ATM/NCBI:472 presence of not_specified sequence variation BB1570-5 not_mapped BB1571-1 56 1 1 ATM NCBI:472 gene childhood bladder carcinoma MONDO:0022578 PubMed:26238431 ATM deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene ATM/NCBI:472 presence of not_specified sequence variation BB1571-1 not_mapped BB1571-3 58 1 1 ATM NCBI:472 gene lymphoma MONDO:0005062 PubMed:23761041 ATM deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene ATM/NCBI:472 presence of not_specified sequence variation BB1571-3 not_mapped BB1572-1 60 1 1 ATR NCBI:545 gene malignant glioma MONDO:0015917 PubMed:23960094 ATR oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ATR/NCBI:545 presence of not_specified sequence variation BB1572-1 not_mapped BB1572-2 61 1 1 ATR NCBI:545 gene Ovary;Any cancer type MONDO:0008170 PubMed:23548269 ATR oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ATR/NCBI:545 presence of not_specified sequence variation BB1572-2 not_mapped BB1573-1 62 1 1 ATR NCBI:545 gene Ovary;Any cancer type MONDO:0008170 PubMed:23548269 ATR deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene ATR/NCBI:545 presence of not_specified sequence variation BB1573-1 not_mapped AN4743-2 63 1 1 AURKA NCBI:6790 gene Prostate adenocarcinoma;Any cancer type MONDO:0005082 PubMed:22302096 AURKA amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene AURKA/NCBI:6790 increased level not_specified AN4743-2 not_mapped BB1574-1 64 1 1 B2M NCBI:567 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:27433843 B2M oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::B2M sequence variation in gene B2M/NCBI:567 presence of not_specified sequence variation BB1574-1 not_mapped BB1575-1 65 1 1 BAP1 NCBI:8314 gene benign mesothelioma MONDO:0002373 PubMed:26437366 BAP1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BAP1/NCBI:8314 presence of not_specified sequence variation BB1575-1 not_mapped BB1575-2 66 1 1 BAP1 NCBI:8314 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22038994 BAP1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BAP1/NCBI:8314 presence of not_specified sequence variation BB1575-2 not_mapped BB1575-3 67 1 1 BAP1 NCBI:8314 gene Renal;Any cancer type MONDO:0004992 PubMed:22683710 BAP1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BAP1/NCBI:8314 presence of not_specified sequence variation BB1575-3 not_mapped BB1576-1 68 1 1 BAP1 NCBI:8314 gene benign mesothelioma MONDO:0002373 PubMed:26437366 BAP1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene BAP1/NCBI:8314 presence of not_specified sequence variation BB1576-1 not_mapped BB1576-2 69 1 1 BAP1 NCBI:8314 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22038994 BAP1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene BAP1/NCBI:8314 presence of not_specified sequence variation BB1576-2 not_mapped BB1576-3 70 1 1 BAP1 NCBI:8314 gene Renal;Any cancer type MONDO:0004992 PubMed:22683710 BAP1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene BAP1/NCBI:8314 presence of not_specified sequence variation BB1576-3 not_mapped BB1577-1 71 1 1 BCL2 NCBI:596 gene lymphoma MONDO:0005062 PubMed:22649144 BCL2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene BCL2/NCBI:596 increased level not_specified BB1577-1 not_mapped BB1579-1 74 1 1 BCOR NCBI:54880 gene gastric carcinoma MONDO:0004950 PubMed:27397505 BCOR oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BCOR/NCBI:54880 presence of not_specified sequence variation BB1579-1 not_mapped BB1580-1 75 1 1 BRAF NCBI:673 gene cancer MONDO:0004992 PubMed:26732095 BRAF inframe deletion (L485),inframe deletion (P490) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::inframe:deletion:(l485),inframe:deletion:(p490) sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1580-1 not_mapped BB1581-1 76 1 1 BRAF NCBI:673 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:18794803 BRAF:D594G assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D594G sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1581-1 not_mapped BB1582-1 77 1 1 BRAF NCBI:673 gene lung adenocarcinoma MONDO:0005061 PubMed:22649091 BRAF:G466V assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G466V sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1582-1 not_mapped BB1583-1 78 1 1 BRAF NCBI:673 gene lung adenocarcinoma MONDO:0005061 PubMed:22773810 BRAF (G469A) + EGFR oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::(g469a):+:egfr:oncogenic:mutation sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1583-1 not_mapped BB1584-1 79 1 1 BRAF NCBI:673 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23248257 BRAF:K601R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::K601R sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1584-1 not_mapped BB1586-1 81 1 1 BRAF NCBI:673 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23715574 BRAF:L597R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L597R sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1586-1 not_mapped BB1587-1 82 1 1 BRAF NCBI:673 gene colorectal adenocarcinoma MONDO:0005008 PubMed:26287849 BRAF (V600) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition BRAF (V600) [biomarker_term_in_review] not_specified not_specified not_specified BB1587-1 not_mapped BB1587-1 82 1 1 BRAF NCBI:673 gene colorectal adenocarcinoma MONDO:0005008 PubMed:27729313 BRAF (V600) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition BRAF (V600) [biomarker_term_in_review] not_specified not_specified not_specified BB1587-1 not_mapped BB1587-1 82 1 1 BRAF NCBI:673 gene colorectal adenocarcinoma MONDO:0005008 PubMed:28363909 BRAF (V600) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition BRAF (V600) [biomarker_term_in_review] not_specified not_specified not_specified BB1587-1 not_mapped AN4810-2 84 1 1 BRAF NCBI:673 gene colorectal adenocarcinoma MONDO:0005008 PubMed:20619739 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-2 not_mapped AN4810-5 87 1 1 BRAF NCBI:673 gene anaplastic astrocytoma MONDO:0016684 PubMed:22586120 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-5 not_mapped AN4810-6 88 1 1 BRAF NCBI:673 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:23470635 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-6 not_mapped AN4810-7 89 1 1 BRAF NCBI:673 gene Lung adenocarcinoma;Thyroid MONDO:0005061 PubMed:23524406 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-7 not_mapped AN4810-2 84 1 1 BRAF NCBI:673 gene colorectal adenocarcinoma MONDO:0005008 PubMed:26392102 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-2 not_mapped AN4810-7 89 1 1 BRAF NCBI:673 gene lung adenocarcinoma MONDO:0005061 PubMed:27283860 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-7 not_mapped AN4810-7 89 1 1 BRAF NCBI:673 gene Lung adenocarcinoma;Hairy-Cell leukemia;Myeloma MONDO:0005061 PubMed:22743296 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-7 not_mapped AN4810-4 86 1 1 BRAF NCBI:673 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22997239 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-4 not_mapped AN4810-4 86 1 1 BRAF NCBI:673 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22351686 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-4 not_mapped AN4810-4 86 1 1 BRAF NCBI:673 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22389471 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-4 not_mapped AN4810-9 91 1 1 BRAF NCBI:673 gene ovarian cancer MONDO:0008170 PubMed:22608338 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-9 not_mapped AN4810-10 92 1 1 BRAF NCBI:673 gene malignant glioma MONDO:0015917 PubMed:22038996 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-10 not_mapped AN4810-4 86 1 1 BRAF NCBI:673 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23614898 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-4 not_mapped AN4810-8 90 1 1 BRAF NCBI:673 gene thyroid cancer MONDO:0002108 PubMed:22241789 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-8 not_mapped AN4810-9 91 1 1 BRAF NCBI:673 gene ovarian cancer MONDO:0008170 PubMed:19018267 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-9 not_mapped AN4810-7 89 1 1 BRAF NCBI:673 gene lung adenocarcinoma MONDO:0005061 PubMed:22773810 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-7 not_mapped AN4810-3 85 1 1 BRAF NCBI:673 gene Non-small cell lung;Lagerhans cell histiocytosis;Erdheim-Chester histiocytosis MONDO:0005233 PubMed:26287849 BRAF:V600E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation AN4810-3 not_mapped BB1589-1 93 1 1 BRAF NCBI:673 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23237741 BRAF:V600R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V600R sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1589-1 not_mapped BB1590-1 94 1 1 BRAF NCBI:673 gene lung adenocarcinoma MONDO:0005061 PubMed:22649091 BRAF:Y472C assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::Y472C sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1590-1 not_mapped BB1591-1 95 1 1 BRAF NCBI:673 gene ovarian cancer MONDO:0008170 PubMed:26324360 BRAF fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1591-1 not_mapped BB1591-2 96 1 1 BRAF NCBI:673 gene Cutaneous melanoma;Lung adenocarcinoma;Prostate adenocarcinoma MONDO:0005012 PubMed:238900088 BRAF fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1591-2 not_mapped BB1591-3 97 1 1 BRAF NCBI:673 gene Lung adenocarcinoma;Cutaneous melanoma;Prostate adenocarcinoma MONDO:0005061 PubMed:24727320 BRAF fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene BRAF/NCBI:673 presence of not_specified sequence variation BB1591-3 not_mapped BB1592-1 98 1 1 BRCA1 NCBI:672 gene prostate adenocarcinoma MONDO:0005082 PubMed:26510020 BRCA1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA1/NCBI:672 presence of not_specified sequence variation BB1592-1 not_mapped BB1592-3 100 1 1 BRCA1 NCBI:672 gene breast adenocarcinoma MONDO:0004988 PubMed:25847936 BRCA1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA1/NCBI:672 presence of not_specified sequence variation BB1592-3 not_mapped BB1592-2 99 1 1 BRCA1 NCBI:672 gene ovarian cancer MONDO:0008170 PubMed:22406760 BRCA1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA1/NCBI:672 presence of not_specified sequence variation BB1592-2 not_mapped BB1592-3 100 1 1 BRCA1 NCBI:672 gene breast adenocarcinoma MONDO:0004988 PubMed:26801247 BRCA1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA1/NCBI:672 presence of not_specified sequence variation BB1592-3 not_mapped BB1592-2 99 1 1 BRCA1 NCBI:672 gene ovarian cancer MONDO:0008170 PubMed:22307137 BRCA1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA1/NCBI:672 presence of not_specified sequence variation BB1592-2 not_mapped BB1592-4 101 1 1 BRCA1 NCBI:672 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:25366685 BRCA1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA1/NCBI:672 presence of not_specified sequence variation BB1592-4 not_mapped BB1592-5 102 1 1 BRCA1 NCBI:672 gene cancer MONDO:0004992 PubMed:25964244 BRCA1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA1/NCBI:672 presence of not_specified sequence variation BB1592-5 not_mapped BB1592-3 100 1 1 BRCA1 NCBI:672 gene breast adenocarcinoma MONDO:0004988 PubMed:20609467 BRCA1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA1/NCBI:672 presence of not_specified sequence variation BB1592-3 not_mapped BB1593-1 103 1 1 BRCA1 NCBI:672 gene ovarian cancer MONDO:0008170 PubMed:22392482 BRCA1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene BRCA1/NCBI:672 presence of not_specified sequence variation BB1593-1 not_mapped BB1594-1 104 1 1 BRCA2 NCBI:675 gene breast adenocarcinoma MONDO:0004988 PubMed:20609467 BRCA2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA2/NCBI:675 presence of not_specified sequence variation BB1594-1 not_mapped BB1594-3 106 1 1 BRCA2 NCBI:675 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:25719666 BRCA2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA2/NCBI:675 presence of not_specified sequence variation BB1594-3 not_mapped BB1594-1 104 1 1 BRCA2 NCBI:675 gene breast adenocarcinoma MONDO:0004988 PubMed:25847936 BRCA2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA2/NCBI:675 presence of not_specified sequence variation BB1594-1 not_mapped BB1594-2 105 1 1 BRCA2 NCBI:675 gene ovarian cancer MONDO:0008170 PubMed:22406760 BRCA2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA2/NCBI:675 presence of not_specified sequence variation BB1594-2 not_mapped BB1594-1 104 1 1 BRCA2 NCBI:675 gene breast adenocarcinoma MONDO:0004988 PubMed:26801247 BRCA2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA2/NCBI:675 presence of not_specified sequence variation BB1594-1 not_mapped BB1594-2 105 1 1 BRCA2 NCBI:675 gene ovarian cancer MONDO:0008170 PubMed:22307137 BRCA2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA2/NCBI:675 presence of not_specified sequence variation BB1594-2 not_mapped BB1594-4 107 1 1 BRCA2 NCBI:675 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:26997480 BRCA2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA2/NCBI:675 presence of not_specified sequence variation BB1594-4 not_mapped BB1594-5 108 1 1 BRCA2 NCBI:675 gene prostate adenocarcinoma MONDO:0005082 PubMed:26510020 BRCA2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene BRCA2/NCBI:675 presence of not_specified sequence variation BB1594-5 not_mapped BB1595-1 109 1 1 BRCA2 NCBI:675 gene ovarian cancer MONDO:0008170 PubMed:22392482 BRCA2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene BRCA2/NCBI:675 presence of not_specified sequence variation BB1595-1 not_mapped BB1597-1 111 1 1 BTK NCBI:695 gene mantle cell lymphoma MONDO:0018876 PubMed:25082755 BTK (C481) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition BTK (C481) [biomarker_term_in_review] not_specified not_specified not_specified BB1597-1 not_mapped BB1598-1 112 1 1 BTK NCBI:695 gene B-cell chronic lymphocytic leukemia MONDO:0004948 PubMed:24869598 BTK:C481S assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::C481S sequence variation in gene BTK/NCBI:695 presence of not_specified sequence variation BB1598-1 not_mapped AN4853-8 114 1 1 CCND1 NCBI:595 gene medulloblastoma MONDO:0007959 PubMed:24951114 CCND1 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene CCND1/NCBI:595 increased level not_specified AN4853-8 not_mapped AN4853-10 116 1 1 CCND1 NCBI:595 gene cancer MONDO:0004992 PubMed:22471707 CCND1 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene CCND1/NCBI:595 increased level not_specified AN4853-10 not_mapped AN4856-3 118 1 1 CCND2 NCBI:894 gene cancer MONDO:0004992 PubMed:22471707 CCND2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene CCND2/NCBI:894 increased level not_specified AN4856-3 not_mapped AN4859-2 119 1 1 CCND3 NCBI:896 gene cancer MONDO:0004992 PubMed:22471707 CCND3 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene CCND3/NCBI:896 increased level not_specified AN4859-2 not_mapped AN4861-4 120 1 1 CCNE1 NCBI:898 gene cancer MONDO:0004992 PubMed:22471707 CCNE1 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene CCNE1/NCBI:898 increased level not_specified AN4861-4 not_mapped BB1599-1 121 1 1 CD274 NCBI:29126 gene skin basal cell carcinoma MONDO:0005341 PubMed:27942391 CD274 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene CD274/NCBI:29126 increased level not_specified BB1599-1 not_mapped BB1599-2 122 1 1 CD274 NCBI:29126 gene cancer MONDO:0004992 PubMed:25079317 CD274 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene CD274/NCBI:29126 increased level not_specified BB1599-2 not_mapped BB1601-1 125 1 1 CD69 NCBI:969 gene B-cell chronic lymphocytic leukemia MONDO:0004948 PubMed:26701728 CD69 undexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition CD69 undexpression [biomarker_term_in_review] not_specified not_specified not_specified BB1601-1 not_mapped BB1602-1 126 1 1 CDH1 NCBI:999 gene breast adenocarcinoma MONDO:0004988 PubMed:27397505 CDH1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene CDH1/NCBI:999 presence of not_specified sequence variation BB1602-1 not_mapped BB1603-1 127 1 1 CDK12 NCBI:51755 gene ovarian cancer MONDO:0008170 PubMed:24240700 CDK12 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene CDK12/NCBI:51755 presence of not_specified sequence variation BB1603-1 not_mapped BB1604-1 128 1 1 CDK12 NCBI:51755 gene ovarian cancer MONDO:0008170 PubMed:24240700 CDK12 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene CDK12/NCBI:51755 increased level not_specified BB1604-1 not_mapped BB1606-1 132 1 1 CDK4 NCBI:1019 gene liposarcoma MONDO:0005060 PubMed:23569312 CDK4 amplification + RB1 expression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition CDK4 amplification + RB1 expression [biomarker_term_in_review] not_specified not_specified not_specified BB1606-1 not_mapped BB1608-2 135 1 1 CDK6 NCBI:1021 gene cancer MONDO:0004992 PubMed:22471707 CDK6 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene CDK6/NCBI:1021 increased level not_specified BB1608-2 not_mapped BB1609-1 136 1 1 CDKN1A NCBI:1026 gene cancer MONDO:0004992 PubMed:22471707 CDKN1A oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene CDKN1A/NCBI:1026 presence of not_specified sequence variation BB1609-1 not_mapped BB1610-1 137 1 1 CDKN1A NCBI:1026 gene cancer MONDO:0004992 PubMed:22471707 CDKN1A deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene CDKN1A/NCBI:1026 presence of not_specified sequence variation BB1610-1 not_mapped BB1611-1 138 1 1 CDKN1B NCBI:1027 gene cancer MONDO:0004992 PubMed:22471707 CDKN1B oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene CDKN1B/NCBI:1027 presence of not_specified sequence variation BB1611-1 not_mapped BB1612-1 139 1 1 CDKN1B NCBI:1027 gene cancer MONDO:0004992 PubMed:22471707 CDKN1B deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene CDKN1B/NCBI:1027 presence of not_specified sequence variation BB1612-1 not_mapped BB1613-3 142 1 1 CDKN2A NCBI:1029 gene Glioma;Any cancer type MONDO:0015917 PubMed:22471707 CDKN2A oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene CDKN2A/NCBI:1029 presence of not_specified sequence variation BB1613-3 not_mapped AN4879-4 145 1 1 CDKN2A NCBI:1029 gene Glioma;Any cancer type MONDO:0015917 PubMed:22471707 CDKN2A deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene CDKN2A/NCBI:1029 presence of not_specified sequence variation AN4879-4 not_mapped BB1614-1 146 1 1 CDKN2B NCBI:1030 gene Glioma;Any cancer type MONDO:0015917 PubMed:22471707 CDKN2B oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene CDKN2B/NCBI:1030 presence of not_specified sequence variation BB1614-1 not_mapped BB1615-1 147 1 1 CDKN2B NCBI:1030 gene Glioma;Any cancer type MONDO:0015917 PubMed:22471707 CDKN2B deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene CDKN2B/NCBI:1030 presence of not_specified sequence variation BB1615-1 not_mapped BB1616-1 148 1 1 CDKN2C NCBI:1031 gene Glioma;Any cancer type MONDO:0015917 PubMed:22471707 CDKN2C oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene CDKN2C/NCBI:1031 presence of not_specified sequence variation BB1616-1 not_mapped BB1617-1 149 1 1 CDKN2C NCBI:1031 gene Glioma;Any cancer type MONDO:0015917 PubMed:22471707 CDKN2C deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene CDKN2C/NCBI:1031 presence of not_specified sequence variation BB1617-1 not_mapped BB1618-1 150 1 1 CHEK2 NCBI:11200 gene prostate adenocarcinoma MONDO:0005082 PubMed:26510020 CHEK2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene CHEK2/NCBI:11200 presence of not_specified sequence variation BB1618-1 not_mapped BB1620-1 152 1 1 CRBN NCBI:51185 gene myeloid neoplasm MONDO:0005170 PubMed:25108355 CRBN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene CRBN/NCBI:51185 presence of not_specified sequence variation BB1620-1 not_mapped BB1621-1 153 1 1 CRBN NCBI:51185 gene myeloid neoplasm MONDO:0005170 PubMed:23480694 CRBN:Q100* assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::Q100* sequence variation in gene CRBN/NCBI:51185 presence of not_specified sequence variation BB1621-1 not_mapped BB1622-1 154 1 1 CRBN NCBI:51185 gene myeloid neoplasm MONDO:0005170 PubMed:21860026 CRBN undexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition CRBN undexpression [biomarker_term_in_review] not_specified not_specified not_specified BB1622-1 not_mapped BB1623-1 155 1 1 CRLF2 NCBI:64109 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:22904298 CRLF2 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene CRLF2/NCBI:64109 presence of not_specified sequence variation BB1623-1 not_mapped BB1623-1 155 1 1 CRLF2 NCBI:64109 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:22955920 CRLF2 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene CRLF2/NCBI:64109 presence of not_specified sequence variation BB1623-1 not_mapped BB1624-1 156 1 1 CSF3R NCBI:1441 gene atypical chronic myeloid leukemia MONDO:0020312 PubMed:23656643 CSF3R frameshift variant (D771),frameshift variant (S783) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition CSF3R frameshift variant (D771),frameshift variant (S783) [biomarker_term_in_review] not_specified not_specified not_specified BB1624-1 not_mapped BB1625-1 157 1 1 CTNNB1 NCBI:1499 gene colorectal adenocarcinoma MONDO:0005008 PubMed:23539443 CTNNB1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene CTNNB1/NCBI:1499 presence of not_specified sequence variation BB1625-1 not_mapped BB1626-1 158 1 1 CTNNB1 NCBI:1499 gene endometrial cancer MONDO:0011962 PubMed:25624430 CTNNB1:H36Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::H36Y sequence variation in gene CTNNB1/NCBI:1499 presence of not_specified sequence variation BB1626-1 not_mapped BB1627-1 159 1 1 CYP17A1 NCBI:1586 gene prostate adenocarcinoma MONDO:0005082 PubMed:22184395 CYP17A1 expression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of expression of gene CYP17A1/NCBI:1586 presence of expression not_specified BB1627-1 not_mapped BB1627-1 159 1 1 CYP17A1 NCBI:1586 gene prostate adenocarcinoma MONDO:0005082 PubMed:24882673 CYP17A1 expression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of expression of gene CYP17A1/NCBI:1586 presence of expression not_specified BB1627-1 not_mapped BB1628-1 160 1 1 DDR2 NCBI:4921 gene squamous cell lung carcinoma MONDO:0005097 PubMed:22328973 DDR2:I638F assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::I638F sequence variation in gene DDR2/NCBI:4921 presence of not_specified sequence variation BB1628-1 not_mapped BB1629-1 161 1 1 DDR2 NCBI:4921 gene squamous cell lung carcinoma MONDO:0005097 PubMed:22328973 DDR2:S768R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::S768R sequence variation in gene DDR2/NCBI:4921 presence of not_specified sequence variation BB1629-1 not_mapped BB1630-1 162 1 1 DNMT3A NCBI:1788 gene acute myeloid leukemia MONDO:0018874 PubMed:22417203 DNMT3A oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene DNMT3A/NCBI:1788 presence of not_specified sequence variation BB1630-1 not_mapped BB1631-1 163 1 1 DPYD NCBI:1806 gene cancer MONDO:0004992 PubMed:23988873 DPYD biallelic inactivation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition DPYD biallelic inactivation [biomarker_term_in_review] not_specified not_specified not_specified BB1631-1 not_mapped BB1632-1 164 1 1 DPYD NCBI:1806 gene cancer MONDO:0004992 PubMed:23988873 DPYD splice donor variant assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition DPYD splice donor variant [biomarker_term_in_review] not_specified not_specified not_specified BB1632-1 not_mapped BB1633-1 165 1 1 DPYD NCBI:1806 gene cancer MONDO:0004992 PubMed:23988873 DPYD:I560S assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::I560S sequence variation in gene DPYD/NCBI:1806 presence of not_specified sequence variation BB1633-1 not_mapped BB1634-1 166 1 1 EGFR NCBI:1956 gene malignant glioma MONDO:0015917 PubMed:19204207 EGFR inframe deletion (30-336) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::inframe:deletion:(30-336) sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1634-1 not_mapped BB1637-1 170 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:22753918 EGFR exon 19 insertions assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::exon:19:insertions sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1637-1 not_mapped BB1637-1 170 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:22190593 EGFR exon 19 insertions assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::exon:19:insertions sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1637-1 not_mapped BB1637-1 170 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:23102728 EGFR exon 19 insertions assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::exon:19:insertions sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1637-1 not_mapped BB1638-1 171 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:21764376 EGFR exon 20 insertions assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::exon:20:insertions sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1638-1 not_mapped BB1638-1 171 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:26515464 EGFR exon 20 insertions assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::exon:20:insertions sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1638-1 not_mapped BB1639-1 172 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:26773740 769-770 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition 769-770 [biomarker_term_in_review] not_specified not_specified not_specified BB1639-1 not_mapped BB1640-1 173 1 1 EGFR NCBI:1956 gene malignant glioma MONDO:0015917 PubMed:17177598 EGFR:A289V assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::A289V sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1640-1 not_mapped BB1641-1 174 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:25939061 EGFR:C797S assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::C797S sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1641-1 not_mapped BB1642-1 175 1 1 EGFR NCBI:1956 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:19680293 EGFR:D761Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D761Y sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1642-1 not_mapped BB1643-1 176 1 1 EGFR NCBI:1956 gene endometrial cancer MONDO:0011962 PubMed:22885469 EGFR:E690K assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::E690K sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1643-1 not_mapped BB1644-1 177 1 1 EGFR NCBI:1956 gene colorectal adenocarcinoma MONDO:0005008 PubMed:26059438 EGFR:G465R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G465R sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1644-1 not_mapped BB1645-1 178 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:26773740 EGFR:K757R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::K757R sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1645-1 not_mapped BB1648-1 181 1 1 EGFR NCBI:1956 gene lung adenocarcinoma MONDO:0005061 PubMed:27283993 EGFR:L798I assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L798I sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1648-1 not_mapped BB1649-1 182 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:22753918 EGFR:L858R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L858R sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1649-1 not_mapped BB1649-1 182 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:23102728 EGFR:L858R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L858R sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1649-1 not_mapped BB1652-1 186 1 1 EGFR NCBI:1956 gene colorectal adenocarcinoma MONDO:0005008 PubMed:25623215 EGFR:S464L assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::S464L sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1652-1 not_mapped BB1653-1 187 1 1 EGFR NCBI:1956 gene colorectal adenocarcinoma MONDO:0005008 PubMed:22270724 EGFR:S492R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::S492R sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1653-1 not_mapped BB1653-1 187 1 1 EGFR NCBI:1956 gene colorectal adenocarcinoma MONDO:0005008 PubMed:25962717 EGFR:S492R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::S492R sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1653-1 not_mapped BB1654-1 188 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:26773740 EGFR (S720) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition EGFR (S720) [biomarker_term_in_review] not_specified not_specified not_specified BB1654-1 not_mapped BB1655-1 189 1 1 EGFR NCBI:1956 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:19680293 EGFR:T790M assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::T790M sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1655-1 not_mapped BB1655-1 189 1 1 EGFR NCBI:1956 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:22452896 EGFR:T790M assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::T790M sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1655-1 not_mapped BB1655-2 190 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:25074459 EGFR:T790M assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::T790M sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1655-2 not_mapped BB1655-2 190 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:26667485 EGFR:T790M assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::T790M sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1655-2 not_mapped AN4954-9 192 1 1 EGFR NCBI:1956 gene malignant glioma MONDO:0015917 PubMed:16282176 EGFR amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene EGFR/NCBI:1956 increased level not_specified AN4954-9 not_mapped AN4954-10 193 1 1 EGFR NCBI:1956 gene endometrial cancer MONDO:0011962 PubMed:24950987 EGFR amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene EGFR/NCBI:1956 increased level not_specified AN4954-10 not_mapped AN4954-11 194 1 1 EGFR NCBI:1956 gene colorectal adenocarcinoma MONDO:0005008 PubMed:18794099 EGFR amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene EGFR/NCBI:1956 increased level not_specified AN4954-11 not_mapped BB1656-1 196 1 1 EGFR NCBI:1956 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:27102076 EGFR-RAD51 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::egfr-rad51:fusion sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1656-1 not_mapped BB1656-2 197 1 1 EGFR NCBI:1956 gene lung cancer MONDO:0008903 PubMed:27102076 EGFR-RAD51 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::egfr-rad51:fusion sequence variation in gene EGFR/NCBI:1956 presence of not_specified sequence variation BB1656-2 not_mapped BB1657-1 198 1 1 EPHA2 NCBI:1969 gene squamous cell lung carcinoma MONDO:0005097 PubMed:20360610 EPHA2:G391R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G391R sequence variation in gene EPHA2/NCBI:1969 presence of not_specified sequence variation BB1657-1 not_mapped BB1658-1 199 1 1 EPHA2 NCBI:1969 gene cancer MONDO:0004992 PubMed:18047674 EPHA2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene EPHA2/NCBI:1969 increased level not_specified BB1658-1 not_mapped BB1659-1 200 1 1 EPHA3 NCBI:2042 gene cancer MONDO:0004992 PubMed:25125683 EPHA3 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene EPHA3/NCBI:2042 increased level not_specified BB1659-1 not_mapped BB1660-1 201 1 1 ERBB2 NCBI:2064 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:25899785 ERBB2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ERBB2/NCBI:2064 presence of not_specified sequence variation BB1660-1 not_mapped BB1661-1 203 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:23220880 780GSP assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition 780GSP [biomarker_term_in_review] not_specified not_specified not_specified BB1661-1 not_mapped BB1662-1 204 1 1 ERBB2 NCBI:2064 gene lung adenocarcinoma MONDO:0005061 PubMed:26598547 ERBB2 proximal exon 20 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition ERBB2 proximal exon 20 [biomarker_term_in_review] not_specified not_specified not_specified BB1662-1 not_mapped BB1665-1 207 1 1 ERBB2 NCBI:2064 gene Breast adenocarcinoma;Any cancer type MONDO:0004988 PubMed:23220880 ERBB2:D769Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D769Y sequence variation in gene ERBB2/NCBI:2064 presence of not_specified sequence variation BB1665-1 not_mapped BB1665-1 207 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:23220880 ERBB2:D769Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D769Y sequence variation in gene ERBB2/NCBI:2064 presence of not_specified sequence variation BB1665-1 not_mapped BB1666-1 208 1 1 ERBB2 NCBI:2064 gene cancer MONDO:0004992 PubMed:22908275 ERBB2:G309E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G309E sequence variation in gene ERBB2/NCBI:2064 presence of not_specified sequence variation BB1666-1 not_mapped BB1667-1 209 1 1 ERBB2 NCBI:2064 gene lung adenocarcinoma MONDO:0005061 PubMed:16775247 ERBB2:G776L assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::g776l sequence variation in gene ERBB2/NCBI:2064 presence of not_specified sequence variation BB1667-1 not_mapped BB1668-1 210 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:27697991 ERBB2:K753E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::K753E sequence variation in gene ERBB2/NCBI:2064 presence of not_specified sequence variation BB1668-1 not_mapped BB1669-1 211 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:23220880 ERBB2:L755S assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L755S sequence variation in gene ERBB2/NCBI:2064 presence of not_specified sequence variation BB1669-1 not_mapped BB1670-1 212 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:28274957 ERBB2:L869R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L869R sequence variation in gene ERBB2/NCBI:2064 presence of not_specified sequence variation BB1670-1 not_mapped BB1672-1 214 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:28274957 ERBB2:T798I assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::T798I sequence variation in gene ERBB2/NCBI:2064 presence of not_specified sequence variation BB1672-1 not_mapped BB1673-1 215 1 1 ERBB2 NCBI:2064 gene Breast adenocarcinoma;Lung adenocarcinoma MONDO:0004988 PubMed:23950206 ERBB2:V659E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V659E sequence variation in gene ERBB2/NCBI:2064 presence of not_specified sequence variation BB1673-1 not_mapped AN5048-21 217 1 1 ERBB2 NCBI:2064 gene endometrial cancer MONDO:0011962 PubMed:26099744 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-21 not_mapped AN5048-22 218 1 1 ERBB2 NCBI:2064 gene lung adenocarcinoma MONDO:0005061 PubMed:27252416 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-22 not_mapped AN5048-22 218 1 1 ERBB2 NCBI:2064 gene lung adenocarcinoma MONDO:0005061 PubMed:22956644 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-22 not_mapped AN5048-23 219 1 1 ERBB2 NCBI:2064 gene colorectal adenocarcinoma MONDO:0005008 PubMed:22586653 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-23 not_mapped AN5048-26 222 1 1 ERBB2 NCBI:2064 gene childhood bladder carcinoma MONDO:0022578 PubMed:27044931 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-26 not_mapped AN5048-25 221 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:20142587 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-25 not_mapped AN5048-27 223 1 1 ERBB2 NCBI:2064 gene biliary tract neoplasm (disease) MONDO:0005304 PubMed:26022204 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-27 not_mapped AN5048-24 220 1 1 ERBB2 NCBI:2064 gene gastric carcinoma MONDO:0004950 PubMed:25694417 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-24 not_mapped AN5048-24 220 1 1 ERBB2 NCBI:2064 gene gastric carcinoma MONDO:0004950 PubMed:24960402 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-24 not_mapped AN5048-28 224 1 1 ERBB2 NCBI:2064 gene ovarian cancer MONDO:0008170 PubMed:20003286 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-28 not_mapped AN5048-25 221 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:21107682 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-25 not_mapped AN5048-25 221 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:21558407 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-25 not_mapped AN5048-21 217 1 1 ERBB2 NCBI:2064 gene endometrial cancer MONDO:0011962 PubMed:25294905 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-21 not_mapped AN5048-25 221 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:26977878 ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB2/NCBI:2064 increased level not_specified AN5048-25 not_mapped BB1674-1 225 1 1 ERBB2 NCBI:2064 gene breast adenocarcinoma MONDO:0004988 PubMed:26658964 ERBB2 expression + ESR1 overexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition ERBB2 expression + ESR1 overexpression [biomarker_term_in_review] not_specified not_specified not_specified BB1674-1 not_mapped BB1675-1 229 1 1 ERBB3 NCBI:2065 gene childhood bladder carcinoma MONDO:0022578 PubMed:27044931 ERBB3:G284R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G284R sequence variation in gene ERBB3/NCBI:2065 presence of not_specified sequence variation BB1675-1 not_mapped BB1676-1 230 1 1 ERBB3 NCBI:2065 gene cancer MONDO:0004992 PubMed:23680147 ERBB3:P262H assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::P262H sequence variation in gene ERBB3/NCBI:2065 presence of not_specified sequence variation BB1676-1 not_mapped BB1677-1 231 1 1 ERBB3 NCBI:2065 gene colorectal adenocarcinoma MONDO:0005008 PubMed:25520391 ERBB3 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene ERBB3/NCBI:2065 increased level not_specified BB1677-1 not_mapped BB1678-1 232 1 1 ERBB4 NCBI:2066 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:19718025 ERBB4:E317K assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::E317K sequence variation in gene ERBB4/NCBI:2066 presence of not_specified sequence variation BB1678-1 not_mapped BB1679-1 233 1 1 ERBB4 NCBI:2066 gene breast adenocarcinoma MONDO:0004988 PubMed:26530965 ERBB4:H809G assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::H809G sequence variation in gene ERBB4/NCBI:2066 presence of not_specified sequence variation BB1679-1 not_mapped BB1680-1 234 1 1 ERBB4 NCBI:2066 gene lung adenocarcinoma MONDO:0005061 PubMed:24727320 ERBB4 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ERBB4/NCBI:2066 presence of not_specified sequence variation BB1680-1 not_mapped BB1681-1 235 1 1 ERCC1 NCBI:2067 gene lung cancer MONDO:0008903 PubMed:23275151 ERCC1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ERCC1/NCBI:2067 presence of not_specified sequence variation BB1681-1 not_mapped BB1681-1 235 1 1 ERCC1 NCBI:2067 gene lung cancer MONDO:0008903 PubMed:23934192 ERCC1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ERCC1/NCBI:2067 presence of not_specified sequence variation BB1681-1 not_mapped BB1682-1 236 1 1 ERCC1 NCBI:2067 gene lung cancer MONDO:0008903 PubMed:23275151 ERCC1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene ERCC1/NCBI:2067 presence of not_specified sequence variation BB1682-1 not_mapped BB1682-1 236 1 1 ERCC1 NCBI:2067 gene lung cancer MONDO:0008903 PubMed:23934192 ERCC1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene ERCC1/NCBI:2067 presence of not_specified sequence variation BB1682-1 not_mapped BB1683-1 237 1 1 ERCC1 NCBI:2067 gene childhood bladder carcinoma MONDO:0022578 PubMed:20846399 ERCC1 overexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased expression of gene ERCC1/NCBI:2067 increased expression not_specified BB1683-1 not_mapped BB1684-1 238 1 1 ERCC2 NCBI:2068 gene childhood bladder carcinoma MONDO:0022578 PubMed:25096233 ERCC2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ERCC2/NCBI:2068 presence of not_specified sequence variation BB1684-1 not_mapped BB1685-1 239 1 1 ERCC4 NCBI:2072 gene ovarian cancer MONDO:0008170 PubMed:25634215 ERCC4 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ERCC4/NCBI:2072 presence of not_specified sequence variation BB1685-1 not_mapped BB1686-1 240 1 1 ERCC6 NCBI:2074 gene ovarian cancer MONDO:0008170 PubMed:25634215 ERCC6 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ERCC6/NCBI:2074 presence of not_specified sequence variation BB1686-1 not_mapped BB1687-1 241 1 1 EREG NCBI:2069 gene colorectal adenocarcinoma MONDO:0005008 PubMed:19738126 EREG amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene EREG/NCBI:2069 increased level not_specified BB1687-1 not_mapped BB1688-1 242 1 1 ESR1 NCBI:2099 gene breast adenocarcinoma MONDO:0004988 PubMed:27269946 ESR1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ESR1/NCBI:2099 presence of not_specified sequence variation BB1688-1 not_mapped BB1689-1 243 1 1 ESR1 NCBI:2099 gene breast adenocarcinoma MONDO:0004988 PubMed:24185512 ESR1 (E380Q,537,538,L536,P535H) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition ESR1 (E380Q,537,538,L536,P535H) [biomarker_term_in_review] not_specified not_specified not_specified BB1689-1 not_mapped BB1690-1 244 1 1 ESR1 NCBI:2099 gene breast adenocarcinoma MONDO:0004988 PubMed:27986707 ESR1:Y537S assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::Y537S sequence variation in gene ESR1/NCBI:2099 presence of not_specified sequence variation BB1690-1 not_mapped BB1691-1 245 1 1 ESR1 NCBI:2099 gene breast adenocarcinoma MONDO:0004988 PubMed:24055055 ESR1-YAP1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::esr1-yap1:fusion sequence variation in gene ESR1/NCBI:2099 presence of not_specified sequence variation BB1691-1 not_mapped BB1692-1 246 1 1 EZH2 NCBI:2146 gene lymphoma MONDO:0005062 PubMed:23023262 EZH2 (Y641,A677) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition EZH2 (Y641,A677) [biomarker_term_in_review] not_specified not_specified not_specified BB1692-1 not_mapped BB1693-1 247 1 1 FANCA NCBI:2175 gene prostate adenocarcinoma MONDO:0005082 PubMed:26510020 FANCA oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene FANCA/NCBI:2175 presence of not_specified sequence variation BB1693-1 not_mapped BB1694-1 248 1 1 FANCA NCBI:2175 gene prostate adenocarcinoma MONDO:0005082 PubMed:26510020 FANCA deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene FANCA/NCBI:2175 presence of not_specified sequence variation BB1694-1 not_mapped BB1695-1 249 1 1 FANCC NCBI:2176 gene childhood bladder carcinoma MONDO:0022578 PubMed:26238431 FANCC oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene FANCC/NCBI:2176 presence of not_specified sequence variation BB1695-1 not_mapped BB1696-1 250 1 1 FANCC NCBI:2176 gene childhood bladder carcinoma MONDO:0022578 PubMed:26238431 FANCC deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene FANCC/NCBI:2176 presence of not_specified sequence variation BB1696-1 not_mapped BB1697-1 251 1 1 FBXW7 NCBI:55294 gene cancer MONDO:0004992 PubMed:21368834 FBXW7 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene FBXW7/NCBI:55294 presence of not_specified sequence variation BB1697-1 not_mapped BB1697-2 252 1 1 FBXW7 NCBI:55294 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:20861909 FBXW7 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene FBXW7/NCBI:55294 presence of not_specified sequence variation BB1697-2 not_mapped BB1698-1 253 1 1 FBXW7 NCBI:55294 gene cancer MONDO:0004992 PubMed:21368834 FBXW7 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene FBXW7/NCBI:55294 presence of not_specified sequence variation BB1698-1 not_mapped BB1698-2 254 1 1 FBXW7 NCBI:55294 gene colorectal adenocarcinoma MONDO:0005008 PubMed:23558291 FBXW7 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene FBXW7/NCBI:55294 presence of not_specified sequence variation BB1698-2 not_mapped AN5132-2 255 1 1 FGF3 NCBI:2248 gene breast adenocarcinoma MONDO:0004988 PubMed:25193991 FGF3 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene FGF3/NCBI:2248 increased level not_specified AN5132-2 not_mapped AN5132-2 255 1 1 FGF3 NCBI:2248 gene breast adenocarcinoma MONDO:0004988 PubMed:23658459 FGF3 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene FGF3/NCBI:2248 increased level not_specified AN5132-2 not_mapped BB1699-1 256 1 1 FGF4 NCBI:2249 gene breast adenocarcinoma MONDO:0004988 PubMed:25193991 FGF4 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene FGF4/NCBI:2249 increased level not_specified BB1699-1 not_mapped BB1699-1 256 1 1 FGF4 NCBI:2249 gene breast adenocarcinoma MONDO:0004988 PubMed:23658459 FGF4 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene FGF4/NCBI:2249 increased level not_specified BB1699-1 not_mapped AN5133-10 258 1 1 FGFR1 NCBI:2260 gene squamous cell lung carcinoma MONDO:0005097 PubMed:27870574 FGFR1 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene FGFR1/NCBI:2260 increased level not_specified AN5133-10 not_mapped AN5133-11 259 1 1 FGFR1 NCBI:2260 gene breast adenocarcinoma MONDO:0004988 PubMed:25193991 FGFR1 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene FGFR1/NCBI:2260 increased level not_specified AN5133-11 not_mapped BB1700-1 260 1 1 FGFR2 NCBI:2263 gene lung cancer MONDO:0008903 PubMed:26048680 A266 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition A266 [biomarker_term_in_review] not_specified not_specified not_specified BB1700-1 not_mapped BB1701-1 261 1 1 FGFR2 NCBI:2263 gene endometrial cancer MONDO:0011962 PubMed:23908597 FGFR2 (M536I,M538I,I548V,N550,E566G,L618M,K660E) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FGFR2 (M536I,M538I,I548V,N550,E566G,L618M,K660E) [biomarker_term_in_review] not_specified not_specified not_specified BB1701-1 not_mapped BB1702-1 262 1 1 FGFR2 NCBI:2263 gene cholangiocarcinoma MONDO:0019087 PubMed:28034880 FGFR2 (N549H,V564F,K659M,L617V,K641R,R565A) + FGFR2 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::(n549h,v564f,k659m,l617v,k641r,r565a):+:fusion sequence variation in gene FGFR2/NCBI:2263 presence of not_specified sequence variation BB1702-1 not_mapped BB1703-1 263 1 1 FGFR2 NCBI:2263 gene endometrial cancer MONDO:0011962 PubMed:18552176 FGFR2:S252W assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::S252W sequence variation in gene FGFR2/NCBI:2263 presence of not_specified sequence variation BB1703-1 not_mapped BB1705-1 265 1 1 FGFR2 NCBI:2263 gene endometrial cancer MONDO:0011962 PubMed:23908597 FGFR2 (V565I,M536I,M538I,I548V,N550,E566G,L618M,K660E) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FGFR2 (V565I,M536I,M538I,I548V,N550,E566G,L618M,K660E) [biomarker_term_in_review] not_specified not_specified not_specified BB1705-1 not_mapped BB1706-1 266 1 1 FGFR2 NCBI:2263 gene squamous cell lung carcinoma MONDO:0005097 PubMed:23786770 FGFR2:W290C assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::W290C sequence variation in gene FGFR2/NCBI:2263 presence of not_specified sequence variation BB1706-1 not_mapped AN5140-4 267 1 1 FGFR2 NCBI:2263 gene breast adenocarcinoma MONDO:0004988 PubMed:25193991 FGFR2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene FGFR2/NCBI:2263 increased level not_specified AN5140-4 not_mapped BB1707-1 271 1 1 FGFR3 NCBI:2261 gene childhood bladder carcinoma MONDO:0022578 PubMed:27870574 FGFR3 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene FGFR3/NCBI:2261 presence of not_specified sequence variation BB1707-1 not_mapped BB1708-1 272 1 1 FGFR3 NCBI:2261 gene myeloid neoplasm MONDO:0005170 PubMed:19331127 FGFR3 (K650) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FGFR3 (K650) [biomarker_term_in_review] not_specified not_specified not_specified BB1708-1 not_mapped BB1709-1 273 1 1 FGFR3 NCBI:2261 gene myeloid neoplasm MONDO:0005170 PubMed:16091734 FGFR3 (K650,Y373C) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FGFR3 (K650,Y373C) [biomarker_term_in_review] not_specified not_specified not_specified BB1709-1 not_mapped BB1710-1 274 1 1 FGFR3 NCBI:2261 gene lung adenocarcinoma MONDO:0005061 PubMed:27998968 FGFR3:S249C assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::S249C sequence variation in gene FGFR3/NCBI:2261 presence of not_specified sequence variation BB1710-1 not_mapped BB1711-1 275 1 1 FGFR3 NCBI:2261 gene myeloid neoplasm MONDO:0005170 PubMed:22869148 FGFR3:V555M assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V555M sequence variation in gene FGFR3/NCBI:2261 presence of not_specified sequence variation BB1711-1 not_mapped BB1712-1 276 1 1 FGFR3 NCBI:2261 gene myeloid neoplasm MONDO:0005170 PubMed:19331127 FGFR3:Y373C assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::Y373C sequence variation in gene FGFR3/NCBI:2261 presence of not_specified sequence variation BB1712-1 not_mapped AN5151-2 277 1 1 FGFR3 NCBI:2261 gene childhood bladder carcinoma MONDO:0022578 PubMed:26324363 FGFR3 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene FGFR3/NCBI:2261 presence of not_specified sequence variation AN5151-2 not_mapped AN5151-3 278 1 1 FGFR3 NCBI:2261 gene malignant glioma MONDO:0015917 PubMed:26324363 FGFR3 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene FGFR3/NCBI:2261 presence of not_specified sequence variation AN5151-3 not_mapped BB1713-1 279 1 1 FGFR3 NCBI:2261 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:25294908 FGFR3-TACC3 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fgfr3-tacc3:fusion sequence variation in gene FGFR3/NCBI:2261 presence of not_specified sequence variation BB1713-1 not_mapped BB1714-1 280 1 1 FGFR4 NCBI:2264 gene rhabdomyosarcoma (disease) MONDO:0005212 PubMed:19809159 FGFR4 (N535,V550) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FGFR4 (N535,V550) [biomarker_term_in_review] not_specified not_specified not_specified BB1714-1 not_mapped BB1715-1 281 1 1 FLCN NCBI:201163 gene thyroid cancer MONDO:0002108 PubMed:25295501 FLCN deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene FLCN/NCBI:201163 presence of not_specified sequence variation BB1715-1 not_mapped EK2538-2 282 1 1 FLT3 NCBI:2322 gene acute myeloid leukemia MONDO:0018874 PubMed:27520294 FLT3-ITD assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FLT3 ITD [biomarker_term_in_review] not_specified not_specified not_specified BB1716-1 not_mapped EK2538-2 282 1 1 FLT3 NCBI:2322 gene acute myeloid leukemia MONDO:0018874 PubMed:19389879 FLT3-ITD assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FLT3 ITD [biomarker_term_in_review] not_specified not_specified not_specified BB1716-1 not_mapped EK2538-2 282 1 1 FLT3 NCBI:2322 gene acute myeloid leukemia MONDO:0018874 PubMed:23613521 FLT3-ITD assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FLT3 ITD [biomarker_term_in_review] not_specified not_specified not_specified BB1716-1 not_mapped EK2538-2 282 1 1 FLT3 NCBI:2322 gene acute myeloid leukemia MONDO:0018874 PubMed:16857985 FLT3-ITD assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FLT3 ITD [biomarker_term_in_review] not_specified not_specified not_specified BB1716-1 not_mapped JM9645-2 283 1 1 FLT3 NCBI:2322 gene acute myeloid leukemia MONDO:0018874 PubMed:16857985 FLT3 (D835) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FLT3 D835 [biomarker_term_in_review] not_specified not_specified not_specified BB1717-1 not_mapped JM9645-2 283 1 1 FLT3 NCBI:2322 gene acute myeloid leukemia MONDO:0018874 PubMed:20733134 FLT3 (D835) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FLT3 D835 [biomarker_term_in_review] not_specified not_specified not_specified BB1717-1 not_mapped BB1718-1 284 1 1 FLT3 NCBI:2322 gene acute myeloid leukemia MONDO:0018874 PubMed:23430109 FLT3 (D835,Y842) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FLT3 (D835,Y842) [biomarker_term_in_review] not_specified not_specified not_specified BB1718-1 not_mapped BB1719-1 285 1 1 FLT3 NCBI:2322 gene acute myeloid leukemia MONDO:0018874 PubMed:25847190 FLT3 (F691) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FLT3 (F691) [biomarker_term_in_review] not_specified not_specified not_specified BB1719-1 not_mapped BB1720-1 286 1 1 FLT3 NCBI:2322 gene acute myeloid leukemia MONDO:0018874 PubMed:22504184 FLT3 (F691,D835,N676,Y842) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FLT3 (F691,D835,N676,Y842) [biomarker_term_in_review] not_specified not_specified not_specified BB1720-1 not_mapped BB1721-1 287 1 1 FLT3 NCBI:2322 gene acute myeloid leukemia MONDO:0018874 PubMed:24619500 FLT3 (N676) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition FLT3 (N676) [biomarker_term_in_review] not_specified not_specified not_specified BB1721-1 not_mapped BB1722-1 288 1 1 FOXA1 NCBI:3169 gene colorectal adenocarcinoma MONDO:0005008 PubMed:27397505 FOXA1 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene FOXA1/NCBI:3169 increased level not_specified BB1722-1 not_mapped BB1723-1 289 1 1 FRS2 NCBI:10818 gene liposarcoma MONDO:0005060 PubMed:23393200 FRS2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene FRS2/NCBI:10818 increased level not_specified BB1723-1 not_mapped BB1727-1 293 1 1 GATA3 NCBI:2625 gene breast adenocarcinoma MONDO:0004988 PubMed:24758297 GATA3 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene GATA3/NCBI:2625 presence of not_specified sequence variation BB1727-1 not_mapped BB1728-1 294 1 1 GLI2 NCBI:2736 gene medulloblastoma MONDO:0007959 PubMed:24951114 GLI2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene GLI2/NCBI:2736 increased level not_specified BB1728-1 not_mapped BB1729-1 295 1 1 GNA11 NCBI:2767 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22733540 GNA11:Q209L assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::Q209L sequence variation in gene GNA11/NCBI:2767 presence of not_specified sequence variation BB1729-1 not_mapped BB1730-1 296 1 1 GNAQ NCBI:2776 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22733540 GNAQ (Q209) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition GNAQ (Q209) [biomarker_term_in_review] not_specified not_specified not_specified BB1730-1 not_mapped BB1730-1 296 1 1 GNAQ NCBI:2776 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22653968 GNAQ (Q209) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition GNAQ (Q209) [biomarker_term_in_review] not_specified not_specified not_specified BB1730-1 not_mapped BB1731-1 297 1 1 GNAS NCBI:2778 gene cancer MONDO:0004992 PubMed:21835143 GNAS (R201) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition GNAS (R201) [biomarker_term_in_review] not_specified not_specified not_specified BB1731-1 not_mapped BB1732-1 298 1 1 HDAC2 NCBI:3066 gene prostate adenocarcinoma MONDO:0005082 PubMed:26510020 HDAC2 biallelic inactivation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition HDAC2 biallelic inactivation [biomarker_term_in_review] not_specified not_specified not_specified BB1732-1 not_mapped BB1733-1 299 1 1 HGF NCBI:3082 gene breast adenocarcinoma MONDO:0004988 PubMed:22850551 HGF amplification + ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition HGF amplification + ERBB2 amplification [biomarker_term_in_review] not_specified not_specified not_specified BB1733-1 not_mapped BB1734-2 301 1 1 HRAS NCBI:3265 gene acute myeloid leukemia MONDO:0018874 PubMed:22399013 HRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene HRAS/NCBI:3265 presence of not_specified sequence variation BB1734-2 not_mapped BB1734-3 302 1 1 HRAS NCBI:3265 gene uterine cervix neoplasm MONDO:0021230 PubMed:15950068 HRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene HRAS/NCBI:3265 presence of not_specified sequence variation BB1734-3 not_mapped BB1735-2 304 1 1 IDH1 NCBI:3417 gene acute myeloid leukemia MONDO:0018874 PubMed:27520294 IDH1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene IDH1/NCBI:3417 presence of not_specified sequence variation BB1735-2 not_mapped BB1735-2 304 1 1 IDH1 NCBI:3417 gene acute myeloid leukemia MONDO:0018874 PubMed:25599133 IDH1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene IDH1/NCBI:3417 presence of not_specified sequence variation BB1735-2 not_mapped BB1736-1 306 1 1 IDH1 NCBI:3417 gene biliary tract neoplasm (disease) MONDO:0005304 PubMed:27231123 IDH1 (R132) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition IDH1 (R132) [biomarker_term_in_review] not_specified not_specified not_specified BB1736-1 not_mapped BB1736-2 307 1 1 IDH1 NCBI:3417 gene cancer MONDO:0004992 PubMed:28148839 IDH1 (R132) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition IDH1 (R132) [biomarker_term_in_review] not_specified not_specified not_specified BB1736-2 not_mapped BB1737-2 309 1 1 IDH2 NCBI:3418 gene acute myeloid leukemia MONDO:0018874 PubMed:27520294 IDH2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene IDH2/NCBI:3418 presence of not_specified sequence variation BB1737-2 not_mapped BB1738-1 310 1 1 IDH2 NCBI:3418 gene biliary tract neoplasm (disease) MONDO:0005304 PubMed:27231123 IDH2 (R172) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition IDH2 (R172) [biomarker_term_in_review] not_specified not_specified not_specified BB1738-1 not_mapped BB1739-1 311 1 1 IGF1R NCBI:3480 gene lung adenocarcinoma MONDO:0005061 PubMed:24458568 IGF1R amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene IGF1R/NCBI:3480 increased level not_specified BB1739-1 not_mapped BB1740-1 312 1 1 IGF2 NCBI:3481 gene colorectal adenocarcinoma MONDO:0005008 PubMed:25632036 IGF2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene IGF2/NCBI:3481 increased level not_specified BB1740-1 not_mapped BB1741-1 313 1 1 IL7R NCBI:3575 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:22897847 237-255 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition 237-255 [biomarker_term_in_review] not_specified not_specified not_specified BB1741-1 not_mapped BB1741-1 313 1 1 IL7R NCBI:3575 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:22955920 237-255 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition 237-255 [biomarker_term_in_review] not_specified not_specified not_specified BB1741-1 not_mapped BB1742-1 314 1 1 IL7R NCBI:3575 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:22897847 IL7R (S185C) + SH2B3 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::(s185c):+:sh2b3:deletion sequence variation in gene IL7R/NCBI:3575 presence of not_specified sequence variation BB1742-1 not_mapped BB1742-1 314 1 1 IL7R NCBI:3575 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:22955920 IL7R (S185C) + SH2B3 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::(s185c):+:sh2b3:deletion sequence variation in gene IL7R/NCBI:3575 presence of not_specified sequence variation BB1742-1 not_mapped BB1743-1 315 1 1 INPP4B NCBI:8821 gene breast adenocarcinoma MONDO:0004988 PubMed:23551093 INPP4B oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene INPP4B/NCBI:8821 presence of not_specified sequence variation BB1743-1 not_mapped BB1744-1 316 1 1 INPP4B NCBI:8821 gene breast adenocarcinoma MONDO:0004988 PubMed:23551093 INPP4B deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene INPP4B/NCBI:8821 presence of not_specified sequence variation BB1744-1 not_mapped BB1745-1 317 1 1 JAK1 NCBI:3716 gene colorectal adenocarcinoma MONDO:0005008 PubMed:27903500 JAK1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene JAK1/NCBI:3716 presence of not_specified sequence variation BB1745-1 not_mapped BB1745-2 318 1 1 JAK1 NCBI:3716 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:27433843 JAK1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene JAK1/NCBI:3716 presence of not_specified sequence variation BB1745-2 not_mapped BB1746-1 319 1 1 JAK1 NCBI:3716 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:22955920 JAK1 (S646F;R683) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition JAK1 (S646F;R683) [biomarker_term_in_review] not_specified not_specified not_specified BB1746-1 not_mapped BB1747-1 320 1 1 JAK2 NCBI:3717 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:27433843 JAK2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene JAK2/NCBI:3717 presence of not_specified sequence variation BB1747-1 not_mapped BB1748-1 321 1 1 JAK2 NCBI:3717 gene acute myeloid leukemia MONDO:0018874 PubMed:22422826 JAK2:V617F assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V617F sequence variation in gene JAK2/NCBI:3717 presence of not_specified sequence variation BB1748-1 not_mapped BB1748-1 321 1 1 JAK2 NCBI:3717 gene acute myeloid leukemia MONDO:0018874 PubMed:22829971 JAK2:V617F assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V617F sequence variation in gene JAK2/NCBI:3717 presence of not_specified sequence variation BB1748-1 not_mapped BB1749-1 323 1 1 JAK2 NCBI:3717 gene breast adenocarcinoma MONDO:0004988 PubMed:27075627 JAK2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene JAK2/NCBI:3717 increased level not_specified BB1749-1 not_mapped BB1750-1 324 1 1 JAK2 NCBI:3717 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:22875628 JAK2-BRAF fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::jak2-braf:fusion sequence variation in gene JAK2/NCBI:3717 presence of not_specified sequence variation BB1750-1 not_mapped BB1751-1 325 1 1 JAK3 NCBI:3718 gene lymphoma MONDO:0005062 PubMed:22705984 JAK3:A572V assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::A572V sequence variation in gene JAK3/NCBI:3718 presence of not_specified sequence variation BB1751-1 not_mapped BB1752-1 326 1 1 KCNJ5 NCBI:3762 gene adrenal cortex adenoma MONDO:0003924 PubMed:24506072 KCNJ5:L168R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L168R sequence variation in gene KCNJ5/NCBI:3762 presence of not_specified sequence variation BB1752-1 not_mapped BB1753-1 327 1 1 KDR NCBI:3791 gene cancer MONDO:0004992 PubMed:24569783 KDR:A1065T assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::A1065T sequence variation in gene KDR/NCBI:3791 presence of not_specified sequence variation BB1753-1 not_mapped BB1755-1 329 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:18955458 KIT mutation in exon 11 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::mutation:in:exon:11 sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1755-1 not_mapped BB1755-1 329 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:22898035 KIT mutation in exon 11 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::mutation:in:exon:11 sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1755-1 not_mapped BB1756-1 330 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:22270258 KIT mutation in exon 9 or 11 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::mutation:in:exon:9:or:11 sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1756-1 not_mapped BB1754-2 331 1 1 KIT NCBI:3815 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:19671763 KIT mutation in exon 9,11,13,14 or 17 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::mutation:in:exon:9,11,13,14:or:17 sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1754-2 not_mapped BB1754-2 331 1 1 KIT NCBI:3815 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:18421059 KIT mutation in exon 9,11,13,14 or 17 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::mutation:in:exon:9,11,13,14:or:17 sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1754-2 not_mapped BB1754-2 331 1 1 KIT NCBI:3815 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22068222 KIT mutation in exon 9,11,13,14 or 17 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::mutation:in:exon:9,11,13,14:or:17 sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1754-2 not_mapped BB1757-1 332 1 1 KIT NCBI:3815 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:18936790 KIT (550-592,627-664,788-828,829-860) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition KIT (550-592,627-664,788-828,829-860) [biomarker_term_in_review] not_specified not_specified not_specified BB1757-1 not_mapped BB1758-1 333 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:18955458 KIT (627-664,664-714,449-514) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition KIT (627-664,664-714,449-514) [biomarker_term_in_review] not_specified not_specified not_specified BB1758-1 not_mapped BB1759-1 334 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:23840364 KIT mutation in exon 17 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::mutation:in:exon:17 sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1759-1 not_mapped BB1759-1 334 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:22119758 KIT mutation in exon 17 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::mutation:in:exon:17 sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1759-1 not_mapped BB1760-1 335 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:21737509 KIT mutation in exon 9 or 17 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::mutation:in:exon:9:or:17 sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1760-1 not_mapped BB1761-1 336 1 1 KIT NCBI:3815 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:21690468 KIT mutation in exon 17 or 18 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::mutation:in:exon:17:or:18 sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1761-1 not_mapped BB1763-1 338 1 1 KIT NCBI:3815 gene acute myeloid leukemia MONDO:0018874 PubMed:15618474 416-422 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition 416-422 [biomarker_term_in_review] not_specified not_specified not_specified BB1763-1 not_mapped AN5313-2 339 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:18955458 KIT wildtype assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition KIT wildtype [biomarker_term_in_review] not_specified not_specified not_specified AN5313-2 not_mapped AN5313-2 339 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:16397263 KIT wildtype assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition KIT wildtype [biomarker_term_in_review] not_specified not_specified not_specified AN5313-2 not_mapped BB1764-1 340 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:25239608 KIT:A829P assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::A829P sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1764-1 not_mapped BB1766-1 342 1 1 KIT NCBI:3815 gene acute myeloid leukemia MONDO:0018874 PubMed:18986703 KIT:D816V assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D816V sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1766-1 not_mapped BB1766-2 343 1 1 KIT NCBI:3815 gene systemic mastocytosis MONDO:0016586 PubMed:18559612 KIT:D816V assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D816V sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1766-2 not_mapped BB1767-1 344 1 1 KIT NCBI:3815 gene cancer MONDO:0004992 PubMed:16397263 KIT:D816Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D816Y sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1767-1 not_mapped BB1768-1 345 1 1 KIT NCBI:3815 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23775962 KIT:D820Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D820Y sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1768-1 not_mapped BB1768-1 345 1 1 KIT NCBI:3815 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:25695690 KIT:D820Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D820Y sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1768-1 not_mapped BB1769-1 346 1 1 KIT NCBI:3815 gene acute myeloid leukemia MONDO:0018874 PubMed:23149070 KIT:N822K assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::N822K sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1769-1 not_mapped BB1770-1 347 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:24687822 KIT:T670I assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::T670I sequence variation in gene KIT/NCBI:3815 presence of not_specified sequence variation BB1770-1 not_mapped BB1771-1 348 1 1 KIT NCBI:3815 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:23582185 KIT (V559I,H697Y,T670,V654A,A829P,D816,N822,Y823D) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition KIT (V559I,H697Y,T670,V654A,A829P,D816,N822,Y823D) [biomarker_term_in_review] not_specified not_specified not_specified BB1771-1 not_mapped AN5272-2 349 1 1 KIT NCBI:3815 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23775962 KIT amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene KIT/NCBI:3815 increased level not_specified AN5272-2 not_mapped AN5272-2 349 1 1 KIT NCBI:3815 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22261812 KIT amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene KIT/NCBI:3815 increased level not_specified AN5272-2 not_mapped BB1772-1 350 1 1 KRAS NCBI:3845 gene lung cancer MONDO:0008903 PubMed:26802155 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-1 not_mapped BB1772-3 352 1 1 KRAS NCBI:3845 gene non-small cell lung carcinoma (disease) MONDO:0005233 PubMed:19238210 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-3 not_mapped BB1772-5 354 1 1 KRAS NCBI:3845 gene gastric carcinoma MONDO:0004950 PubMed:22614881 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-5 not_mapped BB1772-6 355 1 1 KRAS NCBI:3845 gene cancer MONDO:0004992 PubMed:26552009 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-6 not_mapped BB1772-7 356 1 1 KRAS NCBI:3845 gene endometrial cancer MONDO:0011962 PubMed:22662154 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-7 not_mapped BB1772-8 357 1 1 KRAS NCBI:3845 gene ovarian cancer MONDO:0008170 PubMed:25968887 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-8 not_mapped BB1772-2 351 1 1 KRAS NCBI:3845 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:23583440 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-2 not_mapped BB1772-9 358 1 1 KRAS NCBI:3845 gene lung adenocarcinoma MONDO:0005061 PubMed:27338794 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-9 not_mapped BB1772-1 350 1 1 KRAS NCBI:3845 gene lung cancer MONDO:0008903 PubMed:23129625 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-1 not_mapped BB1772-1 350 1 1 KRAS NCBI:3845 gene lung cancer MONDO:0008903 PubMed:20609353 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-1 not_mapped BB1772-4 353 1 1 KRAS NCBI:3845 gene colorectal adenocarcinoma MONDO:0005008 PubMed:24553387 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-4 not_mapped BB1772-4 353 1 1 KRAS NCBI:3845 gene colorectal adenocarcinoma MONDO:0005008 PubMed:23614898 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-4 not_mapped BB1772-1 350 1 1 KRAS NCBI:3845 gene lung cancer MONDO:0008903 PubMed:23358651 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-1 not_mapped BB1772-1 350 1 1 KRAS NCBI:3845 gene lung cancer MONDO:0008903 PubMed:23012248 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-1 not_mapped BB1772-1 350 1 1 KRAS NCBI:3845 gene lung cancer MONDO:0008903 PubMed:24444711 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-1 not_mapped BB1772-4 353 1 1 KRAS NCBI:3845 gene colorectal adenocarcinoma MONDO:0005008 PubMed:23245996 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-4 not_mapped BB1772-4 353 1 1 KRAS NCBI:3845 gene colorectal adenocarcinoma MONDO:0005008 PubMed:24045180 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-4 not_mapped BB1772-4 353 1 1 KRAS NCBI:3845 gene colorectal adenocarcinoma MONDO:0005008 PubMed:22392911 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-4 not_mapped BB1772-1 350 1 1 KRAS NCBI:3845 gene Lung;Billiary tract MONDO:0008903 PubMed:23200175 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-1 not_mapped BB1772-10 359 1 1 KRAS NCBI:3845 gene Acute myeloid leukemia;Cervix;Ovary MONDO:0018874 PubMed:22507781 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-10 not_mapped BB1772-4 353 1 1 KRAS NCBI:3845 gene colorectal adenocarcinoma MONDO:0005008 PubMed:24163374 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-4 not_mapped BB1772-1 350 1 1 KRAS NCBI:3845 gene lung cancer MONDO:0008903 PubMed:25516890 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-1 not_mapped BB1772-7 356 1 1 KRAS NCBI:3845 gene endometrial cancer MONDO:0011962 PubMed:21984976 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-7 not_mapped BB1772-1 350 1 1 KRAS NCBI:3845 gene lung cancer MONDO:0008903 PubMed:27217383 KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1772-1 not_mapped BB1775-1 362 1 1 KRAS NCBI:3845 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:24687822 KRAS (G12) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition KRAS (G12) [biomarker_term_in_review] not_specified not_specified not_specified BB1775-1 not_mapped BB1775-2 363 1 1 KRAS NCBI:3845 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:18701506 KRAS (G12) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition KRAS (G12) [biomarker_term_in_review] not_specified not_specified not_specified BB1775-2 not_mapped BB1776-1 364 1 1 KRAS NCBI:3845 gene colorectal adenocarcinoma MONDO:0005008 PubMed:27114605 KRAS:G13D assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G13D sequence variation in gene KRAS/NCBI:3845 presence of not_specified sequence variation BB1776-1 not_mapped BB1777-1 366 1 1 LRP1B NCBI:53353 gene ovarian cancer MONDO:0008170 PubMed:22896685 LRP1B oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene LRP1B/NCBI:53353 presence of not_specified sequence variation BB1777-1 not_mapped AN5353-2 367 1 1 LRP1B NCBI:53353 gene ovarian cancer MONDO:0008170 PubMed:22896685 LRP1B deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene LRP1B/NCBI:53353 presence of not_specified sequence variation AN5353-2 not_mapped BB1778-1 368 1 1 MAP2K1 NCBI:5604 gene colorectal adenocarcinoma MONDO:0005008 PubMed:26030179 MAP2K1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene MAP2K1/NCBI:5604 presence of not_specified sequence variation BB1778-1 not_mapped BB1779-1 369 1 1 MAP2K1 NCBI:5604 gene ovarian cancer MONDO:0008170 PubMed:26324360 MAP2K1 inframe deletion (56-60) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::inframe:deletion:(56-60) sequence variation in gene MAP2K1/NCBI:5604 presence of not_specified sequence variation BB1779-1 not_mapped BB1780-1 370 1 1 MAP2K1 NCBI:5604 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:24448821 MAP2K1:C121S assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::C121S sequence variation in gene MAP2K1/NCBI:5604 presence of not_specified sequence variation BB1780-1 not_mapped BB1781-1 371 1 1 MAP2K1 NCBI:5604 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23569304 MAP2K1:E203K assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::E203K sequence variation in gene MAP2K1/NCBI:5604 presence of not_specified sequence variation BB1781-1 not_mapped BB1782-1 372 1 1 MAP2K1 NCBI:5604 gene cancer MONDO:0004992 PubMed:23614898 MAP2K1 (F129L,L215P,I103N,P124) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition MAP2K1 (F129L,L215P,I103N,P124) [biomarker_term_in_review] not_specified not_specified not_specified BB1782-1 not_mapped BB1783-1 373 1 1 MAP2K1 NCBI:5604 gene cancer MONDO:0004992 PubMed:19915144 MAP2K1 (I99T,L115,G128D,F129L,V211D,L215P,I103N,K104N,I111N,H119P,E120D,F133L,P124,D67N) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition MAP2K1 (I99T,L115,G128D,F129L,V211D,L215P,I103N,K104N,I111N,H119P,E120D,F133L,P124,D67N) [biomarker_term_in_review] not_specified not_specified not_specified BB1783-1 not_mapped BB1784-1 374 1 1 MAP2K1 NCBI:5604 gene colorectal adenocarcinoma MONDO:0005008 PubMed:26644315 MAP2K1:K57T assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::K57T sequence variation in gene MAP2K1/NCBI:5604 presence of not_specified sequence variation BB1784-1 not_mapped BB1785-1 375 1 1 MAP2K1 NCBI:5604 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:25370473 MAP2K1 (P124) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition MAP2K1 (P124) [biomarker_term_in_review] not_specified not_specified not_specified BB1785-1 not_mapped BB1786-1 376 1 1 MAP2K1 NCBI:5604 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:19915144 MAP2K1:P124L assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::P124L sequence variation in gene MAP2K1/NCBI:5604 presence of not_specified sequence variation BB1786-1 not_mapped BB1787-1 377 1 1 MAP2K1 NCBI:5604 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:22588879 MAP2K1 (P124S,I111S) + BRAF oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::(p124s,i111s):+:braf:oncogenic:mutation sequence variation in gene MAP2K1/NCBI:5604 presence of not_specified sequence variation BB1787-1 not_mapped BB1788-1 378 1 1 MAP2K1 NCBI:5604 gene cancer MONDO:0004992 PubMed:26582713 MAP2K1:Q56P assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::Q56P sequence variation in gene MAP2K1/NCBI:5604 presence of not_specified sequence variation BB1788-1 not_mapped BB1788-2 379 1 1 MAP2K1 NCBI:5604 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:19915144 MAP2K1:Q56P assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::Q56P sequence variation in gene MAP2K1/NCBI:5604 presence of not_specified sequence variation BB1788-2 not_mapped BB1789-1 380 1 1 MAP2K1 NCBI:5604 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:19915144 MAP2K1 (Q56P,P124S,P124L;C121S) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition MAP2K1 (Q56P,P124S,P124L;C121S) [biomarker_term_in_review] not_specified not_specified not_specified BB1789-1 not_mapped BB1790-1 381 1 1 MAP2K2 NCBI:5605 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:24265154 MAP2K2:Q60P assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::Q60P sequence variation in gene MAP2K2/NCBI:5605 presence of not_specified sequence variation BB1790-1 not_mapped BB1791-1 382 1 1 MAP2K2 NCBI:5605 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:24265153 MAP2K2:V35M assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V35M sequence variation in gene MAP2K2/NCBI:5605 presence of not_specified sequence variation BB1791-1 not_mapped BB1792-1 383 1 1 MCL1 NCBI:4170 gene cancer MONDO:0004992 PubMed:21368834 MCL1 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MCL1/NCBI:4170 increased level not_specified BB1792-1 not_mapped BB1793-1 384 1 1 MDM2 NCBI:4193 gene liposarcoma MONDO:0005060 PubMed:23084521 MDM2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MDM2/NCBI:4193 increased level not_specified BB1793-1 not_mapped BB1794-1 385 1 1 MDM4 NCBI:4194 gene sarcoma MONDO:0005089 PubMed:24336067 MDM4 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MDM4/NCBI:4194 increased level not_specified BB1794-1 not_mapped BB1795-1 386 1 1 MET NCBI:4233 gene lung adenocarcinoma MONDO:0005061 PubMed:27694386 MET:D1246V assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D1246V sequence variation in gene MET/NCBI:4233 presence of not_specified sequence variation BB1795-1 not_mapped BB1797-1 388 1 1 MET NCBI:4233 gene cancer MONDO:0004992 PubMed:17483355 MET:V1110I assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V1110I sequence variation in gene MET/NCBI:4233 presence of not_specified sequence variation BB1797-1 not_mapped BB1798-1 389 1 1 MET NCBI:4233 gene cancer MONDO:0004992 PubMed:17483355 MET (Y1230C;Y1235D) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition MET (Y1230C;Y1235D) [biomarker_term_in_review] not_specified not_specified not_specified BB1798-1 not_mapped AN5370-8 390 1 1 MET NCBI:4233 gene Non-small cell lung;Colorectal adenocarcinoma MONDO:0005233 PubMed:22189054 MET amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MET/NCBI:4233 increased level not_specified AN5370-8 not_mapped AN5370-9 391 1 1 MET NCBI:4233 gene lung adenocarcinoma MONDO:0005061 PubMed:27252416 MET amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MET/NCBI:4233 increased level not_specified AN5370-9 not_mapped AN5370-10 392 1 1 MET NCBI:4233 gene colorectal adenocarcinoma MONDO:0005008 PubMed:23729478 MET amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MET/NCBI:4233 increased level not_specified AN5370-10 not_mapped AN5370-11 393 1 1 MET NCBI:4233 gene malignant glioma MONDO:0015917 PubMed:22162573 MET amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MET/NCBI:4233 increased level not_specified AN5370-11 not_mapped AN5370-10 392 1 1 MET NCBI:4233 gene colorectal adenocarcinoma MONDO:0005008 PubMed:27397505 MET amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MET/NCBI:4233 increased level not_specified AN5370-10 not_mapped AN5370-12 394 1 1 MET NCBI:4233 gene gastric carcinoma MONDO:0004950 PubMed:22729845 MET amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MET/NCBI:4233 increased level not_specified AN5370-12 not_mapped BB1799-1 395 1 1 MET NCBI:4233 gene colorectal adenocarcinoma MONDO:0005008 PubMed:27325282 MET amplification + BRAF (V600E) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition MET amplification + BRAF (V600E) [biomarker_term_in_review] not_specified not_specified not_specified BB1799-1 not_mapped BB1801-1 397 1 1 MET NCBI:4233 gene gastric carcinoma MONDO:0004950 PubMed:22238368 MET amplification + ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition MET amplification + ERBB2 amplification [biomarker_term_in_review] not_specified not_specified not_specified BB1801-1 not_mapped BB1801-2 398 1 1 MET NCBI:4233 gene breast adenocarcinoma MONDO:0004988 PubMed:22850551 MET amplification + ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition MET amplification + ERBB2 amplification [biomarker_term_in_review] not_specified not_specified not_specified BB1801-2 not_mapped BB1801-2 398 1 1 MET NCBI:4233 gene Breast adenocarcinoma;Stomach MONDO:0004988 PubMed:22850551 MET amplification + ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition MET amplification + ERBB2 amplification [biomarker_term_in_review] not_specified not_specified not_specified BB1801-2 not_mapped BB1801-1 397 1 1 MET NCBI:4233 gene gastric carcinoma MONDO:0004950 PubMed:26432108 MET amplification + ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition MET amplification + ERBB2 amplification [biomarker_term_in_review] not_specified not_specified not_specified BB1801-1 not_mapped BB1802-1 399 1 1 MET NCBI:4233 gene malignant glioma MONDO:0015917 PubMed:27748748 MET fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene MET/NCBI:4233 presence of not_specified sequence variation BB1802-1 not_mapped BB1803-1 400 1 1 MITF NCBI:4286 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:24265153 MITF amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MITF/NCBI:4286 increased level not_specified BB1803-1 not_mapped BB1806-1 403 1 1 MSH3 NCBI:4437 gene cancer MONDO:0004992 PubMed:24556366 MSH3 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene MSH3/NCBI:4437 presence of not_specified sequence variation BB1806-1 not_mapped BB1807-1 404 1 1 MTOR NCBI:2475 gene childhood bladder carcinoma MONDO:0022578 PubMed:24625776 MTOR:E2014K assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::E2014K sequence variation in gene MTOR/NCBI:2475 presence of not_specified sequence variation BB1807-1 not_mapped BB1808-1 405 1 1 MTOR NCBI:2475 gene cancer MONDO:0004992 PubMed:25295501 MTOR:F2108L assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::F2108L sequence variation in gene MTOR/NCBI:2475 presence of not_specified sequence variation BB1808-1 not_mapped BB1811-1 408 1 1 MTOR NCBI:2475 gene cancer MONDO:0004992 PubMed:24631838 MTOR:L1460P assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::L1460P sequence variation in gene MTOR/NCBI:2475 presence of not_specified sequence variation BB1811-1 not_mapped BB1812-1 409 1 1 MTOR NCBI:2475 gene gastric carcinoma MONDO:0004950 PubMed:26859683 MTOR:N1421D assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::N1421D sequence variation in gene MTOR/NCBI:2475 presence of not_specified sequence variation BB1812-1 not_mapped BB1813-1 410 1 1 MYC NCBI:4609 gene colorectal adenocarcinoma MONDO:0005008 PubMed:27397505 MYC amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MYC/NCBI:4609 increased level not_specified BB1813-1 not_mapped BB1813-2 411 1 1 MYC NCBI:4609 gene Myeloma;Neuroblastoma MONDO:0005170 PubMed:21889194 MYC amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MYC/NCBI:4609 increased level not_specified BB1813-2 not_mapped BB1813-3 412 1 1 MYC NCBI:4609 gene neuroblastoma MONDO:0005072 PubMed:25416950 MYC amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MYC/NCBI:4609 increased level not_specified BB1813-3 not_mapped BB1813-3 412 1 1 MYC NCBI:4609 gene neuroblastoma MONDO:0005072 PubMed:26537256 MYC amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MYC/NCBI:4609 increased level not_specified BB1813-3 not_mapped BB1813-4 413 1 1 MYC NCBI:4609 gene prostate adenocarcinoma MONDO:0005082 PubMed:25505253 MYC amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MYC/NCBI:4609 increased level not_specified BB1813-4 not_mapped AN5451-2 414 1 1 MYCN NCBI:4613 gene medulloblastoma MONDO:0007959 PubMed:24951114 MYCN amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene MYCN/NCBI:4613 increased level not_specified AN5451-2 not_mapped BB1814-1 415 1 1 NF1 NCBI:4763 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23171796 NF1 biallelic inactivation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition NF1 biallelic inactivation [biomarker_term_in_review] not_specified not_specified not_specified BB1814-1 not_mapped BB1815-3 418 1 1 NF1 NCBI:4763 gene malignant glioma MONDO:0015917 PubMed:24634382 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-3 not_mapped BB1815-1 416 1 1 NF1 NCBI:4763 gene plexiform neurofibroma (disease) MONDO:0003304 PubMed:24500418 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-1 not_mapped BB1815-4 419 1 1 NF1 NCBI:4763 gene pediatric osteosarcoma MONDO:0002623 PubMed:26325560 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-4 not_mapped BB1815-5 420 1 1 NF1 NCBI:4763 gene lung cancer MONDO:0008903 PubMed:24296828 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-5 not_mapped BB1815-5 420 1 1 NF1 NCBI:4763 gene lung cancer MONDO:0008903 PubMed:24535670 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-5 not_mapped BB1815-6 421 1 1 NF1 NCBI:4763 gene neuroblastoma MONDO:0005072 PubMed:20655465 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-6 not_mapped BB1815-3 418 1 1 NF1 NCBI:4763 gene malignant glioma MONDO:0015917 PubMed:24232489 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-3 not_mapped BB1815-1 416 1 1 NF1 NCBI:4763 gene plexiform neurofibroma (disease) MONDO:0003304 PubMed:23099009 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-1 not_mapped BB1815-1 416 1 1 NF1 NCBI:4763 gene Plexiform neurofibroma;Malignant peripheral nerve sheat tumor MONDO:0003304 PubMed:24173684 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-1 not_mapped BB1815-1 416 1 1 NF1 NCBI:4763 gene plexiform neurofibroma (disease) MONDO:0003304 PubMed:23099891 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-1 not_mapped BB1815-1 416 1 1 NF1 NCBI:4763 gene plexiform neurofibroma (disease) MONDO:0003304 PubMed:25314964 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-1 not_mapped BB1815-3 418 1 1 NF1 NCBI:4763 gene malignant glioma MONDO:0015917 PubMed:22434731 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-3 not_mapped BB1815-2 417 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:25810463 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-2 not_mapped BB1815-2 417 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:21075781 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-2 not_mapped BB1815-3 418 1 1 NF1 NCBI:4763 gene malignant glioma MONDO:0015917 PubMed:26936308 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-3 not_mapped BB1815-8 423 1 1 NF1 NCBI:4763 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:24576830 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-8 not_mapped BB1815-2 417 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:24373973 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-2 not_mapped BB1815-2 417 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:24718867 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-2 not_mapped BB1815-3 418 1 1 NF1 NCBI:4763 gene Glioma;Leukemia MONDO:0015917 PubMed:22573716 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-3 not_mapped BB1815-2 417 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:23221341 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-2 not_mapped BB1815-2 417 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:21907929 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-2 not_mapped BB1815-3 418 1 1 NF1 NCBI:4763 gene Glioma;Malignant peripheral nerve sheat tumor;Leukemia MONDO:0015917 PubMed:19573811 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-3 not_mapped BB1815-8 423 1 1 NF1 NCBI:4763 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:26351322 NF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1815-8 not_mapped BB1816-1 424 1 1 NF1 NCBI:4763 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23444215 NF1 oncogenic mutation + BRAF oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation:+:braf:oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1816-1 not_mapped BB1816-1 424 1 1 NF1 NCBI:4763 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23288408 NF1 oncogenic mutation + BRAF oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation:+:braf:oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1816-1 not_mapped BB1817-3 427 1 1 NF1 NCBI:4763 gene malignant glioma MONDO:0015917 PubMed:24634382 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-3 not_mapped BB1817-1 425 1 1 NF1 NCBI:4763 gene plexiform neurofibroma (disease) MONDO:0003304 PubMed:24500418 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-1 not_mapped BB1817-4 428 1 1 NF1 NCBI:4763 gene pediatric osteosarcoma MONDO:0002623 PubMed:26325560 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-4 not_mapped BB1817-5 429 1 1 NF1 NCBI:4763 gene lung cancer MONDO:0008903 PubMed:24296828 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-5 not_mapped BB1817-5 429 1 1 NF1 NCBI:4763 gene lung cancer MONDO:0008903 PubMed:24535670 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-5 not_mapped BB1817-6 430 1 1 NF1 NCBI:4763 gene neuroblastoma MONDO:0005072 PubMed:20655465 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-6 not_mapped BB1817-3 427 1 1 NF1 NCBI:4763 gene malignant glioma MONDO:0015917 PubMed:24232489 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-3 not_mapped BB1817-1 425 1 1 NF1 NCBI:4763 gene plexiform neurofibroma (disease) MONDO:0003304 PubMed:23099009 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-1 not_mapped BB1817-1 425 1 1 NF1 NCBI:4763 gene Plexiform neurofibroma;Malignant peripheral nerve sheat tumor MONDO:0003304 PubMed:24173684 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-1 not_mapped BB1817-1 425 1 1 NF1 NCBI:4763 gene plexiform neurofibroma (disease) MONDO:0003304 PubMed:23099891 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-1 not_mapped BB1817-1 425 1 1 NF1 NCBI:4763 gene plexiform neurofibroma (disease) MONDO:0003304 PubMed:25314964 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-1 not_mapped BB1817-3 427 1 1 NF1 NCBI:4763 gene malignant glioma MONDO:0015917 PubMed:22434731 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-3 not_mapped BB1817-2 426 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:25810463 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-2 not_mapped BB1817-2 426 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:21075781 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-2 not_mapped BB1817-3 427 1 1 NF1 NCBI:4763 gene malignant glioma MONDO:0015917 PubMed:26936308 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-3 not_mapped BB1817-7 431 1 1 NF1 NCBI:4763 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:24576830 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-7 not_mapped BB1817-2 426 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:24373973 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-2 not_mapped BB1817-2 426 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:24718867 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-2 not_mapped BB1817-3 427 1 1 NF1 NCBI:4763 gene Glioma;Leukemia MONDO:0015917 PubMed:22573716 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-3 not_mapped BB1817-2 426 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:23221341 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-2 not_mapped BB1817-2 426 1 1 NF1 NCBI:4763 gene malignant peripheral nerve sheath tumor MONDO:0017827 PubMed:21907929 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-2 not_mapped BB1817-3 427 1 1 NF1 NCBI:4763 gene Glioma;Malignant peripheral nerve sheat tumor;Leukemia MONDO:0015917 PubMed:19573811 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-3 not_mapped BB1817-7 431 1 1 NF1 NCBI:4763 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:26351322 NF1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1817-7 not_mapped BB1818-1 432 1 1 NF1 NCBI:4763 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23444215 NF1 deletion + BRAF oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion:+:braf:oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1818-1 not_mapped BB1818-1 432 1 1 NF1 NCBI:4763 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23288408 NF1 deletion + BRAF oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion:+:braf:oncogenic:mutation sequence variation in gene NF1/NCBI:4763 presence of not_specified sequence variation BB1818-1 not_mapped BB1819-1 433 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:20736812 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-1 not_mapped BB1819-1 433 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:21778190 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-1 not_mapped BB1819-1 433 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:19587327 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-1 not_mapped BB1819-1 433 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:24311643 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-1 not_mapped BB1819-2 434 1 1 NF2 NCBI:4771 gene pediatric meningioma MONDO:0003057 PubMed:26015296 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-2 not_mapped BB1819-1 433 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:19509233 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-1 not_mapped BB1819-3 435 1 1 NF2 NCBI:4771 gene breast adenocarcinoma MONDO:0004988 PubMed:25878190 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-3 not_mapped BB1819-4 436 1 1 NF2 NCBI:4771 gene Mesothelioma;Ovary MONDO:0002373 PubMed:24848258 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-4 not_mapped BB1819-2 434 1 1 NF2 NCBI:4771 gene pediatric meningioma MONDO:0003057 PubMed:23714726 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-2 not_mapped BB1819-5 437 1 1 NF2 NCBI:4771 gene thyroid cancer MONDO:0002108 PubMed:26359368 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-5 not_mapped BB1819-2 434 1 1 NF2 NCBI:4771 gene pediatric meningioma MONDO:0003057 PubMed:19451225 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-2 not_mapped BB1819-1 433 1 1 NF2 NCBI:4771 gene Schwannoma;Meningioma MONDO:0002546 PubMed:23960073 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-1 not_mapped BB1819-1 433 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:19359162 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-1 not_mapped BB1819-1 433 1 1 NF2 NCBI:4771 gene Schwannoma;Neurofibroma MONDO:0002546 PubMed:22844108 NF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1819-1 not_mapped BB1820-1 438 1 1 NF2 NCBI:4771 gene lung cancer MONDO:0008903 PubMed:24813888 NF2 oncogenic mutation + EGFR oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation:+:egfr:oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1820-1 not_mapped BB1821-1 439 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:20736812 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-1 not_mapped BB1821-1 439 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:21778190 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-1 not_mapped BB1821-1 439 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:19587327 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-1 not_mapped BB1821-1 439 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:24311643 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-1 not_mapped BB1821-2 440 1 1 NF2 NCBI:4771 gene pediatric meningioma MONDO:0003057 PubMed:26015296 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-2 not_mapped BB1821-1 439 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:19509233 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-1 not_mapped BB1821-3 441 1 1 NF2 NCBI:4771 gene breast adenocarcinoma MONDO:0004988 PubMed:25878190 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-3 not_mapped BB1821-4 442 1 1 NF2 NCBI:4771 gene Mesothelioma;Ovary MONDO:0002373 PubMed:24848258 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-4 not_mapped BB1821-2 440 1 1 NF2 NCBI:4771 gene pediatric meningioma MONDO:0003057 PubMed:23714726 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-2 not_mapped BB1821-5 443 1 1 NF2 NCBI:4771 gene thyroid cancer MONDO:0002108 PubMed:26359368 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-5 not_mapped BB1821-2 440 1 1 NF2 NCBI:4771 gene pediatric meningioma MONDO:0003057 PubMed:19451225 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-2 not_mapped BB1821-1 439 1 1 NF2 NCBI:4771 gene Schwannoma;Meningioma MONDO:0002546 PubMed:23960073 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-1 not_mapped BB1821-1 439 1 1 NF2 NCBI:4771 gene schwannoma MONDO:0002546 PubMed:19359162 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-1 not_mapped BB1821-1 439 1 1 NF2 NCBI:4771 gene Schwannoma;Neurofibroma MONDO:0002546 PubMed:22844108 NF2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1821-1 not_mapped BB1822-1 444 1 1 NF2 NCBI:4771 gene lung cancer MONDO:0008903 PubMed:24813888 NF2 deletion + EGFR oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion:+:egfr:oncogenic:mutation sequence variation in gene NF2/NCBI:4771 presence of not_specified sequence variation BB1822-1 not_mapped BB1823-1 445 1 1 NOTCH1 NCBI:4851 gene mantle cell lymphoma MONDO:0018876 PubMed:22210878 NOTCH1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NOTCH1/NCBI:4851 presence of not_specified sequence variation BB1823-1 not_mapped BB1824-2 447 1 1 NOTCH1 NCBI:4851 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:19318552 NOTCH1 activating mutation in Cterm-PEST domain assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::activating:mutation:in:cterm-pest:domain sequence variation in gene NOTCH1/NCBI:4851 presence of not_specified sequence variation BB1824-2 not_mapped BB1824-2 447 1 1 NOTCH1 NCBI:4851 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:19246562 NOTCH1 activating mutation in Cterm-PEST domain assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::activating:mutation:in:cterm-pest:domain sequence variation in gene NOTCH1/NCBI:4851 presence of not_specified sequence variation BB1824-2 not_mapped BB1824-2 447 1 1 NOTCH1 NCBI:4851 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:15472075 NOTCH1 activating mutation in Cterm-PEST domain assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::activating:mutation:in:cterm-pest:domain sequence variation in gene NOTCH1/NCBI:4851 presence of not_specified sequence variation BB1824-2 not_mapped BB1824-3 448 1 1 NOTCH1 NCBI:4851 gene breast adenocarcinoma MONDO:0004988 PubMed:25564152 NOTCH1 activating mutation in Cterm-PEST domain assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::activating:mutation:in:cterm-pest:domain sequence variation in gene NOTCH1/NCBI:4851 presence of not_specified sequence variation BB1824-3 not_mapped BB1825-1 449 1 1 NOTCH1 NCBI:4851 gene lung adenoid cystic carcinoma MONDO:0003181 PubMed:27870570 NOTCH1 splice donor variant (2245-2536),splice acceptor variant (2245-2536),stop gained (2245-2536),stop lost (2245-2536),frameshift variant (2245-2536) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition NOTCH1 splice donor variant (2245-2536),splice acceptor variant (2245-2536),stop gained (2245-2536),stop lost (2245-2536),frameshift variant (2245-2536) [biomarker_term_in_review] not_specified not_specified not_specified BB1825-1 not_mapped BB1826-1 450 1 1 NOTCH1 NCBI:4851 gene acute lymphoblastic leukemia (disease) MONDO:0004967 PubMed:16688224 NOTCH1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene NOTCH1/NCBI:4851 presence of not_specified sequence variation BB1826-1 not_mapped BB1826-2 451 1 1 NOTCH1 NCBI:4851 gene breast adenocarcinoma MONDO:0004988 PubMed:22101766 NOTCH1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene NOTCH1/NCBI:4851 presence of not_specified sequence variation BB1826-2 not_mapped BB1827-2 453 1 1 NOTCH2 NCBI:4853 gene Breast adenocarcinoma;Acute myeloid leukemia;Acute lymphoblastic leukemia MONDO:0004988 PubMed:25564152 NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::activating:mutation:(missense:in:tad:or:truncating:in:cterm-pest:domain) sequence variation in gene NOTCH2/NCBI:4853 presence of not_specified sequence variation BB1827-2 not_mapped BB1828-1 454 1 1 NOTCH2 NCBI:4853 gene breast adenocarcinoma MONDO:0004988 PubMed:22101766 NOTCH2 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene NOTCH2/NCBI:4853 presence of not_specified sequence variation BB1828-1 not_mapped BB1829-1 455 1 1 NPM1 NCBI:4869 gene acute myeloid leukemia MONDO:0018874 PubMed:22417203 NPM1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NPM1/NCBI:4869 presence of not_specified sequence variation BB1829-1 not_mapped BB1829-1 455 1 1 NPM1 NCBI:4869 gene acute myeloid leukemia MONDO:0018874 PubMed:27535106 NPM1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NPM1/NCBI:4869 presence of not_specified sequence variation BB1829-1 not_mapped BB1830-1 456 1 1 NRAS NCBI:4893 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:20179705 NRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NRAS/NCBI:4893 presence of not_specified sequence variation BB1830-1 not_mapped BB1830-1 456 1 1 NRAS NCBI:4893 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:26658964 NRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NRAS/NCBI:4893 presence of not_specified sequence variation BB1830-1 not_mapped BB1830-1 456 1 1 NRAS NCBI:4893 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23538902 NRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NRAS/NCBI:4893 presence of not_specified sequence variation BB1830-1 not_mapped BB1830-2 457 1 1 NRAS NCBI:4893 gene colorectal adenocarcinoma MONDO:0005008 PubMed:23274911 NRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NRAS/NCBI:4893 presence of not_specified sequence variation BB1830-2 not_mapped BB1830-3 458 1 1 NRAS NCBI:4893 gene Acute myeloid leukemia;Lung adenocarcinoma;Acute lymphoblastic leukemia MONDO:0018874 PubMed:22507781 NRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NRAS/NCBI:4893 presence of not_specified sequence variation BB1830-3 not_mapped BB1830-4 459 1 1 NRAS NCBI:4893 gene myeloid neoplasm MONDO:0005170 PubMed:22985491 NRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene NRAS/NCBI:4893 presence of not_specified sequence variation BB1830-4 not_mapped BB1831-1 460 1 1 NRAS NCBI:4893 gene colorectal adenocarcinoma MONDO:0005008 PubMed:24024839 NRAS (12,13,59,61,117,146) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition NRAS (12,13,59,61,117,146) [biomarker_term_in_review] not_specified not_specified not_specified BB1831-1 not_mapped BB1832-1 461 1 1 NRAS NCBI:4893 gene cancer MONDO:0004992 PubMed:23614898 NRAS:G12C assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G12C sequence variation in gene NRAS/NCBI:4893 presence of not_specified sequence variation BB1832-1 not_mapped FG2686-2 462 1 1 NRAS NCBI:4893 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23569304 NRAS (Q61) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition NRAS Q61 [biomarker_term_in_review] not_specified not_specified not_specified BB1833-1 not_mapped FG2686-2 462 1 1 NRAS NCBI:4893 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23414587,ASCO 2016 (abstr 9500) NRAS (Q61) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition NRAS Q61 [biomarker_term_in_review] not_specified not_specified not_specified BB1833-1 not_mapped AN5497-3 463 1 1 NRG1 NCBI:3084 gene lung adenocarcinoma MONDO:0005061 PubMed:24727320 NRG1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene NRG1/NCBI:3084 presence of not_specified sequence variation AN5497-3 not_mapped BB1834-1 464 1 1 NTRK1 NCBI:4914 gene cancer MONDO:0004992 PubMed:28578312 NTRK1:G595R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G595R sequence variation in gene NTRK1/NCBI:4914 presence of not_specified sequence variation BB1834-1 not_mapped BB1834-2 465 1 1 NTRK1 NCBI:4914 gene colorectal adenocarcinoma MONDO:0005008 PubMed:26546295 NTRK1:G595R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G595R sequence variation in gene NTRK1/NCBI:4914 presence of not_specified sequence variation BB1834-2 not_mapped AN5510-6 467 1 1 NTRK1 NCBI:4914 gene colorectal adenocarcinoma MONDO:0005008 PubMed:26546295 NTRK1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene NTRK1/NCBI:4914 presence of not_specified sequence variation AN5510-6 not_mapped AN5510-5 466 1 1 NTRK1 NCBI:4914 gene lung adenocarcinoma MONDO:0005061 PubMed:24162815 NTRK1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene NTRK1/NCBI:4914 presence of not_specified sequence variation AN5510-5 not_mapped AN5510-7 468 1 1 NTRK1 NCBI:4914 gene cancer MONDO:0004992 PubMed:28183697 NTRK1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene NTRK1/NCBI:4914 presence of not_specified sequence variation AN5510-7 not_mapped BB1835-1 469 1 1 NTRK3 NCBI:4916 gene cancer MONDO:0004992 PubMed:28578312 NTRK3:G623R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::G623R sequence variation in gene NTRK3/NCBI:4916 presence of not_specified sequence variation BB1835-1 not_mapped AN5535-2 470 1 1 NTRK3 NCBI:4916 gene breast adenocarcinoma MONDO:0004988 PubMed:21148487 NTRK3 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene NTRK3/NCBI:4916 presence of not_specified sequence variation AN5535-2 not_mapped BB1836-1 471 1 1 PAK1 NCBI:5058 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23535073 PAK1 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene PAK1/NCBI:5058 increased level not_specified BB1836-1 not_mapped BB1837-1 472 1 1 PALB2 NCBI:79728 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:21135251 PALB2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PALB2/NCBI:79728 presence of not_specified sequence variation BB1837-1 not_mapped BB1837-1 472 1 1 PALB2 NCBI:79728 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:25719666 PALB2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PALB2/NCBI:79728 presence of not_specified sequence variation BB1837-1 not_mapped BB1837-1 472 1 1 PALB2 NCBI:79728 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:25263539 PALB2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PALB2/NCBI:79728 presence of not_specified sequence variation BB1837-1 not_mapped BB1838-1 474 1 1 PALB2 NCBI:79728 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:21135251 PALB2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PALB2/NCBI:79728 presence of not_specified sequence variation BB1838-1 not_mapped BB1838-1 474 1 1 PALB2 NCBI:79728 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:25719666 PALB2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PALB2/NCBI:79728 presence of not_specified sequence variation BB1838-1 not_mapped BB1838-1 474 1 1 PALB2 NCBI:79728 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:25263539 PALB2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PALB2/NCBI:79728 presence of not_specified sequence variation BB1838-1 not_mapped BB1839-1 476 1 1 PBRM1 NCBI:55193 gene cancer MONDO:0004992 PubMed:26552009 PBRM1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PBRM1/NCBI:55193 presence of not_specified sequence variation BB1839-1 not_mapped BB1840-1 477 1 1 PBRM1 NCBI:55193 gene cancer MONDO:0004992 PubMed:26552009 PBRM1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PBRM1/NCBI:55193 presence of not_specified sequence variation BB1840-1 not_mapped BB1844-1 481 1 1 PDGFRA NCBI:5156 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:14645423 PDGFRA wildtype assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition PDGFRA wildtype [biomarker_term_in_review] not_specified not_specified not_specified BB1844-1 not_mapped BB1844-1 481 1 1 PDGFRA NCBI:5156 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:16397263 PDGFRA wildtype assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition PDGFRA wildtype [biomarker_term_in_review] not_specified not_specified not_specified BB1844-1 not_mapped BB1844-1 481 1 1 PDGFRA NCBI:5156 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:18955458 PDGFRA wildtype assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition PDGFRA wildtype [biomarker_term_in_review] not_specified not_specified not_specified BB1844-1 not_mapped BB1845-1 482 1 1 PDGFRA NCBI:5156 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:22718859 PDGFRA:D842V assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D842V sequence variation in gene PDGFRA/NCBI:5156 presence of not_specified sequence variation BB1845-1 not_mapped BB1845-1 482 1 1 PDGFRA NCBI:5156 gene gastrointestinal stromal tumor MONDO:0011719 PubMed:18794084 PDGFRA:D842V assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D842V sequence variation in gene PDGFRA/NCBI:5156 presence of not_specified sequence variation BB1845-1 not_mapped BB1846-1 483 1 1 PDGFRA NCBI:5156 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:24132921 PDGFRA:P577S assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::P577S sequence variation in gene PDGFRA/NCBI:5156 presence of not_specified sequence variation BB1846-1 not_mapped BB1847-1 484 1 1 PDGFRA NCBI:5156 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:24132921 PDGFRA:V658A assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::V658A sequence variation in gene PDGFRA/NCBI:5156 presence of not_specified sequence variation BB1847-1 not_mapped AN5551-2 485 1 1 PDGFRA NCBI:5156 gene malignant glioma MONDO:0015917 PubMed:23544171 PDGFRA amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene PDGFRA/NCBI:5156 increased level not_specified AN5551-2 not_mapped BB1848-1 486 1 1 PDPK1 NCBI:5170 gene breast adenocarcinoma MONDO:0004988 PubMed:19602588 PDPK1 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene PDPK1/NCBI:5170 increased level not_specified BB1848-1 not_mapped BB1849-2 488 1 1 PIK3CA NCBI:5290 gene colorectal adenocarcinoma MONDO:0005008 PubMed:19223544 PIK3CA oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PIK3CA/NCBI:5290 presence of not_specified sequence variation BB1849-2 not_mapped BB1849-1 487 1 1 PIK3CA NCBI:5290 gene Lung;Colorectal adenocarcinoma MONDO:0008903 PubMed:23136191 PIK3CA oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PIK3CA/NCBI:5290 presence of not_specified sequence variation BB1849-1 not_mapped BB1849-3 489 1 1 PIK3CA NCBI:5290 gene Breast adenocarcinoma;Ovary;Cervix squamous cell;Endometrium MONDO:0004988 PubMed:22271473 PIK3CA oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PIK3CA/NCBI:5290 presence of not_specified sequence variation BB1849-3 not_mapped BB1849-5 491 1 1 PIK3CA NCBI:5290 gene Glioma;Thyroid carcinoma MONDO:0015917 PubMed:19671762 PIK3CA oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PIK3CA/NCBI:5290 presence of not_specified sequence variation BB1849-5 not_mapped BB1849-3 489 1 1 PIK3CA NCBI:5290 gene breast adenocarcinoma MONDO:0004988 PubMed:28331003 PIK3CA oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PIK3CA/NCBI:5290 presence of not_specified sequence variation BB1849-3 not_mapped BB1850-1 493 1 1 PIK3CA NCBI:5290 gene breast adenocarcinoma MONDO:0004988 PubMed:27091708 PIK3CA oncogenic mutation + ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation:+:erbb2:amplification sequence variation in gene PIK3CA/NCBI:5290 presence of not_specified sequence variation BB1850-1 not_mapped AN5576-7 495 1 1 PIK3CA NCBI:5290 gene breast adenocarcinoma MONDO:0004988 PubMed:24366379 PIK3CA amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene PIK3CA/NCBI:5290 increased level not_specified AN5576-7 not_mapped BB1852-1 496 1 1 PIK3CB NCBI:5291 gene breast adenocarcinoma MONDO:0004988 PubMed:26759240 PIK3CB:D1067Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D1067Y sequence variation in gene PIK3CB/NCBI:5291 presence of not_specified sequence variation BB1852-1 not_mapped BB1853-1 497 1 1 PIK3R1 NCBI:5295 gene malignant glioma MONDO:0015917 PubMed:23166678 PIK3R1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PIK3R1/NCBI:5295 presence of not_specified sequence variation BB1853-1 not_mapped BB1854-1 499 1 1 PIK3R2 NCBI:5296 gene endometrial cancer MONDO:0011962 PubMed:21984976 PIK3R2:A171V assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::A171V sequence variation in gene PIK3R2/NCBI:5296 presence of not_specified sequence variation BB1854-1 not_mapped BB1855-1 500 1 1 PLCG2 NCBI:5336 gene B-cell chronic lymphocytic leukemia MONDO:0004948 PubMed:24869598 PLCG2:R665W assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::R665W sequence variation in gene PLCG2/NCBI:5336 presence of not_specified sequence variation BB1855-1 not_mapped BB1857-1 503 1 1 POLE NCBI:5426 gene colorectal adenocarcinoma MONDO:0005008 PubMed:28188185 POLE oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene POLE/NCBI:5426 presence of not_specified sequence variation BB1857-1 not_mapped BB1858-1 504 1 1 POLE NCBI:5426 gene Glioma;Endometrium MONDO:0015917 PubMed:27001570 POLE (268-471) assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition POLE (268-471) [biomarker_term_in_review] not_specified not_specified not_specified BB1858-1 not_mapped BB1859-1 505 1 1 PRKCH NCBI:5583 gene chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011996 PubMed:25186176 PRKCH amplification + ABL1-BCR fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::amplification:+:abl1-bcr:fusion sequence variation in gene PRKCH/NCBI:5583 presence of not_specified sequence variation BB1859-1 not_mapped BB1860-1 506 1 1 PTCH1 NCBI:5727 gene medulloblastoma MONDO:0007959 PubMed:24651015 PTCH1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTCH1/NCBI:5727 presence of not_specified sequence variation BB1860-1 not_mapped BB1860-1 506 1 1 PTCH1 NCBI:5727 gene medulloblastoma MONDO:0007959 PubMed:25391241 PTCH1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTCH1/NCBI:5727 presence of not_specified sequence variation BB1860-1 not_mapped BB1860-2 507 1 1 PTCH1 NCBI:5727 gene Basal cell carcinoma;Medulloblastoma MONDO:0005341 PubMed:19726763 PTCH1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTCH1/NCBI:5727 presence of not_specified sequence variation BB1860-2 not_mapped BB1861-1 508 1 1 PTEN NCBI:5728 gene breast adenocarcinoma MONDO:0004988 PubMed:25409150 PTEN biallelic inactivation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition PTEN biallelic inactivation [biomarker_term_in_review] not_specified not_specified not_specified BB1861-1 not_mapped BB1862-1 510 1 1 PTEN NCBI:5728 gene endometrial cancer MONDO:0011962 PubMed:21788564 PTEN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1862-1 not_mapped BB1862-2 511 1 1 PTEN NCBI:5728 gene colorectal adenocarcinoma MONDO:0005008 PubMed:21163703 PTEN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1862-2 not_mapped BB1862-3 512 1 1 PTEN NCBI:5728 gene prostate adenocarcinoma MONDO:0005082 PubMed:23582881 PTEN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1862-3 not_mapped BB1862-5 514 1 1 PTEN NCBI:5728 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:22025163 PTEN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1862-5 not_mapped BB1862-6 515 1 1 PTEN NCBI:5728 gene breast adenocarcinoma MONDO:0004988 PubMed:27397505 PTEN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1862-6 not_mapped BB1862-1 510 1 1 PTEN NCBI:5728 gene endometrial cancer MONDO:0011962 PubMed:21468130 PTEN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1862-1 not_mapped BB1862-7 516 1 1 PTEN NCBI:5728 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:26645196 PTEN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1862-7 not_mapped BB1862-3 512 1 1 PTEN NCBI:5728 gene prostate adenocarcinoma MONDO:0005082 PubMed:21575859 PTEN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1862-3 not_mapped BB1862-8 517 1 1 PTEN NCBI:5728 gene ovarian cancer MONDO:0008170 PubMed:21632463 PTEN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1862-8 not_mapped BB1862-9 518 1 1 PTEN NCBI:5728 gene Thyroid;Glioma;Lung;Ovary;Breast adenocarcinoma;Any cancer type;Endometrium MONDO:0002108 PubMed:21289267 PTEN oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1862-9 not_mapped BB1863-1 519 1 1 PTEN NCBI:5728 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23039341 PTEN oncogenic mutation + BRAF oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation:+:braf:oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1863-1 not_mapped BB1864-1 520 1 1 PTEN NCBI:5728 gene breast adenocarcinoma MONDO:0004988 PubMed:27091708 PTEN oncogenic mutation + ERBB2 amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation:+:erbb2:amplification sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1864-1 not_mapped AN5659-3 521 1 1 PTEN NCBI:5728 gene endometrial cancer MONDO:0011962 PubMed:21788564 PTEN deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation AN5659-3 not_mapped AN5659-4 522 1 1 PTEN NCBI:5728 gene colorectal adenocarcinoma MONDO:0005008 PubMed:21163703 PTEN deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation AN5659-4 not_mapped AN5659-5 523 1 1 PTEN NCBI:5728 gene prostate adenocarcinoma MONDO:0005082 PubMed:23582881 PTEN deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation AN5659-5 not_mapped AN5659-7 525 1 1 PTEN NCBI:5728 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:22025163 PTEN deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation AN5659-7 not_mapped AN5659-3 521 1 1 PTEN NCBI:5728 gene endometrial cancer MONDO:0011962 PubMed:21468130 PTEN deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation AN5659-3 not_mapped AN5659-8 526 1 1 PTEN NCBI:5728 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:26645196 PTEN deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation AN5659-8 not_mapped AN5659-5 523 1 1 PTEN NCBI:5728 gene prostate adenocarcinoma MONDO:0005082 PubMed:21575859 PTEN deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation AN5659-5 not_mapped AN5659-9 527 1 1 PTEN NCBI:5728 gene ovarian cancer MONDO:0008170 PubMed:21632463 PTEN deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation AN5659-9 not_mapped AN5659-10 528 1 1 PTEN NCBI:5728 gene Thyroid;Glioma;Lung;Ovary;Breast adenocarcinoma;Any cancer type;Endometrium MONDO:0002108 PubMed:21289267 PTEN deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation AN5659-10 not_mapped BB1865-1 529 1 1 PTEN NCBI:5728 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23039341 PTEN deletion + BRAF oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion:+:braf:oncogenic:mutation sequence variation in gene PTEN/NCBI:5728 presence of not_specified sequence variation BB1865-1 not_mapped BB1866-1 530 1 1 PTPRD NCBI:5789 gene sarcoma MONDO:0005089 PubMed:23800680 PTPRD oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene PTPRD/NCBI:5789 presence of not_specified sequence variation BB1866-1 not_mapped BB1867-1 531 1 1 RAC1 NCBI:5879 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:25056119 RAC1 (P29S) + BRAF oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::(p29s):+:braf:oncogenic:mutation sequence variation in gene RAC1/NCBI:5879 presence of not_specified sequence variation BB1867-1 not_mapped BB1868-1 532 1 1 RAD50 NCBI:10111 gene cancer MONDO:0004992 PubMed:24934408 RAD50 (L1237F) + ATM deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::(l1237f):+:atm:deletion sequence variation in gene RAD50/NCBI:10111 presence of not_specified sequence variation BB1868-1 not_mapped BB1870-1 534 1 1 RAF1 NCBI:5894 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:23737487 RAF1 (S257P,G361A,P261P) + BRAF oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::(s257p,g361a,p261p):+:braf:oncogenic:mutation sequence variation in gene RAF1/NCBI:5894 presence of not_specified sequence variation BB1870-1 not_mapped BB1871-1 535 1 1 RAF1 NCBI:5894 gene pediatric osteosarcoma MONDO:0002623 PubMed:24375110 RAF1 overexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased expression of gene RAF1/NCBI:5894 increased expression not_specified BB1871-1 not_mapped BB1872-1 536 1 1 RAF1 NCBI:5894 gene prostate adenocarcinoma MONDO:0005082 PubMed:20526349 RAF1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene RAF1/NCBI:5894 presence of not_specified sequence variation BB1872-1 not_mapped BB1873-1 537 1 1 RB1 NCBI:5925 gene childhood bladder carcinoma MONDO:0022578 PubMed:26238431 RB1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene RB1/NCBI:5925 presence of not_specified sequence variation BB1873-1 not_mapped BB1873-2 538 1 1 RB1 NCBI:5925 gene retinoblastoma MONDO:0008380 PubMed:18483379 RB1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene RB1/NCBI:5925 presence of not_specified sequence variation BB1873-2 not_mapped BB1873-2 538 1 1 RB1 NCBI:5925 gene retinoblastoma MONDO:0008380 PubMed:17080083 RB1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene RB1/NCBI:5925 presence of not_specified sequence variation BB1873-2 not_mapped BB1874-1 539 1 1 RB1 NCBI:5925 gene childhood bladder carcinoma MONDO:0022578 PubMed:26238431 RB1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene RB1/NCBI:5925 presence of not_specified sequence variation BB1874-1 not_mapped BB1874-2 540 1 1 RB1 NCBI:5925 gene retinoblastoma MONDO:0008380 PubMed:18483379 RB1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene RB1/NCBI:5925 presence of not_specified sequence variation BB1874-2 not_mapped BB1874-2 540 1 1 RB1 NCBI:5925 gene retinoblastoma MONDO:0008380 PubMed:17080083 RB1 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene RB1/NCBI:5925 presence of not_specified sequence variation BB1874-2 not_mapped AN5688-2 541 1 1 RB1 NCBI:5925 gene prostate adenocarcinoma MONDO:0005082 PubMed:23708653 RB1 overexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased expression of gene RB1/NCBI:5925 increased expression not_specified AN5688-2 not_mapped BB1875-1 542 1 1 RET NCBI:5979 gene thyroid cancer MONDO:0002108 PubMed:21470995 RET:C634W assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::C634W sequence variation in gene RET/NCBI:5979 presence of not_specified sequence variation BB1875-1 not_mapped BB1875-1 542 1 1 RET NCBI:5979 gene thyroid cancer MONDO:0002108 PubMed:23056499 RET:C634W assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::C634W sequence variation in gene RET/NCBI:5979 presence of not_specified sequence variation BB1875-1 not_mapped BB1876-1 543 1 1 RET NCBI:5979 gene lung adenocarcinoma MONDO:0005061 PubMed:28615362 RET:I788N assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::I788N sequence variation in gene RET/NCBI:5979 presence of not_specified sequence variation BB1876-1 not_mapped AN5695-5 544 1 1 RET NCBI:5979 gene lung adenocarcinoma MONDO:0005061 PubMed:28447912 RET fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene RET/NCBI:5979 presence of not_specified sequence variation AN5695-5 not_mapped AN5695-5 544 1 1 RET NCBI:5979 gene lung adenocarcinoma MONDO:0005061 PubMed:26787234 RET fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene RET/NCBI:5979 presence of not_specified sequence variation AN5695-5 not_mapped AN5695-5 544 1 1 RET NCBI:5979 gene lung adenocarcinoma MONDO:0005061 PubMed:22327624 RET fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene RET/NCBI:5979 presence of not_specified sequence variation AN5695-5 not_mapped BB1877-1 545 1 1 RET NCBI:5979 gene thyroid cancer MONDO:0002108 PubMed:23056499 RET-TPCN1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::ret-tpcn1:fusion sequence variation in gene RET/NCBI:5979 presence of not_specified sequence variation BB1877-1 not_mapped AN5702-3 546 1 1 RICTOR NCBI:253260 gene lung cancer MONDO:0008903 PubMed:26370156 RICTOR amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene RICTOR/NCBI:253260 increased level not_specified AN5702-3 not_mapped BB1879-1 548 1 1 ROS1 NCBI:6098 gene lung adenocarcinoma MONDO:0005061 PubMed:23724914 ROS1:G2032R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::g2032r sequence variation in gene ROS1/NCBI:6098 presence of not_specified sequence variation BB1879-1 not_mapped BB1879-1 548 1 1 ROS1 NCBI:6098 gene lung adenocarcinoma MONDO:0005061 PubMed:25351743 ROS1:G2032R assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::g2032r sequence variation in gene ROS1/NCBI:6098 presence of not_specified sequence variation BB1879-1 not_mapped BB1880-1 549 1 1 ROS1 NCBI:6098 gene lung adenocarcinoma MONDO:0005061 PubMed:27401242 ROS1:S1986Y assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::S1986Y sequence variation in gene ROS1/NCBI:6098 presence of not_specified sequence variation BB1880-1 not_mapped AN5710-3 551 1 1 ROS1 NCBI:6098 gene lung adenocarcinoma MONDO:0005061 PubMed:27370605 ROS1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ROS1/NCBI:6098 presence of not_specified sequence variation AN5710-3 not_mapped AN5710-3 551 1 1 ROS1 NCBI:6098 gene lung adenocarcinoma MONDO:0005061 PubMed:25264305 ROS1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ROS1/NCBI:6098 presence of not_specified sequence variation AN5710-3 not_mapped AN5710-3 551 1 1 ROS1 NCBI:6098 gene lung adenocarcinoma MONDO:0005061 PubMed:23533265 ROS1 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene ROS1/NCBI:6098 presence of not_specified sequence variation AN5710-3 not_mapped BB1881-1 552 1 1 SERPINB3 NCBI:6317 gene cutaneous melanoma (disease) MONDO:0005012 PubMed:27668655 SERPINB3 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene SERPINB3/NCBI:6317 presence of not_specified sequence variation BB1881-1 not_mapped BB1885-1 556 1 1 SLC29A1 NCBI:2030 gene childhood bladder carcinoma MONDO:0022578 PubMed:21166756 SLC29A1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene SLC29A1/NCBI:2030 presence of not_specified sequence variation BB1885-1 not_mapped BB1886-1 557 1 1 SLC44A4 NCBI:80736 gene Prostate adenocarcinoma;Pancreas adenocarcinoma MONDO:0005082 PubMed:27550944 SLC44A4 overexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased expression of gene SLC44A4/NCBI:80736 increased expression not_specified BB1886-1 not_mapped BB1887-1 558 1 1 SMARCA1 NCBI:6594 gene cancer MONDO:0004992 PubMed:26552009 SMARCA1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene SMARCA1/NCBI:6594 presence of not_specified sequence variation BB1887-1 not_mapped BB1890-1 561 1 1 SMARCB1 NCBI:6598 gene rhabdoid tumor MONDO:0002728 PubMed:26920892 SMARCB1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene SMARCB1/NCBI:6598 presence of not_specified sequence variation BB1890-1 not_mapped BB1891-1 563 1 1 SMO NCBI:6608 gene medulloblastoma MONDO:0007959 PubMed:19726788 SMO:D473H assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D473H sequence variation in gene SMO/NCBI:6608 presence of not_specified sequence variation BB1891-1 not_mapped BB1891-2 564 1 1 SMO NCBI:6608 gene skin basal cell carcinoma MONDO:0005341 PubMed:25759020 SMO:D473H assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::D473H sequence variation in gene SMO/NCBI:6608 presence of not_specified sequence variation BB1891-2 not_mapped BB1893-1 566 1 1 SRSF2 NCBI:6427 gene acute myeloid leukemia MONDO:0018874 PubMed:27135740 SRSF2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene SRSF2/NCBI:6427 presence of not_specified sequence variation BB1893-1 not_mapped BB1894-1 567 1 1 STAG2 NCBI:10735 gene malignant glioma MONDO:0015917 PubMed:24356817 STAG2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene STAG2/NCBI:10735 presence of not_specified sequence variation BB1894-1 not_mapped BB1895-1 568 1 1 STK11 NCBI:6794 gene lung cancer MONDO:0008903 PubMed:23129625 STK11 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1895-1 not_mapped BB1895-2 569 1 1 STK11 NCBI:6794 gene lung adenocarcinoma MONDO:0005061 PubMed:23352126 STK11 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1895-2 not_mapped BB1895-2 569 1 1 STK11 NCBI:6794 gene lung adenocarcinoma MONDO:0005061 PubMed:19165201 STK11 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1895-2 not_mapped BB1895-3 570 1 1 STK11 NCBI:6794 gene cancer MONDO:0004992 PubMed:19541609 STK11 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1895-3 not_mapped BB1895-2 569 1 1 STK11 NCBI:6794 gene lung adenocarcinoma MONDO:0005061 PubMed:20541700 STK11 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1895-2 not_mapped BB1896-1 571 1 1 STK11 NCBI:6794 gene lung adenocarcinoma MONDO:0005061 PubMed:22425996 STK11 oncogenic mutation + KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation:+:kras:oncogenic:mutation sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1896-1 not_mapped BB1897-1 572 1 1 STK11 NCBI:6794 gene exocrine pancreatic carcinoma MONDO:0005192 PubMed:21189378 STK11:D194E assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::d194e sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1897-1 not_mapped BB1898-1 573 1 1 STK11 NCBI:6794 gene lung adenocarcinoma MONDO:0005061 PubMed:23352126 STK11 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1898-1 not_mapped BB1898-1 573 1 1 STK11 NCBI:6794 gene lung adenocarcinoma MONDO:0005061 PubMed:19165201 STK11 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1898-1 not_mapped BB1898-2 574 1 1 STK11 NCBI:6794 gene cancer MONDO:0004992 PubMed:19541609 STK11 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1898-2 not_mapped BB1898-1 573 1 1 STK11 NCBI:6794 gene lung adenocarcinoma MONDO:0005061 PubMed:20541700 STK11 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1898-1 not_mapped BB1899-1 575 1 1 STK11 NCBI:6794 gene lung adenocarcinoma MONDO:0005061 PubMed:22425996 STK11 deletion + KRAS oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion:+:kras:oncogenic:mutation sequence variation in gene STK11/NCBI:6794 presence of not_specified sequence variation BB1899-1 not_mapped BB1900-1 576 1 1 SUZ12 NCBI:23512 gene cancer MONDO:0004992 PubMed:25119042 SUZ12 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene SUZ12/NCBI:23512 presence of not_specified sequence variation BB1900-1 not_mapped BB1901-1 577 1 1 SUZ12 NCBI:23512 gene cancer MONDO:0004992 PubMed:25119042 SUZ12 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene SUZ12/NCBI:23512 presence of not_specified sequence variation BB1901-1 not_mapped BB1902-1 578 1 1 SYK NCBI:6850 gene Mantle cell lymphoma;Chronic lymphocytic leukemia MONDO:0018876 PubMed:16409295 SYK amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene SYK/NCBI:6850 increased level not_specified BB1902-1 not_mapped BB1903-1 579 1 1 TERT NCBI:7015 gene glioma susceptibility 1 MONDO:0024498 PubMed:25375122 TERT promoters core assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition TERT promoters core [biomarker_term_in_review] not_specified not_specified not_specified BB1903-1 not_mapped BB1904-1 580 1 1 TMPRSS2 NCBI:7113 gene prostate adenocarcinoma MONDO:0005082 PubMed:21575865 TMPRSS2 fusion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::fusion sequence variation in gene TMPRSS2/NCBI:7113 presence of not_specified sequence variation BB1904-1 not_mapped BB1905-1 581 1 1 TOP2A NCBI:7153 gene breast adenocarcinoma MONDO:0004988 PubMed:22864769 TOP2A amplification assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased level of gene TOP2A/NCBI:7153 increased level not_specified BB1905-1 not_mapped BB1906-1 582 1 1 TP53 NCBI:7157 gene breast adenocarcinoma MONDO:0004988 PubMed:27217383 TP53 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TP53/NCBI:7157 presence of not_specified sequence variation BB1906-1 not_mapped BB1906-2 583 1 1 TP53 NCBI:7157 gene liposarcoma MONDO:0005060 PubMed:23084521 TP53 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TP53/NCBI:7157 presence of not_specified sequence variation BB1906-2 not_mapped BB1906-3 584 1 1 TP53 NCBI:7157 gene ovarian cancer MONDO:0008170 PubMed:27998224 TP53 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TP53/NCBI:7157 presence of not_specified sequence variation BB1906-3 not_mapped BB1906-4 585 1 1 TP53 NCBI:7157 gene Acute myeloid leukemia;Myelodisplasic proliferative syndrome MONDO:0018874 PubMed:27959731 TP53 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TP53/NCBI:7157 presence of not_specified sequence variation BB1906-4 not_mapped BB1906-5 586 1 1 TP53 NCBI:7157 gene childhood bladder carcinoma MONDO:0022578 PubMed:27397505 TP53 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TP53/NCBI:7157 presence of not_specified sequence variation BB1906-5 not_mapped BB1907-1 588 1 1 TP53 NCBI:7157 gene cancer MONDO:0004992 PubMed:26009011 TP53:R248Q assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::r248q sequence variation in gene TP53/NCBI:7157 presence of not_specified sequence variation BB1907-1 not_mapped BB1911-2 593 1 1 TSC1 NCBI:7248 gene Sarcoma;Stomach MONDO:0005089 PubMed:26859683 TSC1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TSC1/NCBI:7248 presence of not_specified sequence variation BB1911-2 not_mapped BB1911-3 594 1 1 TSC1 NCBI:7248 gene childhood bladder carcinoma MONDO:0022578 PubMed:22923433 TSC1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TSC1/NCBI:7248 presence of not_specified sequence variation BB1911-3 not_mapped BB1911-1 592 1 1 TSC1 NCBI:7248 gene kidney angiomyolipoma MONDO:0004555 PubMed:23312829 TSC1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TSC1/NCBI:7248 presence of not_specified sequence variation BB1911-1 not_mapped BB1912-2 596 1 1 TSC2 NCBI:7249 gene childhood bladder carcinoma MONDO:0022578 PubMed:22923433 TSC2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TSC2/NCBI:7249 presence of not_specified sequence variation BB1912-2 not_mapped BB1912-1 595 1 1 TSC2 NCBI:7249 gene kidney angiomyolipoma MONDO:0004555 PubMed:23312829 TSC2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TSC2/NCBI:7249 presence of not_specified sequence variation BB1912-1 not_mapped BB1912-3 597 1 1 TSC2 NCBI:7249 gene lymphangioleiomyomatosis MONDO:0011705 PubMed:24691995 TSC2 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene TSC2/NCBI:7249 presence of not_specified sequence variation BB1912-3 not_mapped BB1913-1 598 1 1 TSC2 NCBI:7249 gene endometrial cancer MONDO:0011962 PubMed:27016228 TSC2:E66K assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_I::E66K sequence variation in gene TSC2/NCBI:7249 presence of not_specified sequence variation BB1913-1 not_mapped BB1914-1 599 1 1 TSC2 NCBI:7249 gene lymphangioleiomyomatosis MONDO:0011705 PubMed:24691995 TSC2 deletion assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::deletion sequence variation in gene TSC2/NCBI:7249 presence of not_specified sequence variation BB1914-1 not_mapped BB1915-1 600 1 1 TUBB3 NCBI:10381 gene childhood bladder carcinoma MONDO:0022578 PubMed:23184177 TUBB3 overexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Increased expression of gene TUBB3/NCBI:10381 increased expression not_specified BB1915-1 not_mapped BB1916-1 601 1 1 U2AF1 NCBI:7307 gene cancer MONDO:0004992 PubMed:27397505 U2AF1 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene U2AF1/NCBI:7307 presence of not_specified sequence variation BB1916-1 not_mapped BB1919-1 604 1 1 ZBTB16 NCBI:7704 gene prostate adenocarcinoma MONDO:0005082 PubMed:16637071 ZBTB16 undexpression assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition ZBTB16 undexpression [biomarker_term_in_review] not_specified not_specified not_specified BB1919-1 not_mapped BB1920-1 605 1 1 ZNRF3 NCBI:84133 gene colorectal adenocarcinoma MONDO:0005008 PubMed:26023187 ZNRF3 oncogenic mutation assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition Presence of bmkb_II::oncogenic:mutation sequence variation in gene ZNRF3/NCBI:84133 presence of not_specified sequence variation BB1920-1 not_mapped