Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ZNF280C 55609 broad.mit.edu 37 X 129354452 129354452 + Missense_Mutation SNP T T A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chrX:129354452T>A ENST00000370978.4 - 13 1551 c.1398A>T c.(1396-1398)aaA>aaT p.K466N NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 GAACTCCTTTTTTCTGTTTAC 0.343000 25 39 0 0 0.041601 0 0 ZNF208 7757 broad.mit.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr19:22155896A>C ENST00000397126.4 - 4 2088 c.1940T>G c.(1939-1941)aTt>aGt p.I647S ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAGACCTTAATAAAGGTTTT 0.398000 4 103 0 0 0.009096 0 0 PCDHGC4 0 broad.mit.edu 37 5 140866043 140866043 + Missense_Mutation SNP C C T TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr5:140866043C>T ENST00000306593.1 + 1 1303 c.1303C>T c.(1303-1305)Ctc>Ttc p.L435F PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACCCTCCTCTCAGTACCCA 0.468000 26 46 0 0 0.054565 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513029 106513029 + Silent SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr7:106513029G>A ENST00000359195.3 + 3 2353 c.2043G>A c.(2041-2043)ctG>ctA p.L681L PIK3CG_ENST00000440650.2_Silent_p.L681L|PIK3CG_ENST00000496166.1_Silent_p.L681L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 681 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CCAGATTTCTGCTGAAGCGTG 0.378000 10 151 0 0 0.020292 0 0 BMP5 653 broad.mit.edu 37 6 55739439 55739439 + Silent SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr6:55739439G>A ENST00000370830.3 - 1 923 c.225C>T c.(223-225)tcC>tcT p.S75S BMP5_ENST00000446683.2_Silent_p.S75S NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 75 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GAGGTGCAGAGGACGCTTGTT 0.468000 4 123 0 0 0.021553 0 0 CD44 960 broad.mit.edu 37 11 35201882 35201882 + Missense_Mutation SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr11:35201882G>A ENST00000263398.6 + 3 729 c.295G>A c.(295-297)Gca>Aca p.A99T CD44_ENST00000449691.2_Missense_Mutation_p.A99T|CD44_ENST00000434472.2_Missense_Mutation_p.A99T|CD44_ENST00000415148.2_Missense_Mutation_p.A99T|CD44_ENST00000352818.4_Missense_Mutation_p.A99T|CD44_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Missense_Mutation_p.A99T|CD44_ENST00000428726.2_Missense_Mutation_p.A99T|CD44_ENST00000526669.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.A99T|CD44_ENST00000360158.4_Missense_Mutation_p.A99T|CD44_ENST00000433354.2_Missense_Mutation_p.A99T NM_001001391.1|NM_001202555.1|NM_001202556.1 NP_001001391.1|NP_001189484.1|NP_001189485.1 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 99 Link. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) CATCTGTGCAGCAAACAACAC 0.493000 3 73 0 0 0.009096 0 0 TCL1B 9623 broad.mit.edu 37 14 96157184 96157184 + Missense_Mutation SNP C C G TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr14:96157184C>G ENST00000340722.7 + 2 325 c.274C>G c.(274-276)Ccc>Gcc p.P92A RP11-1070N10.6_ENST00000461160.1_RNA NM_004918.3 NP_004909.1 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 92 cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GCAGCTCTACCCCGGGAGGAA 0.607000 3 100 0 0 0.004672 0 0 FILIP1L 11259 broad.mit.edu 37 3 99567862 99567862 + Silent SNP A A G TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr3:99567862A>G ENST00000331335.5 - 5 3128 c.2658T>C c.(2656-2658)ttT>ttC p.F886F FILIP1L_ENST00000487087.1_Silent_p.F462F|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.F886F|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Silent_p.F646F|FILIP1L_ENST00000471562.1_Silent_p.F646F|FILIP1L_ENST00000476723.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 886 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CAGGTTGCACAAAGTTGGCAT 0.448000 9 211 0 0 0.105934 0 0 CHST5 23563 broad.mit.edu 37 16 75563706 75563706 + Missense_Mutation SNP C C T TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr16:75563706C>T ENST00000336257.3 - 3 1971 c.577G>A c.(577-579)Gtg>Atg p.V193M CHST5_ENST00000541075.1_Missense_Mutation_p.V199M|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 193 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 TTGAGCACCACGTGGCTGTAG 0.657000 63 117 0 0 0.048971 0 0 ATP6V0E1 8992 broad.mit.edu 37 5 172410879 172410879 + Missense_Mutation SNP C C G TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr5:172410879C>G ENST00000519374.1 + 1 120 c.16C>G c.(16-18)Ctc>Gtc p.L6V ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.L6V NM_003945.3 NP_003936.1 O15342 VA0E1_HUMAN ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 6 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole proton-transporting ATPase activity, rotational mechanism lung(2) 2 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTATCACGGCCTCACTGTGCC 0.612000 7 256 0 0 0.069234 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 64 0 0 0.004672 0 0 HLX 3142 broad.mit.edu 37 1 221057861 221057861 + Missense_Mutation SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr1:221057861G>A ENST00000366903.6 + 4 2783 c.1282G>A c.(1282-1284)Ggc>Agc p.G428S HLX_ENST00000549319.1_Missense_Mutation_p.G214S NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 428 Ser-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G431delG(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) tgggagcagcggcggcggcgg 0.642000 3 19 0 0 0.004672 0 0 CDC5L 988 broad.mit.edu 37 6 44387276 44387276 + Missense_Mutation SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr6:44387276G>A ENST00000371477.3 + 9 1482 c.1183G>A c.(1183-1185)Gta>Ata p.V395I NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 395 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTTCTCAGGTGTAACTCCACA 0.423000 4 98 0 0 0.014758 0 0 ENPEP 2028 broad.mit.edu 37 4 111434635 111434635 + Missense_Mutation SNP A A T TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr4:111434635A>T ENST00000265162.5 + 7 1715 c.1373A>T c.(1372-1374)cAt>cTt p.H458L RP11-380D23.1_ENST00000503998.1_RNA NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 458 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ATGTCTTCGCATCCAATTATT 0.353000 63 75 0 0 0.048971 0 0 SDC4 6385 broad.mit.edu 37 20 43959044 43959044 + Missense_Mutation SNP T T C TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr20:43959044T>C ENST00000372733.3 - 4 446 c.407A>G c.(406-408)cAg>cGg p.Q136R SDC4_ENST00000537976.1_Missense_Mutation_p.Q64R NM_002999.3 NP_002990.2 P31431 SDC4_HUMAN syndecan 4 136 extracellular region|integral to plasma membrane cytoskeletal protein binding|thrombospondin receptor activity SDC4/ROS1(7) NS(1)|breast(1)|endometrium(1)|large_intestine(2) 5 Myeloproliferative disorder(115;0.0122) GTTGCTGCCCTGCACAGTGCT 0.527000 T ROS1 NSCLC 41 66 0 0 0.048971 0 0 RP11-566K19.6 0 broad.mit.edu 37 15 23108883 23108883 + RNA SNP T T C rs3178813 by1000genomes TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr15:23108883T>C ENST00000557922.1 - 0 246 NR_040057.1 TTCGACACTATCATCTGCAGA 0.378000 3 41 0 0 0.004672 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 29 49 0 0 0.050027 0 0 BARHL2 343472 broad.mit.edu 37 1 91182584 91182584 + Missense_Mutation SNP T T C TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr1:91182584T>C ENST00000370445.4 - 1 210 c.169A>G c.(169-171)Acc>Gcc p.T57A NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 57 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GTCCCTACGGTATCAATCTCC 0.607000 3 106 0 0 0.009096 0 0 MAST2 23139 broad.mit.edu 37 1 46498015 46498015 + Missense_Mutation SNP T T C TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr1:46498015T>C ENST00000361297.2 + 25 3636 c.3353T>C c.(3352-3354)cTg>cCg p.L1118P MAST2_ENST00000372009.2_Missense_Mutation_p.L1025P|MAST2_ENST00000372008.1_Intron NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1118 PDZ. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GGCTTCACCCTGCGGGCCATT 0.577000 4 87 0 0 0.021553 0 0 DYRK4 8798 broad.mit.edu 37 12 4705796 4705796 + Missense_Mutation SNP C C G TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr12:4705796C>G ENST00000540757.2 + 6 621 c.461C>G c.(460-462)gCt>gGt p.A154G DYRK4_ENST00000543431.1_Missense_Mutation_p.A154G|DYRK4_ENST00000010132.5_Missense_Mutation_p.A154G NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 154 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) ATCCTGGAAGCTCTCAGAAAG 0.498000 5 13 0 0 0.014758 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745690 37745690 + Missense_Mutation SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr9:37745690G>A ENST00000539465.1 + 16 4254 c.3661G>A c.(3661-3663)Gtc>Atc p.V1221I RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.V1221I Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1221 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TTCACCAGCCGTCCCTCCAGA 0.527000 4 124 0 0 0.029380 0 0 AC010745.2 0 broad.mit.edu 37 2 16409482 16409483 + RNA INS - - C rs142105920 by1000genomes TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr2:16409482_16409483insC ENST00000420404.1 + 0 289 TCCTTCCTGGGaccccgccccg 0.604 2 4 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160143939 160143940 + Frame_Shift_Ins INS - - A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr3:160143939_160143940insA ENST00000357388.3 + 17 3007_3008 c.2556_2557insA c.(2554-2559)gaaaaafs p.EK852fs SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs|RP11-432B6.3_ENST00000483754.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 852 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CAGCCCCTGACAAAAAAAAGCA 0.322 8 251 --- --- --- --- NRG2 9542 broad.mit.edu 37 5 139422565 139422567 + In_Frame_Del DEL GCT GCT - TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr5:139422565_139422567delGCT ENST00000541337.1 - 1 317_319 c.88_90delAGC c.(88-90)del p.S30del NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000394770.1_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del|NRG2_ENST00000361474.1_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 30 Poly-Ser. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tgctcctctcgctgctgctgctg 0.675 2 4 --- --- --- --- SLC39A4 55630 broad.mit.edu 37 8 145639747 145639747 + Frame_Shift_Del DEL A A - TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr8:145639747delA ENST00000276833.5 - 5 1276 c.973delT c.(973-975)gcfs p.C325fs SLC39A4_ENST00000301305.3_Frame_Shift_Del_p.C350fs NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 350 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CAGCCAGTGCAGGTCAGCAGC 0.657 2 4 --- --- --- --- RP11-125B21.2 0 broad.mit.edu 37 9 2479904 2479906 + RNA DEL GAG GAG - TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr9:2479904_2479906delGAG ENST00000416826.2 - 0 1214 ggaggaggacgaggaggaggagg 0.448 3 5 --- --- --- --- RP11-107I14.4 0 broad.mit.edu 37 10 103022524 103022524 + RNA DEL C C - TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr10:103022524delC ENST00000422661.1 - 0 376 LBX1-AS1_ENST00000434878.1_RNA GACTCCCCTGCCCCCCCAGTC 0.483 2 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 4 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962224 131962225 + RNA INS - - ATA rs67902503 TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr12:131962224_131962225insATA ENST00000535133.1 - 0 195 tggtaatggtggtgatgatggt 0.396 2 4 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45754043 45754044 + RNA INS - - CAC TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr15:45754043_45754044insCAC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA atcaccaccatcaccaccacca 0.554 5 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11058732 11058733 + RNA DEL TT TT - rs140338160 TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr21:11058732_11058733delTT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATATTACTATTTTTTACCCTG 0.257 2 4 --- --- --- ---