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 POU4F3 5459 broad.mit.edu 37 5 145719616 145719616 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr5:145719616G>A uc003loa.2 + 1 715 c.626G>A c.(625-627)gGc>gAc p.G209D NM_002700 NP_002691 Q15319 PO4F3_HUMAN Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA. 209 POU-specific. sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGGACGTGGGCGCGGCTCTG 0.637000 6 73 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13737517 13737517 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr5:13737517G>A uc003jfd.2 - 65 11341 c.11299C>T c.(11299-11301)Cgc>Tgc p.R3767C DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3767 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R3767H(2)|p.R3767C(2) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTGTCAGGCGGTAAAGCAAG 0.428000 Kartagener syndrome 4 116 0 0 1 0 0 PANX1 24145 broad.mit.edu 37 11 93912962 93912962 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr11:93912962G>A uc001per.3 + 3 1125 c.740G>A c.(739-741)aGc>aAc p.S247N PANX1_uc001peq.3_Missense_Mutation_p.S247N NM_015368 NP_056183 Q96RD7 PANX1_HUMAN Homo sapiens pannexin 1 (PANX1), mRNA. 247 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTTGTGTGCAGCATCAAATCA 0.493000 3 118 0 0 1 0 0 TP53INP1 94241 broad.mit.edu 37 8 95952260 95952260 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr8:95952260G>A uc003yhg.3 - 2 685 c.301C>T c.(301-303)Ccc>Tcc p.P101S TP53INP1_uc003yhh.3_Missense_Mutation_p.P101S NM_033285 NP_150601 Q96A56 T53I1_HUMAN Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA. 101 apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) AAACATGGGGGTGGGGTGATA 0.463000 3 78 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84028118 84028118 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr11:84028118G>A uc021qof.1 - 0 265 c.71C>T c.(70-72)gCg>gTg p.A24V DLG2_uc001paj.2_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Intron|DLG2_uc001pal.1_Intron|DLG2_uc001pam.2_Missense_Mutation_p.A24V NM_001206769 NP_001193698 Q15700 DLG2_HUMAN Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 5, mRNA. 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CAGGGTGGGCGCACTCCTGAC 0.592000 9 380 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49854982 49854982 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chrX:49854982G>A uc004dor.1 + 12 2595 c.1954G>A c.(1954-1956)Gca>Aca p.A652T CLCN5_uc004doq.1_Missense_Mutation_p.A652T|CLCN5_uc004dos.1_Missense_Mutation_p.A582T|CLCN5_uc004dot.1_Missense_Mutation_p.A582T NM_001127899 NP_000075 P51795 CLCN5_HUMAN Homo sapiens chloride channel 5 (CLCN5), transcript variant 1, mRNA. 582 excretion Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane ATP binding|antiporter activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) TAAGACCCTGGCAATGGATGT 0.478000 20 60 0 0 1 0 0 CCDC142 84865 broad.mit.edu 37 2 74709264 74709264 + Missense_Mutation SNP C C T rs145805017 TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr2:74709264C>T uc002slr.3 - 0 1094 c.701G>A c.(700-702)cGt>cAt p.R234H TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Missense_Mutation_p.R234H|CCDC142_uc002slp.2_Missense_Mutation_p.R234H NM_032779 NP_116168 Q17RM4 CC142_HUMAN Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA. 234 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 GCGGAGCACACGGGACGTGGG 0.662000 3 63 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15514819 15514819 + Splice_Site SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr19:15514819G>A uc002naw.1 - 3 220 c.121_splice c.e3+1 p.G41_splice AKAP8L_uc002nax.1_Splice_Site|AKAP8L_uc010xoh.1_Splice_Site_p.G41_splice|AKAP8L_uc002nay.1_Splice_Site_p.G41_splice|AKAP8L_uc002naz.3_5'Flank NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA. 41 Gly/Tyr-rich. cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 AATGACACTTGCCTCTATTTG 0.498000 4 60 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683317 50683317 + Missense_Mutation SNP C C A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr6:50683317C>A uc003paf.3 + 1 1040 c.528C>A c.(526-528)gaC>gaA p.D176E TFAP2D_uc011dwt.2_Non-coding_Transcript NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA. 176 DNA binding|sequence-specific DNA binding transcription factor activity p.A175S(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CGGGAGCAGACGACTTGCAGG 0.597000 6 104 0 0 1 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32498905 32498905 + Silent SNP C C A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr1:32498905C>A uc001bub.3 + 3 847 c.741C>A c.(739-741)gcC>gcA p.A247A KHDRBS1_uc001bua.1_Silent_p.A208A|KHDRBS1_uc001buc.1_Non-coding_Transcript NM_006559 NP_006550 Q07666 KHDR1_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA. 247 G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGGCCCATGCCATGGAGGAAG 0.448000 3 65 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272349 52272349 + Silent SNP C C T TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr19:52272349C>T uc002pxr.3 + 1 483 c.438C>T c.(436-438)atC>atT p.I146I FPR2_uc002pxs.4_Silent_p.I146I|FPR2_uc010epf.3_Silent_p.I146I|FPR2_uc021uyp.1_Silent_p.I146I NM_001005738 NP_001453 P25090 FPR2_HUMAN Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA. 146 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TGAAGGTGATCGTCGGACCTT 0.478000 16 90 0 0 1 0 0 SGK196 84197 broad.mit.edu 37 8 42977872 42977872 + Missense_Mutation SNP T T C TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr8:42977872T>C uc003xpw.2 + 4 1164 c.905T>C c.(904-906)gTc>gCc p.V302A NM_032237 NP_115613 Q9H5K3 SG196_HUMAN Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA. 302 Protein kinase. integral to membrane ATP binding|protein kinase activity AGTGATATGGTCCGATTCCAT 0.478000 3 101 0 0 1 0 0 ADSS 159 broad.mit.edu 37 1 244582071 244582071 + Silent SNP C C T TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr1:244582071C>T uc001iaj.3 - 8 1253 c.936G>A c.(934-936)gaG>gaA p.E312E NM_001126 NP_001117 P30520 PURA2_HUMAN Homo sapiens adenylosuccinate synthase (ADSS), mRNA. 312 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) CATTGTCTTGCTCTGTAGGAA 0.338000 4 67 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16910932 16910932 + Missense_Mutation SNP T T C rs138963732 TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr19:16910932T>C uc002neu.4 + 16 4117 c.3695T>C c.(3694-3696)aTt>aCt p.I1232T NWD1_uc002net.4_Missense_Mutation_p.I1097T|NWD1_uc002nev.4_Missense_Mutation_p.I1026T|NWD1_uc021uqg.1_Missense_Mutation_p.I1097T NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1232 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTCCCCAAAATTGGGGACAAA 0.507000 35 87 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100532612 100532612 + Splice_Site SNP T T C TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr4:100532612T>C uc011cej.2 + 14 2083 c.2070_splice c.e14+2 p.Q690_splice MTTP_uc003hvc.4_Splice_Site_p.Q663_splice NM_000253 NP_000244 P55157 MTP_HUMAN Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA. 663 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GGTAGCCAGGTAACTCACTTC 0.398000 4 145 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60886790 60886790 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr11:60886790G>A uc009ynk.3 + 4 651 c.548G>A c.(547-549)gGt>gAt p.G183D NM_014207 NP_055022 P06127 CD5_HUMAN Homo sapiens CD5 molecule (CD5), mRNA. 183 SRCR 2. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) AGCCTGGGGGGTACCATCAGC 0.612000 5 108 0 0 1 0 0 MAP2K6 5608 broad.mit.edu 37 17 67515461 67515461 + Missense_Mutation SNP G G C TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr17:67515461G>C uc002jij.3 + 4 542 c.254G>C c.(253-255)cGa>cCa p.R85P MAP2K6_uc002jii.3_Missense_Mutation_p.R85P|MAP2K6_uc002jik.3_Missense_Mutation_p.R115P NM_002758 NP_002749 P52564 MP2K6_HUMAN Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA. 85 Protein kinase. DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) CAGCGGATCCGAGCCACAGTA 0.468000 31 85 0 0 1 0 0 WFDC3 140686 broad.mit.edu 37 20 44417689 44417689 + Missense_Mutation SNP C C G TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr20:44417689C>G uc002xpf.1 - 2 176 c.92G>C c.(91-93)gGa>gCa p.G31A DNTTIP1_uc002xpk.3_5'Flank|WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Intron NM_080614 NP_542181 Q8IUB2 WFDC3_HUMAN Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA. 31 WAP 1. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(3)|prostate(1) 5 Myeloproliferative disorder(115;0.0122) AGGGCATTCTCCCTCTTTTGC 0.517000 4 205 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75276498 75276498 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr14:75276498G>A uc001xqj.4 + 6 5061 c.4937G>A c.(4936-4938)cGa>cAa p.R1646Q YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.R129Q NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 1451 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GGCCATGGCCGAGGTGAGTAA 0.468000 3 55 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783712 54783712 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chrX:54783712G>A uc004dtj.2 - 7 2825 c.2795C>T c.(2794-2796)aCt>aTt p.T932I NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 932 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CAGAGTGGGAGTAAAGGGCAT 0.567000 3 69 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 30 84 0 0 1 0 0 MKRN1 23608 broad.mit.edu 37 7 140179061 140179061 + Frame_Shift_Del DEL G G - TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr7:140179061delG uc003vvt.2 - 0 309 c.84delC c.(82-84)cccfs p.P28fs MKRN1_uc011krd.1_5'UTR|MKRN1_uc003vvv.4_Frame_Shift_Del_p.P28fs|MKRN1_uc003vvu.4_5'UTR NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA. 28 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) GGATCGGGGTGGGGGAGgctg 0.701 2 4 --- --- --- ---