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 RP11-24M17.5 0 broad.mit.edu 37 15 76074441 76074441 + RNA SNP A A T TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr15:76074441A>T ENST00000395215.3 + 0 620 CGAGCTGCAGAGAAGCGGTCC 0.557000 3 42 0 0 1 0 0 HNRNPH3 3189 broad.mit.edu 37 10 70101423 70101423 + Missense_Mutation SNP G G A TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr10:70101423G>A ENST00000265866.7 + 8 1022 c.857G>A c.(856-858)gGa>gAa p.G286E HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G178E|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G271E NM_012207.2|NM_021644.3 NP_036339.1|NP_067676.2 P31942 HNRH3_HUMAN heterogeneous nuclear ribonucleoprotein H3 (2H9) 286 Gly-rich. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2) 11 GGAGGCTACGGAAGAGATGGA 0.368000 22 62 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48145257 48145257 + Silent SNP C C A TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr11:48145257C>A ENST00000418331.2 + 5 1061 c.709C>A c.(709-711)Cgg>Agg p.R237R PTPRJ_ENST00000440289.2_Silent_p.R237R NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 237 Fibronectin type-III 2. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity p.R237W(2) breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TGCCTCCTGCCGGGTTCTTCT 0.517000 3 72 0.150653 0.150653 1 1 0 DDX41 51428 broad.mit.edu 37 5 176943192 176943192 + Missense_Mutation SNP G G A TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr5:176943192G>A ENST00000507955.1 - 4 824 c.301C>T c.(301-303)Cgc>Tgc p.R101C DDX41_ENST00000506965.1_5'UTR NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 101 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GACTCTTTGCGCGCTGAGAAA 0.537000 22 161 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr17:47696432A>C ENST00000393331.3 - 7 861 c.391T>G c.(391-393)Tgg>Ggg p.W131G SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458000 Prostate(2;0.17) 55 99 0 0 1 0 0 PRAMEF19 645414 broad.mit.edu 37 1 13695960 13695960 + Silent SNP G G T TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr1:13695960G>T ENST00000540591.1 - 3 1051 c.1005C>A c.(1003-1005)atC>atA p.I335I PRAMEF19_ENST00000376101.2_Silent_p.I266I NM_001099790.1 NP_001093260.2 PRAME family member 19 lung(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTCAAGACGGATGAAGCGCA 0.517000 7 180 0.00448238 0.0046484 1 1 0 MED13 9969 broad.mit.edu 37 17 60112846 60112846 + Silent SNP T T C TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr17:60112846T>C ENST00000397786.2 - 4 670 c.594A>G c.(592-594)caA>caG p.Q198Q NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 198 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TATTAGACTGTTGAGCAAGGG 0.343000 10 71 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50119074 50119074 + RNA SNP G G A TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chrX:50119074G>A ENST00000376025.2 - 0 3421 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TGTCTTGGCCGTAAAATATAT 0.428000 3 29 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49693080 49693080 + Missense_Mutation SNP C C T TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr3:49693080C>T ENST00000296452.4 + 5 6205 c.6091C>T c.(6091-6093)Cgc>Tgc p.R2031C NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2031 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TGCGGATGGACGCTACCTAGG 0.602000 30 93 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11888182 11888182 + Missense_Mutation SNP C C T TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr1:11888182C>T ENST00000346436.6 + 11 912 c.860C>T c.(859-861)gCc>gTc p.A287V CLCN6_ENST00000376487.3_Missense_Mutation_p.A265V|CLCN6_ENST00000312413.6_Missense_Mutation_p.A287V|CLCN6_ENST00000376496.3_Missense_Mutation_p.A287V|CLCN6_ENST00000376492.3_3'UTR NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 287 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCCATGTCTGCCACCTTCACC 0.512000 10 270 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40465423 40465423 + Missense_Mutation SNP A A C TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr3:40465423A>C ENST00000301825.3 + 10 1440 c.1322A>C c.(1321-1323)gAg>gCg p.E441A ENTPD3_ENST00000456402.1_Missense_Mutation_p.E441A|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.E441A|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 441 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) TTCACAGAGGAGACTTGGCCC 0.418000 31 79 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62364966 62364966 + Missense_Mutation SNP A A G TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr20:62364966A>G ENST00000328969.5 + 4 873 c.746A>G c.(745-747)aAg>aGg p.K249R ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000369967.3_Missense_Mutation_p.K249R|ZGPAT_ENST00000448100.1_Missense_Mutation_p.K249R|ZGPAT_ENST00000357119.4_Missense_Mutation_p.K249R|ZGPAT_ENST00000355969.6_Missense_Mutation_p.K249R NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 249 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) TACACAGTCAAGTTTGACTCG 0.612000 132 195 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154544236 154544236 + Splice_Site SNP G G A TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr4:154544236G>A ENST00000409959.3 + 29 4094 c.e29+1 KIAA0922_ENST00000440693.1_Splice_Site|KIAA0922_ENST00000409663.3_Splice_Site NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CTGCCGGCCGGTGAGTCCTGA 0.672000 5 14 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 5 73 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38925341 38925341 + Missense_Mutation SNP G G C TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr17:38925341G>C ENST00000335552.4 - 6 1025 c.977C>G c.(976-978)tCc>tGc p.S326C NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 326 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) GCATTCATAGGAATGTTTCTG 0.363000 4 45 0 0 1 0 0 SNW1 22938 broad.mit.edu 37 14 78184773 78184773 + Missense_Mutation SNP G G C TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr14:78184773G>C ENST00000261531.7 - 13 1411 c.1349C>G c.(1348-1350)cCc>cGc p.P450R SNW1_ENST00000555761.1_Missense_Mutation_p.P450R|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.P288R|SLIRP_ENST00000557431.1_Intron NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 450 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) ATTTTTACTGGGCCTATAAAT 0.413000 27 48 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945409 16945409 + RNA SNP T T A rs13566 TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr1:16945409T>A ENST00000412962.1 - 0 2110 GCGGGATAGCTCGGTGGAGAG 0.612000 3 34 0 0 1 0 0 C2orf73 129852 broad.mit.edu 37 2 54587362 54587362 + Missense_Mutation SNP G G C TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr2:54587362G>C ENST00000398634.2 + 5 569 c.527G>C c.(526-528)aGa>aCa p.R176T C2orf73_ENST00000491538.1_3'UTR|C2orf73_ENST00000405749.1_Intron NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 176 breast(2) 2 TTTGTACAGAGAGAGATAAAA 0.448000 3 8 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2983155 2983155 + Missense_Mutation SNP G G A rs143720765 byFrequency TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr12:2983155G>A ENST00000342628.2 - 2 603 c.490C>T c.(490-492)Cgg>Tgg p.R164W FOXM1_ENST00000359843.3_Missense_Mutation_p.R164W|FOXM1_ENST00000361953.3_Missense_Mutation_p.R164W|FOXM1_ENST00000537018.1_5'UTR NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 164 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CAGGTCTCCCGTTTCTGCTCG 0.537000 24 42 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087137 9087137 + Missense_Mutation SNP C C T TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr19:9087137C>T ENST00000397910.4 - 1 4881 c.4678G>A c.(4678-4680)Gca>Aca p.A1560T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1560 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCATCGTTGCAGAAAGGGTG 0.498000 4 168 0 0 1 0 0 ITFG1 81533 broad.mit.edu 37 16 47196504 47196504 + Missense_Mutation SNP C C T TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr16:47196504C>T ENST00000320640.6 - 15 1753 c.1525G>A c.(1525-1527)Gca>Aca p.A509T RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 509 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) AGAAAATTTGCGCTCCGACCT 0.358000 4 110 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 3 24 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 6 10 --- --- --- --- MLK4 0 broad.mit.edu 37 1 233482217 233482219 + In_Frame_Del DEL GAC GAC - TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr1:233482217_233482219delGAC ENST00000366624.3 + 2 1096_1098 c.835_837delGAC c.(835-837)del p.D279del MLK4_ENST00000366623.3_In_Frame_Del_p.D279del NM_032435.2 NP_115811.2 AGAACATGATGACATCTGCAATA 0.394 19 40 --- --- --- --- FER1L5 90342 broad.mit.edu 37 2 97364482 97364483 + RNA DEL AG AG - TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr2:97364482_97364483delAG ENST00000457909.1 + 0 3934_3935 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 TGGTTTGGCCAGAGAGAGAGGA 0.604 2 4 --- --- --- --- NCKIPSD 51517 broad.mit.edu 37 3 48711990 48711991 + Frame_Shift_Ins INS - - C TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr3:48711990_48711991insC ENST00000294129.2 - 13 2274_2275 c.2155_2156insG c.(2155-2157)ggcfs p.G719fs NCKIPSD_ENST00000341520.4_Intron|NCKIPSD_ENST00000416649.2_Frame_Shift_Ins_p.G712fs NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 719 cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCTGGGAGCCTCCCCCAGCACC 0.579 2 4 --- --- --- --- LINC00882 0 broad.mit.edu 37 3 106824710 106824710 + RNA DEL T T - rs139188639 TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr3:106824710delT ENST00000484698.1 - 0 295 tttttatatcttttttttttt 0.448 2 4 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103901076 103901077 + Frame_Shift_Ins INS - - C TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr10:103901076_103901077insC ENST00000278070.2 + 5 2850_2851 c.2811_2812insC c.(2809-2814)ctccccfs p.LP937fs PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 937 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ATCCTTGCCTGCCCCCCCCACC 0.604 16 42 --- --- --- --- ARL2BPP3 0 broad.mit.edu 37 13 37368677 37368677 + RNA DEL T T - TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr13:37368677delT ENST00000580773.1 + 0 271 CTGATGCACATTTTGATGCTG 0.458 2 4 --- --- --- --- IGHV4OR15-8 0 broad.mit.edu 37 15 22473095 22473096 + RNA INS - - G TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr15:22473095_22473096insG ENST00000557788.2 - 0 174_175 CCCTGGGGGCTGGCGGACCCAG 0.594 7 162 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42035324 42035325 + Frame_Shift_Del DEL TA TA - TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfdee3c3-dfff-4ca8-9750-946c41e688ee 37744749-dd3a-43dc-b690-4270748f7885 g.chr15:42035324_42035325delTA ENST00000219905.7 + 15 5347_5348 c.5166_5167delTA c.(5164-5169)attafs p.II1722fs MGA_ENST00000570161.1_Frame_Shift_Del_p.II1722fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.II1722fs|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1722 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTGTTCCTATTATACTCTCAGG 0.465 8 15 --- --- --- ---