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 NBPF20 100288142 broad.mit.edu 37 1 148344686 148344686 + Missense_Mutation SNP T T C TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr1:148344686T>C ENST00000369202.1 - 3 429 c.232A>G c.(232-234)Aag>Gag p.K78E NBPF20_ENST00000414710.2_Missense_Mutation_p.K78E neuroblastoma breakpoint family, member 20 breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 TTCTCCTCCTTGAACTGTCGC 0.522000 28 719 0 0 1 0 0 FGF11 2256 broad.mit.edu 37 17 7346396 7346396 + Splice_Site SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr17:7346396G>A ENST00000293829.4 + 5 1203 c.607_splice c.e5-1 p.V203_splice FGF11_ENST00000572907.1_Splice_Site_p.V79_splice|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575331.1_3'UTR|FGF11_ENST00000575235.1_Splice_Site_p.V79_splice|FGF11_ENST00000575398.1_Splice_Site_p.V79_splice|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575082.1_Splice_Site_p.V79_splice NM_004112.2 NP_004103.1 Q92914 FGF11_HUMAN fibroblast growth factor 11 203 cell-cell signaling|nervous system development|signal transduction growth factor activity central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1) 6 Prostate(122;0.157) CCTTCACAGTGGCCATGTACC 0.597000 14 17 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7848318 7848318 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr12:7848318G>A ENST00000329913.3 - 1 54 c.7C>T c.(7-9)Cgt>Tgt p.R3C NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 3 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGCAAGAAACGAAGCATGGCC 0.468000 9 26 0 0 1 0 0 ZNF76 7629 broad.mit.edu 37 6 35262323 35262323 + Missense_Mutation SNP A A C TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr6:35262323A>C ENST00000373953.3 + 13 1851 c.1585A>C c.(1585-1587)Aac>Cac p.N529H ZNF76_ENST00000440666.2_Missense_Mutation_p.N503H|ZNF76_ENST00000339411.5_Missense_Mutation_p.N474H NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 529 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 GGCCACAGCCAACGGAACGCA 0.517000 OREG0017373 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 25 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096475 73096475 + Silent SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr17:73096475C>T ENST00000450736.2 + 4 1132 c.717C>T c.(715-717)tgC>tgT p.C239C SLC16A5_ENST00000538213.2_Silent_p.C279C|SLC16A5_ENST00000580123.1_Silent_p.C239C|SLC16A5_ENST00000329783.4_Silent_p.C239C O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 239 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) CAGGCTACTGCGTGTACATAC 0.627000 28 18 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72343909 72343909 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr18:72343909G>A ENST00000299687.5 + 1 934 c.934G>A c.(934-936)Gca>Aca p.A312T ZNF407_ENST00000577538.1_Missense_Mutation_p.A312T|ZNF407_ENST00000309902.6_Missense_Mutation_p.A312T|ZNF407_ENST00000582337.1_Missense_Mutation_p.A312T NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TAAATCAATAGCAAAGAATAG 0.333000 45 44 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238048505 238048505 + Missense_Mutation SNP A A T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr1:238048505A>T ENST00000366570.4 - 9 1429 c.1271T>A c.(1270-1272)tTt>tAt p.F424Y RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 424 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGGGTTCACAAAGCTGAAGGT 0.527000 6 55 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45392063 45392063 + Missense_Mutation SNP T T A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr15:45392063T>A ENST00000389039.6 - 25 3597 c.3212A>T c.(3211-3213)gAc>gTc p.D1071V DUOX2_ENST00000603300.1_Missense_Mutation_p.D1071V Q9NRD8 DUOX2_HUMAN dual oxidase 2 1071 Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTGTGCAATGTCCGAGGGTGG 0.607000 8 24 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33702228 33702228 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr19:33702228C>T ENST00000253188.3 - 7 1065 c.919G>A c.(919-921)Ggg>Agg p.G307R NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 307 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) AGCTTCTCCCCGAAGGTCTGG 0.622000 9 90 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33513437 33513437 + Missense_Mutation SNP G G C TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr17:33513437G>C ENST00000268876.5 + 20 2752 c.2655G>C c.(2653-2655)aaG>aaC p.K885N UNC45B_ENST00000591048.1_Missense_Mutation_p.K804N|UNC45B_ENST00000378449.1_Missense_Mutation_p.K804N|UNC45B_ENST00000433649.1_Missense_Mutation_p.K883N|UNC45B_ENST00000394570.2_Missense_Mutation_p.K883N NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 885 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TGGCCAAGAAGCTGGTGGAGA 0.582000 14 17 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156814525 156814525 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr1:156814525C>T ENST00000368195.3 - 13 2944 c.2548G>A c.(2548-2550)Gaa>Aaa p.E850K NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 850 Fibronectin type-III 3. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TACTTGATTTCGTACTTGAGG 0.607000 6 105 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 44997569 44997569 + Silent SNP A A G TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr20:44997569A>G ENST00000372176.1 - 21 2127 c.1659T>C c.(1657-1659)ccT>ccC p.P553P ELMO2_ENST00000290246.6_Silent_p.P641P|ELMO2_ENST00000454865.2_Silent_p.P373P|ELMO2_ENST00000352077.2_Silent_p.P639P|ELMO2_ENST00000396391.1_Silent_p.P641P|ELMO2_ENST00000439931.2_Silent_p.P653P|ELMO2_ENST00000445496.2_Silent_p.P458P Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 641 PH. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) AGGTCTCATCAGGGTCATACA 0.468000 4 174 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114189210 114189210 + Missense_Mutation SNP A A G TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr1:114189210A>G ENST00000369615.1 + 12 2163 c.2101A>G c.(2101-2103)Aaa>Gaa p.K701E MAGI3_ENST00000307546.9_Missense_Mutation_p.K701E|MAGI3_ENST00000369611.4_Missense_Mutation_p.K701E|MAGI3_ENST00000369617.4_Missense_Mutation_p.K726E NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 726 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGATCCCCAAAATTGGATCC 0.383000 23 116 0 0 1 0 0 MGP 4256 broad.mit.edu 37 12 15038675 15038675 + Silent SNP A A C TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr12:15038675A>C ENST00000539261.1 - 1 185 c.51T>G c.(49-51)acT>acG p.T17T MGP_ENST00000228938.5_Silent_p.T17T|C12orf60_ENST00000527783.1_Intron NM_000900.3 NP_000891.2 P08493 MGP_HUMAN matrix Gla protein 17 cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 7 CATAACACAAAGTTACTACCG 0.473000 20 16 0 0 1 0 0 APOL6 80830 broad.mit.edu 37 22 36055263 36055263 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr22:36055263G>A ENST00000409652.3 + 3 928 c.652G>A c.(652-654)Gtg>Atg p.V218M NM_030641.3 NP_085144.1 Q9BWW8 APOL6_HUMAN apolipoprotein L, 6 218 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 CCGCGTGCAGGTGCAAAAGGC 0.582000 4 80 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110412313 110412313 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr8:110412313G>A ENST00000378402.5 + 13 1125 c.1021G>A c.(1021-1023)Ggc>Agc p.G341S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 341 IPT/TIG 3. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGGAGGGAGAGGCCTGAAGCT 0.403000 HNSCC(38;0.096) 76 98 0 0 1 0 0 FANCB 2187 broad.mit.edu 37 X 14877435 14877435 + Missense_Mutation SNP G G T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chrX:14877435G>T ENST00000398334.1 - 4 1240 c.973C>A c.(973-975)Ctt>Att p.L325I FANCB_ENST00000324138.3_Missense_Mutation_p.L325I NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 325 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) ACTAAGCTAAGTTTTTCCCAT 0.343000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 10 7.03913e-09 7.47907e-09 1 1 0 NFE2 4778 broad.mit.edu 37 12 54689025 54689025 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr12:54689025G>A ENST00000540264.2 - 1 517 c.8C>T c.(7-9)cCg>cTg p.P3L NFE2_ENST00000553070.1_Missense_Mutation_p.P3L|NFE2_ENST00000435572.2_Missense_Mutation_p.P3L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.P3L Q16621 NFE2_HUMAN nuclear factor, erythroid 2 3 Required for interaction with MAPK8 (By similarity).|Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 GGGAGGACACGGGGACATCCT 0.547000 16 28 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16890645 16890645 + Missense_Mutation SNP T T A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr1:16890645T>A ENST00000430580.2 - 29 4100 c.3213A>T c.(3211-3213)gaA>gaT p.E1071D NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1051 NBPF 7. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CCTGCAAGACTTCAGGCTCTT 0.468000 27 1998 0 0 1 0 0 ARHGAP8 23779 broad.mit.edu 37 22 45244837 45244837 + Silent SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr22:45244837C>T ENST00000517296.3 + 15 1404 c.1404C>T c.(1402-1404)taC>taT p.Y468Y ARHGAP8_ENST00000389773.5_Silent_p.Y380Y|ARHGAP8_ENST00000389774.2_Silent_p.Y289Y|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.Y389Y|ARHGAP8_ENST00000356099.6_Silent_p.Y258Y|ARHGAP8_ENST00000336963.4_Silent_p.Y258Y|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.Y468Y Rho GTPase activating protein 8 breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7) 29 all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649) UCEC - Uterine corpus endometrioid carcinoma (28;0.0204) TTGACGACTACGGGGACATTC 0.607000 80 57 0 0 1 0 0 GLOD4 51031 broad.mit.edu 37 17 679148 679148 + Silent SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr17:679148G>A ENST00000301329.6 - 4 358 c.273C>T c.(271-273)ctC>ctT p.L91L GLOD4_ENST00000301328.5_Silent_p.L106L|GLOD4_ENST00000536578.1_Silent_p.L82L NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 106 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GGCTAGAAGCGAGCGTGATTC 0.493000 19 79 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130409574 130409574 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chrX:130409574C>T ENST00000370904.1 - 22 3945 c.3035G>A c.(3034-3036)gGg>gAg p.G1012E IGSF1_ENST00000370903.3_Missense_Mutation_p.G1026E|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1012E|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1021E Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1021 Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGGGAATGCCCCGTCATTACT 0.522000 44 23 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55718097 55718097 + Silent SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr19:55718097G>A ENST00000376350.3 - 3 334 c.312C>T c.(310-312)gaC>gaT p.D104D PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.D104D NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 104 Fibronectin type-III 1. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.D104D(1) breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TATTTACTCCGTCTTTCTCCA 0.507000 46 212 0 0 1 0 0 MFSD1 64747 broad.mit.edu 37 3 158525196 158525196 + Silent SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr3:158525196C>T ENST00000415822.2 + 5 672 c.531C>T c.(529-531)gcC>gcT p.A177A MFSD1_ENST00000392813.4_Silent_p.A138A|MFSD1_ENST00000264266.8_Silent_p.A128A NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 128 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTGTTTTTGCCCTGGGTGGAA 0.279000 4 164 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115829175 115829175 + Missense_Mutation SNP C C A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr1:115829175C>A ENST00000369512.2 - 3 410 c.242G>T c.(241-243)cGa>cTa p.R81L RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 81 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TGAACGGAGTCGCCGCTTTTT 0.642000 7 37 0.0381472 0.0386014 1 1 0 PIPSL 266971 broad.mit.edu 37 10 95720745 95720745 + RNA SNP C C A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr10:95720745C>A ENST00000480546.1 - 0 552 NR_002319.2 ACAATGAACTCATCGTCGCTG 0.493000 9 35 0.307466 0.307466 1 1 0 MAGEA10 4109 broad.mit.edu 37 X 151303875 151303875 + Missense_Mutation SNP T T C TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chrX:151303875T>C ENST00000370323.4 - 4 534 c.218A>G c.(217-219)gAg>gGg p.E73G MAGEA10_ENST00000244096.3_Missense_Mutation_p.E73G|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 73 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGCAGAAACCTCCTCTGGGGT 0.527000 30 57 0 0 1 0 0 TMEM31 203562 broad.mit.edu 37 X 102968788 102968788 + Silent SNP C C A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chrX:102968788C>A ENST00000319560.6 + 3 560 c.369C>A c.(367-369)atC>atA p.I123I GLRA4_ENST00000372617.4_Intron NM_182541.2 NP_872347.2 Q5JXX7 TMM31_HUMAN transmembrane protein 31 123 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3) 7 GACTGCCCATCATACTCCACC 0.408000 57 24 4.6707e-30 5.36499e-30 1 1 0 SHC3 53358 broad.mit.edu 37 9 91657091 91657091 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr9:91657091C>T ENST00000375835.4 - 10 1516 c.1210G>A c.(1210-1212)Gac>Aac p.D404N SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 404 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CTGTAGATGTCCGAGGACCCT 0.557000 20 98 0 0 1 0 0 RAB6C 84084 broad.mit.edu 37 2 130738117 130738117 + Missense_Mutation SNP G G C TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr2:130738117G>C ENST00000410061.2 + 1 883 c.429G>C c.(427-429)agG>agC p.R143S NM_032144.2 NP_115520.2 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 143 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 5 Colorectal(110;0.1) AGGGAGAGAGGAAAGCCAAAG 0.448000 40 201 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33392179 33392179 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr19:33392179C>T ENST00000305768.4 - 15 1793 c.1705G>A c.(1705-1707)Gaa>Aaa p.E569K NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 569 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 CGTTCAAGTTCGGCTTCCAGT 0.408000 119 157 0 0 1 0 0 HERC6 55008 broad.mit.edu 37 4 89311908 89311908 + Missense_Mutation SNP A A G TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr4:89311908A>G ENST00000380265.5 + 4 724 c.541A>G c.(541-543)Atc>Gtc p.I181V HERC6_ENST00000273960.3_Missense_Mutation_p.I181V|HERC6_ENST00000264346.7_Missense_Mutation_p.I181V NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 181 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CCTGGAGGGGATCCCACTGGC 0.637000 6 26 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531821 84531821 + RNA SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr9:84531821G>A ENST00000527857.1 + 0 1843 NR_026851.1 TTTCTGTTTAGGTGTGTGGAT 0.488000 10 32 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55435237 55435237 + Silent SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr19:55435237C>T ENST00000446217.1 - 13 3471 c.3069G>A c.(3067-3069)ttG>ttA p.L1023L NLRP7_ENST00000448121.2_Silent_p.L967L|NLRP7_ENST00000340844.2_Silent_p.L938L|NLRP7_ENST00000328092.5_Silent_p.L967L|NLRP7_ENST00000592784.1_Silent_p.L995L|NLRP7_ENST00000590030.1_Silent_p.L938L|NLRP7_ENST00000588756.1_Silent_p.L995L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 0 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CATAGGTCTTCAACCTGGAGG 0.423000 9 109 0 0 1 0 0 CLIP3 25999 broad.mit.edu 37 19 36508625 36508625 + Silent SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr19:36508625G>A ENST00000360535.4 - 11 1610 c.1383C>T c.(1381-1383)gtC>gtT p.V461V CLIP3_ENST00000593074.1_Silent_p.V461V|AC002116.7_ENST00000586962.1_RNA NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 461 CAP-Gly 2. chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGACACCGAAGACAGAGCCAT 0.597000 13 63 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10961888 10961888 + Missense_Mutation SNP C C A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr12:10961888C>A ENST00000240691.2 - 1 879 c.787G>T c.(787-789)Gtg>Ttg p.V263L NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 263 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 ATCATCAACACTAATTTTCCC 0.413000 24 96 7.87624e-14 8.58309e-14 1 1 0 MGAM 8972 broad.mit.edu 37 7 141708491 141708491 + Missense_Mutation SNP C C A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr7:141708491C>A ENST00000475668.2 + 3 367 c.313C>A c.(313-315)Cag>Aag p.Q105K MGAM_ENST00000549489.2_Missense_Mutation_p.Q105K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 105 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CATCCCTGACCAGCCGCCAAC 0.378000 19 41 2.94398e-08 3.08936e-08 1 1 0 MSX1 4487 broad.mit.edu 37 4 4864431 4864431 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr4:4864431G>A ENST00000382723.4 + 2 707 c.473G>A c.(472-474)cGg>cAg p.R158Q MSX1_ENST00000468421.1_3'UTR NM_002448.3 NP_002439.2 P28360 MSX1_HUMAN msh homeobox 1 152 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCCTCAGGGCGGCTGAGCCCC 0.557000 26 79 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6854107 6854107 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr19:6854107C>T ENST00000304076.2 + 25 2510 c.2416C>T c.(2416-2418)Cgg>Tgg p.R806W VAV1_ENST00000599806.1_Missense_Mutation_p.R773W|VAV1_ENST00000596764.1_Missense_Mutation_p.R796W|VAV1_ENST00000539284.1_Missense_Mutation_p.R731W|VAV1_ENST00000602142.1_Missense_Mutation_p.R828W NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 828 SH3 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GATCTATGGCCGGGTGAGGCA 0.627000 14 37 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53589909 53589909 + Silent SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr12:53589909G>A ENST00000267082.5 - 7 1122 c.891C>T c.(889-891)gaC>gaT p.D297D ITGB7_ENST00000338737.4_Silent_p.D297D|ITGB7_ENST00000422257.3_Silent_p.D297D|ITGB7_ENST00000550743.2_Silent_p.D297D NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 297 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCAACTTCCCGTCCCCAGCTG 0.552000 16 69 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29994473 29994473 + Silent SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr16:29994473C>T ENST00000308893.4 + 12 2123 c.1080C>T c.(1078-1080)agC>agT p.S360S TAOK2_ENST00000279394.3_Silent_p.S360S|TAOK2_ENST00000543033.1_Silent_p.S360S|TAOK2_ENST00000416441.2_Silent_p.S187S NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 360 Ser-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 TGTCCATCAGCGCCTCCAGCC 0.632000 42 103 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18304795 18304795 + Splice_Site SNP C C A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr22:18304795C>A ENST00000441493.2 - 24 3801 c.e24+1 NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GACAGGCTCACCTCTCTCTTG 0.582000 62 44 2.01871e-26 2.28787e-26 1 1 0 FDX1 2230 broad.mit.edu 37 11 110333129 110333129 + Silent SNP T T C TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr11:110333129T>C ENST00000260270.2 + 4 730 c.492T>C c.(490-492)acT>acC p.T164T NM_004109.4 NP_004100.1 P10109 ADX_HUMAN ferredoxin 1 164 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding lung(2) 2 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) ACAATATGACTGTTCGAGTGC 0.403000 12 20 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98900459 98900459 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr8:98900459C>T ENST00000254898.5 + 2 362 c.131C>T c.(130-132)aCg>aTg p.T44M MATN2_ENST00000521689.1_Missense_Mutation_p.T44M|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.T44M|MATN2_ENST00000524308.1_Missense_Mutation_p.T44M NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 44 proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CACCCGCAGACGGCCCTTCTG 0.647000 6 21 0 0 1 0 0 RRNAD1 51093 broad.mit.edu 37 1 156703202 156703202 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr1:156703202G>A ENST00000368216.4 + 5 1156 c.526G>A c.(526-528)Ggg>Agg p.G176R RRNAD1_ENST00000476229.1_Missense_Mutation_p.G53R|RRNAD1_ENST00000368218.4_Missense_Mutation_p.G176R NM_015997.3 NP_057081.3 Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 176 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 TCTTGGCCTGGGGTTGATGGT 0.592000 14 110 0 0 1 0 0 CWF19L2 143884 broad.mit.edu 37 11 107312239 107312239 + Missense_Mutation SNP G G T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr11:107312239G>T ENST00000282251.5 - 5 587 c.560C>A c.(559-561)gCg>gAg p.A187E CWF19L2_ENST00000433523.1_Missense_Mutation_p.A187E NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 187 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) CTGTTCAAGCGCTTGGTTTTT 0.299000 6 4 0.00198382 0.00203162 1 1 0 HADHB 3032 broad.mit.edu 37 2 26486314 26486314 + Missense_Mutation SNP G G T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr2:26486314G>T ENST00000317799.5 + 4 280 c.176G>T c.(175-177)gGt>gTt p.G59V HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.G59V|HADHB_ENST00000405867.3_Missense_Mutation_p.G59V|HADHB_ENST00000545822.1_Missense_Mutation_p.G37V NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 59 G -> D (in TFP deficiency). fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGTGGATGGTGTTCGCACT 0.348000 35 108 6.90743e-12 7.43204e-12 1 1 0 PDZRN4 29951 broad.mit.edu 37 12 41900421 41900421 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr12:41900421C>T ENST00000298919.7 + 4 615 c.227C>T c.(226-228)aCg>aTg p.T76M PDZRN4_ENST00000539469.2_Missense_Mutation_p.T78M|PDZRN4_ENST00000402685.2_Missense_Mutation_p.T336M Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 336 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AGCACTCAGACGGACATCACC 0.522000 24 25 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99802373 99802373 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr7:99802373C>T ENST00000426455.1 + 27 3333 c.2926C>T c.(2926-2928)Cgt>Tgt p.R976C GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R918C|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.R976C|GATS_ENST00000436886.2_Intron Q9UJ98 STAG3_HUMAN stromal antigen 3 976 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCTGCAGAACCGTGACCTCGT 0.597000 8 26 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58467325 58467325 + Missense_Mutation SNP T T C TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr20:58467325T>C ENST00000357552.3 - 24 2309 c.2084A>G c.(2083-2085)cAg>cGg p.Q695R SYCP2_ENST00000371001.2_Missense_Mutation_p.Q695R Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 695 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ATTTTGTTGCTGATTGTGTTT 0.343000 29 154 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487598 248487598 + Silent SNP G G T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr1:248487598G>T ENST00000317965.2 - 1 301 c.273C>A c.(271-273)tcC>tcA p.S91S NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCATAGAAATGGACTTGCTGC 0.478000 54 394 9.16383e-17 1.01159e-16 1 1 0 NCKAP1 10787 broad.mit.edu 37 2 183817613 183817613 + Missense_Mutation SNP T T A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr2:183817613T>A ENST00000360982.2 - 23 3187 c.2429A>T c.(2428-2430)cAt>cTt p.H810L NCKAP1_ENST00000361354.3_Missense_Mutation_p.H804L NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 804 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ATATGCTATATGGCCATTGCT 0.343000 27 26 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69100236 69100236 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr4:69100236C>T ENST00000332644.5 - 5 575 c.414G>A c.(412-414)atG>atA p.M138I NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 138 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 TGTTTTTCAACATCTGATGTA 0.363000 17 39 0 0 1 0 0 GNB5 10681 broad.mit.edu 37 15 52427914 52427914 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr15:52427914C>T ENST00000261837.7 - 8 732 c.667G>A c.(667-669)Gac>Aac p.D223N CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Missense_Mutation_p.D181N|GNB5_ENST00000396335.4_Missense_Mutation_p.D111N NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 223 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) CTCTCCACGTCCCACAGGGCA 0.612000 20 70 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112607337 112607337 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr12:112607337G>A ENST00000550722.1 - 70 12135 c.11740C>T c.(11740-11742)Cgc>Tgc p.R3914C HECTD4_ENST00000430131.2_Missense_Mutation_p.R3638C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3888C NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CCAGTGAAGCGGATGTTGAAG 0.627000 5 20 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80044961 80044961 + Missense_Mutation SNP C C T rs147660865 TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr17:80044961C>T ENST00000306749.2 - 21 3610 c.3392G>A c.(3391-3393)cGc>cAc p.R1131H NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1131 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CAGGGCAGCGCGCTCAGACAG 0.667000 3 15 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34648291 34648291 + Silent SNP T T G TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr15:34648291T>G ENST00000537011.1 + 8 2464 c.2082T>G c.(2080-2082)ggT>ggG p.G694G NUTM1_ENST00000438749.3_Silent_p.G684G|NUTM1_ENST00000333756.4_Silent_p.G666G NUT midline carcinoma, family member 1 AAACAGGGGGTCGTGGAGTGC 0.557000 4 22 0 0 1 0 0 TATDN1 83940 broad.mit.edu 37 8 125506161 125506161 + Nonsense_Mutation SNP G G C TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr8:125506161G>C ENST00000276692.6 - 11 741 c.704C>G c.(703-705)tCa>tGa p.S235* TATDN1_ENST00000517678.1_Nonsense_Mutation_p.S181*|TATDN1_ENST00000519548.1_Nonsense_Mutation_p.S188* NM_032026.3 NP_114415.1 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 235 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TATATATTTTGATCCAGCATG 0.363000 54 118 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41512851 41512851 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr19:41512851G>A ENST00000324071.4 + 4 533 c.526G>A c.(526-528)Gcc>Acc p.A176T CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 176 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GTCCATTACCGCCAACATCAT 0.498000 23 28 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 112635 112635 + Missense_Mutation SNP G G A rs143220179 TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr16:112635G>A ENST00000262316.6 - 7 996 c.854C>T c.(853-855)tCg>tTg p.S285L RHBDF1_ENST00000454039.2_Missense_Mutation_p.S285L NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 285 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) CGCTGCCTCCGATGGGGACTC 0.617000 65 301 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2828811 2828811 + Missense_Mutation SNP C C G TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chrX:2828811C>G ENST00000381154.1 - 7 1099 c.1024G>C c.(1024-1026)Gac>Cac p.D342H NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 342 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AAACCATTGTCTTCGATGGCA 0.433000 25 36 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88584341 88584341 + Nonsense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr12:88584341C>T ENST00000266712.6 + 12 1868 c.1648C>T c.(1648-1650)Cag>Tag p.Q550* NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 550 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AGAAGCAGATCAGCTGTACCG 0.423000 16 63 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434084 179434084 + Missense_Mutation SNP G G T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr2:179434084G>T ENST00000589042.1 - 326 76999 c.76775C>A c.(76774-76776)gCc>gAc p.A25592D TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A23951D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A16652D|TTN_ENST00000342992.6_Missense_Mutation_p.A23024D|TTN_ENST00000342175.6_Missense_Mutation_p.A16719D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A16527D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23951 Fibronectin type-III 86. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTAACAAAGGCAGACTTTGT 0.418000 34 147 1.22384e-17 1.36876e-17 1 1 0 MAPK8IP1 9479 broad.mit.edu 37 11 45923556 45923556 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr11:45923556G>A ENST00000395629.2 + 4 848 c.518G>A c.(517-519)gGc>gAc p.G173D MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.G183D Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 183 JNK-binding domain (JBD).|Minimal inhibitory domain (MID). vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) AATTCTCTGGGCAAAAAGCAC 0.577000 5 239 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79319818 79319818 + Silent SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr9:79319818G>A ENST00000428286.1 - 8 7495 c.6295C>T c.(6295-6297)Ctg>Ttg p.L2099L PRUNE2_ENST00000376718.3_Silent_p.L2458L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2458 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CGAATATGCAGCACAGCCAGC 0.493000 OREG0019258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 16 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127957756 127957756 + Nonsense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr7:127957756G>A ENST00000223073.1 - 16 1858 c.1744C>T c.(1744-1746)Cga>Tga p.R582* RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Nonsense_Mutation_p.R441* NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 582 RRM 4. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 AGTTTTCTTCGATCTTCTAAA 0.368000 17 103 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29528441 29528441 + Nonsense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr17:29528441C>T ENST00000358273.4 + 11 1581 c.1198C>T c.(1198-1200)Cag>Tag p.Q400* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 400 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6)|p.Q400*(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTGCCTGGCTCAGAATTCACC 0.308000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 51 70 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20125215 20125215 + Missense_Mutation SNP A A C TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr11:20125215A>C ENST00000396085.1 + 35 6959 c.6598A>C c.(6598-6600)Aca>Cca p.T2200P NAV2_ENST00000527559.2_Missense_Mutation_p.T2185P|NAV2_ENST00000349880.4_Missense_Mutation_p.T2197P|NAV2_ENST00000533917.1_Missense_Mutation_p.T1261P|NAV2_ENST00000540292.1_Missense_Mutation_p.T2187P|NAV2_ENST00000360655.4_Missense_Mutation_p.T2133P|NAV2_ENST00000396087.3_Missense_Mutation_p.T2256P|NAV2_ENST00000311043.8_Missense_Mutation_p.T1261P NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2256 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CATAATTGGCACAATGAACCA 0.468000 22 54 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50167323 50167323 + RNA SNP A A G TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chrX:50167323A>G ENST00000376025.2 - 0 738 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) AAAGAGTTACAGTTCTTCAGC 0.378000 12 14 0 0 1 0 0 HSP90B1 7184 broad.mit.edu 37 12 104336574 104336574 + Splice_Site SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr12:104336574G>A ENST00000299767.5 + 12 1826 c.1644_splice c.e12+1 p.E548_splice NM_003299.1 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 548 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) GCAGAAAAGAGGTGAGATGAA 0.413000 15 73 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167168039 167168039 + Silent SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr2:167168039C>T ENST00000375387.4 - 2 568 c.228G>A c.(226-228)gaG>gaA p.E76E SCN9A_ENST00000303354.6_Silent_p.E76E|SCN9A_ENST00000409672.1_Silent_p.E76E|SCN9A_ENST00000409435.1_Silent_p.E76E Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 76 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GGTCCAAGTCCTCCAGGGGCT 0.458000 7 59 0 0 1 0 0 DAPK3 1613 broad.mit.edu 37 19 3964910 3964910 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr19:3964910G>A ENST00000545797.2 - 3 385 c.142C>T c.(142-144)Cgc>Tgc p.R48C DAPK3_ENST00000301264.3_Missense_Mutation_p.R48C O43293 DAPK3_HUMAN death-associated protein kinase 3 48 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GATGACAGGCGGCGCTTCTTG 0.652000 16 64 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13476249 13476249 + Silent SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr19:13476249C>T ENST00000360228.5 - 5 665 c.666G>A c.(664-666)gcG>gcA p.A222A CACNA1A_ENST00000573710.2_Silent_p.A222A NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 222 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AAGGGATCATCGCCTTCATGA 0.473000 14 32 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238243452 238243452 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr2:238243452C>T ENST00000295550.4 - 41 9498 c.9046G>A c.(9046-9048)Ggt>Agt p.G3016S COL6A3_ENST00000409809.1_Missense_Mutation_p.G2810S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G2409S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2815S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2816S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2810S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 3016 Fibronectin type-III.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AAATAAGGACCGGGGGGCTCA 0.542000 25 97 0 0 1 0 0 ELK3 2004 broad.mit.edu 37 12 96617528 96617528 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr12:96617528G>A ENST00000228741.3 + 2 510 c.184G>A c.(184-186)Gcc>Acc p.A62T ELK3_ENST00000552142.1_Missense_Mutation_p.A62T|RP11-394J1.2_ENST00000551844.1_RNA NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 62 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) GCTGAGCAGAGCCCTGCGATA 0.468000 10 44 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144916738 144916739 + Frame_Shift_Ins INS - - CT TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr1:144916738_144916739insCT ENST00000529945.1 - 9 2544_2545 c.2105_2106insAG c.(2104-2106)actfs p.T702fs PDE4DIP_ENST00000369349.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Ins_p.T676fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Ins_p.T676fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Ins_p.T702fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Ins_p.T326fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Ins_p.T605fs Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 539 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCCTCAGGAGACTCTCCATACT 0.411 T PDGFRB MPD 81 490 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 100990177 100990178 + Frame_Shift_Ins INS - - T rs7841915 by1000genomes TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr8:100990177_100990178insT ENST00000360863.6 - 23 3680_3681 c.3486_3487insA c.(3484-3489)aatggcfs p.NG1162fs RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1162 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGGACTGCCAATTTTTTTTTCT 0.312 7 117 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89720726 89720729 + Frame_Shift_Del DEL GGAA GGAA - TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr10:89720726_89720729delGGAA ENST00000371953.3 + 8 2234_2237 c.877_880delGGAA c.(877-882)gtfs p.GS293fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 293 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G293fs*14(2)|p.G165_*404del(1)|p.G293G(1)|p.W274_F341del(1)|p.G293fs*4(1)|p.G293*(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGTAGAAAATGGAAGTCTATGTGA 0.314 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 35 52 --- --- --- --- NUDT22 84304 broad.mit.edu 37 11 63997567 63997567 + RNA DEL A A - rs11364788 TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr11:63997567delA ENST00000534988.1 - 0 99 GTGACTTGGGAAAAAAAAAAA 0.498 4 9 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578207 7578207 + Frame_Shift_Del DEL A A - TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr17:7578207delA ENST00000420246.2 - 6 774 c.642delT c.(640-642)cafs p.H214fs TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.H214fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.H214fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H214fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 214 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(5)|p.H214Q(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H214fs*7(1)|p.H214H(1)|p.H214_S215insX(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCACCACACTATGTCGAAAAG 0.537 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 22 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e46661-7137-4716-92b6-0bc96bac5aac c504055d-8ff8-4dc5-870c-5345a71dba67 g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 3 3 --- --- --- ---