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 LSAMP 4045 broad.mit.edu 37 3 115560734 115560734 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr3:115560734C>T ENST00000490035.2 - 6 1376 c.877G>A c.(877-879)Gcc>Acc p.A293T LSAMP_ENST00000539563.1_Missense_Mutation_p.A290T|LSAMP_ENST00000498645.1_5'UTR NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) AGCTTGTTGGCAGCCACACAG 0.507000 11 51 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86393760 86393760 + Silent SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:86393760G>C ENST00000410111.3 - 7 1050 c.663C>G c.(661-663)gcC>gcG p.A221A IMMT_ENST00000442664.2_Silent_p.A220A|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000409051.2_Silent_p.A174A|IMMT_ENST00000254636.5_Silent_p.A122A|IMMT_ENST00000449247.2_Silent_p.A210A NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 221 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTAAGCTCTTGGCTAGAGCTT 0.418000 19 20 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14746986 14746986 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr9:14746986C>G ENST00000380881.4 - 35 6891 c.6076G>C c.(6076-6078)Gaa>Caa p.E2026Q FREM1_ENST00000380894.1_Missense_Mutation_p.E561Q|FREM1_ENST00000422223.2_Missense_Mutation_p.E2025Q|FREM1_ENST00000380880.3_Missense_Mutation_p.E2025Q Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 2025 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TGGATGCCTTCTTCAAAATGG 0.473000 5 11 0 0 1 0 0 TRIB3 57761 broad.mit.edu 37 20 377242 377242 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr20:377242C>G ENST00000217233.3 + 4 1538 c.985C>G c.(985-987)Ctc>Gtc p.L329V TRIB3_ENST00000422053.2_Missense_Mutation_p.L356V NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 329 apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) CCGATCCCATCTCTGGGAGGC 0.642000 22 43 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787601 73787601 + Missense_Mutation SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:73787601G>T ENST00000342056.2 + 5 1307 c.909G>T c.(907-909)tgG>tgT p.W303C KCNQ5_ENST00000355194.4_Missense_Mutation_p.W303C|KCNQ5_ENST00000414165.2_Missense_Mutation_p.W303C|KCNQ5_ENST00000370392.1_Missense_Mutation_p.W303C|KCNQ5_ENST00000403813.2_Missense_Mutation_p.W303C|KCNQ5_ENST00000370398.1_Missense_Mutation_p.W303C|KCNQ5_ENST00000402622.2_Missense_Mutation_p.W303C|KCNQ5_ENST00000355635.3_Missense_Mutation_p.W303C NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 303 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ATGCTCTCTGGTGGGGCACAG 0.323000 22 44 1.22574e-08 1.28114e-08 1 1 0 C2orf76 130355 broad.mit.edu 37 2 120078732 120078732 + Missense_Mutation SNP T T C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:120078732T>C ENST00000409466.2 - 4 703 c.182A>G c.(181-183)tAt>tGt p.Y61C C2orf76_ENST00000334816.7_Missense_Mutation_p.Y61C|C2orf76_ENST00000409877.1_Missense_Mutation_p.Y61C|C2orf76_ENST00000409523.1_Missense_Mutation_p.Y61C Q3KRA6 CB076_HUMAN chromosome 2 open reading frame 76 61 large_intestine(1)|lung(3)|pancreas(1) 5 atGGTTACCATATTTATAATT 0.249000 12 23 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90744713 90744713 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr14:90744713C>T ENST00000354366.3 - 14 3694 c.3462G>A c.(3460-3462)ccG>ccA p.P1154P NRDE2_ENST00000357904.3_Silent_p.P923P NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing p.P1154P(1) GCTCCTCCAGCGGCAGGCGCA 0.637000 5 21 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135594161 135594161 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chrX:135594161G>A ENST00000535601.1 + 10 2679 c.2257G>A c.(2257-2259)Gat>Aat p.D753N HTATSF1_ENST00000218364.4_Missense_Mutation_p.D753N NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 753 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGATGACGATGATATTTA 0.448000 36 13 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7677174 7677174 + Missense_Mutation SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:7677174G>C ENST00000446248.2 + 13 1977 c.1876G>C c.(1876-1878)Gag>Cag p.E626Q CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E599Q NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 599 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CCTGAGCTCGGAGATGAGTGA 0.657000 4 7 0 0 1 0 0 BCL2L12 83596 broad.mit.edu 37 19 50173542 50173542 + Missense_Mutation SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:50173542G>C ENST00000246785.3 + 6 1009 c.751G>C c.(751-753)Gag>Cag p.E251Q BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Missense_Mutation_p.E250Q NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 251 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CCGCCTGGTGGAGCTGTTCTG 0.711000 4 7 0 0 1 0 0 SH3GL1 6455 broad.mit.edu 37 19 4362347 4362347 + Missense_Mutation SNP G G A rs149527990 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:4362347G>A ENST00000269886.3 - 9 1067 c.889C>T c.(889-891)Cgg>Tgg p.R297W SH3GL1_ENST00000598564.1_Missense_Mutation_p.R233W|SH3GL1_ENST00000417295.2_Missense_Mutation_p.R249W NM_003025.3 NP_003016.1 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 297 central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CTAGGGGTCCGGATGGGCTTG 0.612000 T MLL AL 8 13 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27100390 27100390 + Splice_Site SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:27100390G>A ENST00000324856.7 + 17 4472 c.e17+1 ARID1A_ENST00000540690.1_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000457599.2_Splice_Site NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCAACAGCAGGTGAGGAGGGT 0.483000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 134 67 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 21036289 21036289 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:21036289C>T ENST00000247986.2 - 4 823 c.513G>A c.(511-513)gtG>gtA p.V171V KIF17_ENST00000400463.3_Silent_p.V171V|KIF17_ENST00000375044.1_Silent_p.V71V Q9P2E2 KIF17_HUMAN kinesin family member 17 171 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) ACAGCCCCTTCACGTACACGC 0.607000 10 26 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37665710 37665710 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr21:37665710C>T ENST00000399151.3 + 37 6823 c.6738C>T c.(6736-6738)ttC>ttT p.F2246F NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 2246 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TGATGCCATTCTTCATGACTC 0.478000 40 58 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49644694 49644694 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:49644694G>A ENST00000334186.4 + 19 2735 c.2386G>A c.(2386-2388)Gag>Aag p.E796K PPFIA3_ENST00000602351.1_Missense_Mutation_p.E796K NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 796 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) ACCCTCAGATGAGACACTGGC 0.552000 11 34 0 0 1 0 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033565 26033565 + Missense_Mutation SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:26033565G>T ENST00000259791.2 - 1 231 c.232C>A c.(232-234)Cgc>Agc p.R78S NM_003513.2 NP_003504.2 P04908 H2A1B_HUMAN histone cluster 1, H2ab 78 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 GGGATGATGCGGGTCTTCTTG 0.632000 30 79 3.90053e-15 4.21987e-15 1 1 0 CYP2A6 1548 broad.mit.edu 37 19 41354268 41354268 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:41354268G>A ENST00000301141.5 - 4 530 c.510C>T c.(508-510)ccC>ccT p.P170P CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 170 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GGAAGAAGGTGGGATCGATAT 0.552000 36 58 0 0 1 0 0 KCNV2 169522 broad.mit.edu 37 9 2729517 2729517 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr9:2729517C>T ENST00000382082.3 + 2 1666 c.1428C>T c.(1426-1428)ctC>ctT p.L476L NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 476 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) TTGCCTTCCTCTGCATTGCTT 0.483000 6 21 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70340864 70340864 + Missense_Mutation SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chrX:70340864G>C ENST00000333646.6 + 5 796 c.597G>C c.(595-597)caG>caC p.Q199H MED12_ENST00000374102.1_Missense_Mutation_p.Q199H|MED12_ENST00000374080.3_Missense_Mutation_p.Q199H NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 199 androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) AGCAGTTACAGAAGATGGCTG 0.507000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 35 12 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69516995 69516995 + Missense_Mutation SNP A A G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chrX:69516995A>G ENST00000374403.3 + 4 465 c.383A>G c.(382-384)aAa>aGa p.K128R KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Missense_Mutation_p.K128R NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 128 Kinesin-motor. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 GAAATTGATAAAAAGAGTGAC 0.343000 9 5 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30864529 30864529 + Missense_Mutation SNP C C T rs115812777 by1000genomes TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr22:30864529C>T ENST00000403066.1 - 6 495 c.212G>A c.(211-213)cGc>cAc p.R71H SEC14L3_ENST00000401751.1_Missense_Mutation_p.R71H|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R130H|SEC14L3_ENST00000415957.2_Missense_Mutation_p.R71H|SEC14L3_ENST00000539629.1_Missense_Mutation_p.R71H|SEC14L3_ENST00000540910.1_Missense_Mutation_p.R53H|SEC14L3_ENST00000402286.1_Missense_Mutation_p.R53H Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 130 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) ATGCAGGATGCGCTCACAGTC 0.602000 25 38 0 0 1 0 0 MRPS6 64968 broad.mit.edu 37 21 35514865 35514865 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr21:35514865G>A ENST00000399312.2 + 3 521 c.343G>A c.(343-345)Gaa>Aaa p.E115K AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000482679.1_3'UTR NM_032476.3 NP_115865.1 P82932 RT06_HUMAN mitochondrial ribosomal protein S6 115 translation mitochondrion|small ribosomal subunit rRNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1) 6 CCCACTCGCAGAAAAATTATA 0.418000 19 21 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17083652 17083652 + RNA SNP C C T rs113710576 by1000genomes TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:17083652C>T ENST00000455405.2 - 0 936 aaatctcaaccttgagtacaa 0.388000 4 31 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101348375 101348375 + Nonsense_Mutation SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr14:101348375G>T ENST00000534062.1 - 1 2809 c.2751C>A c.(2749-2751)taC>taA p.Y917* NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 917 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 CCGCTTGAGAGTACTCAACCT 0.562000 5 16 0.000602214 0.000608796 1 1 0 C12orf5 57103 broad.mit.edu 37 12 4461585 4461585 + Missense_Mutation SNP A A G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:4461585A>G ENST00000179259.4 + 6 608 c.541A>G c.(541-543)Aat>Gat p.N181D NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 181 intracellular fructose-2,6-bisphosphate 2-phosphatase activity endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) CTCTAAAGTTAATTCAGACAG 0.398000 47 52 0 0 1 0 0 FOLR3 2352 broad.mit.edu 37 11 71850702 71850702 + Missense_Mutation SNP T T A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr11:71850702T>A ENST00000445078.2 + 5 756 c.685T>A c.(685-687)Tgt>Agt p.C229S FOLR3_ENST00000442948.2_Missense_Mutation_p.C188S|FOLR3_ENST00000456237.1_Missense_Mutation_p.C231S P41439 FOLR3_HUMAN folate receptor 3 (gamma) 187 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) AGCCGCCCTTTGTGAAGGCCT 0.592000 26 38 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486310 94486310 + Silent SNP G G A rs146432734 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr9:94486310G>A ENST00000375708.3 - 9 2664 c.2466C>T c.(2464-2466)aaC>aaT p.N822N ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 822 Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.N822N(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCTGGTAGCCGTTGACGGGGA 0.662000 51 12 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100490079 100490079 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr7:100490079G>A ENST00000302913.4 - 3 1567 c.1429C>T c.(1429-1431)Ccc>Tcc p.P477S ACHE_ENST00000411582.1_Missense_Mutation_p.P477S|ACHE_ENST00000241069.5_Missense_Mutation_p.P477S|ACHE_ENST00000419336.2_Missense_Mutation_p.P389S|ACHE_ENST00000412389.1_Missense_Mutation_p.P477S|ACHE_ENST00000428317.1_Missense_Mutation_p.P477S NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 477 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) TAGCCGTGGGGCACCCCCATC 0.622000 14 23 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60574699 60574699 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr14:60574699G>A ENST00000406854.1 + 2 897 c.343G>A c.(343-345)Gag>Aag p.E115K PCNXL4_ENST00000404681.2_Missense_Mutation_p.E115K|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000391611.2_Missense_Mutation_p.E115K pecanex-like 4 (Drosophila) AGAGGAGGATGAGCATGAATT 0.373000 5 20 0 0 1 0 0 C19orf43 79002 broad.mit.edu 37 19 12842168 12842168 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:12842168G>A ENST00000242784.4 - 2 530 c.413C>T c.(412-414)aCg>aTg p.T138M C19orf43_ENST00000588213.1_Silent_p.D130D|C19orf43_ENST00000592273.1_Intron NM_024038.2 NP_076943.1 Q9BQ61 CS043_HUMAN chromosome 19 open reading frame 43 138 endometrium(2)|large_intestine(2) 4 CTCATCCTCCGTCTTCTGCTT 0.577000 26 32 0 0 1 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745221 23745221 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr14:23745221C>T ENST00000357460.5 - 2 1380 c.1216G>A c.(1216-1218)Gac>Aac p.D406N HOMEZ_ENST00000561013.1_Missense_Mutation_p.D408N|HOMEZ_ENST00000431326.2_Missense_Mutation_p.D408N NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 406 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) TAGCGTGTGTCACCAAACCAC 0.498000 6 19 0 0 1 0 0 PIGM 93183 broad.mit.edu 37 1 160000591 160000591 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:160000591G>A ENST00000368090.2 - 1 1192 c.939C>T c.(937-939)ctC>ctT p.L313L NM_145167.2 NP_660150.1 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, class M 313 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AACAAAAAACGAGGTCTCTGT 0.443000 30 58 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 5924052 5924052 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:5924052G>A ENST00000378156.4 - 29 4303 c.4038C>T c.(4036-4038)gtC>gtT p.V1346V NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 1346 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TCCTCTTGTTGACACCCTTCC 0.632000 24 15 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28326943 28326943 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr15:28326943G>A ENST00000354638.3 - 2 233 c.78C>T c.(76-78)agC>agT p.S26S OCA2_ENST00000353809.5_Silent_p.S26S|OCA2_ENST00000382996.2_Silent_p.S26S NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 26 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CAGCGAGTCCGCTGGGCACGG 0.706000 Oculocutaneous Albinism 17 24 0 0 1 0 0 KCNV2 169522 broad.mit.edu 37 9 2729539 2729539 + Missense_Mutation SNP C C A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr9:2729539C>A ENST00000382082.3 + 2 1688 c.1450C>A c.(1450-1452)Ctc>Atc p.L484I NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 484 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) TGGGATCATTCTCAACGGGAT 0.502000 4 24 0.00909568 0.00909568 1 1 0 POLE 5426 broad.mit.edu 37 12 133257224 133257224 + Missense_Mutation SNP T T C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:133257224T>C ENST00000320574.5 - 3 297 c.254A>G c.(253-255)tAc>tGc p.Y85C POLE_ENST00000535270.1_Intron NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 85 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TTGAATAAAGTAGTAATCCAC 0.438000 DNA polymerases (catalytic subunits) 43 92 0 0 1 0 0 PITPNC1 26207 broad.mit.edu 37 17 65628271 65628271 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr17:65628271G>A ENST00000580974.1 + 6 1075 c.379G>A c.(379-381)Gaa>Aaa p.E127K PITPNC1_ENST00000335257.6_Missense_Mutation_p.E127K|PITPNC1_ENST00000581322.1_Missense_Mutation_p.E127K|PITPNC1_ENST00000299954.9_Missense_Mutation_p.E127K NM_012417.3|NM_181671.2 NP_036549.2|NP_858057.1 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 127 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) TTTCGACAATGAAGCCAAAGA 0.448000 39 5 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189926325 189926325 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:189926325C>G ENST00000374866.3 - 30 2268 c.1994G>C c.(1993-1995)aGa>aCa p.R665T NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 665 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTGTTCTCCTCTTTCACCAGC 0.383000 9 35 0 0 1 0 0 RBM39 9584 broad.mit.edu 37 20 34302110 34302110 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr20:34302110C>G ENST00000361162.6 - 11 1477 c.1093G>C c.(1093-1095)Gag>Cag p.E365Q RBM39_ENST00000528062.3_Missense_Mutation_p.E343Q|RBM39_ENST00000253363.6_Missense_Mutation_p.E365Q|RBM39_ENST00000407261.4_Missense_Mutation_p.E208Q NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 365 Interaction with ESR1 and ESR2 (By similarity).|Interaction with JUN (By similarity). mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) CACTTACCCTCTGCAAGTCTT 0.388000 5 69 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895665 42895665 + Nonsense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr4:42895665C>T ENST00000399770.2 + 1 382 c.382C>T c.(382-384)Cag>Tag p.Q128* NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 128 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 CAAAGTATTACAGGTAAGTCA 0.408000 18 70 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C T rs121912656 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr17:7577547C>T ENST00000420246.2 - 7 866 c.734G>A c.(733-735)gGc>gAc p.G245D TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582000 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) 4 70 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81768548 81768548 + Splice_Site SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:81768548C>G ENST00000550584.2 - 10 1427 c.e10-1 PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000545296.2_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TCTCTTCCATCTGAAATGGGA 0.448000 11 43 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886082 88886082 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr8:88886082C>T ENST00000319675.3 - 1 214 c.118G>A c.(118-120)Gcc>Acc p.A40T NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 40 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CAATAGTTGGCGAATCTGAGG 0.522000 25 59 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600014 28600014 + RNA SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr15:28600014C>T ENST00000568624.1 - 0 393 GAACCTGGGCCTTTGGGAGAA 0.488000 24 100 0 0 1 0 0 RUNX3 864 broad.mit.edu 37 1 25229116 25229116 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:25229116C>T ENST00000399916.1 - 6 1225 c.787G>A c.(787-789)Gac>Aac p.D263N RUNX3_ENST00000308873.6_Missense_Mutation_p.D249N|RUNX3_ENST00000338888.3_Missense_Mutation_p.D263N|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Missense_Mutation_p.D156N NM_001031680.2 NP_001026850.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 249 Pro/Ser/Thr-rich. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) AAGGAGCGGTCAAACTGGCGG 0.637000 35 137 0 0 1 0 0 BAK1 578 broad.mit.edu 37 6 33541642 33541642 + Missense_Mutation SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:33541642G>C ENST00000374467.3 - 6 822 c.574C>G c.(574-576)Ctg>Gtg p.L192V BAK1_ENST00000442998.2_3'UTR|BAK1_ENST00000360661.5_Missense_Mutation_p.L192V NM_001188.3 NP_001179.1 Q16611 BAK_HUMAN BCL2-antagonist/killer 1 192 activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria integral to mitochondrial outer membrane|pore complex metal ion binding|protein heterodimerization activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 AGAACCACCAGCACGTTCAGG 0.562000 16 22 0 0 1 0 0 FXYD6 53826 broad.mit.edu 37 11 117712529 117712529 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr11:117712529G>A ENST00000526014.1 - 4 744 c.149C>T c.(148-150)tCg>tTg p.S50L FXYD6_ENST00000584394.1_Missense_Mutation_p.S50L|FXYD6_ENST00000529335.2_Missense_Mutation_p.S49L|FXYD6_ENST00000260282.4_Missense_Mutation_p.S50L|FXYD6-FXYD2_ENST00000532984.1_Missense_Mutation_p.S50L|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000539526.1_Missense_Mutation_p.S50L|FXYD6_ENST00000584230.1_Missense_Mutation_p.S50L|FXYD6_ENST00000530956.1_Missense_Mutation_p.S50L|FXYD6_ENST00000527717.1_Missense_Mutation_p.S50L|FXYD6_ENST00000524656.1_Missense_Mutation_p.S50L|FXYD6_ENST00000540359.1_Missense_Mutation_p.S50L|FXYD6_ENST00000527429.1_Missense_Mutation_p.S50L NM_022003.3 NP_071286.1 FXYD domain containing ion transport regulator 6 central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1) 8 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122) GATCCCAACCGAGAAGAGGAC 0.532000 19 35 0 0 1 0 0 FAM110C 642273 broad.mit.edu 37 2 45636 45636 + Missense_Mutation SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:45636G>C ENST00000327669.4 - 1 749 c.750C>G c.(748-750)agC>agG p.S250R NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 250 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) CGACGCTCACGCTGCGCACCT 0.692000 8 5 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130897317 130897317 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:130897317C>T ENST00000261655.4 - 15 2831 c.2668G>A c.(2668-2670)Gac>Aac p.D890N NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 890 SH3 2. cell junction|synapse p.D890Y(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CCATCAGCGTCTTTATCACCA 0.448000 19 17 0 0 1 0 0 HRH3 11255 broad.mit.edu 37 20 60791271 60791271 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr20:60791271G>A ENST00000340177.5 - 3 1413 c.1129C>T c.(1129-1131)Ctg>Ttg p.L377L HRH3_ENST00000317393.6_Silent_p.L377L NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 377 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) ATGATCATCAGCAGCGTGTAT 0.617000 10 6 0 0 1 0 0 NDUFV1 4723 broad.mit.edu 37 11 67378016 67378016 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr11:67378016G>A ENST00000322776.6 + 5 828 c.675G>A c.(673-675)ctG>ctA p.L225L NDUFV1_ENST00000532303.1_Silent_p.L124L|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Silent_p.L216L|NDUFV1_ENST00000415352.2_Silent_p.L218L NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 225 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) AGCCCCGCCTGAAGCCCCCCT 0.617000 21 32 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104074323 104074323 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr4:104074323C>G ENST00000265148.3 - 25 3207 c.3118G>C c.(3118-3120)Gag>Cag p.E1040Q CENPE_ENST00000380026.3_Missense_Mutation_p.E1015Q NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1040 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CTTTGTTGCTCAATTATCTCA 0.323000 23 36 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356654 37356654 + Missense_Mutation SNP A A G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr20:37356654A>G ENST00000217420.1 + 2 1213 c.950A>G c.(949-951)tAc>tGc p.Y317C NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 317 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) GTGTTCAGCTACACGTCTCAG 0.567000 16 54 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113141679 113141679 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr9:113141679C>T ENST00000401783.2 - 44 10692 c.10356G>A c.(10354-10356)ctG>ctA p.L3452L SVEP1_ENST00000297826.5_Silent_p.L1378L|SVEP1_ENST00000374469.1_Silent_p.L3429L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3452 Sushi 34. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AAACACTCCTCAGGAAACCCT 0.398000 31 9 0 0 1 0 0 SLC41A3 54946 broad.mit.edu 37 3 125731504 125731504 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr3:125731504C>G ENST00000383598.2 - 8 1266 c.981G>C c.(979-981)caG>caC p.Q327H SLC41A3_ENST00000360370.4_Missense_Mutation_p.Q353H|SLC41A3_ENST00000508835.1_Missense_Mutation_p.Q236H|SLC41A3_ENST00000315891.6_Missense_Mutation_p.Q353H|SLC41A3_ENST00000346785.5_Missense_Mutation_p.Q317H NM_001008487.1 NP_001008487.1 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 353 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) ATTTCTTCATCTGGAGGGGCA 0.512000 66 54 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34824635 34824635 + Nonsense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:34824635C>T ENST00000192788.5 + 11 1531 c.1360C>T c.(1360-1362)Cag>Tag p.Q454* UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.Q454* NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 454 Q -> R (in dbSNP:rs11755393). breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GCCTGCCTTTCAGCCTCCAGC 0.502000 33 45 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38516466 38516466 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr7:38516466G>A ENST00000356264.2 - 6 715 c.500C>T c.(499-501)tCt>tTt p.S167F AMPH_ENST00000428293.2_Missense_Mutation_p.S167F|AMPH_ENST00000325590.5_Missense_Mutation_p.S167F NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 167 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 CCCTACCTTAGAGATTCGACT 0.478000 21 18 0 0 1 0 0 RPF1 80135 broad.mit.edu 37 1 84961607 84961607 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:84961607C>G ENST00000370654.5 + 7 757 c.742C>G c.(742-744)Ctg>Gtg p.L248V NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 248 Brix. rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 TGAAATAATTCTGAATAATTT 0.383000 22 41 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57597142 57597142 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr16:57597142C>G ENST00000340339.4 + 4 803 c.280C>G c.(280-282)Ctg>Gtg p.L94V GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L94V NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 94 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 CAGTGCCACTCTGAAGCGGGT 0.602000 35 54 0 0 1 0 0 OGFRL1 79627 broad.mit.edu 37 6 72006031 72006031 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:72006031G>A ENST00000370435.4 + 4 546 c.412G>A c.(412-414)Gaa>Aaa p.E138K RP11-154D6.1_ENST00000587253.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 138 membrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 TGTTTACATTGAAGAAGTTCT 0.299000 17 69 0 0 1 0 0 GEN1 348654 broad.mit.edu 37 2 17952470 17952470 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:17952470C>T ENST00000381254.2 + 7 932 c.718C>T c.(718-720)Cgg>Tgg p.R240W SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.R240W NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 240 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AAGGTTTAATCGGTGGAATGA 0.373000 Homologous recombination 12 40 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1137574 1137574 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:1137574C>T ENST00000397203.2 + 2 911 c.505C>T c.(505-507)Cgg>Tgg p.R169W ERC1_ENST00000543086.3_Missense_Mutation_p.R169W|ERC1_ENST00000589028.1_Missense_Mutation_p.R169W|ERC1_ENST00000355446.5_Missense_Mutation_p.R169W|ERC1_ENST00000546231.2_Missense_Mutation_p.R169W|ERC1_ENST00000360905.4_Missense_Mutation_p.R169W Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 169 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TGATCTCTTGCGGAAGGATGT 0.463000 26 49 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41742178 41742178 + Missense_Mutation SNP A A G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr22:41742178A>G ENST00000352645.4 + 14 1888 c.1631A>G c.(1630-1632)aAg>aGg p.K544R ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K544R NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 560 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 AAGCTCCTGAAGGAGCACCAG 0.657000 13 33 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133245252 133245252 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:133245252C>T ENST00000320574.5 - 18 2038 c.1995G>A c.(1993-1995)cgG>cgA p.R665R POLE_ENST00000535270.1_Silent_p.R638R NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 665 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) AGGCCATCTTCCGCTGGCAGT 0.627000 DNA polymerases (catalytic subunits) 23 29 0 0 1 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118404576 118404576 + RNA SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr10:118404576G>C ENST00000537242.1 + 0 1401 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) CACTGTGGAAGAAAACGTCTT 0.408000 8 20 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160813127 160813127 + Silent SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:160813127C>G ENST00000283243.7 - 21 3122 c.2916G>C c.(2914-2916)ctG>ctC p.L972L PLA2R1_ENST00000392771.1_Silent_p.L972L NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 972 C-type lectin 6. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TGGGGATATTCAGCAGAAGGC 0.413000 34 42 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492997 21492997 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr20:21492997C>T ENST00000377142.4 - 2 742 c.386G>A c.(385-387)cGa>cAa p.R129Q NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 129 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 TCGCCGCTTTCGCTTCTTGCC 0.687000 4 4 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72184061 72184061 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr8:72184061C>G ENST00000340726.3 - 10 1537 c.898G>C c.(898-900)Gat>Cat p.D300H EYA1_ENST00000388741.2_Missense_Mutation_p.D266H|EYA1_ENST00000388742.4_Missense_Mutation_p.D300H|EYA1_ENST00000388740.3_Missense_Mutation_p.D267H|EYA1_ENST00000419131.1_Missense_Mutation_p.D295H|EYA1_ENST00000303824.7_Missense_Mutation_p.D294H|EYA1_ENST00000388743.2_Missense_Mutation_p.D299H NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 300 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GATTTCCCATCTGAACCTCGA 0.463000 92 106 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4856041 4856041 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr7:4856041C>T ENST00000399583.3 - 8 1971 c.1784G>A c.(1783-1785)cGc>cAc p.R595H RADIL_ENST00000536091.1_Silent_p.A541A|RADIL_ENST00000538469.1_Missense_Mutation_p.R355H NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 595 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GCTCTCACGGCGCTCCGTCTG 0.677000 8 7 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46658345 46658345 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:46658345G>A ENST00000544460.1 + 1 2734 c.2480G>A c.(2479-2481)cGa>cAa p.R827Q TDRD6_ENST00000316081.6_Missense_Mutation_p.R827Q NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 827 Tudor 4. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TTGGCTAAGCGAACAGTAAAC 0.398000 11 77 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36277734 36277734 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:36277734G>A ENST00000007510.4 + 20 2506 c.2362G>A c.(2362-2364)Gcc>Acc p.A788T ARHGAP33_ENST00000314737.5_Intron|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A652T O14559 RHG33_HUMAN Rho GTPase activating protein 33 788 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CACCAGCCCCGCCTCGCCTGC 0.726000 2 1 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6703405 6703405 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr17:6703405G>A ENST00000338694.2 - 8 1327 c.1198C>T c.(1198-1200)Cgg>Tgg p.R400W TEKT1_ENST00000535086.1_Missense_Mutation_p.R254W NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 400 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TCCCCATCCCGAAGTGGGATG 0.512000 17 97 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237863742 237863742 + Missense_Mutation SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:237863742G>T ENST00000366574.2 + 65 9659 c.9342G>T c.(9340-9342)caG>caT p.Q3114H RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.Q3112H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q3098H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3114 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATATTGGCCAGCATCAGTTCG 0.378000 10 5 0.000673444 0.000677104 1 1 0 THRB 7068 broad.mit.edu 37 3 24188225 24188225 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr3:24188225C>T ENST00000396671.2 - 7 821 c.473G>A c.(472-474)cGa>cAa p.R158Q THRB_ENST00000356447.4_Missense_Mutation_p.R158Q|THRB_ENST00000416420.1_Missense_Mutation_p.R158Q|THRB_ENST00000280696.5_Missense_Mutation_p.R173Q NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 158 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) GCACTGATTTCGCGTGACTTT 0.363000 20 83 0 0 1 0 0 KRT8 3856 broad.mit.edu 37 12 53298806 53298806 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:53298806G>A ENST00000552150.1 - 2 63 c.44C>T c.(43-45)tCc>tTc p.S15F KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000293308.6_5'UTR|KRT8_ENST00000546897.1_5'UTR NM_001256282.1 NP_001243211.1 P05787 K2C8_HUMAN keratin 8 0 Head.|Ser-rich. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAACCAGGCGGAGATCCTAGA 0.607000 6 10 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 53 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33413727 33413727 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:33413727G>A ENST00000404816.2 + 7 1863 c.1510G>A c.(1510-1512)Gat>Aat p.D504N LTBP1_ENST00000418533.2_Missense_Mutation_p.D178N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D178N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D178N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D178N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D178N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D504N Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 504 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TTCAAGAATTGATGGCCCAAC 0.468000 35 62 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119810229 119810229 + Missense_Mutation SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr4:119810229G>T ENST00000307142.4 + 1 234 c.38G>T c.(37-39)gGa>gTa p.G13V SYNPO2_ENST00000448416.2_Missense_Mutation_p.G13V|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G13V|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G13V NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 13 PDZ. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TCCATGACTGGAGGGGCGCCC 0.537000 10 64 5.16669e-11 5.46193e-11 1 1 0 ASCC3 10973 broad.mit.edu 37 6 101073134 101073134 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:101073134C>G ENST00000369162.2 - 30 5063 c.4719G>C c.(4717-4719)ttG>ttC p.L1573F NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1573 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CGATCAATTCCAAAGCAGTAA 0.388000 11 36 0 0 1 0 0 RABGAP1 23637 broad.mit.edu 37 9 125760892 125760892 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr9:125760892G>A ENST00000373647.4 + 10 1355 c.1221G>A c.(1219-1221)atG>atA p.M407I NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 407 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 TCCTGTTTATGACCACAGCTG 0.363000 115 35 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45387554 45387554 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr17:45387554C>T ENST00000559488.1 + 15 2367 c.2351C>T c.(2350-2352)aCg>aTg p.T784M ITGB3_ENST00000560629.1_Intron|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000435993.2_Intron NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 784 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) ACCAATATCACGTACCGGGGC 0.473000 23 5 0 0 1 0 0 KHDC1 80759 broad.mit.edu 37 6 73951320 73951320 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:73951320C>T ENST00000370384.3 - 5 1146 c.646G>A c.(646-648)Gtt>Att p.V216I KHDC1_ENST00000257765.5_Missense_Mutation_p.V143I|RP11-257K9.8_ENST00000423730.3_Intron NM_001251874.1 NP_001238803.1 Q4VXA5 KHDC1_HUMAN KH homology domain containing 1 216 integral to membrane RNA binding large_intestine(1)|lung(4)|skin(1) 6 GGCTGAGGAACGCTAAGACAC 0.512000 37 69 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5754800 5754800 + Missense_Mutation SNP G G A rs147871230 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr7:5754800G>A ENST00000425013.2 - 11 1770 c.1546C>T c.(1546-1548)Cgc>Tgc p.R516C RNF216_ENST00000389902.3_Missense_Mutation_p.R573C NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 516 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TAGCAGCAGCGACACTCAATC 0.522000 13 160 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40909764 40909764 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:40909764C>T ENST00000291825.7 - 5 301 c.33G>A c.(31-33)ctG>ctA p.L11L PRX_ENST00000324001.7_Silent_p.L11L NM_020956.2 NP_066007.1 Q9BXM0 PRAX_HUMAN periaxin 11 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCGCCCGCCTCAGCTCCTGCA 0.627000 5 5 0 0 1 0 0 FOXL1 2300 broad.mit.edu 37 16 86613253 86613253 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr16:86613253C>G ENST00000320241.3 + 1 1139 c.924C>G c.(922-924)ttC>ttG p.F308L NM_005250.2 NP_005241.1 Q12952 FOXL1_HUMAN forkhead box L1 308 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1) 15 GTCCGCCTTTCAACGCTTCCC 0.667000 13 14 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37490228 37490228 + Missense_Mutation SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr10:37490228G>T ENST00000374660.1 + 37 3132 c.3033G>T c.(3031-3033)atG>atT p.M1011I ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M892I|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.M892I Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1035 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAAAAGAAATGGATAAAATAA 0.323000 13 60 4.75885e-15 5.11853e-15 1 1 0 PCLO 27445 broad.mit.edu 37 7 82585107 82585107 + Missense_Mutation SNP T T A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr7:82585107T>A ENST00000333891.9 - 5 5499 c.5162A>T c.(5161-5163)cAt>cTt p.H1721L PCLO_ENST00000423517.2_Missense_Mutation_p.H1721L NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCTGGAAGCATGCAGACTCGA 0.463000 5 70 0 0 1 0 0 CDK15 65061 broad.mit.edu 37 2 202700371 202700371 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:202700371G>A ENST00000450471.2 + 8 822 c.736G>A c.(736-738)Gcc>Acc p.A246T CDK15_ENST00000434439.1_Missense_Mutation_p.A246T|CDK15_ENST00000374598.4_Missense_Mutation_p.A246T|CDK15_ENST00000260967.2_Missense_Mutation_p.A195T|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000410091.3_Missense_Mutation_p.A195T NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 246 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) GACAGGTCTTGCCCGGGCCAA 0.512000 18 22 0 0 1 0 0 S1PR1 1901 broad.mit.edu 37 1 101704753 101704753 + Nonsense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:101704753G>A ENST00000305352.6 + 2 588 c.213G>A c.(211-213)tgG>tgA p.W71* S1PR1_ENST00000475821.1_3'UTR NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 71 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 TGACCATTTGGAAAACCAAGA 0.473000 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 50 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65476069 65476069 + Silent SNP T T C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chrX:65476069T>C ENST00000519389.1 + 17 3134 c.2955T>C c.(2953-2955)aaT>aaC p.N985N HEPH_ENST00000419594.1_Silent_p.N742N|HEPH_ENST00000441993.2_Silent_p.N934N|HEPH_ENST00000374727.3_Silent_p.N934N|HEPH_ENST00000336279.5_Silent_p.N664N|HEPH_ENST00000343002.2_Silent_p.N931N Q9BQS7 HEPH_HUMAN hephaestin 931 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TTGATGAAAATAAGTCTTGGT 0.463000 38 9 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35697824 35697824 + Silent SNP A A C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr5:35697824A>C ENST00000440995.2 + 15 2055 c.2055A>C c.(2053-2055)tcA>tcC p.S685S CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.S690S|SPEF2_ENST00000509059.1_Silent_p.S685S Q9C093 SPEF2_HUMAN sperm flagellar 2 690 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTGCAAAATCAGAACAGTTGC 0.373000 18 18 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55405955 55405955 + Missense_Mutation SNP T T C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr11:55405955T>C ENST00000314612.2 + 1 122 c.122T>C c.(121-123)tTa>tCa p.L41S NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 ATGGGAAACTTACTCATAATG 0.383000 43 74 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087766 47087766 + Missense_Mutation SNP A A C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr10:47087766A>C ENST00000374312.1 + 3 1402 c.983A>C c.(982-984)aAc>aCc p.N328T NPY4R_ENST00000395716.1_Missense_Mutation_p.N328T NM_005972.4 NP_005963.4 neuropeptide Y receptor Y4 CTCAACACCAACTTCAAGAAG 0.562000 7 38 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6189110 6189110 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:6189110C>T ENST00000262450.3 - 23 3506 c.3407G>A c.(3406-3408)cGc>cAc p.R1136H CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1136 Helicase C-terminal. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTGGCCGATGCGGTGGGCGCG 0.632000 8 32 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44397565 44397565 + Missense_Mutation SNP A A G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:44397565A>G ENST00000371477.3 + 14 2308 c.2009A>G c.(2008-2010)tAt>tGt p.Y670C NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 670 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding p.Y670C(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CAAGTTTTATATCTTCCTGGG 0.448000 37 41 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95072892 95072892 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr10:95072892G>A ENST00000371501.4 - 51 5896 c.5774C>T c.(5773-5775)cCg>cTg p.P1925L MYOF_ENST00000371502.4_Missense_Mutation_p.P1915L|MYOF_ENST00000358334.5_Missense_Mutation_p.P1912L|MYOF_ENST00000359263.4_Missense_Mutation_p.P1925L Q9NZM1 MYOF_HUMAN myoferlin 1925 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTTGAGGTCCGGAATCATGTC 0.483000 86 74 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99690436 99690436 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr11:99690436G>A ENST00000524871.1 + 4 507 c.217G>A c.(217-219)Gct>Act p.A73T CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.A73T|CNTN5_ENST00000527185.1_Missense_Mutation_p.A73T|CNTN5_ENST00000279463.3_Missense_Mutation_p.A73T NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 73 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GCTAGGGGCAGCTCAGAATTA 0.438000 10 20 0 0 1 0 0 FAR2 55711 broad.mit.edu 37 12 29469826 29469826 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:29469826G>A ENST00000536681.3 + 9 1254 c.1008G>A c.(1006-1008)agG>agA p.R336R FAR2_ENST00000547116.1_Silent_p.R239R|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Silent_p.R336R NM_001271783.1|NM_001271784.1 NP_001258712.1|NP_001258713.1 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 GACCTTTCAGGAGGCCAAATG 0.463000 76 115 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766725 171766725 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr5:171766725C>T ENST00000311601.5 - 13 1554 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 462 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCCGTGGCTTCGCTGCCCGTG 0.652000 10 25 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 6903530 6903530 + Missense_Mutation SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr3:6903530G>T ENST00000486284.1 + 1 729 c.455G>T c.(454-456)gGa>gTa p.G152V GRM7_ENST00000357716.4_Missense_Mutation_p.G152V|GRM7_ENST00000389336.4_Missense_Mutation_p.G152V|GRM7_ENST00000402647.2_Missense_Mutation_p.G152V|GRM7_ENST00000403881.1_Missense_Mutation_p.G152V NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 152 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AAAGTAGTTGGAGTGATTGGG 0.602000 33 50 1.06647e-15 1.16057e-15 1 1 0 UGT2B17 7367 broad.mit.edu 37 4 69403585 69403585 + Missense_Mutation SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr4:69403585G>C ENST00000317746.2 - 6 1393 c.1351C>G c.(1351-1353)Cat>Gat p.H451D NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 451 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 GGTTGATCATGATGAATTCTT 0.393000 61 106 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56335035 56335035 + Splice_Site SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:56335035G>A ENST00000331886.5 + 14 1555 c.e14-1 DGKA_ENST00000549079.2_Splice_Site|DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) CCCCAATGCAGATTGACCCTG 0.493000 47 163 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10951349 10951349 + Silent SNP A A G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr21:10951349A>G ENST00000298232.7 - 9 676 c.309T>C c.(307-309)taT>taC p.Y103Y TPTE_ENST00000361285.4_Silent_p.Y121Y|TPTE_ENST00000342420.5_Silent_p.Y83Y|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 121 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCAAAGGAATATAAAGTTTGC 0.323000 18 120 0 0 1 0 0 MYC 4609 broad.mit.edu 37 8 128751084 128751084 + Silent SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr8:128751084G>T ENST00000377970.2 + 2 1131 c.621G>T c.(619-621)tcG>tcT p.S207S MYC_ENST00000524013.1_Silent_p.S206S|MYC_ENST00000259523.6_Silent_p.S192S NM_002467.4 NP_002458 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 192 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) TCGACCCCTCGGTGGTCTTCC 0.667000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 26 7.87624e-14 8.37417e-14 1 1 0 ART1 417 broad.mit.edu 37 11 3685343 3685343 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr11:3685343C>G ENST00000250693.1 + 5 1009 c.908C>G c.(907-909)tCt>tGt p.S303C NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 303 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) AGCCCCCTCTCTGCAGTCTGG 0.562000 38 51 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22233087 22233087 + Missense_Mutation SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr7:22233087G>C ENST00000401957.2 - 1 440 c.193C>G c.(193-195)Ctg>Gtg p.L65V RAPGEF5_ENST00000344041.6_Intron|RAPGEF5_ENST00000475788.1_Intron|RAPGEF5_ENST00000405243.1_3'UTR Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 65 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCAGAGAGCAGAGAGTCCACT 0.512000 4 5 0 0 1 0 0 NDC80 10403 broad.mit.edu 37 18 2601415 2601415 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr18:2601415G>A ENST00000261597.4 + 13 1577 c.1395G>A c.(1393-1395)ctG>ctA p.L465L NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 465 Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 AGGAACTCCTGAATGAAACTG 0.299000 15 28 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105174887 105174887 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr10:105174887C>G ENST00000369797.3 + 12 1591 c.1497C>G c.(1495-1497)atC>atG p.I499M NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 499 S1 motif 5. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AGTACCACATCGGGGATGAGG 0.542000 7 32 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47311142 47311142 + Missense_Mutation SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr14:47311142G>C ENST00000426342.1 - 17 2922 c.2176C>G c.(2176-2178)Cga>Gga p.R726G MDGA2_ENST00000439988.3_Missense_Mutation_p.R1024G|MDGA2_ENST00000399222.3_Missense_Mutation_p.R157G|MDGA2_ENST00000399232.2_Missense_Mutation_p.R955G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R726G NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 955 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GGTCACCTTCGAGGACTTAAG 0.388000 6 22 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59466098 59466098 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr15:59466098C>G ENST00000288235.4 - 21 2580 c.2181G>C c.(2179-2181)ttG>ttC p.L727F NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 727 actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CCTTCTTGTTCAATAAGAGGT 0.418000 55 75 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 7 20 0 0 1 0 0 PTBP3 9991 broad.mit.edu 37 9 114993695 114993695 + Splice_Site SNP T T G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr9:114993695T>G ENST00000334318.6 - 11 1300 c.e11-2 PTBP3_ENST00000374257.1_Splice_Site|PTBP3_ENST00000374255.2_Splice_Site|PTBP3_ENST00000343327.2_Splice_Site|PTBP3_ENST00000458258.1_Splice_Site NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding TGTGATAAGCTGTAAAGGGTA 0.289000 25 12 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46231478 46231478 + Nonsense_Mutation SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:46231478G>T ENST00000334344.6 + 10 1490 c.1318G>T c.(1318-1320)Gaa>Taa p.E440* ARID2_ENST00000444670.1_Nonsense_Mutation_p.E69*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.E291* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 440 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGCAAAAGTAGAAAAGAGCAT 0.358000 """N, S, F""" hepatocellular carcinoma 19 38 8.00594e-06 8.22833e-06 1 1 0 ERBB2 2064 broad.mit.edu 37 17 37879658 37879658 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr17:37879658G>A ENST00000406381.2 + 19 2453 c.1943G>A c.(1942-1944)cGg>cAg p.R648Q ERBB2_ENST00000584450.1_Missense_Mutation_p.R678Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R402Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R678Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R663Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R648Q NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 678 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ATCAAGCGACGGCAGCAGAAG 0.637000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 1777 9 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50740961 50740961 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr10:50740961C>T ENST00000355832.5 - 2 128 c.50G>A c.(49-51)tGt>tAt p.C17Y ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.C17Y|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.C17Y|PGBD3_ENST00000603152.1_Missense_Mutation_p.C17Y NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 17 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 ACTCTGTAAACAGTCTTGCTC 0.418000 Direct reversal of damage;Nucleotide excision repair (NER) 9 28 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121541 27121541 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:27121541G>A ENST00000288699.6 + 2 332 c.174G>A c.(172-174)gtG>gtA p.V58V DPYSL5_ENST00000401478.1_Silent_p.V58V NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 58 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAAACTGGTGATCCCTGGTG 0.572000 11 22 0 0 1 0 0 TUBA3D 113457 broad.mit.edu 37 2 132240410 132240410 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:132240410G>A ENST00000321253.6 + 5 1449 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 448 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) TGAAGAAGGCGAAGAATACTG 0.552000 43 88 0 0 1 0 0 RBM39 9584 broad.mit.edu 37 20 34302299 34302299 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr20:34302299C>T ENST00000361162.6 - 11 1288 c.904G>A c.(904-906)Gaa>Aaa p.E302K RBM39_ENST00000528062.3_Missense_Mutation_p.E280K|RBM39_ENST00000253363.6_Missense_Mutation_p.E302K|RBM39_ENST00000407261.4_Missense_Mutation_p.E145K NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 302 Activating domain (By similarity).|Interaction with JUN (By similarity).|RRM 2. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) TTGGCACATTCTGAGTCAGAA 0.353000 3 51 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563741 140563741 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr5:140563741G>A ENST00000361016.2 + 1 2762 c.1607G>A c.(1606-1608)cGc>cAc p.R536H NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 536 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCACAGACCGCGGCTCCCCG 0.672000 22 35 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83848138 83848138 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:83848138C>T ENST00000349129.2 + 21 4637 c.4377C>T c.(4375-4377)ctC>ctT p.L1459L DOPEY1_ENST00000369739.3_Silent_p.L1450L|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.L1440L NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1459 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTATTTCTCTCTGCTTATATT 0.363000 43 61 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102901471 102901471 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr14:102901471G>A ENST00000359520.7 + 9 2543 c.2317G>A c.(2317-2319)Gag>Aag p.E773K TECPR2_ENST00000558678.1_Missense_Mutation_p.E773K NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 773 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GAGTGTGACAGAGCTCGGACC 0.607000 16 32 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33768152 33768152 + Nonsense_Mutation SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr17:33768152G>C ENST00000285013.6 - 6 2431 c.2156C>G c.(2155-2157)tCa>tGa p.S719* SLFN13_ENST00000542635.1_Nonsense_Mutation_p.S719*|SLFN13_ENST00000533791.1_Nonsense_Mutation_p.S719*|SLFN13_ENST00000534689.1_Nonsense_Mutation_p.S401*|SLFN13_ENST00000526861.1_Nonsense_Mutation_p.S719*|SLFN13_ENST00000360502.2_Nonsense_Mutation_p.S401* NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 719 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ATACTGTGCTGAGAGAGGGGG 0.448000 126 36 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53218948 53218948 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr3:53218948C>G ENST00000394729.2 + 9 1174 c.846C>G c.(844-846)atC>atG p.I282M PRKCD_ENST00000330452.3_Missense_Mutation_p.I282M NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 282 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) TCTGCGGCATCAACCAGAAGC 0.607000 35 24 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47574247 47574247 + Splice_Site SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr4:47574247G>A ENST00000273859.3 + 17 3509 c.3240G>A c.(3238-3240)caG>caA p.Q1080Q NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1080 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 AAGGCATGCAGGTGAGTGGAT 0.498000 22 38 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72840411 72840411 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr17:72840411C>G ENST00000347612.4 - 12 2688 c.2587G>C c.(2587-2589)Ggt>Cgt p.G863R GRIN2C_ENST00000293190.5_Intron NM_001278553.1 NP_001265482.1 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 0 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GGGTGGGCACCCACCCTGCTG 0.602000 21 7 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776536 77776536 + Missense_Mutation SNP T T A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr8:77776536T>A ENST00000521891.2 + 11 11034 c.10586T>A c.(10585-10587)aTc>aAc p.I3529N ZFHX4_ENST00000455469.2_Missense_Mutation_p.I3484N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I3503N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I3480N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3480 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGGCCTAATATCCTTTTCCAA 0.493000 HNSCC(33;0.089) 24 48 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr17:7578394T>C ENST00000420246.2 - 5 668 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642000 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) 46 15 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113697058 113697058 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr3:113697058C>T ENST00000295878.3 - 16 2727 c.2581G>A c.(2581-2583)Gag>Aag p.E861K NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 861 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCTGCAATCTCATGCTTGCCC 0.413000 26 64 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196386910 196386910 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr3:196386910G>A ENST00000328557.4 + 3 599 c.396G>A c.(394-396)ccG>ccA p.P132P NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species ACGCCCTGCCGGGCCTGCGGA 0.672000 4 12 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22364165 22364165 + Silent SNP A A G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:22364165A>G ENST00000397121.2 - 3 671 c.354T>C c.(352-354)taT>taC p.Y118Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AGACGTTTGCATATTTGCCAC 0.333000 50 83 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131799409 131799409 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:131799409C>T ENST00000392953.3 + 10 1878 c.1359C>T c.(1357-1359)gcC>gcT p.A453A ARHGEF4_ENST00000326016.5_Silent_p.A453A|ARHGEF4_ENST00000525839.1_Silent_p.A453A|ARHGEF4_ENST00000355771.3_Silent_p.A382A|ARHGEF4_ENST00000409303.1_Silent_p.A393A|ARHGEF4_ENST00000428230.2_Intron NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 453 DH. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) ATGTTGAAGCCGCCTTGCATG 0.572000 22 57 0 0 1 0 0 NARS2 79731 broad.mit.edu 37 11 78204153 78204153 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr11:78204153C>T ENST00000281038.5 - 7 1153 c.778G>A c.(778-780)Gaa>Aaa p.E260K NARS2_ENST00000528850.1_Missense_Mutation_p.E33K NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 260 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) ATCTCTGCTTCTATCATATAA 0.398000 30 59 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12821493 12821493 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:12821493G>A ENST00000425528.1 - 13 1569 c.1212C>T c.(1210-1212)ttC>ttT p.F404F TNPO2_ENST00000592287.1_Silent_p.F404F|TNPO2_ENST00000441499.1_Silent_p.F404F|TNPO2_ENST00000356861.5_Silent_p.F404F|TNPO2_ENST00000450764.2_Silent_p.F404F|TNPO2_ENST00000588216.1_Silent_p.F404F O14787 TNPO2_HUMAN transportin 2 404 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ACTCGGGGTGGAAGAGGAGGC 0.632000 10 8 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075521 76075521 + RNA SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr15:76075521G>A ENST00000395215.3 + 0 1161 gagaggctgcgaaagcaggaa 0.607000 4 203 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28602409 28602409 + Missense_Mutation SNP G G A rs149148363 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr18:28602409G>A ENST00000434452.1 - 7 989 c.835C>T c.(835-837)Cgc>Tgc p.R279C DSC3_ENST00000360428.4_Missense_Mutation_p.R279C NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 279 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TATTTCAGGCGCGTATGCATT 0.448000 5 89 0 0 1 0 0 SPACA7 122258 broad.mit.edu 37 13 113086762 113086762 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr13:113086762G>A ENST00000375699.3 + 5 529 c.357G>A c.(355-357)aaG>aaA p.K119K SPACA7_ENST00000283550.3_Silent_p.K150K Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 150 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 CCACAGAAAAGAATTCAAAGA 0.353000 24 44 0 0 1 0 0 TBX1 6899 broad.mit.edu 37 22 19754183 19754183 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr22:19754183C>T ENST00000332710.4 + 9 1410 c.1281C>T c.(1279-1281)ctC>ctT p.L427L TBX1_ENST00000359500.3_Intron|TBX1_ENST00000329705.7_Intron NM_080647.1 NP_542378.1 O43435 TBX1_HUMAN T-box 1 55 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) ACCACTATCTCGGGGCCAAGA 0.736000 5 4 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227872241 227872241 + Missense_Mutation SNP C C G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:227872241C>G ENST00000396625.3 - 48 5080 c.4873G>C c.(4873-4875)Gat>Cat p.D1625H COL4A4_ENST00000329662.7_Missense_Mutation_p.D1622H NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1625 Collagen IV NC1. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCTCTGAAATCTTCCAGGCAG 0.532000 37 24 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87457449 87457449 + Silent SNP T T C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr16:87457449T>C ENST00000268616.4 - 4 613 c.396A>G c.(394-396)aaA>aaG p.K132K NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 132 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) CAGAGGAAGATTTGGTTACTG 0.378000 37 102 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27997889 27997889 + Missense_Mutation SNP T T A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chrX:27997889T>A ENST00000441525.1 - 1 1677 c.1563A>T c.(1561-1563)ttA>ttT p.L521F NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 521 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 TCACATCTTTTAACCCAGTAA 0.498000 39 6 0 0 1 0 0 FAR2 55711 broad.mit.edu 37 12 29469786 29469786 + Missense_Mutation SNP T T C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:29469786T>C ENST00000536681.3 + 9 1214 c.968T>C c.(967-969)tTg>tCg p.L323S FAR2_ENST00000547116.1_Missense_Mutation_p.L226S|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Missense_Mutation_p.L323S NM_001271783.1|NM_001271784.1 NP_001258712.1|NP_001258713.1 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 GTCCAAGTCTTGGCAACCTTT 0.413000 59 93 0 0 1 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58007281 58007281 + Missense_Mutation SNP A A C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:58007281A>C ENST00000286494.4 + 4 927 c.467A>C c.(466-468)aAg>aCg p.K156T AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K195T|AC025165.8_ENST00000356672.3_RNA NM_182947.3 NP_891992 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 156 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 CAGAAGAAGAAGGCTCTGGAA 0.507000 25 36 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108158680 108158680 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr3:108158680C>T ENST00000273353.3 - 25 3095 c.3039G>A c.(3037-3039)gaG>gaA p.E1013E NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1013 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCTGATGGGCCTCCTGCACAA 0.493000 21 93 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233399030 233399030 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:233399030G>A ENST00000258385.3 + 11 1381 c.1349G>A c.(1348-1350)aGg>aAg p.R450K CHRND_ENST00000457943.2_Missense_Mutation_p.R256K|CHRND_ENST00000543200.1_Missense_Mutation_p.R435K NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 450 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) AACCACATGAGGGACCAGAAC 0.507000 16 11 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36170642 36170642 + Silent SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr9:36170642C>T ENST00000335119.2 + 1 1254 c.1143C>T c.(1141-1143)ggC>ggT p.G381G NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 381 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) ACTCAGTGGGCGGGAGCATTG 0.562000 17 66 0 0 1 0 0 NOP14 8602 broad.mit.edu 37 4 2955357 2955357 + Missense_Mutation SNP G G C TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr4:2955357G>C ENST00000416614.2 - 5 693 c.628C>G c.(628-630)Caa>Gaa p.Q210E NOP14_ENST00000314262.6_Missense_Mutation_p.Q210E|NOP14_ENST00000502735.1_Missense_Mutation_p.Q210E|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.Q210E P78316 NOP14_HUMAN NOP14 nucleolar protein 210 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 TCTTCTCGTTGAGCTTGTCTC 0.498000 61 107 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97784073 97784073 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr7:97784073C>T ENST00000297293.5 + 5 747 c.454C>T c.(454-456)Ctc>Ttc p.L152F NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 152 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) ATTTTAGGTTCTCTTGGGAGA 0.393000 55 73 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55648012 55648012 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr14:55648012C>T ENST00000247191.2 - 5 715 c.499G>A c.(499-501)Gat>Aat p.D167N DLGAP5_ENST00000395425.2_Missense_Mutation_p.D167N NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 167 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 CTCTCGTTATCAATCTATTTA 0.328000 23 40 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49644691 49644691 + Missense_Mutation SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:49644691G>T ENST00000334186.4 + 19 2732 c.2383G>T c.(2383-2385)Gat>Tat p.D795Y PPFIA3_ENST00000602351.1_Missense_Mutation_p.D795Y NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 795 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) AACACCCTCAGATGAGACACT 0.552000 11 34 1.58986e-06 1.64316e-06 1 1 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 4 27 0 0 1 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58007280 58007280 + Missense_Mutation SNP A A G TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:58007280A>G ENST00000286494.4 + 4 926 c.466A>G c.(466-468)Aag>Gag p.K156E AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K195E|AC025165.8_ENST00000356672.3_RNA NM_182947.3 NP_891992 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 156 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 ACAGAAGAAGAAGGCTCTGGA 0.502000 25 36 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7568220 7568220 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr16:7568220G>A ENST00000340209.4 + 2 411 c.114G>A c.(112-114)ccG>ccA p.P38P RBFOX1_ENST00000553186.1_Silent_p.P33P|RBFOX1_ENST00000355637.4_Silent_p.P53P|RBFOX1_ENST00000311745.5_Silent_p.P53P|RBFOX1_ENST00000436368.2_Silent_p.P53P|RBFOX1_ENST00000547372.1_Silent_p.P76P|RBFOX1_ENST00000547338.1_Silent_p.P33P|RBFOX1_ENST00000552089.1_Silent_p.P69P|RBFOX1_ENST00000422070.4_Silent_p.P76P|RBFOX1_ENST00000550418.1_Silent_p.P33P|RBFOX1_ENST00000535565.2_Silent_p.P69P Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 33 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TTGCTCCCCCGCAGAACGGTA 0.592000 25 94 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50532043 50532043 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr10:50532043G>A ENST00000374144.3 + 3 1741 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K C10orf71_ENST00000323868.4_Missense_Mutation_p.E485K Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 485 endometrium(1) 1 GGAGCCCAGTGAATGTCAGTC 0.562000 4 23 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196825651 196825651 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:196825651C>T ENST00000312428.6 - 18 2324 c.2224G>A c.(2224-2226)Gaa>Aaa p.E742K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 742 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GCTTCCTCTTCAGCATTAAAC 0.318000 20 38 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 905524 905524 + Missense_Mutation SNP T T C rs138465573 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr4:905524T>C ENST00000314167.4 - 4 429 c.319A>G c.(319-321)Ata>Gta p.I107V GAK_ENST00000511163.1_Intron NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 107 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) TCTTTTCCTATAGACGCTGCA 0.498000 12 78 0 0 1 0 0 TERF2IP 54386 broad.mit.edu 37 16 75681786 75681786 + Silent SNP G G T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr16:75681786G>T ENST00000300086.4 + 1 103 c.6G>T c.(4-6)gcG>gcT p.A2A NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 2 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 CAGACATGGCGGAGGCGATGG 0.627000 19 49 2.27731e-05 2.32763e-05 1 1 0 DCAF5 8816 broad.mit.edu 37 14 69583208 69583208 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr14:69583208G>A ENST00000341516.5 - 5 687 c.540C>T c.(538-540)ccC>ccT p.P180P DCAF5_ENST00000554215.1_Silent_p.P98P|DCAF5_ENST00000556847.1_Silent_p.P98P|DCAF5_ENST00000389997.6_Silent_p.P180P|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Silent_p.P179P NM_001284206.1|NM_001284207.1|NM_003861.2 NP_001271135.1|NP_001271136.1|NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 180 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 CCAGGCAGAAGGGCTCTGTGG 0.488000 37 40 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58302944 58302944 + Silent SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr15:58302944G>A ENST00000249750.4 - 4 1163 c.396C>T c.(394-396)ttC>ttT p.F132F ALDH1A2_ENST00000347587.3_Silent_p.F132F|ALDH1A2_ENST00000558231.1_Silent_p.F103F|ALDH1A2_ENST00000537372.1_Silent_p.F111F|ALDH1A2_ENST00000559517.1_Silent_p.F36F NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 132 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) AAGCTTGCAGGAATGGTTTGC 0.438000 36 35 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810789 106810789 + Silent SNP G G A rs144052450 by1000genomes TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr11:106810789G>A ENST00000526355.2 - 4 1071 c.603C>T c.(601-603)aaC>aaT p.N201N GUCY1A2_ENST00000282249.2_Silent_p.N201N|GUCY1A2_ENST00000347596.2_Silent_p.N201N NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CATCAAAGCCGTTAAAAAAGT 0.403000 30 51 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 108970470 108970470 + Nonsense_Mutation SNP C C A rs140125293 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr8:108970470C>A ENST00000276659.5 - 5 1074 c.454G>T c.(454-456)Gaa>Taa p.E152* RSPO2_ENST00000517781.1_Nonsense_Mutation_p.E88*|RSPO2_ENST00000378439.2_Nonsense_Mutation_p.E88*|RSPO2_ENST00000517939.1_Nonsense_Mutation_p.E85* NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 152 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) GTTCCCCATTCGCTCCAATGA 0.368000 44 59 6.48837e-15 6.93843e-15 1 1 0 CAMSAP3 57662 broad.mit.edu 37 19 7677214 7677214 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:7677214G>A ENST00000446248.2 + 13 2017 c.1916G>A c.(1915-1917)aGa>aAa p.R639K CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R612K NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 612 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GAGAAACGCAGAGCCATCGAG 0.692000 7 6 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8211970 8211970 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr12:8211970C>T ENST00000307637.4 - 2 1015 c.812G>A c.(811-813)aGt>aAt p.S271N NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 271 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) AGGAAACCCACTGGGGATTTT 0.428000 25 34 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53529869 53529869 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr14:53529869G>A ENST00000357758.3 - 7 1741 c.1558C>T c.(1558-1560)Cgg>Tgg p.R520W DDHD1_ENST00000323669.5_Missense_Mutation_p.R520W|DDHD1_ENST00000395606.1_Missense_Mutation_p.R527W NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 520 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) TCTGGATTCCGAGAACAGAAA 0.373000 35 65 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103605 53103605 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr7:53103605C>T ENST00000408890.4 + 1 257 c.241C>T c.(241-243)Cgg>Tgg p.R81W NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 81 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CATCGAGGTGCGGCCCACCCA 0.711000 8 13 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88876210 88876210 + Missense_Mutation SNP C C A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr2:88876210C>A ENST00000303236.3 - 12 2199 c.1898G>T c.(1897-1899)cGg>cTg p.R633L EIF2AK3_ENST00000419748.1_Missense_Mutation_p.R482L NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 633 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TACCTTTTCCCGAGCCAATTC 0.393000 19 44 8.10497e-08 8.42371e-08 1 1 0 PCLO 27445 broad.mit.edu 37 7 82430882 82430882 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr7:82430882C>T ENST00000333891.9 - 22 15296 c.14959G>A c.(14959-14961)Gag>Aag p.E4987K NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTACAGGCTCTTGTCCATTC 0.353000 11 22 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38183175 38183175 + Missense_Mutation SNP C C G rs138072890 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr17:38183175C>G ENST00000394126.1 - 16 2136 c.1718G>C c.(1717-1719)cGc>cCc p.R573P MED24_ENST00000501516.3_Missense_Mutation_p.R567P|MED24_ENST00000394128.2_Missense_Mutation_p.R548P|MED24_ENST00000394127.2_Missense_Mutation_p.R535P|MED24_ENST00000356271.3_Missense_Mutation_p.R535P O75448 MED24_HUMAN mediator complex subunit 24 548 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) GGAGTCGGGGCGGAAGCAGGG 0.637000 OREG0024386 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 8 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9036073 9036073 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr3:9036073C>T ENST00000383836.3 - 19 2789 c.2362G>A c.(2362-2364)Ggc>Agc p.G788S SRGAP3_ENST00000360413.3_Missense_Mutation_p.G764S NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 788 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCATCCACGCCGTTGTGCCGG 0.572000 T RAF1 pilocytic astrocytoma 70 61 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154302887 154302887 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:154302887C>T ENST00000368489.3 + 3 146 c.146C>T c.(145-147)gCg>gTg p.A49V ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.A16V|ATP8B2_ENST00000341822.2_Missense_Mutation_p.A35V NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 35 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GAAAGGAGGGCGCGGGCTAAT 0.507000 18 34 0 0 1 0 0 TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tctfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 11 367 --- --- --- --- SENP7 57337 broad.mit.edu 37 3 101062549 101062549 + Frame_Shift_Del DEL T T - TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr3:101062549delT ENST00000394095.2 - 14 2140 c.2087delA c.(2086-2088)aagfs p.K696fs SENP7_ENST00000394091.1_Frame_Shift_Del_p.K532fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.K532fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.K663fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.K630fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.K631fs NM_001282802.1|NM_020654.3 NP_001269731.1|NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 696 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGATTTCAGCTTCATTTCTTC 0.348 18 76 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2698176 2698177 + Frame_Shift_Ins INS - - A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr4:2698176_2698177insA ENST00000324666.5 + 16 2841_2842 c.2490_2491insA c.(2491-2493)aaafs p.K831fs FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.K831fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.K831fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.K831fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.K853fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 831 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 AGGAGCAACCTAAAAAAATGGA 0.455 19 46 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77617547 77617547 + Frame_Shift_Del DEL G G - rs13250763 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr8:77617547delG ENST00000521891.2 + 2 1672 c.1224delG c.(1222-1224)ctgfs p.L408fs ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.L408fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.L408fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.L408fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 408 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAGTGAATCTGGGGGGGCTGT 0.537 HNSCC(33;0.089) 20 48 --- --- --- --- OR6M1 390261 broad.mit.edu 37 11 123677024 123677024 + Frame_Shift_Del DEL G G - TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr11:123677024delG ENST00000309154.2 - 1 71 c.34delC c.(34-36)ctafs p.L12fs NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) AAGGCAATTAGGGTGATTTCA 0.433 21 24 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)tttfs p.F161fs TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 7 73 --- --- --- --- PDXDC2P 283970 broad.mit.edu 37 16 70066043 70066043 + RNA DEL A A - TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr16:70066043delA ENST00000531894.1 - 0 751 NR_003610.1 AGCCAAGCCGAAAAAAAAAAA 0.289 3 4 --- --- --- --- FTL 2512 broad.mit.edu 37 19 49469902 49469927 + Frame_Shift_Del DEL TGACCACCTGACCAACCTCCACAGGC TGACCACCTGACCAACCTCCACAGGC - rs11553216 TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr19:49469902_49469927delTGACCACCTGACCAACCTCCACAGGC ENST00000331825.6 + 4 645_670 c.438_463delTGACCACCTGACCAACCTCCACAGGC c.(436-465)ggtgaccacctgaccaacctccacaggctgfs p.DHLTNLHRL147fs NM_000146.3 NP_000137.2 P02792 FRIL_HUMAN ferritin, light polypeptide 147 Ferritin-like diiron. cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity cervix(1)|kidney(3)|lung(5) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) AGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCC 0.549 23 134 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16492139 16492140 + Frame_Shift_Ins INS - - TCTC TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chr20:16492139_16492140insTCTC ENST00000354981.2 - 6 636_637 c.479_480insGAGA c.(478-480)gatfs p.D160fs KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.D160fs|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.D160fs NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 160 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GCCGAAGTAGATCTCTCACACG 0.342 34 61 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44913145 44913146 + Frame_Shift_Ins INS - - AA TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chrX:44913145_44913146insAA ENST00000377967.4 + 10 861_862 c.820_821insAA c.(820-822)caafs p.Q274fs KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.Q274fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.Q274fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.Q274fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 274 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(4) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TCAGTATCTCCAAAAGTCCTTG 0.396 """D, N, F, S""" """renal, oesophageal SCC, MM""" 43 21 --- --- --- --- ALAS2 212 broad.mit.edu 37 X 55041321 55041321 + Frame_Shift_Del DEL T T - TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df8db50-dc99-4352-adcc-2312939c1867 7da205bf-a60a-4b7f-8da5-3017095ced6f g.chrX:55041321delT ENST00000330807.5 - 9 1433 c.1296delA c.(1294-1296)ctafs p.L432fs ALAS2_ENST00000396198.3_Frame_Shift_Del_p.L419fs|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Frame_Shift_Del_p.L395fs NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 432 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GCACAGATTCTAGAGCTCCAG 0.602 2 4 --- --- --- ---