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 CBFA2T3 863 broad.mit.edu 37 16 88958895 88958895 + Splice_Site SNP T T G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr16:88958895T>G ENST00000268679.4 - 4 776 c.e4-2 CBFA2T3_ENST00000448839.1_Splice_Site|CBFA2T3_ENST00000360302.2_Splice_Site|CBFA2T3_ENST00000327483.5_Splice_Site|CBFA2T3_ENST00000436887.2_Splice_Site NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) CGTTCATCACTGCAGGAGGGA 0.587000 T RUNX1 AML 19 43 0 0 1 0 0 SNRPD2 6633 broad.mit.edu 37 19 46191818 46191818 + Silent SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:46191818G>T ENST00000342669.3 - 2 453 c.9C>A c.(7-9)ctC>ctA p.L3L SNRPD2_ENST00000587367.1_5'UTR|SNRPD2_ENST00000391932.3_5'UTR|SNRPD2_ENST00000588599.1_5'UTR|SNRPD2_ENST00000590212.1_Silent_p.L3L|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000588301.1_Silent_p.L3L NM_004597.5 NP_004588.1 P62316 SMD2_HUMAN small nuclear ribonucleoprotein D2 polypeptide 16.5kDa 3 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding breast(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) GCTTGTTGAGGAGGCTCCTGC 0.542000 34 51 3.76114e-14 4.14961e-14 1 1 0 PML 5371 broad.mit.edu 37 15 74336846 74336846 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr15:74336846G>A ENST00000565898.1 + 8 2086 c.2002G>A c.(2002-2004)Gag>Aag p.E668K PML_ENST00000268058.3_Missense_Mutation_p.E716K P29590 PML_HUMAN promyelocytic leukemia 716 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 TCTCATCCGGGAGCGTGTGCC 0.637000 T """RARA, PAX5""" """APL, ALL""" 16 40 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602447 10602447 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:10602447C>T ENST00000171111.5 - 3 1678 c.1131G>A c.(1129-1131)gtG>gtA p.V377V KEAP1_ENST00000393623.2_Silent_p.V377V NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TCCTGCCGCCCACGGCGTACA 0.692000 3 6 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.470A>G c.(469-471)cAt>cGt p.H157R AGAP10_ENST00000452145.2_Splice_Site_p.H132R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 4 82 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22846919 22846919 + Missense_Mutation SNP T T A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:22846919T>A ENST00000456783.2 + 4 692 c.448T>A c.(448-450)Ttt>Att p.F150I NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TGAAAAGTCATTTTGCATGCT 0.313000 9 14 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90406179 90406179 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr6:90406179G>A ENST00000369393.3 - 60 9398 c.9283C>T c.(9283-9285)Cac>Tac p.H3095Y MDN1_ENST00000428876.1_Missense_Mutation_p.H3095Y Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3095 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGGGTCACGTGAGAGGAGGAA 0.498000 16 21 0 0 1 0 0 SLC10A5 347051 broad.mit.edu 37 8 82606749 82606749 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:82606749C>T ENST00000518568.1 - 1 1660 c.459G>A c.(457-459)ttG>ttA p.L153L NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 153 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CACACTTATTCAATAGTATTA 0.353000 22 55 0 0 1 0 0 TRAPPC3 27095 broad.mit.edu 37 1 36605707 36605707 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:36605707C>T ENST00000373166.3 - 2 193 c.103G>A c.(103-105)Gaa>Aaa p.E35K TRAPPC3_ENST00000373163.1_5'UTR|TRAPPC3_ENST00000373159.1_Missense_Mutation_p.E35K|TRAPPC3_ENST00000373162.1_5'UTR|TRAPPC3_ENST00000462715.1_5'UTR NM_001270894.1|NM_014408.4 NP_001257823.1|NP_055223.1 O43617 TPPC3_HUMAN trafficking protein particle complex 3 35 endoplasmic reticulum guanylate cyclase activity|heme binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Myeloproliferative disorder(586;0.0393) TCATCATTTTCATAGTCCTTA 0.473000 6 18 0 0 1 0 0 TLX1 3195 broad.mit.edu 37 10 102896499 102896499 + Silent SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr10:102896499C>A ENST00000370196.6 + 3 2864 c.822C>A c.(820-822)atC>atA p.I274I RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR P31314 TLX1_HUMAN T-cell leukemia homeobox 1 274 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|upper_aerodigestive_tract(1) 2 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CGAACCGCATCCTCCTGCAGT 0.662000 T """TRB@, TRD@""" T-ALL 30 54 3.73988e-18 4.22535e-18 1 1 0 PCDHA5 56143 broad.mit.edu 37 5 140201490 140201490 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr5:140201490G>A ENST00000529859.1 + 1 130 c.130G>A c.(130-132)Gtt>Att p.V44I PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V44I|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V44I|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 p.V44I(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGAACCTTCGTTGGCCGCAT 0.662000 5 78 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466330 56466330 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:56466330G>A ENST00000291971.3 + 3 977 c.906G>A c.(904-906)ctG>ctA p.L302L NLRP8_ENST00000590542.1_Silent_p.L302L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 302 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGGAGGACCTGAGTGAAGACT 0.498000 33 84 0 0 1 0 0 IFT46 56912 broad.mit.edu 37 11 118425976 118425976 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:118425976G>A ENST00000264020.2 - 6 777 c.400C>T c.(400-402)Cag>Tag p.Q134* IFT46_ENST00000530872.1_Nonsense_Mutation_p.Q134*|IFT46_ENST00000264021.3_Nonsense_Mutation_p.Q83* NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 83 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 CTGATGTACTGGAAGAGTTCC 0.493000 5 65 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36684882 36684882 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr22:36684882G>A ENST00000216181.5 - 33 4891 c.4661C>T c.(4660-4662)gCc>gTc p.A1554V NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1554 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCGCAGCTTGGCATCTTCGGT 0.632000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 9 138 0 0 1 0 0 UNC93B1 81622 broad.mit.edu 37 11 67759316 67759316 + Missense_Mutation SNP C C T rs4014596 TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:67759316C>T ENST00000227471.2 - 12 1571 c.1492G>A c.(1492-1494)Gtg>Atg p.V498M UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 499 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome p.V498M(1) ACCAGCAGCACCGCCAGCTTA 0.741000 3 8 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23406223 23406223 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr22:23406223G>A ENST00000216036.4 - 5 706 c.510C>T c.(508-510)ttC>ttT p.F170F NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 170 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) TGTCCAGGATGAACTCCTGGA 0.587000 10 34 0 0 1 0 0 TREH 11181 broad.mit.edu 37 11 118531384 118531384 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:118531384G>C ENST00000529101.1 - 10 1011 c.966C>G c.(964-966)ttC>ttG p.F322L TREH_ENST00000525958.1_Missense_Mutation_p.F291L|TREH_ENST00000264029.4_Missense_Mutation_p.F322L|TREH_ENST00000530256.1_Missense_Mutation_p.F199L|TREH_ENST00000397925.1_Missense_Mutation_p.F291L O43280 TREA_HUMAN trehalase (brush-border membrane glycoprotein) 322 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) AGCGTGAAGAGAAGTCCCAGC 0.607000 7 5 0 0 1 0 0 LIN9 286826 broad.mit.edu 37 1 226421213 226421213 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:226421213G>A ENST00000328205.5 - 13 1850 c.1305C>T c.(1303-1305)gaC>gaT p.D435D LIN9_ENST00000481685.1_Silent_p.D400D|LIN9_ENST00000366801.1_Silent_p.D384D NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 419 cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GGAGCCCCTGGTCTGGAGCAA 0.463000 28 49 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48746857 48746857 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:48746857C>T ENST00000314191.2 - 60 8105 c.8049G>A c.(8047-8049)agG>agA p.R2683R PRKDC_ENST00000338368.3_Silent_p.R2683R|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2684 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ACCTTTCACTCCTCTTGTGGG 0.532000 Non-homologous end-joining 68 153 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113518990 113518990 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:113518990G>C ENST00000297405.5 - 29 5069 c.4825C>G c.(4825-4827)Ccg>Gcg p.P1609A CSMD3_ENST00000455883.2_Missense_Mutation_p.P1505A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1609A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1569A NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1609 CUB 9. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTGCTATGCGGATATGGATGA 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 30 46 0 0 1 0 0 FUCA2 2519 broad.mit.edu 37 6 143825328 143825328 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr6:143825328C>T ENST00000002165.6 - 3 529 c.474G>A c.(472-474)aaG>aaA p.K158K RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) CAATGTCCCTCTTGGGCCCCT 0.448000 25 69 0 0 1 0 0 GABRR2 2570 broad.mit.edu 37 6 89975445 89975445 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr6:89975445C>T ENST00000402938.3 - 7 909 c.776G>A c.(775-777)cGc>cAc p.R259H GABRR2_ENST00000602399.1_Missense_Mutation_p.R284H NM_002043.3 NP_002034.3 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 284 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) GAAGATGTGGCGACGCAACGT 0.522000 12 42 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9553421 9553421 + Splice_Site SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr18:9553421C>G ENST00000400556.3 - 16 2264 c.e16-1 PPP4R1_ENST00000400555.3_Splice_Site NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TATGAAGAAGCTAAAGTAACA 0.328000 11 18 0 0 1 0 0 HPS6 79803 broad.mit.edu 37 10 103826346 103826346 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr10:103826346G>A ENST00000299238.5 + 1 1200 c.1115G>A c.(1114-1116)cGa>cAa p.R372Q NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 372 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) CTGGAGACCCGAGGGAATCTT 0.572000 Hermansky-Pudlak syndrome 27 30 0 0 1 0 0 CCNL1 57018 broad.mit.edu 37 3 156877690 156877690 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:156877690G>C ENST00000295926.3 - 1 312 c.194C>G c.(193-195)tCg>tGg p.S65W CCNL1_ENST00000461804.1_Missense_Mutation_p.S65W|CCNL1_ENST00000295925.4_Missense_Mutation_p.S65W NM_020307.2 NP_064703.1 Q9UK58 CCNL1_HUMAN cyclin L1 65 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) TGGGGTGGGCGAGAGCCTCTC 0.627000 4 5 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1097850 1097850 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:1097850G>A ENST00000441003.2 + 36 6970 c.6943G>A c.(6943-6945)Ggg>Agg p.G2315R MUC2_ENST00000361558.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4677 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CACTGTGCCCGGGGGCGGTAA 0.677000 4 16 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196674848 196674848 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:196674848G>A ENST00000412723.1 - 3 1066 c.920C>T c.(919-921)gCg>gTg p.A307V NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 307 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GCCATGTCTCGCCAGGTTTTG 0.612000 50 75 0 0 1 0 0 FAM21EP 100421577 broad.mit.edu 37 10 51818909 51818909 + RNA SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr10:51818909C>T ENST00000456967.1 - 0 1521 NR_038275.1 tcgtcatcatcatcaccatca 0.512000 16 18 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42171994 42171994 + Silent SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr15:42171994C>G ENST00000320955.6 - 15 3107 c.2880G>C c.(2878-2880)ctG>ctC p.L960L NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 960 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ATCTCTGCCTCAGTTGCTCAG 0.587000 20 59 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30047542 30047542 + Missense_Mutation SNP A A G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr14:30047542A>G ENST00000331968.5 - 17 2688 c.2459T>C c.(2458-2460)cTg>cCg p.L820P PRKD1_ENST00000415220.2_Missense_Mutation_p.L828P NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 820 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TTTTACTTGCAGCAAATTGTT 0.333000 16 33 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44384189 44384189 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:44384189C>G ENST00000587539.1 - 2 108 c.109G>C c.(109-111)Gag>Cag p.E37Q ZNF404_ENST00000324394.6_Missense_Mutation_p.E35Q NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) GTATAATTCTCCAACATCACA 0.388000 52 70 0 0 1 0 0 FZD2 2535 broad.mit.edu 37 17 42636592 42636592 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:42636592G>A ENST00000315323.3 + 1 1668 c.1536G>A c.(1534-1536)ccG>ccA p.P512P NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 512 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) ACTACACGCCGCGCATGTCGC 0.632000 11 34 0 0 1 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18497978 18497978 + Missense_Mutation SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:18497978C>A ENST00000280706.2 + 5 1437 c.640C>A c.(640-642)Ctg>Atg p.L214M TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.L214M NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 214 glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) TCTGAAGGATCTGAACCCAGA 0.423000 35 37 4.65686e-17 5.23619e-17 1 1 0 NWD1 284434 broad.mit.edu 37 19 16872917 16872917 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:16872917C>G ENST00000524140.2 + 8 2519 c.2101C>G c.(2101-2103)Ctt>Gtt p.L701V NWD1_ENST00000379808.3_Missense_Mutation_p.L701V|NWD1_ENST00000549814.1_Missense_Mutation_p.L701V|NWD1_ENST00000523826.1_Missense_Mutation_p.L495V|NWD1_ENST00000339803.6_Missense_Mutation_p.L566V|NWD1_ENST00000552788.1_Missense_Mutation_p.L701V NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 701 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CACTCTGCCACTTGTGGGGAA 0.592000 8 18 0 0 1 0 0 SRGAP2 23380 broad.mit.edu 37 1 206566199 206566199 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:206566199C>T ENST00000414007.1 + 2 220 c.220C>T c.(220-222)Cgc>Tgc p.R74C SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 214 FCH. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding p.R74C(1) NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) GGCCAACGTTCGCATTGAGGA 0.532000 4 29 0 0 1 0 0 SPSB3 90864 broad.mit.edu 37 16 1827778 1827778 + Missense_Mutation SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr16:1827778G>T ENST00000566339.1 - 6 1021 c.691C>A c.(691-693)Ctc>Atc p.L231I SPSB3_ENST00000301717.4_Missense_Mutation_p.L231I NM_080861.3 NP_543137.2 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box containing 3 231 B30.2/SPRY. intracellular signal transduction endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 AAAAAGGTGAGTGTGCCGTGC 0.627000 14 35 1.49906e-05 1.57973e-05 1 1 0 CLCN6 1185 broad.mit.edu 37 1 11883766 11883766 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:11883766G>A ENST00000346436.6 + 7 508 c.456G>A c.(454-456)ccG>ccA p.P152P CLCN6_ENST00000312413.6_Silent_p.P152P|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.P152P|CLCN6_ENST00000376487.3_Silent_p.P130P NM_001286.3 NP_001277 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 152 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCCATCAGCCGGTGGCAGCAG 0.582000 16 40 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67686219 67686219 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr16:67686219G>A ENST00000334583.6 + 27 3122 c.2794G>A c.(2794-2796)Gag>Aag p.E932K RLTPR_ENST00000545661.1_Missense_Mutation_p.E896K NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 932 Pro-rich. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTTCCCCGaggagaaggaaga 0.567000 14 26 0 0 1 0 0 PUS7 54517 broad.mit.edu 37 7 105112641 105112641 + Splice_Site SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr7:105112641C>T ENST00000356362.2 - 10 1390 c.e10-1 PUS7_ENST00000469408.1_Splice_Site NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 TAGTATAGCTCTAAAATTAAA 0.279000 28 61 0 0 1 0 0 HPS6 79803 broad.mit.edu 37 10 103827338 103827338 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr10:103827338G>A ENST00000299238.5 + 1 2192 c.2107G>A c.(2107-2109)Gag>Aag p.E703K NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 703 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGCTCCAGCTGAGCTCCTGCT 0.622000 Hermansky-Pudlak syndrome 22 45 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100654439 100654439 + Missense_Mutation SNP A A G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:100654439A>G ENST00000358544.2 + 34 5807 c.5696A>G c.(5695-5697)gAt>gGt p.D1899G VPS13B_ENST00000357162.2_Missense_Mutation_p.D1874G|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1899 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACAGCAGAAGATCTCTTAAGG 0.413000 6 136 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195794522 195794522 + Missense_Mutation SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:195794522G>T ENST00000360110.4 - 9 1076 c.907C>A c.(907-909)Ctg>Atg p.L303M TFRC_ENST00000420415.1_Missense_Mutation_p.L222M|TFRC_ENST00000392396.3_Missense_Mutation_p.L303M|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.L21M NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 303 PA. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) CCTGTCCCCAGATGAGCCTAG 0.458000 T BCL6 NHL 17 26 5.3912e-06 5.73273e-06 1 1 0 REXO1 57455 broad.mit.edu 37 19 1817250 1817250 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:1817250G>A ENST00000170168.4 - 12 3263 c.3169C>T c.(3169-3171)Cac>Tac p.H1057Y NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 1057 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCCCCGGGTGGGTGTCTCCT 0.642000 20 25 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130380682 130380682 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:130380682C>T ENST00000358511.6 + 34 6063 c.6032C>T c.(6031-6033)gCc>gTc p.A2011V COL6A6_ENST00000453409.2_Missense_Mutation_p.A2011V NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 2011 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GACCGGGTGGCCCTATTGAGC 0.502000 16 20 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144999878 144999878 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:144999878C>T ENST00000322810.4 - 31 4799 c.4630G>A c.(4630-4632)Gcg>Acg p.A1544T PLEC_ENST00000357649.2_Missense_Mutation_p.A1411T|PLEC_ENST00000436759.2_Missense_Mutation_p.A1434T|PLEC_ENST00000398774.2_Missense_Mutation_p.A1375T|PLEC_ENST00000527096.1_Missense_Mutation_p.A1430T|PLEC_ENST00000354958.2_Missense_Mutation_p.A1385T|PLEC_ENST00000356346.3_Missense_Mutation_p.A1393T|PLEC_ENST00000354589.3_Missense_Mutation_p.A1407T|PLEC_ENST00000345136.3_Missense_Mutation_p.A1407T NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1544 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCCACCGCCGCCTCCTCCCGC 0.721000 9 15 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65385688 65385688 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:65385688G>A ENST00000355703.3 + 6 1394 c.855G>A c.(853-855)cgG>cgA p.R285R NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 285 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 TTGACCGGCGGGGCTCAGGGG 0.652000 4 41 0 0 1 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84879412 84879412 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr16:84879412G>A ENST00000262424.5 + 3 485 c.261G>A c.(259-261)gaG>gaA p.E87E CRISPLD2_ENST00000567845.1_Silent_p.E87E|CRISPLD2_ENST00000564567.1_Silent_p.E87E|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000569090.1_Silent_p.E87E NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 87 extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 ACGAACTGGAGAAGTCTGCTG 0.617000 19 40 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 5 305 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139299093 139299093 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr7:139299093C>G ENST00000406875.3 - 8 2023 c.1929G>C c.(1927-1929)caG>caC p.Q643H HIPK2_ENST00000342645.6_Missense_Mutation_p.Q643H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 643 Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GGGCACAAATCTGGGCTGTTC 0.587000 14 34 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971208 21971208 + Splice_Site SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr9:21971208C>G ENST00000579755.1 - 2 486 c.e2-1 CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Splice_Site P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCATCATGACCTGCCAGAGAG 0.667000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 14 6 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471558 61471558 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr18:61471558C>G ENST00000398019.2 + 8 1157 c.832C>G c.(832-834)Cag>Gag p.Q278E SERPINB7_ENST00000540675.1_Missense_Mutation_p.Q261E|SERPINB7_ENST00000336429.2_Missense_Mutation_p.Q278E|SERPINB7_ENST00000546027.1_Missense_Mutation_p.Q278E NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 278 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ATTTTTTCCTCAGTTCAAGAT 0.358000 18 28 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838501 16838501 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:16838501G>A ENST00000355661.3 - 11 1722 c.1712C>T c.(1711-1713)tCg>tTg p.S571L PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S571L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S571L|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 571 Interaction with CTNND1.|Pro-rich. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 AGGGATGTCCGAGGGAGATGG 0.662000 25 19 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58206945 58206945 + Missense_Mutation SNP C C T rs139365126 TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:58206945C>T ENST00000302572.2 - 1 701 c.680G>A c.(679-681)cGc>cAc p.R227H NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTCAGGTGAGCGCATCTTCAT 0.403000 33 22 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60694876 60694876 + Missense_Mutation SNP T T C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:60694876T>C ENST00000005286.4 + 2 454 c.301T>C c.(301-303)Ttt>Ctt p.F101L TMEM132A_ENST00000453848.2_Missense_Mutation_p.F101L NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 101 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CTACCCACCTTTTGCCACTCA 0.632000 10 50 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45885853 45885853 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:45885853C>G ENST00000418234.2 - 12 2458 c.2380G>C c.(2380-2382)Gag>Cag p.E794Q PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E794Q NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 794 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TCGGTCTCCTCCGGCCCGTCC 0.701000 24 34 0 0 1 0 0 FADS2 9415 broad.mit.edu 37 11 61615710 61615710 + Missense_Mutation SNP T T C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:61615710T>C ENST00000278840.4 + 5 1328 c.698T>C c.(697-699)gTg>gCg p.V233A FADS2_ENST00000521849.1_Missense_Mutation_p.V233A|FADS2_ENST00000522056.1_Missense_Mutation_p.V202A|FADS2_ENST00000257261.6_Missense_Mutation_p.V211A NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 233 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) GATCCCGATGTGAACATGCTG 0.567000 43 49 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158126150 158126150 + Splice_Site SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr5:158126150G>A ENST00000313708.6 - 16 2027 c.1745C>T c.(1744-1746)gCg>gTg p.A582V EBF1_ENST00000380654.4_Splice_Site_p.A551V|EBF1_ENST00000517373.1_Splice_Site_p.A514V|EBF1_ENST00000518836.1_5'UTR NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 582 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCAGATATCGCTATGAAAGA 0.348000 T HMGA2 lipoma 12 27 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84745042 84745042 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr10:84745042G>A ENST00000372142.2 + 11 1455 c.1181G>A c.(1180-1182)gGg>gAg p.G394E NRG3_ENST00000404547.1_Missense_Mutation_p.G615E|NRG3_ENST00000404576.2_Missense_Mutation_p.G395E|NRG3_ENST00000556918.1_Missense_Mutation_p.G421E|NRG3_ENST00000537893.1_Missense_Mutation_p.G241E|NRG3_ENST00000372141.2_Missense_Mutation_p.G591E|NRG3_ENST00000545131.1_Missense_Mutation_p.G241E NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 615 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.G591E(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CAAATGCCAGGGATTTCTGAA 0.463000 33 51 0 0 1 0 0 PIGU 128869 broad.mit.edu 37 20 33173345 33173345 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr20:33173345G>C ENST00000374820.2 - 8 782 c.762C>G c.(760-762)ttC>ttG p.F254L PIGU_ENST00000452740.2_Missense_Mutation_p.F274L|PIGU_ENST00000480175.1_Intron Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 274 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 AGAAGTACCAGAAAAGACCAA 0.388000 47 69 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332594 22332594 + RNA SNP T T A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr15:22332594T>A ENST00000558896.1 + 0 401 CTATGTATTATTTTTTAGGTC 0.398000 37 166 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558512 113558512 + Silent SNP T T C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr7:113558512T>C ENST00000284601.3 - 1 608 c.540A>G c.(538-540)tcA>tcG p.S180S NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 180 CBM21. glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CACCATCACATGAATTAGGAA 0.328000 11 66 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175096139 175096139 + Missense_Mutation SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:175096139G>T ENST00000239462.4 + 13 3076 c.2963G>T c.(2962-2964)gGt>gTt p.G988V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 988 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACGCAGTCTGGTGGCATATTG 0.498000 26 40 7.41945e-09 8.07209e-09 1 1 0 NOD2 64127 broad.mit.edu 37 16 50733835 50733835 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr16:50733835C>T ENST00000300589.2 + 2 615 c.510C>T c.(508-510)atC>atT p.I170I NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 170 CARD 2. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GTGATGAAATCAGGTTGCCGA 0.552000 20 34 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3888132 3888132 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:3888132C>T ENST00000319331.3 + 2 2568 c.1807C>T c.(1807-1809)Cag>Tag p.Q603* SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 603 Fibronectin type-III. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CAATATTCATCAGCAGACTCA 0.458000 48 83 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152774651 152774651 + Missense_Mutation SNP T T C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr6:152774651T>C ENST00000495090.2 - 12 1806 c.1798A>G c.(1798-1800)Aaa>Gaa p.K600E SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000367248.3_Intron Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7269 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCTTACATTTGGACCTTAAC 0.393000 HNSCC(10;0.0054) 34 42 0 0 1 0 0 DESI2 51029 broad.mit.edu 37 1 244855254 244855254 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:244855254G>T ENST00000302550.11 + 4 662 c.283G>T c.(283-285)Gaa>Taa p.E95* DESI2_ENST00000263831.7_Nonsense_Mutation_p.E62* NM_016076.3 NP_057160.2 Q9BSY9 PPDE1_HUMAN desumoylating isopeptidase 2 95 PPPDE peptidase. ACTGGGAAAAGAATACAAAGG 0.308000 4 47 0.00024832 0.000255944 1 1 0 POLQ 10721 broad.mit.edu 37 3 121260199 121260199 + Silent SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:121260199G>C ENST00000264233.5 - 3 599 c.471C>G c.(469-471)ctC>ctG p.L157L NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 157 Helicase ATP-binding. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ACATTACCTGGAGGTAGTATT 0.338000 DNA polymerases (catalytic subunits) 48 110 0 0 1 0 0 CEND1 51286 broad.mit.edu 37 11 788405 788405 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:788405C>T ENST00000330106.4 - 2 347 c.172G>A c.(172-174)Gca>Aca p.A58T CEND1_ENST00000524587.1_5'UTR NM_016564.3 NP_057648.2 Q8N111 CEND_HUMAN cell cycle exit and neuronal differentiation 1 58 integral to membrane prostate(1) 1 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGGCAGGTGCCGTGGTGGGG 0.672000 4 98 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22307332 22307332 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:22307332G>A ENST00000337107.6 + 3 164 c.145G>A c.(145-147)Gag>Aag p.E49K NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 49 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 CCTGCAGTATGAGAAAAGCGG 0.592000 OREG0013210 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 20 0 0 1 0 0 ACP2 53 broad.mit.edu 37 11 47264601 47264601 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:47264601G>C ENST00000256997.3 - 9 1046 c.930C>G c.(928-930)tgC>tgG p.C310W ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000529444.1_Missense_Mutation_p.C247W|ACP2_ENST00000533929.1_Missense_Mutation_p.C282W|ACP2_ENST00000537863.1_Missense_Mutation_p.C123W|ACP2_ENST00000527256.1_Missense_Mutation_p.C278W NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 310 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 CAAATATGTGGCAGGAGGCGT 0.617000 16 71 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172028627 172028627 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:172028627G>A ENST00000336824.4 + 11 1309 c.1210G>A c.(1210-1212)Gac>Aac p.D404N FNDC3B_ENST00000416957.1_Missense_Mutation_p.D404N|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D404N NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 404 Fibronectin type-III 2. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GGCACCAATTGACAACGGTTC 0.343000 36 86 0 0 1 0 0 C14orf159 80017 broad.mit.edu 37 14 91662818 91662818 + Splice_Site SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr14:91662818G>A ENST00000518868.1 + 13 1985 c.1295G>A c.(1294-1296)aGa>aAa p.R432K C14orf159_ENST00000521077.2_Splice_Site_p.R432K|C14orf159_ENST00000428926.2_Splice_Site_p.R427K|C14orf159_ENST00000412671.2_Splice_Site_p.R432K|C14orf159_ENST00000522322.1_Splice_Site_p.R427K|C14orf159_ENST00000523771.1_Splice_Site_p.R427K|C14orf159_ENST00000256324.10_Splice_Site_p.R432K|C14orf159_ENST00000525393.2_Splice_Site_p.R303K|C14orf159_ENST00000523816.1_Splice_Site_p.R427K|C14orf159_ENST00000520328.1_Splice_Site_p.R415K Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 427 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) CAGACACCTAGGTACGTATGT 0.517000 3 14 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49221267 49221267 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr20:49221267C>T ENST00000327979.2 - 12 1400 c.989G>A c.(988-990)gGc>gAc p.G330D FAM65C_ENST00000045083.2_Missense_Mutation_p.G330D|FAM65C_ENST00000535356.1_Missense_Mutation_p.G334D Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 330 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGAAAACTTGCCCGTGGGGCT 0.592000 3 51 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89388103 89388103 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr6:89388103C>G ENST00000369485.4 - 14 1661 c.1475G>C c.(1474-1476)gGa>gCa p.G492A RNGTT_ENST00000369475.3_Missense_Mutation_p.G492A|RNGTT_ENST00000538899.1_Missense_Mutation_p.G409A|RNGTT_ENST00000265607.6_Missense_Mutation_p.G469A NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 492 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) TTCATAACCTCCAACATACAG 0.328000 23 27 0 0 1 0 0 FATE1 89885 broad.mit.edu 37 X 150885800 150885800 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chrX:150885800G>T ENST00000370350.3 + 2 248 c.163G>T c.(163-165)Gaa>Taa p.E55* NM_033085.2 NP_149076.1 Q969F0 FATE1_HUMAN fetal and adult testis expressed 1 55 endoplasmic reticulum|integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1) 15 Acute lymphoblastic leukemia(192;6.56e-05) GCAGAAGTTGGAACAAAAAGC 0.517000 5 145 0.014758 0.0149488 1 1 0 SCUBE3 222663 broad.mit.edu 37 6 35211499 35211499 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr6:35211499C>G ENST00000274938.7 + 16 2038 c.2038C>G c.(2038-2040)Cct>Gct p.P680A SCUBE3_ENST00000394681.1_Missense_Mutation_p.P696A NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 680 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 TGCCCACGGGCCTCTTGGAGC 0.632000 12 31 0 0 1 0 0 MESP2 145873 broad.mit.edu 37 15 90320328 90320328 + Missense_Mutation SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr15:90320328C>A ENST00000341735.3 + 1 740 c.740C>A c.(739-741)gCa>gAa p.A247E MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 247 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) GATCCCTGGGCAACACCCCCT 0.697000 5 10 1.024e-07 1.10894e-07 1 1 0 SIX6 4990 broad.mit.edu 37 14 60976257 60976257 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr14:60976257C>T ENST00000327720.5 + 1 589 c.141C>T c.(139-141)ctC>ctT p.L47L NM_007374.2 NP_031400.2 O95475 SIX6_HUMAN SIX homeobox 6 47 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.088) GCGAGGCCCTCAACAAGAATG 0.622000 24 22 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30066936 30066936 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr14:30066936C>T ENST00000331968.5 - 16 2424 c.2195G>A c.(2194-2196)cGg>cAg p.R732Q PRKD1_ENST00000415220.2_Missense_Mutation_p.R740Q NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 732 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity p.R732L(2) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TCCAATGATCCGGGCAAAACC 0.478000 15 44 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95480849 95480849 + Missense_Mutation SNP A A G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr9:95480849A>G ENST00000356884.6 - 5 2145 c.2078T>C c.(2077-2079)cTg>cCg p.L693P BICD2_ENST00000375512.3_Missense_Mutation_p.L693P NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 693 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CACAGTGCGCAGCGTGGTGAT 0.612000 37 63 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631912 32631912 + Missense_Mutation SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr9:32631912C>A ENST00000242310.4 - 1 3755 c.3666G>T c.(3664-3666)gaG>gaT p.E1222D NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1222 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GAATGAATTTCTCATCTTTTG 0.453000 13 173 1.02788e-11 1.12875e-11 1 1 0 ENPP5 59084 broad.mit.edu 37 6 46129186 46129186 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr6:46129186G>A ENST00000371383.2 - 5 1571 c.1311C>T c.(1309-1311)gtC>gtT p.V437V ENPP5_ENST00000230565.3_Silent_p.V437V Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 437 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 TGCCAAGAGAGACCCCTATGA 0.388000 23 35 0 0 1 0 0 LGALS12 85329 broad.mit.edu 37 11 63283815 63283815 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:63283815C>T ENST00000415491.2 + 8 1392 c.778C>T c.(778-780)Cgg>Tgg p.R260W LGALS12_ENST00000340246.5_Missense_Mutation_p.R322W|LGALS12_ENST00000394618.3_Missense_Mutation_p.R321W|LGALS12_ENST00000255684.5_Missense_Mutation_p.R312W|LGALS12_ENST00000425950.2_Missense_Mutation_p.R251W NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 321 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 GGAGCAGCTGCGGGAGCTCCG 0.622000 3 54 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73500695 73500695 + Silent SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:73500695G>C ENST00000321617.3 - 12 1858 c.1272C>G c.(1270-1272)ggC>ggG p.G424G CASKIN2_ENST00000433559.2_Silent_p.G342G NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 424 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCCATTAGTGCCCTCAGAGC 0.642000 3 19 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2607715 2607715 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:2607715G>C ENST00000570628.2 - 2 235 c.130C>G c.(130-132)Cag>Gag p.Q44E CLUH_ENST00000435359.1_Missense_Mutation_p.Q44E|CLUH_ENST00000538975.1_Missense_Mutation_p.Q44E clustered mitochondria (cluA/CLU1) homolog CCCGTGTCCTGAATGACAATG 0.642000 3 6 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24205370 24205370 + Missense_Mutation SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr6:24205370G>T ENST00000378450.3 - 1 161 c.142C>A c.(142-144)Caa>Aaa p.Q48K DCDC2_ENST00000378454.3_Intron Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 76 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) AAATCCAATTGTGACATCGTG 0.403000 8 61 0.000157383 0.000163651 1 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156925550 156925550 + Missense_Mutation SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:156925550C>A ENST00000368194.3 - 20 2752 c.1713G>T c.(1711-1713)aaG>aaT p.K571N ARHGEF11_ENST00000361409.2_Missense_Mutation_p.K531N NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 531 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGTTTCGCTTCTTGTCCTCCA 0.517000 144 193 1.6827e-80 1.91958e-80 1 1 0 C12orf52 84934 broad.mit.edu 37 12 113624824 113624824 + Silent SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr12:113624824C>G ENST00000548278.1 + 3 965 c.273C>G c.(271-273)acC>acG p.T91T C12orf52_ENST00000552495.1_Silent_p.T115T|C12orf52_ENST00000549621.1_Silent_p.T91T|RP11-545P7.4_ENST00000552525.1_RNA NM_032848.1 NP_116237.1 Q96K30 RITA_HUMAN chromosome 12 open reading frame 52 91 negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding p.L92F(1) large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 GCACCCCCACCCTCACACCAA 0.562000 8 9 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121381667 121381667 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:121381667C>T ENST00000297848.3 + 47 5524 c.5254C>T c.(5254-5256)Cct>Tct p.P1752S COL14A1_ENST00000309791.4_Missense_Mutation_p.P1752S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1657S NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1752 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ACCCCAAGGTCCTTCTGGCCA 0.592000 30 45 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102748438 102748438 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr10:102748438C>T ENST00000370228.1 + 1 656 c.471C>T c.(469-471)atC>atT p.I157I C10orf2_ENST00000311916.2_Silent_p.I157I|C10orf2_ENST00000473656.1_Intron NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 157 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) TCCGGAGGATCTGGAACCGAG 0.572000 43 99 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976926 119976926 + Missense_Mutation SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr9:119976926C>A ENST00000313400.4 - 3 826 c.726G>T c.(724-726)aaG>aaT p.K242N ASTN2_ENST00000361209.2_Missense_Mutation_p.K242N|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.K242N O75129 ASTN2_HUMAN astrotactin 2 242 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TGCTTGCGCTCTTCTGGGGGA 0.642000 33 39 3.90053e-15 4.34419e-15 1 1 0 SLC38A3 10991 broad.mit.edu 37 3 50255397 50255397 + RNA SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:50255397G>A ENST00000420502.1 + 0 1057 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) CTGCCACCCCGAGGTGCTGCC 0.607000 14 30 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10295278 10295278 + Missense_Mutation SNP T T C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:10295278T>C ENST00000403437.2 - 39 5679 c.5585A>G c.(5584-5586)aAg>aGg p.K1862R RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1862 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GAGAACATTCTTGCGATCTTC 0.388000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 12 132 0 0 1 0 0 PPP2R2A 5520 broad.mit.edu 37 8 26217721 26217721 + Missense_Mutation SNP A A T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:26217721A>T ENST00000380737.3 + 5 712 c.383A>T c.(382-384)gAc>gTc p.D128V PPP2R2A_ENST00000315985.7_Missense_Mutation_p.D138V NM_002717.3 NP_002708.1 protein phosphatase 2, regulatory subunit B, alpha kidney(1)|large_intestine(2)|ovary(1) 4 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) AGTGAAAGGGACAAAAGACCA 0.313000 22 59 0 0 1 0 0 POLR3E 55718 broad.mit.edu 37 16 22335849 22335849 + Missense_Mutation SNP T T A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr16:22335849T>A ENST00000299853.5 + 16 1321 c.1154T>A c.(1153-1155)tTc>tAc p.F385Y POLR3E_ENST00000418581.2_Missense_Mutation_p.F349Y|POLR3E_ENST00000359210.4_Missense_Mutation_p.F385Y|POLR3E_ENST00000564209.1_Missense_Mutation_p.F385Y NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 385 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) GTGAAGGACTTCCTGGAGCAC 0.627000 49 94 0 0 1 0 0 RUNX1 861 broad.mit.edu 37 21 36259264 36259264 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr21:36259264C>T ENST00000344691.4 - 1 1723 c.146G>A c.(145-147)cGc>cAc p.R49H RUNX1_ENST00000399240.1_Missense_Mutation_p.R49H|RUNX1_ENST00000325074.5_Missense_Mutation_p.R64H|RUNX1_ENST00000300305.3_Missense_Mutation_p.R76H|RUNX1_ENST00000437180.1_Missense_Mutation_p.R76H|RUNX1_ENST00000358356.5_Missense_Mutation_p.R49H|RUNX1_ENST00000486278.2_Missense_Mutation_p.R52H NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 49 myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.R76H(1) breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 CACCATGCTGCGGTCGCCGCT 0.726000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 3 18 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46880573 46880573 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:46880573C>G ENST00000378623.1 - 38 5921 c.5679G>C c.(5677-5679)tgG>tgC p.W1893C LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1893 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GTTCATGTTTCCAGCCCGTGT 0.542000 40 26 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67686228 67686228 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr16:67686228G>C ENST00000334583.6 + 27 3131 c.2803G>C c.(2803-2805)Gag>Cag p.E935Q RLTPR_ENST00000545661.1_Missense_Mutation_p.E899Q NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 935 Pro-rich. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) ggagaaggaagaggagaagga 0.557000 14 25 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012900 73012900 + Missense_Mutation SNP A A T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr4:73012900A>T ENST00000308744.6 + 4 1038 c.940A>T c.(940-942)Aat>Tat p.N314Y NPFFR2_ENST00000358749.3_Missense_Mutation_p.N212Y|NPFFR2_ENST00000395999.1_Missense_Mutation_p.N215Y|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 314 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) AGACTGGCCAAATCAGGAAAT 0.453000 26 14 0 0 1 0 0 TOMM40L 84134 broad.mit.edu 37 1 161197699 161197699 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:161197699G>A ENST00000367988.3 + 6 673 c.404G>A c.(403-405)tGg>tAg p.W135* TOMM40L_ENST00000545897.1_Nonsense_Mutation_p.W101*|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Nonsense_Mutation_p.W135* NM_032174.4 NP_115550.2 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast)-like 135 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TTCCTGACATGGCAGTTTGAT 0.527000 OREG0013943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 19 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3824690 3824690 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr16:3824690C>T ENST00000262367.5 - 12 2972 c.2163G>A c.(2161-2163)atG>atA p.M721I CREBBP_ENST00000382070.3_Missense_Mutation_p.M683I NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 721 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TAAATGAATTCATCCCTGTAA 0.443000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 11 29 0 0 1 0 0 COPZ1 22818 broad.mit.edu 37 12 54743440 54743440 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr12:54743440C>G ENST00000262061.2 + 8 521 c.484C>G c.(484-486)Cag>Gag p.Q162E COPZ1_ENST00000552218.1_Missense_Mutation_p.Q183E|COPZ1_ENST00000549043.1_Missense_Mutation_p.Q170E|COPZ1_ENST00000553231.1_Missense_Mutation_p.Q139E|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000549116.1_Missense_Mutation_p.Q104E|COPZ1_ENST00000455864.2_Missense_Mutation_p.Q139E|COPZ1_ENST00000548753.1_Missense_Mutation_p.Q74E|COPZ1_ENST00000552362.1_Intron|COPZ1_ENST00000551779.1_Missense_Mutation_p.Q162E|COPZ1_ENST00000416254.2_Missense_Mutation_p.Q111E NM_001271734.1|NM_001271736.1|NM_016057.1 NP_001258663.1|NP_001258665.1|NP_057141.1 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 162 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 GACCGTGTCTCAGGTATGACT 0.483000 59 149 0 0 1 0 0 ARC 23237 broad.mit.edu 37 8 143694471 143694471 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:143694471C>T ENST00000356613.2 - 1 2362 c.1162G>A c.(1162-1164)Gtg>Atg p.V388M NM_015193.4 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 388 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) TCACTGGCCACGGACTCGCTG 0.701000 6 5 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33955919 33955919 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr15:33955919G>A ENST00000389232.4 + 36 5670 c.5600G>A c.(5599-5601)cGc>cAc p.R1867H RYR3_ENST00000415757.3_Missense_Mutation_p.R1867H NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1867 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAGGAGTTCCGCTCACCCCCA 0.557000 7 4 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37879873 37879873 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:37879873G>T ENST00000436120.2 + 5 1029 c.922G>T c.(922-924)Gga>Tga p.G308* ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAATGACTGTGGAAAAGCCTT 0.393000 19 54 8.00594e-06 8.47476e-06 1 1 0 LAMB3 3914 broad.mit.edu 37 1 209789835 209789835 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:209789835C>G ENST00000391911.1 - 21 3752 c.3363G>C c.(3361-3363)gaG>gaC p.E1121D LAMB3_ENST00000356082.4_Missense_Mutation_p.E1121D|LAMB3_ENST00000367030.3_Missense_Mutation_p.E1121D NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1121 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TGTCCATCATCTCCATGGTCT 0.562000 48 116 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183664436 183664436 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr4:183664436G>C ENST00000511685.1 + 19 3616 c.3493G>C c.(3493-3495)Ggt>Cgt p.G1165R TENM3_ENST00000406950.2_Missense_Mutation_p.G1165R|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 CAGTTGCAATGGTCAAGCTGA 0.547000 8 26 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109771843 109771843 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr9:109771843G>A ENST00000277225.5 + 12 7496 c.7207G>A c.(7207-7209)Gac>Aac p.D2403N ZNF462_ENST00000457913.1_Missense_Mutation_p.D2463N|ZNF462_ENST00000542028.1_Missense_Mutation_p.D360N|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.D1309N Q96JM2 ZN462_HUMAN zinc finger protein 462 2403 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GAGATTTTCTGACCACGGGGC 0.473000 20 19 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86773256 86773256 + Silent SNP T T C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chrX:86773256T>C ENST00000373119.4 + 1 505 c.360T>C c.(358-360)tgT>tgC p.C120C KLHL4_ENST00000373114.4_Silent_p.C120C NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 120 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AAGAAGCTTGTGAGAAACGCG 0.373000 46 13 0 0 1 0 0 RPF1 80135 broad.mit.edu 37 1 84955382 84955382 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:84955382C>G ENST00000370654.5 + 4 448 c.433C>G c.(433-435)Ctc>Gtc p.L145V NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 145 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 TCCCAAGATTCTCATCACAAC 0.328000 7 33 0 0 1 0 0 HPS6 79803 broad.mit.edu 37 10 103826396 103826396 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr10:103826396G>A ENST00000299238.5 + 1 1250 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 389 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) TGTGGGCTGGGAAGCCCCACA 0.622000 Hermansky-Pudlak syndrome 26 31 0 0 1 0 0 LRRC3 81543 broad.mit.edu 37 21 45876836 45876836 + Missense_Mutation SNP C C G rs150321502 TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr21:45876836C>G ENST00000291592.4 + 2 626 c.309C>G c.(307-309)atC>atG p.I103M NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 103 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) TCGAGGCCATCGGCTCCGCCA 0.662000 4 37 0 0 1 0 0 SMTNL2 342527 broad.mit.edu 37 17 4496425 4496425 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:4496425G>A ENST00000389313.4 + 3 756 c.689G>A c.(688-690)aGc>aAc p.S230N SMTNL2_ENST00000338859.4_Missense_Mutation_p.S86N NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 230 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) CTCAACCCAAGCCCCAGCGAG 0.647000 35 34 0 0 1 0 0 DLL4 54567 broad.mit.edu 37 15 41221880 41221880 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr15:41221880C>T ENST00000249749.5 + 1 290 c.14C>T c.(13-15)tCc>tTc p.S5F NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 5 blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCGGCAGCGTCCCGGAGCGCC 0.731000 4 9 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33397598 33397598 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr7:33397598C>T ENST00000242067.6 + 16 2205 c.1684C>T c.(1684-1686)Ctc>Ttc p.L562F BBS9_ENST00000355070.2_Missense_Mutation_p.L557F|BBS9_ENST00000354265.4_Missense_Mutation_p.L527F|BBS9_ENST00000396127.2_Missense_Mutation_p.L527F|BBS9_ENST00000350941.3_Missense_Mutation_p.L522F NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 562 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TCTTCTTAGTCTCTTCCCAGG 0.383000 Bardet-Biedl syndrome 39 31 0 0 1 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169707825 169707825 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr2:169707825G>C ENST00000444448.2 + 13 1413 c.937G>C c.(937-939)Gac>Cac p.D313H NOSTRIN_ENST00000397209.2_Missense_Mutation_p.D228H|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.D228H|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.D178H|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.D178H|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.D313H|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.D256H Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 256 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 CAGCAAGATTGACATTGAAAA 0.418000 18 19 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 132957121 132957121 + Splice_Site SNP T T C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:132957121T>C ENST00000254624.5 + 3 440 c.e3+2 EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000519656.1_Splice_Site NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TCGTTCTGGGTAAGGAAACTA 0.358000 4 19 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9553350 9553350 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr18:9553350C>T ENST00000400556.3 - 16 2334 c.2261G>A c.(2260-2262)aGa>aAa p.R754K PPP4R1_ENST00000400555.3_Missense_Mutation_p.R737K NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 754 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 CCGCCAATTTCTACTATTATC 0.303000 17 23 0 0 1 0 0 ZMYND15 84225 broad.mit.edu 37 17 4645341 4645341 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:4645341G>A ENST00000433935.1 + 4 1016 c.959G>A c.(958-960)aGc>aAc p.S320N ZMYND15_ENST00000573751.2_Missense_Mutation_p.S320N|ZMYND15_ENST00000592813.1_Missense_Mutation_p.S320N|ZMYND15_ENST00000269289.6_Missense_Mutation_p.S320N NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 320 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 CACAGGCACAGCTTTGAAGCG 0.592000 46 93 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145739638 145739638 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:145739638C>T ENST00000428558.2 - 11 1854 c.1813G>A c.(1813-1815)Gat>Aat p.D605N RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 605 Helicase ATP-binding. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGGGCCTCATCAATGCAGGCA 0.647000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 13 43 0 0 1 0 0 LRRC47 57470 broad.mit.edu 37 1 3703459 3703459 + Missense_Mutation SNP A A G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:3703459A>G ENST00000378251.1 - 2 1058 c.1031T>C c.(1030-1032)aTg>aCg p.M344T NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 344 translation phenylalanine-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CTGCAGGTCCATGCCTCGCAC 0.642000 3 4 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602872 10602872 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:10602872C>T ENST00000171111.5 - 3 1253 c.706G>A c.(706-708)Gac>Aac p.D236N KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.D236N NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 236 BACK. D -> H (in a NSCLC cell line). regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ACGTTCAGGTCGTCCCGGCTG 0.622000 25 37 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193068958 193068958 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:193068958G>A ENST00000342358.4 - 7 756 c.639C>T c.(637-639)ttC>ttT p.F213F NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 213 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AAGTTAGGGTGAAGGCTTGGA 0.398000 33 59 0 0 1 0 0 MTFR1L 56181 broad.mit.edu 37 1 26153142 26153142 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:26153142C>T ENST00000466284.1 + 4 1858 c.276C>T c.(274-276)ccC>ccT p.P92P MTFR1L_ENST00000474295.1_Silent_p.P92P|MTFR1L_ENST00000374300.3_Silent_p.P92P|MTFR1L_ENST00000374303.2_Silent_p.P92P|MTFR1L_ENST00000524618.1_5'UTR|MTFR1L_ENST00000374307.5_Silent_p.P92P|MTFR1L_ENST00000526894.1_Silent_p.P92P|MTFR1L_ENST00000374301.3_Silent_p.P92P|MTFR1L_ENST00000469815.1_Intron mitochondrial fission regulator 1-like CCTGGAAACCCAGCCCTCTGA 0.582000 33 98 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42462348 42462348 + Missense_Mutation SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:42462348G>T ENST00000262407.5 - 7 798 c.767C>A c.(766-768)tCc>tAc p.S256Y ITGA2B_ENST00000353281.4_Missense_Mutation_p.S256Y|ITGA2B_ENST00000377068.3_Intron NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 256 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) TGGGTTGCTGGAGTCAAAGGA 0.607000 15 89 2.23348e-06 2.38577e-06 1 1 0 CNTN3 5067 broad.mit.edu 37 3 74350893 74350893 + Missense_Mutation SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:74350893G>T ENST00000263665.6 - 14 1877 c.1850C>A c.(1849-1851)tCt>tAt p.S617Y NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 617 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTCTTTCCAAGAGAGTTGGGC 0.448000 7 40 8.12818e-05 8.48944e-05 1 1 0 TMEM101 84336 broad.mit.edu 37 17 42092225 42092225 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:42092225G>A ENST00000589334.1 - 2 411 c.96C>T c.(94-96)ttC>ttT p.F32F TMEM101_ENST00000206380.3_Silent_p.F32F|TMEM101_ENST00000587529.1_Silent_p.F32F|TMEM101_ENST00000542039.1_Intron Q96IK0 TM101_HUMAN transmembrane protein 101 32 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Breast(137;0.0264)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.113) TGAGCTGGCTGAAGCAGCCCC 0.607000 42 62 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105037202 105037202 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr10:105037202C>T ENST00000369849.4 + 1 283 c.234C>T c.(232-234)agC>agT p.S78S NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 78 Head. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) TGGACCTGAGCCAGGCGGCGG 0.697000 10 20 0 0 1 0 0 C12orf76 400073 broad.mit.edu 37 12 110495088 110495088 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr12:110495088C>A ENST00000309050.5 - 4 569 c.205G>T c.(205-207)Gag>Tag p.E69* C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000548191.1_Intron NM_207435.1 NP_997318.1 Q8N812 CL076_HUMAN chromosome 12 open reading frame 76 69 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 AAGTTCCTCTCCCCCTTACAG 0.512000 6 17 1.26484e-09 1.3825e-09 1 1 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). 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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTGTGCGCCGGTCTCTCCCA 0.557000 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) 6 13 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432465 104432465 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr9:104432465C>T ENST00000361820.3 - 3 2829 c.2229G>A c.(2227-2229)agG>agA p.R743R NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 743 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TCATTAGAAACCTTCCAGTCC 0.438000 11 89 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45375180 45375180 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:45375180C>A ENST00000252483.5 + 3 549 c.549C>A c.(547-549)tgC>tgA p.C183* PVRL2_ENST00000252485.4_Nonsense_Mutation_p.C183* NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 183 Ig-like C2-type 1. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCCCTCTGCATCTCCAAAG 0.637000 3 39 1 1 1 1 0 DDX24 57062 broad.mit.edu 37 14 94528953 94528953 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr14:94528953G>C ENST00000330836.5 - 3 864 c.733C>G c.(733-735)Ctt>Gtt p.L245V DDX24_ENST00000544005.1_5'UTR|DDX24_ENST00000555054.1_Missense_Mutation_p.L202V NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 245 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) GCAAAGGCAAGAGTTTTCCCA 0.423000 15 53 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22143020 22143020 + Silent SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr16:22143020C>A ENST00000389398.5 + 19 1938 c.1842C>A c.(1840-1842)ctC>ctA p.L614L VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 614 VWFA 1. extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) GAATCTACCTCTTCACTGGGG 0.582000 9 20 7.48243e-07 8.02909e-07 1 1 0 KRTAP5-6 440023 broad.mit.edu 37 11 1718780 1718780 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:1718780C>T ENST00000382160.1 + 1 356 c.305C>T c.(304-306)tCa>tTa p.S102L NM_001012416.1 NP_001012416.1 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 102 6 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCTGTGGGTCATCCTGCTGC 0.607000 91 96 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20871927 20871927 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr14:20871927C>T ENST00000262715.5 - 6 1189 c.1149G>A c.(1147-1149)cgG>cgA p.R383R TEP1_ENST00000556935.1_Intron NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 383 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCCGGTGCTTCCGAGGGTTGT 0.617000 58 53 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67686168 67686168 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr16:67686168G>A ENST00000334583.6 + 27 3071 c.2743G>A c.(2743-2745)Gag>Aag p.E915K RLTPR_ENST00000545661.1_Missense_Mutation_p.E879K NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 915 Pro-rich. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGATGGAGGTGAGCCCAGCCT 0.562000 20 42 0 0 1 0 0 LOC400867 400867 broad.mit.edu 37 21 40250479 40250479 + RNA SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr21:40250479G>C ENST00000380931.2 - 0 2558 TGTTACCCAAGAGAGCTGTCT 0.522000 6 31 0 0 1 0 0 TOP2B 7155 broad.mit.edu 37 3 25640995 25640995 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:25640995C>T ENST00000435706.2 - 35 4827 c.4626G>A c.(4624-4626)agG>agA p.R1542R TOP2B_ENST00000540199.1_Silent_p.R399R|TOP2B_ENST00000264331.4_Silent_p.R1547R|TOP2B_ENST00000542520.1_Silent_p.R399R Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 1547 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 CAGATGCTTTCCTTTTCTTTG 0.388000 3 13 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151129827 151129827 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chrX:151129827C>T ENST00000370325.1 - 5 627 c.574G>A c.(574-576)Gat>Aat p.D192N GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Missense_Mutation_p.D192N P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 192 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CATCCGGCATCAATGGTCATC 0.512000 48 9 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85331503 85331503 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:85331503G>A ENST00000440886.1 - 1 339 c.301C>T c.(301-303)Cgc>Tgc p.R101C LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.R101C Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 101 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 AGAAACCAGCGGTTGACAGTC 0.488000 27 213 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57382031 57382031 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:57382031C>T ENST00000403558.1 + 7 1975 c.1609C>T c.(1609-1611)Cga>Tga p.R537* SERPING1_ENST00000378324.2_Nonsense_Mutation_p.R442*|SERPING1_ENST00000278407.4_Nonsense_Mutation_p.R494*|SERPING1_ENST00000378323.4_Nonsense_Mutation_p.R499*|SERPING1_ENST00000340687.6_Nonsense_Mutation_p.R457* NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 494 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 CTTCATGGGGCGAGTATATGA 0.617000 16 12 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85962872 85962872 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr10:85962872C>G ENST00000372117.3 + 8 879 c.776C>G c.(775-777)aCc>aGc p.T259S CDHR1_ENST00000440770.2_Missense_Mutation_p.T18S|CDHR1_ENST00000332904.3_Missense_Mutation_p.T259S NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 259 Cadherin 3. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 TACGAGGACACCCTTCCGGTG 0.597000 6 60 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171405266 171405266 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:171405266C>A ENST00000356327.5 - 15 1718 c.1648G>T c.(1648-1650)Gga>Tga p.G550* PLD1_ENST00000342215.6_Intron|PLD1_ENST00000351298.4_Nonsense_Mutation_p.G550*|PLD1_ENST00000340989.4_Nonsense_Mutation_p.G550* NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 550 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TTTCCTATTCCTTTCAGTTTT 0.428000 37 63 3.93418e-24 4.46634e-24 1 1 0 ROBO1 6091 broad.mit.edu 37 3 78706263 78706263 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:78706263G>A ENST00000436010.2 - 16 3479 c.2482C>T c.(2482-2484)Cag>Tag p.Q828* ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Q831*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Q831*|ROBO1_ENST00000464233.1_Nonsense_Mutation_p.Q867* Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 867 Fibronectin type-III 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGGATGAACTGAGGCTCACTC 0.527000 6 10 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88583648 88583648 + Missense_Mutation SNP A A G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr4:88583648A>G ENST00000339673.6 + 6 817 c.718A>G c.(718-720)Aaa>Gaa p.K240E RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.K224E|RP11-742B18.1_ENST00000506480.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 240 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) CATGAAATCAAAAGAATCTGG 0.478000 20 7 0 0 1 0 0 SLMAP 7871 broad.mit.edu 37 3 57902775 57902775 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:57902775G>A ENST00000295951.3 + 20 3396 c.2179G>A c.(2179-2181)Gaa>Aaa p.E727K SLMAP_ENST00000416870.1_Missense_Mutation_p.E237K|SLMAP_ENST00000449503.2_Missense_Mutation_p.E706K|SLMAP_ENST00000495364.1_Missense_Mutation_p.E278K|SLMAP_ENST00000494088.1_Missense_Mutation_p.E237K|SLMAP_ENST00000428312.1_Missense_Mutation_p.E744K|SLMAP_ENST00000295952.3_Missense_Mutation_p.E727K|SLMAP_ENST00000442599.2_Missense_Mutation_p.E212K Q14BN4 SLMAP_HUMAN sarcolemma associated protein 744 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) CAGTAAGGCAGAAAACCAAGC 0.403000 18 38 0 0 1 0 0 DUSP21 63904 broad.mit.edu 37 X 44703756 44703756 + Silent SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chrX:44703756C>A ENST00000339042.4 + 1 508 c.378C>A c.(376-378)tcC>tcA p.S126S NM_022076.3 NP_071359.3 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 126 Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3) 19 AATACCACTCCATGTCGCTGC 0.572000 4 72 0.00909568 0.00929341 1 1 0 VCAN 1462 broad.mit.edu 37 5 82817722 82817722 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr5:82817722C>T ENST00000265077.3 + 7 4162 c.3597C>T c.(3595-3597)atC>atT p.I1199I VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.I1199I|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.I1151I NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1199 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTTCAACAATCAAAGTCACAG 0.398000 50 38 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90030205 90030205 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr15:90030205C>T ENST00000268122.4 - 2 264 c.196G>A c.(196-198)Gtg>Atg p.V66M RHCG_ENST00000544600.1_Missense_Mutation_p.V66M NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 66 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) ATCACGTGCACGTCCTGGAAG 0.657000 5 38 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117079768 117079768 + Splice_Site SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:117079768G>A ENST00000320934.3 - 13 2166 c.1536C>T c.(1534-1536)gtC>gtT p.V512V PCSK7_ENST00000540028.1_Splice_Site_p.V153V NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 512 Homo B/P. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) CCATCCTGCTGACTGTAGAAA 0.577000 T IGH@ MLCLS 5 16 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14217686 14217686 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr7:14217686C>T ENST00000403951.2 - 24 2635 c.2216G>A c.(2215-2217)cGg>cAg p.R739Q DGKB_ENST00000402815.1_Missense_Mutation_p.R738Q|DGKB_ENST00000399322.3_Missense_Mutation_p.R739Q|DGKB_ENST00000407950.1_Missense_Mutation_p.R731Q|DGKB_ENST00000406247.3_Missense_Mutation_p.R739Q|DGKB_ENST00000444700.2_Missense_Mutation_p.R720Q|DGKB_ENST00000258767.5_Missense_Mutation_p.R739Q Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 739 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CTGAGCCAGCCGCCGGCCAGC 0.507000 14 34 0 0 1 0 0 RPAP2 79871 broad.mit.edu 37 1 92772769 92772769 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:92772769C>T ENST00000610020.1 + 6 533 c.424C>T c.(424-426)Caa>Taa p.Q142* RPAP2_ENST00000484158.1_3'UTR NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) TTTTTGTTATCAAGCATCTAA 0.294000 11 18 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27368612 27368612 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr6:27368612C>T ENST00000244576.4 + 3 1008 c.463C>T c.(463-465)Cat>Tat p.H155Y NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 CCTTATTGAACATCAAAGAAC 0.398000 7 68 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24392413 24392413 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:24392413C>G ENST00000330966.7 - 29 3673 c.3511G>C c.(3511-3513)Gag>Cag p.E1171Q MYOM3_ENST00000329601.7_Missense_Mutation_p.E1170Q|MYOM3_ENST00000338909.5_Missense_Mutation_p.E61Q|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1168Q|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1168 Ig-like C2-type 3. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GTTCCCGTCTCTGGGTCATAC 0.567000 74 76 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49423015 49423015 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr12:49423015C>A ENST00000301067.7 - 44 14079 c.14080G>T c.(14080-14082)Gag>Tag p.E4694* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCATCACTCTCCATCCTGGGG 0.517000 16 22 2.5808e-16 2.88803e-16 1 1 0 TRBV19 28568 broad.mit.edu 37 7 142326760 142326760 + RNA SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr7:142326760G>A ENST00000390393.3 + 0 266 AGACACCGTGGATGGTGGAAT 0.522000 24 112 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144992609 144992609 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:144992609C>T ENST00000322810.4 - 32 11960 c.11791G>A c.(11791-11793)Gag>Aag p.E3931K PLEC_ENST00000357649.2_Missense_Mutation_p.E3798K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3821K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3762K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3817K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3772K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3780K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3794K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3794K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3931 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGGGCCTCCTCAGTAGGGATC 0.677000 4 4 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155014045 155014045 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:155014045C>T ENST00000295542.1 + 7 800 c.704C>T c.(703-705)tCg>tTg p.S235L DCST1_ENST00000392480.1_Missense_Mutation_p.S235L|DCST1_ENST00000368419.2_Missense_Mutation_p.S235L|DCST1_ENST00000423025.2_Missense_Mutation_p.S210L NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 235 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CTCCACCTGTCGACACAGAAG 0.617000 13 38 0 0 1 0 0 YWHAZ 7534 broad.mit.edu 37 8 101961078 101961078 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:101961078C>T ENST00000395957.2 - 3 381 c.40G>A c.(40-42)Gag>Aag p.E14K YWHAZ_ENST00000353245.3_Missense_Mutation_p.E14K|YWHAZ_ENST00000395948.2_Intron|YWHAZ_ENST00000457309.1_Missense_Mutation_p.E14K|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000395958.2_Missense_Mutation_p.E14K|YWHAZ_ENST00000395951.3_Missense_Mutation_p.E14K|YWHAZ_ENST00000395956.3_Missense_Mutation_p.E14K|YWHAZ_ENST00000419477.2_Missense_Mutation_p.E14K|YWHAZ_ENST00000395953.2_Missense_Mutation_p.E14K P63104 1433Z_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 14 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding large_intestine(1)|lung(2) 3 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) TCAGCCTGCTCGGCCAGTTTG 0.443000 36 74 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927154 92927154 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chrX:92927154C>T ENST00000373079.3 - 1 1413 c.1150G>A c.(1150-1152)Gat>Aat p.D384N NAP1L3_ENST00000475430.2_Missense_Mutation_p.D377N NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 384 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 TCATTGTGATCTGGTTTTGCC 0.403000 3 32 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10244933 10244933 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:10244933G>C ENST00000340748.4 - 39 5011 c.4776C>G c.(4774-4776)atC>atG p.I1592M DNMT1_ENST00000359526.4_Missense_Mutation_p.I1608M|DNMT1_ENST00000540357.1_Missense_Mutation_p.I1595M P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1592 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TACAAAGCTTGATCTCCAAGC 0.627000 13 45 0 0 1 0 0 WASF3 10810 broad.mit.edu 37 13 27246115 27246115 + Silent SNP A A C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr13:27246115A>C ENST00000361042.4 + 6 754 c.529A>C c.(529-531)Agg>Cgg p.R177R WASF3_ENST00000335327.5_Silent_p.R177R|WASF3_ENST00000496788.1_3'UTR Q9UPY6 WASF3_HUMAN WAS protein family, member 3 177 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GAAAGAGAAAAGGCGTCAAAA 0.343000 5 36 0 0 1 0 0 G2E3 55632 broad.mit.edu 37 14 31071317 31071317 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr14:31071317C>T ENST00000206595.6 + 10 1144 c.990C>T c.(988-990)tcC>tcT p.S330S G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Silent_p.S284S|G2E3_ENST00000553504.1_Silent_p.S360S NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 330 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 CACCTGGATCCCAGAGTAAAG 0.328000 5 46 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154181879 154181879 + Missense_Mutation SNP A A C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr5:154181879A>C ENST00000336314.4 + 11 1822 c.1798A>C c.(1798-1800)Aag>Cag p.K600Q NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 677 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGAACTGGCCAAGGTCATTAA 0.557000 6 43 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71200967 71200967 + Nonsense_Mutation SNP A A T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr4:71200967A>T ENST00000273936.5 + 1 285 c.211A>T c.(211-213)Aaa>Taa p.K71* NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ACTGACAGCTAAAAAGGAAAA 0.363000 31 20 0 0 1 0 0 PISD 23761 broad.mit.edu 37 22 32017794 32017794 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr22:32017794G>C ENST00000382151.2 - 4 716 c.297C>G c.(295-297)caC>caG p.H99Q PISD_ENST00000439502.2_Missense_Mutation_p.H133Q|PISD_ENST00000397500.1_Missense_Mutation_p.H99Q|PISD_ENST00000266095.5_Missense_Mutation_p.H99Q|PISD_ENST00000336566.4_Missense_Mutation_p.H133Q|PISD_ENST00000478893.1_5'UTR Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 133 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 Phosphatidylserine(DB00144) TGCGCAGCCAGTGTGGCAGCT 0.622000 32 45 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35166897 35166897 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr15:35166897G>C ENST00000156471.5 - 29 3631 c.3406C>G c.(3406-3408)Caa>Gaa p.Q1136E NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 1136 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GCTCTCCCTTGAGCATCAAGG 0.408000 39 52 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921510 12921510 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:12921510G>C ENST00000240189.2 + 4 1388 c.1301G>C c.(1300-1302)cGg>cCg p.R434P NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 434 p.R434L(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCCCACTTCGGGCTGAGCTG 0.552000 24 166 0 0 1 0 0 LCE1F 353137 broad.mit.edu 37 1 152749042 152749042 + Silent SNP T T G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:152749042T>G ENST00000334371.2 + 1 195 c.195T>G c.(193-195)ggT>ggG p.G65G NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 65 Poly-Gly. keratinization p.G64_G65delGG(1) kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGGGGTGGTGGCTGCTGCA 0.677000 8 67 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718607 142718607 + Silent SNP G G T rs41310466 byFrequency TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chrX:142718607G>T ENST00000381779.4 - 2 543 c.318C>A c.(316-318)ctC>ctA p.L106L SLITRK4_ENST00000338017.4_Silent_p.L106L|SLITRK4_ENST00000356928.1_Silent_p.L106L NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 106 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTAATGCACTGAGCCCAAGAA 0.423000 10 73 1.08611e-07 1.1708e-07 1 1 0 JMJD4 65094 broad.mit.edu 37 1 227921252 227921252 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:227921252C>T ENST00000366758.3 - 4 822 c.823G>A c.(823-825)Gac>Aac p.D275N SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.D275N|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 275 JmjC. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) GAGGTCACGTCGTAGGGCAGG 0.637000 12 29 0 0 1 0 0 SEH1L 81929 broad.mit.edu 37 18 12963256 12963256 + Missense_Mutation SNP A A G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr18:12963256A>G ENST00000262124.11 + 4 534 c.407A>G c.(406-408)gAt>gGt p.D136G SEH1L_ENST00000399892.2_Missense_Mutation_p.D136G NM_031216.3 NP_112493.2 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 136 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 TGTTCCGCAGATGGTATAGTA 0.423000 7 103 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56972125 56972125 + Silent SNP C C G rs144865676 byFrequency TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:56972125C>G ENST00000591790.1 - 3 1521 c.93G>C c.(91-93)ctG>ctC p.L31L ZNF667_ENST00000292069.6_Silent_p.L31L|ZNF667_ENST00000342634.3_Silent_p.L124L|ZNF667_ENST00000504904.3_Silent_p.L31L Q5HYK9 ZN667_HUMAN zinc finger protein 667 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GAATGGGGCTCAGCCATTCCC 0.468000 20 27 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166900333 166900333 + Missense_Mutation SNP C C T rs145670933 TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr2:166900333C>T ENST00000423058.2 - 11 1906 c.1889G>A c.(1888-1890)cGg>cAg p.R630Q AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R630Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.R630Q|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R630Q|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 630 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGCCAGCATCCGGGATGACCT 0.532000 20 35 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177906436 177906436 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:177906436G>C ENST00000308284.6 - 19 2505 c.2416C>G c.(2416-2418)Cta>Gta p.L806V RP4-798P15.3_ENST00000354921.3_RNA NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 806 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GTCCCTGGTAGATGGGTCTCA 0.627000 10 21 0 0 1 0 0 RPS20 6224 broad.mit.edu 37 8 56986267 56986267 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr8:56986267C>G ENST00000519807.1 - 3 289 c.164G>C c.(163-165)cGa>cCa p.R55P RPS20_ENST00000521262.1_Missense_Mutation_p.R55P|RPS20_ENST00000518875.1_Missense_Mutation_p.R55P|RPS20_ENST00000009589.3_Missense_Mutation_p.R55P|RPS20_ENST00000523936.1_Missense_Mutation_p.R55P|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000520627.1_5'UTR|RPS20_ENST00000520490.1_Intron|RPS20_ENST00000519606.1_Intron NM_001146227.1 NP_001139699.1 P60866 RS20_HUMAN ribosomal protein S20 55 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) GGTAGGCATTCGAACTGGTCC 0.418000 58 110 0 0 1 0 0 GDF15 9518 broad.mit.edu 37 19 18499553 18499553 + Silent SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:18499553G>C ENST00000252809.3 + 2 767 c.735G>C c.(733-735)ccG>ccC p.P245P NM_004864.2 NP_004855.2 Q99988 GDF15_HUMAN growth differentiation factor 15 245 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 GCGCGTGCCCGAGCCAGTTCC 0.692000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 20 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32328204 32328204 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chrX:32328204G>C ENST00000357033.4 - 42 6318 c.6112C>G c.(6112-6114)Ctg>Gtg p.L2038V DMD_ENST00000378677.2_Missense_Mutation_p.L2034V NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2038 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTTACCTTCAGAGACTCCTCT 0.388000 43 13 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178917478 178917478 + Splice_Site SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:178917478G>A ENST00000263967.3 + 3 510 c.353G>A c.(352-354)gGt>gAt p.G118D NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 118 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G118D(26) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTATTAAAGGTTTTGCTATC 0.338000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 16 33 0 0 1 0 0 TMEM87A 25963 broad.mit.edu 37 15 42556389 42556389 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr15:42556389C>G ENST00000389834.4 - 4 568 c.304G>C c.(304-306)Gag>Cag p.E102Q TMEM87A_ENST00000568432.1_5'UTR|TMEM87A_ENST00000307216.6_Missense_Mutation_p.E102Q|TMEM87A_ENST00000448392.1_Missense_Mutation_p.E41Q NM_015497.3 NP_056312.2 Q8NBN3 TM87A_HUMAN transmembrane protein 87A 102 integral to membrane breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) AAATACAACTCTACTTCTTCT 0.358000 15 35 0 0 1 0 0 USP37 57695 broad.mit.edu 37 2 219339413 219339413 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr2:219339413C>T ENST00000258399.3 - 20 2651 c.2239G>A c.(2239-2241)Gaa>Aaa p.E747K USP37_ENST00000415516.1_Missense_Mutation_p.E653K|USP37_ENST00000454775.1_Missense_Mutation_p.E747K|USP37_ENST00000418019.1_Missense_Mutation_p.E747K NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 747 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TCTGGCATTTCTTGAATATCA 0.403000 35 103 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713405 30713405 + Missense_Mutation SNP A A T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:30713405A>T ENST00000295754.5 + 4 1112 c.730A>T c.(730-732)Att>Ttt p.I244F TGFBR2_ENST00000359013.4_Missense_Mutation_p.I269F NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 244 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GCTGCTGCCCATTGAGCTGGA 0.537000 21 31 0 0 1 0 0 GTF2I 2969 broad.mit.edu 37 7 74120733 74120733 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr7:74120733C>G ENST00000324896.4 + 8 1043 c.654C>G c.(652-654)atC>atG p.I218M GTF2I_ENST00000416070.1_Missense_Mutation_p.I218M|GTF2I_ENST00000346152.4_Missense_Mutation_p.I218M|GTF2I_ENST00000443166.1_Missense_Mutation_p.I218M|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.I218M|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 218 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 GTGGCCCCATCAAAGTGAAAA 0.423000 36 75 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170720436 170720436 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr3:170720436C>T ENST00000314251.3 - 8 1076 c.997G>A c.(997-999)Gct>Act p.A333T SLC2A2_ENST00000382808.4_Missense_Mutation_p.A214T NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 333 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) CTGATACCAGCCGTCTGAAAA 0.388000 36 52 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49421925 49421925 + Splice_Site SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr12:49421925C>T ENST00000301067.7 - 46 14382 c.e46-1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CATTCAGGTTCTGCCAGGGCC 0.592000 12 28 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696435 47696435 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:47696435C>G ENST00000393331.3 - 7 858 c.388G>C c.(388-390)Gac>Cac p.D130H SPOP_ENST00000347630.2_Missense_Mutation_p.D130H|SPOP_ENST00000503676.1_Missense_Mutation_p.D130H|SPOP_ENST00000504102.1_Missense_Mutation_p.D130H|SPOP_ENST00000393328.2_Missense_Mutation_p.D130H NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 130 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATCCCCAGTCTTTGCCTTGC 0.458000 Prostate(2;0.17) 25 85 0 0 1 0 0 PEX19 5824 broad.mit.edu 37 1 160249629 160249629 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:160249629C>T ENST00000368072.5 - 7 799 c.778G>A c.(778-780)Gat>Aat p.D260N PEX19_ENST00000440949.3_Missense_Mutation_p.D170N|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Missense_Mutation_p.D113N|DCAF8_ENST00000556710.1_Missense_Mutation_p.D113N NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGCCTAAATCTTGTAGCTAG 0.368000 20 32 0 0 1 0 0 MKS1 54903 broad.mit.edu 37 17 56290372 56290372 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr17:56290372C>T ENST00000393119.2 - 8 903 c.829G>A c.(829-831)Gag>Aag p.E277K MKS1_ENST00000537529.2_Missense_Mutation_p.E267K|MKS1_ENST00000337050.7_Missense_Mutation_p.E277K|MKS1_ENST00000313863.6_Missense_Mutation_p.E277K|MKS1_ENST00000546108.1_Missense_Mutation_p.E74K NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 277 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TCCCGCTCCTCCTCCTCCGGC 0.532000 35 51 0 0 1 0 0 MYPOP 339344 broad.mit.edu 37 19 46393971 46393971 + Silent SNP T T G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:46393971T>G ENST00000322217.5 - 3 1196 c.1110A>C c.(1108-1110)ccA>ccC p.P370P NM_001012643.2 NP_001012661.1 Q86VE0 MYPOP_HUMAN Myb-related transcription factor, partner of profilin 370 Pro-rich. nucleus DNA binding p.A371fs*>30(1) large_intestine(2)|lung(1)|skin(1) 4 GGAGCGGGGCTGGGGGGGGCC 0.657000 5 12 0 0 1 0 0 DMRT1 1761 broad.mit.edu 37 9 894058 894058 + Missense_Mutation SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr9:894058C>T ENST00000382276.3 + 3 834 c.685C>T c.(685-687)Ccg>Tcg p.P229S DMRT1_ENST00000569227.1_Missense_Mutation_p.P71S NM_021951.2 NP_068770.2 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 1 229 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(10)|ovary(1) 13 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) ATACAACTGCCCGCAGTACTC 0.557000 OREG0019071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 23 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1800145 1800145 + Missense_Mutation SNP G G T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:1800145G>T ENST00000539485.1 - 14 1586 c.1353C>A c.(1351-1353)ttC>ttA p.F451L ATP8B3_ENST00000310127.6_Missense_Mutation_p.F451L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.F404L|ATP8B3_ENST00000526092.2_Missense_Mutation_p.F398L O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 451 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGTAGATGAACTCGGACC 0.652000 4 6 1 1 1 1 0 VCAM1 7412 broad.mit.edu 37 1 101190416 101190416 + Missense_Mutation SNP A A T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:101190416A>T ENST00000294728.2 + 4 999 c.898A>T c.(898-900)Aac>Tac p.N300Y VCAM1_ENST00000370119.4_Missense_Mutation_p.N238Y|VCAM1_ENST00000347652.2_Missense_Mutation_p.N300Y|VCAM1_ENST00000370115.1_Missense_Mutation_p.N300Y NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 300 Ig-like C2-type 3. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GATTGGGAAAAACAGAAAAGA 0.378000 21 24 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57529009 57529009 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr7:57529009C>G ENST00000420713.1 + 4 954 c.842C>G c.(841-843)tCa>tGa p.S281* NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TTTAGCCGCTCAACACTTACT 0.413000 23 30 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16419503 16419503 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr9:16419503C>T ENST00000380672.4 - 7 2841 c.2784G>A c.(2782-2784)ggG>ggA p.G928G BNC2_ENST00000545497.1_Silent_p.G833G|BNC2_ENST00000380667.2_Silent_p.G861G NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 928 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) TGACATCGAGCCCCATGGGGT 0.577000 33 73 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150001083 150001083 + Missense_Mutation SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr6:150001083G>A ENST00000543571.1 - 5 3068 c.2521C>T c.(2521-2523)Cat>Tat p.H841Y LATS1_ENST00000253339.5_Missense_Mutation_p.H841Y|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 841 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AATTTAATATGACCATCACGA 0.338000 23 33 0 0 1 0 0 KIAA1644 85352 broad.mit.edu 37 22 44692665 44692665 + Silent SNP G G A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr22:44692665G>A ENST00000381176.4 - 3 300 c.168C>T c.(166-168)ttC>ttT p.F56F NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 56 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) AACAGAGGATGAAGGTCTTGT 0.557000 83 113 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012898 73012898 + Missense_Mutation SNP C C A TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr4:73012898C>A ENST00000308744.6 + 4 1036 c.938C>A c.(937-939)cCa>cAa p.P313Q NPFFR2_ENST00000358749.3_Missense_Mutation_p.P211Q|NPFFR2_ENST00000395999.1_Missense_Mutation_p.P214Q|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 313 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GAAGACTGGCCAAATCAGGAA 0.453000 25 14 5.45024e-15 6.04154e-15 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49421666 49421666 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr12:49421666C>G ENST00000301067.7 - 47 14562 c.14563G>C c.(14563-14565)Gat>Cat p.D4855H NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTCAGCCAATCAGGGCCAGTG 0.537000 8 10 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113522169 113522169 + Silent SNP C C T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr7:113522169C>T ENST00000284601.3 - 3 959 c.891G>A c.(889-891)ttG>ttA p.L297L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 297 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TACTGGCTTCCAAATCTTCCT 0.333000 5 82 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63662744 63662744 + Silent SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr11:63662744C>G ENST00000402010.2 + 2 747 c.168C>G c.(166-168)ctC>ctG p.L56L MARK2_ENST00000377810.3_Silent_p.L23L|MARK2_ENST00000413835.2_Silent_p.L56L|MARK2_ENST00000350490.7_Silent_p.L56L|MARK2_ENST00000508192.1_Silent_p.L56L|MARK2_ENST00000361128.5_Silent_p.L56L|MARK2_ENST00000408948.3_Silent_p.L23L|MARK2_ENST00000509502.2_Silent_p.L23L|MARK2_ENST00000502399.3_Silent_p.L56L|MARK2_ENST00000315032.8_Silent_p.L56L|MARK2_ENST00000377809.4_Silent_p.L56L|MARK2_ENST00000425897.2_Silent_p.L23L|MARK2_ENST00000513765.2_Silent_p.L23L NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 56 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 ACCGGCTCCTCAAGACCATTG 0.562000 37 30 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53682466 53682466 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr12:53682466C>G ENST00000257934.4 + 20 4782 c.4691C>G c.(4690-4692)tCa>tGa p.S1564* ESPL1_ENST00000552462.1_Nonsense_Mutation_p.S1564* NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1564 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CGGCTCCCCTCAGCCCCCGTA 0.607000 11 49 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17723476 17723477 + RNA INS - - CA rs67024576 by1000genomes TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr1:17723476_17723477insCA ENST00000434762.2 + 0 1669 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGGAATGCACCCAGGTGGCTGG 0.629 7 2 --- --- --- --- NPAS2 4862 broad.mit.edu 37 2 101521216 101521220 + Frame_Shift_Del DEL AATGG AATGG - TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr2:101521216_101521220delAATGG ENST00000542504.1 + 2 197_201 c.195_199delAATGG c.(193-201)ctaatggatfs p.MD66fs NPAS2_ENST00000335681.5_Start_Codon_Del Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 1 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TAGAAAATCTAATGGATGAAGATGA 0.424 7 14 --- --- --- --- ZEB2 9839 broad.mit.edu 37 2 145187411 145187412 + Frame_Shift_Ins INS - - T TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr2:145187411_145187412insT ENST00000558170.2 - 3 1439_1440 c.255_256insA c.(253-258)gaagatfs p.D86fs ZEB2_ENST00000303660.4_Frame_Shift_Ins_p.D86fs|ZEB2_ENST00000409487.3_Frame_Shift_Ins_p.D86fs|ZEB2_ENST00000539609.3_Frame_Shift_Ins_p.D86fs NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 86 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CTTATTTCATCTTCCTCTTCCT 0.530 29 32 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66772495 66772495 + RNA DEL T T - TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr7:66772495delT ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) GCTTGATTCCTTTTTTTTTTT 0.423 2 4 --- --- --- --- SCAI 286205 broad.mit.edu 37 9 127789123 127789124 + Frame_Shift_Del DEL TC TC - TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr9:127789123_127789124delTC ENST00000336505.6 - 6 537_538 c.479_480delGA c.(478-480)agafs p.R160fs SCAI_ENST00000373549.4_Frame_Shift_Del_p.R183fs NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 AATAATATGATCTCTGTCTGAT 0.327 18 66 --- --- --- --- TPM4 7171 broad.mit.edu 37 19 16192768 16192770 + In_Frame_Del DEL GAG GAG - rs114629262 byFrequency TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:16192768_16192770delGAG ENST00000300933.4 + 2 438_440 c.178_180delGAG c.(178-180)gagdel p.E62del TPM4_ENST00000344824.6_In_Frame_Del_p.E98del|TPM4_ENST00000538887.1_In_Frame_Del_p.E98del NM_003290.2 NP_003281.1 P67936 TPM4_HUMAN tropomyosin 4 62 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) breast(1)|large_intestine(3) 4 CCAGCTCGTTGAGGAGGAGTTGG 0.596 T ALK ALCL 17 39 --- --- --- --- ZNF180 7733 broad.mit.edu 37 19 44980777 44980777 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a499fb-4149-4741-a598-6be9709674cf f0bc45ae-3001-41f1-ba88-1ff8e3b1c449 g.chr19:44980777delT ENST00000221327.4 - 5 2202 c.1921delA c.(1921-1923)acafs p.T641fs ZNF180_ENST00000391956.4_Frame_Shift_Del_p.T616fs|ZNF180_ENST00000592529.1_Frame_Shift_Del_p.T614fs NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) AAGCTAAATGTTTTTCCACAC 0.388 18 120 --- --- --- ---