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 ZNF479 90827 broad.mit.edu 37 7 57188621 57188621 + Silent SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr7:57188621A>G ENST00000331162.4 - 5 771 c.501T>C c.(499-501)ggT>ggC p.G167G NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTGAAAATTTACCAAAGACTT 0.299000 8 24 0 0 1 0 0 FAM209B 388799 broad.mit.edu 37 20 55111330 55111330 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr20:55111330G>A ENST00000371325.1 + 2 448 c.352G>A c.(352-354)Gaa>Aaa p.E118K NM_001013646.2 NP_001013668.2 Q5JX69 CT107_HUMAN family with sequence similarity 209, member B 118 integral to membrane TACCTTAAACGAACTTGAAGT 0.443000 20 80 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39874633 39874633 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr6:39874633C>A ENST00000308559.7 - 10 1496 c.1363G>T c.(1363-1365)Gcc>Tcc p.A455S MOCS1_ENST00000373195.3_Missense_Mutation_p.A368S|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.A471S|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000340692.5_Missense_Mutation_p.A471S Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 471 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) CCTGAGGGGGCAGCAGAAGCC 0.582000 28 80 7.26314e-15 8.15511e-15 1 1 0 LRRC16B 90668 broad.mit.edu 37 14 24529927 24529927 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:24529927G>A ENST00000342740.5 + 25 2306 c.2152G>A c.(2152-2154)Gct>Act p.A718T LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 718 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GCTACTCTACGCTCGGGACCT 0.622000 8 20 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127953234 127953234 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr7:127953234G>A ENST00000223073.1 - 18 2253 c.2139C>T c.(2137-2139)tcC>tcT p.S713S RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Silent_p.S572S NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 713 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 TCACCTGCTCGGACGATAATT 0.473000 4 154 0 0 1 0 0 CHAF1B 8208 broad.mit.edu 37 21 37781744 37781744 + Silent SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr21:37781744G>T ENST00000314103.4 + 10 1051 c.900G>T c.(898-900)ctG>ctT p.L300L NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 300 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 ACTTTGAACTGAGGCCAGTGG 0.498000 70 139 1.52378e-38 1.81718e-38 1 1 0 METTL10 399818 broad.mit.edu 37 10 126448978 126448978 + Missense_Mutation SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr10:126448978T>C ENST00000494792.1 - 6 604 c.605A>G c.(604-606)gAg>gGg p.202_202insG METTL10_ENST00000368836.2_3'UTR AGAAAAAGTCTCACATTTTTT 0.403000 19 15 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55702954 55702954 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr11:55702954C>A ENST00000301532.3 - 1 922 c.923G>T c.(922-924)aGa>aTa p.R308I NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TACCTTTGATCTTAGAACTTT 0.343000 7 20 5.18039e-06 5.3475e-06 1 1 0 EIF1AX 1964 broad.mit.edu 37 X 20156731 20156731 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chrX:20156731C>T ENST00000379607.5 - 2 229 c.26G>A c.(25-27)gGt>gAt p.G9D EIF1AX_ENST00000379593.1_Intron NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 9 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TCTGTTTTTACCTCCTTTACC 0.313000 36 9 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18368670 18368670 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr22:18368670C>T ENST00000441493.2 - 16 2567 c.2215G>A c.(2215-2217)Gca>Aca p.A739T MICAL3_ENST00000400561.2_Missense_Mutation_p.A739T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A739T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A739T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A739T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A739T|MICAL3_ENST00000429452.1_Missense_Mutation_p.A739T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A739T NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 739 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) ATGGACTGTGCGGGCGCATTC 0.542000 4 139 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201499611 201499611 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:201499611G>A ENST00000374700.2 + 21 2560 c.2319G>A c.(2317-2319)gtG>gtA p.V773V AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 773 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ATGTCTACGTGTCCACACAGT 0.418000 20 70 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92920295 92920295 + Missense_Mutation SNP T T A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:92920295T>A ENST00000532405.1 + 11 1158 c.932T>A c.(931-933)aTt>aAt p.I311N SLC24A4_ENST00000531433.1_Missense_Mutation_p.I292N|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000393265.2_Missense_Mutation_p.I247N|SLC24A4_ENST00000351924.5_Missense_Mutation_p.I275N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.I294N Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 311 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GTGGACGAGATTATGAGCTCC 0.532000 10 62 0 0 1 0 0 CCDC66 285331 broad.mit.edu 37 3 56649288 56649288 + Nonsense_Mutation SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:56649288A>T ENST00000394672.3 + 12 1769 c.1699A>T c.(1699-1701)Aaa>Taa p.K567* CCDC66_ENST00000326595.7_Nonsense_Mutation_p.K533*|CCDC66_ENST00000436465.2_Nonsense_Mutation_p.K567* NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 567 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TAGACTGATTAAAAATCTTGG 0.368000 25 32 0 0 1 0 0 CIR1 9541 broad.mit.edu 37 2 175213705 175213705 + Missense_Mutation SNP C C G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:175213705C>G ENST00000342016.3 - 10 965 c.873G>C c.(871-873)agG>agC p.R291S CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 291 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 ttcttttcttcctttgtattt 0.383000 21 59 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247053320 247053320 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:247053320C>A ENST00000366508.1 - 17 2333 c.2197G>T c.(2197-2199)Gta>Tta p.V733L AHCTF1_ENST00000391829.2_Missense_Mutation_p.V698L|AHCTF1_ENST00000326225.3_Missense_Mutation_p.V707L|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 698 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTCTGAATTACAGGGTAGTTG 0.338000 35 96 7.91308e-09 8.34786e-09 1 1 0 ANKRD11 29123 broad.mit.edu 37 16 89348160 89348160 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr16:89348160C>T ENST00000301030.4 - 9 5250 c.4790G>A c.(4789-4791)cGc>cAc p.R1597H ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1597H NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1597 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCGCTTGTGGCGCTCCTCGAT 0.622000 4 135 0 0 1 0 0 TNFSF15 9966 broad.mit.edu 37 9 117552979 117552979 + Missense_Mutation SNP C C T rs144487361 TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr9:117552979C>T ENST00000374045.4 - 4 622 c.509G>A c.(508-510)cGa>cAa p.R170Q TNFSF15_ENST00000374044.1_Missense_Mutation_p.R93Q NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 170 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 CTTGTTTGGTCGGCCTGCTTG 0.522000 3 33 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33044516 33044516 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr21:33044516G>A ENST00000286835.7 - 20 3022 c.2640C>T c.(2638-2640)ccC>ccT p.P880P SCAF4_ENST00000434667.3_Silent_p.P865P|SCAF4_ENST00000399804.1_Silent_p.P858P NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 880 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GCGGTGGCATGGGACGGGGCG 0.652000 29 56 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133900553 133900553 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr8:133900553C>T ENST00000220616.4 + 10 2541 c.2501C>T c.(2500-2502)cCg>cTg p.P834L TG_ENST00000377869.1_Missense_Mutation_p.P834L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 834 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GATGTCTTCCCGGTGCTGTCA 0.522000 34 54 0 0 1 0 0 ACTR6 64431 broad.mit.edu 37 12 100601474 100601474 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:100601474G>A ENST00000188312.2 + 4 1054 c.289G>A c.(289-291)Gaa>Aaa p.E97K ACTR6_ENST00000551617.1_Missense_Mutation_p.E15K|ACTR6_ENST00000552376.1_Missense_Mutation_p.E97K|ACTR6_ENST00000546902.1_Missense_Mutation_p.E15K NM_022496.4 NP_071941.1 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog (yeast) 97 cytoplasm|cytoskeleton autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 TATTATCACTGAACCATACTT 0.259000 12 20 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72432954 72432954 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chrX:72432954C>A ENST00000373517.3 - 1 1730 c.1375G>T c.(1375-1377)Gat>Tat p.D459Y NAP1L2_ENST00000536638.1_Missense_Mutation_p.D317Y NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 459 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCTAACGATCAATGTCTTCT 0.348000 16 15 1.3612e-06 1.41271e-06 1 1 0 C9orf3 84909 broad.mit.edu 37 9 97522357 97522357 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr9:97522357G>A ENST00000375315.2 + 1 292 c.292G>A c.(292-294)Gat>Aat p.D98N C9orf3_ENST00000297979.5_Missense_Mutation_p.D98N|C9orf3_ENST00000277198.2_Missense_Mutation_p.D98N NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 98 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GGAATATAATGATTTTGCAAT 0.398000 80 81 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113553483 113553483 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:113553483C>T ENST00000546530.1 - 11 1245 c.960G>A c.(958-960)ggG>ggA p.G320G RASAL1_ENST00000548055.1_Silent_p.G320G|RASAL1_ENST00000261729.5_Silent_p.G320G|RASAL1_ENST00000446861.3_Silent_p.G320G|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 320 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CCAGAAAGCGCCCAGCCAGTC 0.632000 15 19 0 0 1 0 0 ZNF85 7639 broad.mit.edu 37 19 21132403 21132403 + Missense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:21132403G>T ENST00000601023.1 + 2 1552 c.906G>T c.(904-906)gaG>gaT p.E302D ZNF85_ENST00000328178.8_Missense_Mutation_p.E361D|ZNF85_ENST00000345030.6_Missense_Mutation_p.E328D Q03923 ZNF85_HUMAN zinc finger protein 85 361 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 CCACACATGAGGTAATTCATA 0.358000 16 27 4.7546e-09 5.07158e-09 1 1 0 ME2 4200 broad.mit.edu 37 18 48439269 48439269 + Missense_Mutation SNP C C T rs16952692 TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr18:48439269C>T ENST00000321341.5 + 4 613 c.341C>T c.(340-342)cCg>cTg p.P114L ME2_ENST00000382927.3_Missense_Mutation_p.P114L NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 114 P -> L (in dbSNP:rs16952692). malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) GTATATACACCGACGGTTGGT 0.328000 25 52 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119583252 119583252 + Nonsense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:119583252G>T ENST00000267260.4 + 9 1226 c.838G>T c.(838-840)Gga>Tga p.G280* NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 280 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CACCTCGCGAGGACGTTCCCA 0.607000 6 16 3.59834e-05 3.69455e-05 1 1 0 MKRN2 23609 broad.mit.edu 37 3 12623356 12623356 + Nonsense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:12623356G>T ENST00000170447.7 + 7 1155 c.1018G>T c.(1018-1020)Gga>Tga p.G340* MKRN2_ENST00000411987.1_Nonsense_Mutation_p.G297*|MKRN2_ENST00000448482.1_Nonsense_Mutation_p.G338* NM_001271707.1|NM_014160.3 NP_001258636.1|NP_054879.3 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 340 intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 CTGCCCATTTGGAAGCAAATG 0.498000 11 104 0.000673444 0.000687773 1 1 0 FRAS1 80144 broad.mit.edu 37 4 79400835 79400835 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr4:79400835C>T ENST00000264895.6 + 56 8846 c.8406C>T c.(8404-8406)tcC>tcT p.S2802S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2797 Calx-beta 3. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CGACTGTGTCCCTGGGCAACA 0.532000 12 24 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100403871 100403871 + Missense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr8:100403871G>T ENST00000395996.1 + 21 3132 c.3021G>T c.(3019-3021)aaG>aaT p.K1007N VPS13B_ENST00000357162.2_Missense_Mutation_p.K1007N|VPS13B_ENST00000358544.2_Missense_Mutation_p.K1007N Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1007 protein transport p.K1007K(2) 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) CCTTGGCAAAGCAGCAATCAT 0.453000 46 60 6.21074e-16 7.09799e-16 1 1 0 MOCS1 4337 broad.mit.edu 37 6 39874632 39874632 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr6:39874632G>A ENST00000308559.7 - 10 1497 c.1364C>T c.(1363-1365)gCc>gTc p.A455V MOCS1_ENST00000373195.3_Missense_Mutation_p.A368V|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.A471V|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000340692.5_Missense_Mutation_p.A471V Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 471 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) TCCTGAGGGGGCAGCAGAAGC 0.582000 28 81 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168067319 168067319 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:168067319C>T ENST00000409195.1 + 4 726 c.637C>T c.(637-639)Ctc>Ttc p.L213F XIRP2_ENST00000409756.2_Missense_Mutation_p.L213F|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.L246F|XIRP2_ENST00000409043.1_Missense_Mutation_p.L213F|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000295237.9_Missense_Mutation_p.L213F|XIRP2_ENST00000409728.1_Missense_Mutation_p.L246F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 38 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGTGTCAGACCTCCACGAAGT 0.562000 37 92 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121970759 121970759 + Missense_Mutation SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:121970759A>T ENST00000377069.4 - 8 1196 c.790T>A c.(790-792)Tgc>Agc p.C264S KDM2B_ENST00000543852.1_Missense_Mutation_p.C64S|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000536437.1_Missense_Mutation_p.C178S|KDM2B_ENST00000377071.4_Missense_Mutation_p.C295S NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 295 JmjC. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 ATTCTTTGGCATCGTTCCACA 0.552000 32 28 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53069019 53069019 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:53069019G>A ENST00000252244.3 - 9 1951 c.1893C>T c.(1891-1893)agC>agT p.S631S NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 631 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CAAACTTCACGCTGGAACTGC 0.562000 44 133 0 0 1 0 0 GSTM4 2948 broad.mit.edu 37 1 110199045 110199045 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:110199045G>A ENST00000369836.4 + 1 343 c.34G>A c.(34-36)Ggg>Agg p.G12R GSTM4_ENST00000336075.5_Missense_Mutation_p.G12R|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000326729.5_Missense_Mutation_p.G12R NM_000850.4 NP_000841.1 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 12 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) GGACATCCGCGGGGTGAGTGA 0.652000 27 109 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869953 174869953 + Missense_Mutation SNP C C G rs5330 TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr5:174869953C>G ENST00000393752.2 - 2 1142 c.150G>C c.(148-150)agG>agC p.R50S NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 50 R -> S (in dbSNP:rs5330). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GGTGTCGGAACCTGATAACGG 0.572000 19 68 0 0 1 0 0 PAPSS1 9061 broad.mit.edu 37 4 108566209 108566209 + Missense_Mutation SNP G G C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr4:108566209G>C ENST00000265174.4 - 10 1527 c.1255C>G c.(1255-1257)Caa>Gaa p.Q419E NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 419 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) TTGCGTAGTTGAAATGCAAAG 0.433000 15 42 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104309846 104309846 + Missense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr10:104309846G>T ENST00000369902.3 + 3 603 c.437G>T c.(436-438)cGa>cTa p.R146L SUFU_ENST00000369899.2_Missense_Mutation_p.R146L|SUFU_ENST00000423559.2_Missense_Mutation_p.R146L NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 146 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GGCTTGGCACGATACGTGTTC 0.527000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 19 43 1.01871e-10 1.11132e-10 1 1 0 KIF16B 55614 broad.mit.edu 37 20 16359864 16359864 + Missense_Mutation SNP A A C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr20:16359864A>C ENST00000354981.2 - 19 2940 c.2783T>G c.(2782-2784)tTt>tGt p.F928C KIF16B_ENST00000355755.3_Missense_Mutation_p.F928C|KIF16B_ENST00000378003.2_Missense_Mutation_p.F154C|KIF16B_ENST00000408042.1_Missense_Mutation_p.F928C NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 928 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 AAGAATTTCAAATGCTCTCTG 0.438000 22 91 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20444508 20444508 + Silent SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:20444508A>T ENST00000305051.5 + 1 906 c.831A>T c.(829-831)ccA>ccT p.P277P NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTTGGACCATGCATTTTCA 0.438000 27 76 0 0 1 0 0 BMF 90427 broad.mit.edu 37 15 40398126 40398126 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr15:40398126G>A ENST00000354670.4 - 3 396 c.162C>T c.(160-162)caC>caT p.H54H BMF_ENST00000431415.3_Silent_p.H54H|BMF_ENST00000558774.1_Silent_p.H54H|BMF_ENST00000397573.1_Silent_p.H54H|BMF_ENST00000220446.4_Silent_p.H54H|BMF_ENST00000559701.1_Silent_p.H54H|BMF_ENST00000561282.1_Silent_p.H54H|BMF_ENST00000561360.1_Silent_p.H54H NM_001003940.1 NP_001003940.1 Q96LC9 BMF_HUMAN Bcl2 modifying factor 54 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|mitochondrial outer membrane|myosin complex|plasma membrane protein binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516) GGCCACAGCAGTGGGTGAGAG 0.637000 21 63 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4443689 4443689 + Missense_Mutation SNP G G A rs138042708 TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr17:4443689G>A ENST00000254718.4 - 25 3694 c.3388C>T c.(3388-3390)Cgc>Tgc p.R1130C MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1130C Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 1130 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TCGTGCAGGCGGCTGGAGCCG 0.642000 3 42 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43911887 43911887 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:43911887G>A ENST00000562955.1 + 63 8783 c.8783G>A c.(8782-8784)cGg>cAg p.R2928Q SZT2_ENST00000372442.1_Missense_Mutation_p.R2086Q NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2985 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CACCTGCAGCGGGCACTGCCT 0.577000 4 148 0 0 1 0 0 RBL2 5934 broad.mit.edu 37 16 53481001 53481001 + Missense_Mutation SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr16:53481001T>C ENST00000262133.6 + 4 757 c.620T>C c.(619-621)cTt>cCt p.L207P RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 207 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TGTTGGGTGCTTTTTATATAT 0.284000 4 34 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34962546 34962546 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chrX:34962546G>A ENST00000329357.5 + 1 1634 c.1598G>A c.(1597-1599)cGg>cAg p.R533Q NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 533 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AGGAGACGCCGGGCGGCACCG 0.502000 38 17 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49000548 49000548 + Missense_Mutation SNP T T G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr4:49000548T>G ENST00000226432.4 + 6 968 c.785T>G c.(784-786)tTg>tGg p.L262W CWH43_ENST00000513409.1_Missense_Mutation_p.L235W NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 262 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GGTACTGGTTTGATCTGGTGG 0.458000 13 88 0 0 1 0 0 THBD 7056 broad.mit.edu 37 20 23028618 23028618 + Silent SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr20:23028618C>A ENST00000377103.2 - 1 1760 c.1524G>T c.(1522-1524)ccG>ccT p.P508P NM_000361.2 NP_000352.1 P07204 TRBM_HUMAN thrombomodulin 508 blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity endometrium(2)|large_intestine(3)|ovary(1)|skin(1) 7 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) GCCCCACGGCCGGAGGAGTCA 0.682000 24 11 6.21321e-17 7.18637e-17 1 1 0 HOXD3 3232 broad.mit.edu 37 2 177036368 177036368 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:177036368C>A ENST00000468418.3 + 4 2755 c.665C>A c.(664-666)cCg>cAg p.P222Q HOXD3_ENST00000249440.3_Missense_Mutation_p.P222Q|HOXD3_ENST00000410016.1_Missense_Mutation_p.P222Q P31249 HXD3_HUMAN homeobox D3 222 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) TTGTGCCGGCCGCGCCGCGTG 0.597000 24 142 1.10923e-09 1.20323e-09 1 1 0 HAUS5 23354 broad.mit.edu 37 19 36109507 36109507 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:36109507C>T ENST00000203166.5 + 12 947 c.922C>T c.(922-924)Cgg>Tgg p.R308W HAUS5_ENST00000379045.2_Silent_p.S286S NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 308 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 GGTCTCCCAGCGGAGCACCCT 0.642000 49 108 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158619721 158619721 + Nonsense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:158619721C>T ENST00000368148.3 - 25 3674 c.3494G>A c.(3493-3495)tGg>tAg p.W1165* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.W1165* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1165 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAAAGAACCCCAGCGGGAATT 0.448000 4 13 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717515 142717515 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chrX:142717515G>A ENST00000381779.4 - 2 1635 c.1410C>T c.(1408-1410)gaC>gaT p.D470D SLITRK4_ENST00000338017.4_Silent_p.D470D|SLITRK4_ENST00000356928.1_Silent_p.D470D NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 470 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) TTGGCATGGAGTCAAAGGTGC 0.393000 31 16 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 91 0 0 1 0 0 PRR23C 389152 broad.mit.edu 37 3 138762838 138762838 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:138762838G>A ENST00000413199.1 - 1 896 c.625C>T c.(625-627)Cgc>Tgc p.R209C MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.R209C NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C 209 Pro-rich. breast(2)|lung(7)|skin(2) 11 CGTGGAGAGCGTCTCTCTGAA 0.637000 9 21 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21038387 21038387 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr16:21038387G>A ENST00000261383.3 - 38 5501 c.5502C>T c.(5500-5502)ccC>ccT p.P1834P DNAH3_ENST00000415178.1_Silent_p.P1834P NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1834 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CGAGGTCGGCGGGCTCGAAGA 0.567000 14 22 0 0 1 0 0 ODF3L1 161753 broad.mit.edu 37 15 76019675 76019675 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr15:76019675C>A ENST00000332145.2 + 4 842 c.619C>A c.(619-621)Cct>Act p.P207T NM_175881.3 NP_787077.1 Q8IXM7 OD3L1_HUMAN outer dense fiber of sperm tails 3-like 1 207 kidney(1)|lung(1) 2 GTACGCCCGACCTGAGCCATC 0.632000 20 63 8.34094e-07 8.70359e-07 1 1 0 NT5C3B 115024 broad.mit.edu 37 17 39983815 39983815 + Nonsense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr17:39983815C>A ENST00000269534.8 - 8 708 c.607G>T c.(607-609)Gag>Tag p.E203* NT5C3B_ENST00000435506.2_Nonsense_Mutation_p.E211*|NT5C3B_ENST00000521789.1_Intron NM_052935.4 NP_443167.4 5'-nucleotidase, cytosolic IIIB CCAGAGTTCTCACACGCAGAG 0.502000 68 28 5.41809e-49 6.5017e-49 1 1 0 CDK14 5218 broad.mit.edu 37 7 90528663 90528663 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr7:90528663G>A ENST00000406263.1 + 6 1001 c.559G>A c.(559-561)Gtg>Atg p.V187M CDK14_ENST00000380050.3_Missense_Mutation_p.V233M|CDK14_ENST00000436577.2_Missense_Mutation_p.V104M|CDK14_ENST00000265741.3_Missense_Mutation_p.V215M O94921 CDK14_HUMAN cyclin-dependent kinase 14 233 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 TCCAGATAATGTGAAGGTAGG 0.358000 4 10 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47310955 47310955 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr11:47310955G>A ENST00000342922.4 + 16 3024 c.2667G>A c.(2665-2667)gcG>gcA p.A889A MADD_ENST00000407859.3_Silent_p.A866A|MADD_ENST00000406482.1_Silent_p.A846A|MADD_ENST00000349238.3_Silent_p.A909A|MADD_ENST00000402799.1_Silent_p.A846A|MADD_ENST00000402192.2_Silent_p.A889A|MADD_ENST00000395336.3_Silent_p.A909A|MADD_ENST00000395344.3_Silent_p.A846A|MADD_ENST00000311027.5_Silent_p.A909A NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 909 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) ACAGGAGGGCGTTAGTGGATC 0.488000 5 392 0 0 1 0 0 CWC27 10283 broad.mit.edu 37 5 64077858 64077858 + Missense_Mutation SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr5:64077858A>G ENST00000508024.1 + 3 451 c.250A>G c.(250-252)Aaa>Gaa p.K84E CWC27_ENST00000381070.3_Missense_Mutation_p.K84E Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 84 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 AGCGCCATTCAAAGTAAGACT 0.363000 11 18 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890308 23890308 + Missense_Mutation SNP G G C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr15:23890308G>C ENST00000532292.1 - 1 867 c.773C>G c.(772-774)gCc>gGc p.A258G NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGCCTGGGGGGCAGCTGCTGT 0.632000 18 63 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41741077 41741077 + Nonsense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr21:41741077G>A ENST00000400454.1 - 4 1081 c.604C>T c.(604-606)Cga>Tga p.R202* NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 202 Ig-like C2-type 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCGGTGTATCGATGCCGCGTG 0.428000 15 27 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44635586 44635586 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:44635586C>T ENST00000262894.6 + 5 1099 c.819C>T c.(817-819)tcC>tcT p.S273S ZNF225_ENST00000590612.1_Silent_p.S273S|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) TTCATGATTCCCAGCTTCAGG 0.393000 56 104 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582950 55582950 + Missense_Mutation SNP T T A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr10:55582950T>A ENST00000361849.3 - 34 4936 c.4542A>T c.(4540-4542)aaA>aaT p.K1514N PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1509N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.K1512N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1443N|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1489N|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1472N NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1512 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GAAATGTGAATTTTCTTGCAG 0.373000 HNSCC(58;0.16) 23 40 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110777855 110777855 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr6:110777855G>A ENST00000368919.3 - 2 485 c.419C>T c.(418-420)gCg>gTg p.A140V SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.A140V|SLC22A16_ENST00000456137.2_Missense_Mutation_p.A140V|SLC22A16_ENST00000330550.4_Missense_Mutation_p.A106V NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 140 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CTGGGTCACCGCAGTGCTTTT 0.478000 4 100 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205272827 205272827 + Missense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:205272827G>T ENST00000367157.3 - 7 1764 c.1638C>A c.(1636-1638)gaC>gaA p.D546E NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 546 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) ACAGGATGCTGTCCTCGCTCA 0.687000 23 66 1.64293e-13 1.82337e-13 1 1 0 TRPC3 7222 broad.mit.edu 37 4 122824075 122824075 + Missense_Mutation SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr4:122824075A>G ENST00000264811.5 - 8 2594 c.2176T>C c.(2176-2178)Ttt>Ctt p.F726L TRPC3_ENST00000513531.1_Missense_Mutation_p.F671L|TRPC3_ENST00000379645.3_Missense_Mutation_p.F799L NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 714 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CATTTGGGAAAGTTAACAATT 0.368000 3 48 0 0 1 0 0 RRAS 6237 broad.mit.edu 37 19 50139087 50139087 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:50139087G>A ENST00000246792.3 - 5 578 c.476C>T c.(475-477)gCc>gTc p.A159V NM_006270.3 NP_006261.1 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 159 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) GGCGCCGAAGGCAGAGGCTTC 0.657000 19 28 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196274405 196274405 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:196274405C>A ENST00000367433.5 - 21 2583 c.2482G>T c.(2482-2484)Gcc>Tcc p.A828S KCNT2_ENST00000294725.8_Missense_Mutation_p.A852S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.A778S Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 852 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CAGTCTTTGGCTCTGAATTGC 0.363000 5 48 0.014758 0.0148353 1 1 0 ALPP 250 broad.mit.edu 37 2 233245422 233245422 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:233245422C>T ENST00000392027.2 + 8 1224 c.955C>T c.(955-957)Cgc>Tgc p.R319C AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 319 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGCTGCCCTGCGCCTGCTGAG 0.632000 11 35 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207394 58207394 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr13:58207394C>A ENST00000377918.3 + 1 740 c.714C>A c.(712-714)gaC>gaA p.D238E NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 238 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ACTCCAACGACAACAGCCCGG 0.597000 19 62 1.67942e-08 1.76201e-08 1 1 0 MST1 4485 broad.mit.edu 37 3 49723034 49723034 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:49723034C>T ENST00000449682.2 - 11 1743 c.1382G>A c.(1381-1383)cGc>cAc p.R461H MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 447 proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTCACCGCAGCGTCGCAGGGC 0.602000 15 36 0 0 1 0 0 GDF6 392255 broad.mit.edu 37 8 97172889 97172889 + Missense_Mutation SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr8:97172889A>T ENST00000287020.5 - 1 131 c.32T>A c.(31-33)gTc>gAc p.V11D NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 11 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) GATGAGGAAGACGGCCGAGAG 0.667000 27 97 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61026510 61026510 + Silent SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr11:61026510T>C ENST00000335613.5 - 20 2891 c.2505A>G c.(2503-2505)ccA>ccG p.P835P VWCE_ENST00000535710.1_Silent_p.P300P NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 835 Pro-rich. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CAGGCTCCCCTGGGAAAGTGG 0.597000 38 56 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182141 140182141 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr5:140182141G>A ENST00000522353.2 + 1 1359 c.1359G>A c.(1357-1359)ccG>ccA p.P453P PCDHA3_ENST00000532566.2_Silent_p.P453P|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAATGCGCCGGCATTCTCGC 0.662000 4 165 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109098191 109098191 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:109098191G>A ENST00000309863.6 + 10 3813 c.3099G>A c.(3097-3099)ctG>ctA p.L1033L NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1033 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 CAGAGCAACTGGATGTGGAAA 0.303000 10 37 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36192435 36192435 + Missense_Mutation SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:36192435A>T ENST00000258840.6 - 15 2292 c.1902T>A c.(1900-1902)aaT>aaA p.N634K RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.N634K|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.N634K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.N634K Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 634 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGATGTACACATTTAGGTTTG 0.393000 13 33 0 0 1 0 0 B3GAT3 26229 broad.mit.edu 37 11 62384203 62384203 + Silent SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr11:62384203G>T ENST00000531383.1 - 4 890 c.684C>A c.(682-684)ggC>ggA p.G228G B3GAT3_ENST00000534026.1_Silent_p.G228G|B3GAT3_ENST00000265471.5_Silent_p.G228G O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 228 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 GTACCTGAGGGCCCTCGAATC 0.652000 12 48 7.03913e-09 7.46692e-09 1 1 0 POSTN 10631 broad.mit.edu 37 13 38164636 38164636 + Missense_Mutation SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr13:38164636A>T ENST00000379747.4 - 4 431 c.314T>A c.(313-315)cTg>cAg p.L105Q POSTN_ENST00000541481.1_Missense_Mutation_p.L105Q|POSTN_ENST00000379742.4_Missense_Mutation_p.L105Q|POSTN_ENST00000379743.4_Missense_Mutation_p.L105Q|POSTN_ENST00000379749.4_Missense_Mutation_p.L105Q|POSTN_ENST00000541179.1_Missense_Mutation_p.L105Q NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 105 FAS1 1. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CACGATGCCCAGAGTGCCATA 0.438000 19 9 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213947 102213947 + Missense_Mutation SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr8:102213947A>T ENST00000520347.1 - 2 2979 c.23T>A c.(22-24)aTt>aAt p.I8N ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N Q9Y5V0 ZN706_HUMAN zinc finger protein 706 8 intracellular zinc ion binding large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGAGACTGAATTTTCTGCTG 0.393000 9 78 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855241 53855241 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:53855241C>T ENST00000458035.1 + 4 1430 c.1313C>T c.(1312-1314)cCt>cTt p.P438L ZNF845_ENST00000595091.1_Missense_Mutation_p.P438L NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GGAGAGAAACCTTACAAATGT 0.378000 34 96 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53781384 53781384 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:53781384C>T ENST00000288139.3 + 27 3401 c.3283C>T c.(3283-3285)Cgg>Tgg p.R1095W CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1075W|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1075W NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1075 Dihydropyridine binding (By similarity). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGTCCGTGAACGGATCTGGCA 0.517000 23 72 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166020938 166020938 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:166020938G>A ENST00000360093.3 - 6 1057 c.566C>T c.(565-567)cCa>cTa p.P189L SCN3A_ENST00000283254.7_Missense_Mutation_p.P189L|SCN3A_ENST00000409101.3_Missense_Mutation_p.P189L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 189 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCAGTTCCATGGATCACGAAG 0.378000 14 38 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21956456 21956456 + Silent SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr7:21956456A>G ENST00000406877.3 - 2 360 c.81T>C c.(79-81)gtT>gtC p.V27V CDCA7L_ENST00000356195.5_5'UTR|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Silent_p.V27V NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 27 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CTCGGAAGCCAACAAACTCTT 0.463000 29 231 0 0 1 0 0 PRR23C 389152 broad.mit.edu 37 3 138762753 138762753 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:138762753G>A ENST00000413199.1 - 1 981 c.710C>T c.(709-711)cCg>cTg p.P237L MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.P237L NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C 237 Pro-rich. breast(2)|lung(7)|skin(2) 11 ACCTGGACTCGGAGAGGGAGG 0.627000 5 14 0 0 1 0 0 DCAF5 8816 broad.mit.edu 37 14 69521673 69521673 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:69521673C>T ENST00000341516.5 - 9 1877 c.1730G>A c.(1729-1731)cGc>cAc p.R577H DCAF5_ENST00000556847.1_Missense_Mutation_p.R495H|DCAF5_ENST00000557386.1_Missense_Mutation_p.R576H|DCAF5_ENST00000554215.1_Missense_Mutation_p.R495H NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 577 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 AGAGGCTCGGCGTTCATTCAG 0.582000 10 108 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48637295 48637295 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:48637295G>A ENST00000263274.7 - 17 1971 c.1552C>T c.(1552-1554)Ccc>Tcc p.P518S LIG1_ENST00000536218.1_Missense_Mutation_p.P450S|LIG1_ENST00000427526.2_Missense_Mutation_p.P487S NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 518 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) AGCAGCACGGGGATAATTCGG 0.632000 Nucleotide excision repair (NER) 3 1 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114304133 114304133 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr9:114304133C>T ENST00000309235.5 + 6 1076 c.918C>T c.(916-918)ccC>ccT p.P306P ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 306 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 ATAAAAGCCCCTTTGGACATA 0.393000 56 162 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G C rs28934573 TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr17:7577559G>C ENST00000420246.2 - 7 854 c.722C>G c.(721-723)tCc>tGc p.S241C TP53_ENST00000445888.2_Missense_Mutation_p.S241C|TP53_ENST00000455263.2_Missense_Mutation_p.S241C|TP53_ENST00000359597.4_Missense_Mutation_p.S241C|TP53_ENST00000269305.4_Missense_Mutation_p.S241C|TP53_ENST00000413465.2_Missense_Mutation_p.S241C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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) GCCCATGCAGGAACTGTTACA 0.572000 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) 49 10 0 0 1 0 0 ADK 132 broad.mit.edu 37 10 76360239 76360239 + Missense_Mutation SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr10:76360239A>G ENST00000372734.3 + 9 1001 c.814A>G c.(814-816)Ata>Gta p.I272V ADK_ENST00000539909.1_Missense_Mutation_p.I232V|ADK_ENST00000286621.2_Missense_Mutation_p.I289V|ADK_ENST00000541550.1_Missense_Mutation_p.I254V NM_001123.3|NM_001202449.1 NP_001114.2|NP_001189378.1 P55263 ADK_HUMAN adenosine kinase 289 purine base metabolic process|purine ribonucleoside salvage cytosol adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 8 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811) AGATGACACTATAATGGCTAC 0.348000 14 22 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129131155 129131155 + Missense_Mutation SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr4:129131155A>T ENST00000326639.6 + 20 2903 c.2692A>T c.(2692-2694)Ata>Tta p.I898L LARP1B_ENST00000354456.3_Intron|LARP1B_ENST00000264584.5_Missense_Mutation_p.I839L|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000506199.1_Intron NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 898 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TCAGGTACCAATAAACTCTCC 0.448000 35 325 0 0 1 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48608635 48608635 + Silent SNP A A C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:48608635A>C ENST00000354276.3 - 3 402 c.75T>G c.(73-75)ctT>ctG p.L25L PLA2G4C_ENST00000599111.1_Silent_p.L35L|PLA2G4C_ENST00000599921.1_Silent_p.L25L|PLA2G4C_ENST00000413144.2_Silent_p.L25L NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 25 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TCAGCACATGAAGTCTTCGTC 0.517000 97 96 0 0 1 0 0 POU4F2 5458 broad.mit.edu 37 4 147561255 147561255 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr4:147561255C>T ENST00000281321.3 + 2 773 c.525C>T c.(523-525)caC>caT p.H175H NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 175 Poly-His. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) accaccaccaccatcaccacc 0.682000 3 28 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22947044 22947044 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr15:22947044G>A ENST00000313077.7 + 13 1442 c.1317G>A c.(1315-1317)acG>acA p.T439T CYFIP1_ENST00000560848.1_Silent_p.T439T NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 439 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) AGCGTGCCACGCGCTACAACT 0.572000 19 128 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25319725 25319725 + Splice_Site SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr8:25319725G>T ENST00000330560.3 + 4 864 c.e4+1 CDCA2_ENST00000380665.3_Splice_Site NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TCCTTCCCAGGTATGATTTTC 0.413000 10 30 1.11149e-13 1.24073e-13 1 1 0 PCDH1 5097 broad.mit.edu 37 5 141243498 141243498 + Missense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr5:141243498G>T ENST00000287008.3 - 3 2545 c.2398C>A c.(2398-2400)Ccc>Acc p.P800T PCDH1_ENST00000456271.1_Missense_Mutation_p.P788T|PCDH1_ENST00000536585.1_Missense_Mutation_p.P778T|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Missense_Mutation_p.P800T NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 800 Cadherin 7. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TAGCGTGGGGGCTTGCCGCGG 0.617000 36 42 3.86903e-22 4.55738e-22 1 1 0 OR2W1 26692 broad.mit.edu 37 6 29012233 29012233 + Silent SNP G G C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr6:29012233G>C ENST00000377175.1 - 1 784 c.720C>G c.(718-720)acC>acG p.T240T NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 GAGATCCACAGGTATTCATTG 0.438000 35 123 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8717816 8717816 + Missense_Mutation SNP G G C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr20:8717816G>C ENST00000378641.3 + 20 2660 c.2185G>C c.(2185-2187)Gaa>Caa p.E729Q PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E729Q|PLCB1_ENST00000378637.2_Missense_Mutation_p.E729Q NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 729 C2. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGTCTGGGAAGAAGAACCTAT 0.378000 15 92 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189159 50189159 + Silent SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:50189159A>T ENST00000335999.6 - 8 2685 c.2484T>A c.(2482-2484)ccT>ccA p.P828P NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 824 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CCCCAGGTCGAGGCACCACCT 0.627000 20 59 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12647528 12647528 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr17:12647528G>A ENST00000425538.1 + 8 946 c.746G>A c.(745-747)cGc>cAc p.R249H MYOCD_ENST00000395988.1_Missense_Mutation_p.R153H|MYOCD_ENST00000343344.4_Missense_Mutation_p.R249H NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 249 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGTAAGAACCGCCACAAAAAG 0.473000 14 32 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28909738 28909738 + Missense_Mutation SNP T T G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr16:28909738T>G ENST00000395503.4 + 14 1914 c.1730T>G c.(1729-1731)gTc>gGc p.V577G ATP2A1_ENST00000357084.3_Missense_Mutation_p.V577G|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V452G NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 577 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GAGGAAATGGTCCTGGATGAC 0.642000 20 36 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70925552 70925552 + Missense_Mutation SNP T T A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:70925552T>A ENST00000603540.1 + 2 1594 c.1336T>A c.(1336-1338)Tgt>Agt p.C446S RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.C446S NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 446 Disintegrin. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGGGGCTGCCTGTGCTTTTGG 0.498000 20 58 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 83635273 83635273 + Silent SNP G G C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr10:83635273G>C ENST00000404547.1 + 1 177 c.177G>C c.(175-177)gtG>gtC p.V59V NRG3_ENST00000372141.2_Silent_p.V59V P56975 NRG3_HUMAN neuregulin 3 59 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity 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) ACTGCATCGTGTGGAACCGGC 0.711000 8 11 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120008774 120008774 + Missense_Mutation SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chrX:120008774A>T ENST00000371311.3 - 1 1005 c.751T>A c.(751-753)Tca>Aca p.S251T NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 251 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GCCTCCTCTGAGGTCGGTTCC 0.701000 106 29 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18523812 18523812 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr20:18523812G>A ENST00000336714.3 + 14 2093 c.1661G>A c.(1660-1662)cGa>cAa p.R554Q SEC23B_ENST00000377465.1_Missense_Mutation_p.R554Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.R554Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.R554Q NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 554 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 CAACTCATCCGACTGGTAAAT 0.507000 97 80 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285684 238285684 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:238285684C>T ENST00000295550.4 - 7 3253 c.2801G>A c.(2800-2802)aGc>aAc p.S934N COL6A3_ENST00000392004.3_Missense_Mutation_p.S728N|COL6A3_ENST00000392003.2_Missense_Mutation_p.S527N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S733N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S728N|COL6A3_ENST00000472056.1_Missense_Mutation_p.S327N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S734N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S728N NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 934 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCGATCCGGCTGCCAGCAGA 0.542000 24 56 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616692 77616692 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr8:77616692C>T ENST00000521891.2 + 2 817 c.369C>T c.(367-369)gaC>gaT p.D123D ZFHX4_ENST00000050961.6_Silent_p.D123D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.D123D|ZFHX4_ENST00000455469.2_Silent_p.D123D NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 123 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGGACAGTGACGTGGAAAATC 0.493000 HNSCC(33;0.089) 65 47 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50600867 50600867 + Nonsense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:50600867G>A ENST00000216373.5 - 19 3323 c.3049C>T c.(3049-3051)Cga>Tga p.R1017* SOS2_ENST00000543680.1_Nonsense_Mutation_p.R984* NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 1017 Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) TTGCAGTTTCGAGGTTCAATT 0.323000 4 150 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95927582 95927582 + Missense_Mutation SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:95927582A>G ENST00000258499.3 - 2 739 c.451T>C c.(451-453)Tgg>Cgg p.W151R USP44_ENST00000552440.1_Missense_Mutation_p.W151R|USP44_ENST00000537435.2_Missense_Mutation_p.W151R|USP44_ENST00000393091.2_Missense_Mutation_p.W151R NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 151 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 CTCCTGTGCCAAAGAGCAGTA 0.393000 20 50 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7750719 7750719 + Silent SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr17:7750719T>C ENST00000254846.5 + 10 1595 c.1206T>C c.(1204-1206)agT>agC p.S402S KDM6B_ENST00000448097.2_Silent_p.S402S NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 402 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 gcagcagcagtagcagcagca 0.657000 24 84 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76755393 76755393 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr18:76755393G>A ENST00000536229.3 + 2 3496 c.2787G>A c.(2785-2787)acG>acA p.T929T SALL3_ENST00000537592.2_Silent_p.T1134T|SALL3_ENST00000575389.2_Silent_p.T1062T Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ATGAGCGCACGCACACCGGCG 0.682000 7 4 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94929634 94929634 + Splice_Site SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:94929634C>A ENST00000337425.5 - 5 1179 c.e5-1 SERPINA9_ENST00000298845.7_Splice_Site|SERPINA9_ENST00000424550.2_Splice_Site|SERPINA9_ENST00000448305.2_Splice_Site|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000380365.3_Splice_Site NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) TGTGGGTTGCCTGCCAAGGGA 0.502000 32 26 1.08312e-15 1.23053e-15 1 1 0 FYTTD1 84248 broad.mit.edu 37 3 197497115 197497115 + Splice_Site SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:197497115A>G ENST00000428395.2 + 5 657 c.224_splice c.e5+1 p.K75_splice FYTTD1_ENST00000415708.2_Splice_Site_p.K140_splice|FYTTD1_ENST00000241502.3_Splice_Site_p.K166_splice|FYTTD1_ENST00000424384.2_Splice_Site_p.K99_splice NM_001011537.2 NP_001011537.2 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 166 mRNA export from nucleus nuclear speck mRNA binding|protein binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) CTAAGCAGAAAGTAAGTGCTC 0.363000 13 39 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50054268 50054268 + Silent SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chrX:50054268A>G ENST00000376042.1 + 6 3397 c.3099A>G c.(3097-3099)ttA>ttG p.L1033L CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L1033L|CCNB3_ENST00000376038.1_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 1033 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CATTGGCCTTACAAGAGAGTC 0.478000 37 15 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176562 57176562 + Missense_Mutation SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:57176562T>C ENST00000537055.2 - 2 236 c.5A>G c.(4-6)gAg>gGg p.E2G NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CAAGAGTCCCTCCATCCTCGA 0.498000 12 45 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86468447 86468447 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr7:86468447C>T ENST00000361669.2 + 4 2716 c.1617C>T c.(1615-1617)taC>taT p.Y539Y GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.Y131Y|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Silent_p.Y411Y NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 539 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCTACGAATACCTGGCTGATG 0.532000 77 70 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135385250 135385250 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr5:135385250C>T ENST00000442011.2 + 7 1055 c.894C>T c.(892-894)ggC>ggT p.G298G TGFBI_ENST00000305126.8_Silent_p.G298G NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 298 FAS1 2. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding p.G298G(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTATCCTGGGCGACCCAGAAG 0.542000 3 24 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57287809 57287809 + Nonsense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr17:57287809C>T ENST00000543872.2 + 2 661 c.397C>T c.(397-399)Cag>Tag p.Q133* SMG8_ENST00000578922.1_Nonsense_Mutation_p.Q133*|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Nonsense_Mutation_p.Q133*|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 133 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GGCAGGCTCCCAGGACTACAG 0.597000 4 38 0 0 1 0 0 CYB5R4 51167 broad.mit.edu 37 6 84665107 84665107 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr6:84665107G>A ENST00000369681.4 + 15 1577 c.1437G>A c.(1435-1437)ttG>ttA p.L479L NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 479 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) CTGAATTTTTGAAAAGAAATT 0.393000 24 46 0 0 1 0 0 UBE3A 7337 broad.mit.edu 37 15 25585277 25585277 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr15:25585277C>T ENST00000232165.3 - 12 3109 c.2453G>A c.(2452-2454)gGa>gAa p.G818E UBE3A_ENST00000428984.2_Missense_Mutation_p.G798E|UBE3A_ENST00000438097.1_Missense_Mutation_p.G798E|UBE3A_ENST00000566215.1_Missense_Mutation_p.G798E|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.G821E NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 821 HECT. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) CTTTAATTTTCCTAGTCCTCC 0.413000 15 61 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31856267 31856267 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr6:31856267G>A ENST00000395728.3 - 11 1552 c.1553C>T c.(1552-1554)gCc>gTc p.A518V EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.A484V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A427V|EHMT2_ENST00000375537.4_Missense_Mutation_p.A461V Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 461 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GAGGATGGCGGCATTGCAGCC 0.662000 3 35 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56949990 56949990 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr11:56949990G>A ENST00000497933.1 + 1 770 c.623G>A c.(622-624)cGa>cAa p.R208Q NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 178 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 ATGCAGCTCCGAGACCTGGAC 0.647000 27 99 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183094593 183094593 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:183094593G>A ENST00000258341.4 + 15 2966 c.2709G>A c.(2707-2709)ggG>ggA p.G903G LAMC1_ENST00000466964.1_3'UTR NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 903 Laminin EGF-like 9. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCGTGACGGGGCAGTGTGAAT 0.527000 61 46 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71491651 71491651 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr9:71491651G>A ENST00000265382.3 + 6 564 c.259G>A c.(259-261)Gct>Act p.A87T PIP5K1B_ENST00000541509.1_Missense_Mutation_p.A87T NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 87 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) TAAGACATACGCTCCATTAGC 0.378000 26 55 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21789467 21789467 + Missense_Mutation SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:21789467A>G ENST00000206660.6 + 12 1517 c.1517A>G c.(1516-1518)aAt>aGt p.N506S RPGRIP1_ENST00000557771.1_Missense_Mutation_p.N479S|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.N479S|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.N506S|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.N148S Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 506 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CAGGTGCTAAATGAGTTGCAA 0.428000 17 23 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67431139 67431139 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr11:67431139C>T ENST00000349015.3 - 9 1405 c.967G>A c.(967-969)Gga>Aga p.G323R ALDH3B2_ENST00000530069.1_Missense_Mutation_p.G323R NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 323 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) CCACCGACTCCCCCGAATGGC 0.582000 7 42 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63477029 63477029 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr18:63477029C>A ENST00000536984.2 + 3 994 c.300C>A c.(298-300)aaC>aaA p.N100K CDH7_ENST00000323011.3_Missense_Mutation_p.N100K|CDH7_ENST00000397968.2_Missense_Mutation_p.N100K Q9ULB5 CADH7_HUMAN cadherin 7, type 2 100 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TTGATGAGAACACTGGGGATA 0.483000 24 31 3.01185e-09 3.24874e-09 1 1 0 ERBB2 2064 broad.mit.edu 37 17 37882904 37882904 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr17:37882904G>A ENST00000406381.2 + 26 3382 c.2872G>A c.(2872-2874)Gtc>Atc p.V958I ERBB2_ENST00000269571.5_Missense_Mutation_p.V988I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V958I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V973I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V958I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V988I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V712I NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 988 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GCGCTTTGTGGTCATCCAGGT 0.602000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 7 56 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71946906 71946906 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr11:71946906C>T ENST00000541756.1 + 25 2959 c.2029C>T c.(2029-2031)Cca>Tca p.P677S INPPL1_ENST00000298229.2_Missense_Mutation_p.P919S|INPPL1_ENST00000538751.1_Missense_Mutation_p.P677S O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 919 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GAGCCGCAAGCCAGCCTTCAC 0.612000 4 81 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62598610 62598610 + Missense_Mutation SNP G G C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr4:62598610G>C ENST00000512091.1 + 7 1280 c.533G>C c.(532-534)aGa>aCa p.R178T LPHN3_ENST00000514591.1_Missense_Mutation_p.R178T|LPHN3_ENST00000507164.1_Missense_Mutation_p.R246T|LPHN3_ENST00000514157.1_Missense_Mutation_p.R178T|LPHN3_ENST00000511324.1_Missense_Mutation_p.R246T|LPHN3_ENST00000506746.1_Missense_Mutation_p.R246T|LPHN3_ENST00000545650.1_Missense_Mutation_p.R178T|LPHN3_ENST00000506720.1_Missense_Mutation_p.R246T|LPHN3_ENST00000504896.1_Missense_Mutation_p.R178T|LPHN3_ENST00000507625.1_Missense_Mutation_p.R246T|LPHN3_ENST00000509896.1_Missense_Mutation_p.R246T|LPHN3_ENST00000514996.1_Missense_Mutation_p.R178T|LPHN3_ENST00000506700.1_Missense_Mutation_p.R178T|LPHN3_ENST00000508693.1_Missense_Mutation_p.R246T|LPHN3_ENST00000508946.1_Missense_Mutation_p.R178T Q9HAR2 LPHN3_HUMAN latrophilin 3 178 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ACTCCCTACAGAACTGATACC 0.483000 15 43 0 0 1 0 0 ACTN4 81 broad.mit.edu 37 19 39219731 39219731 + Missense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:39219731G>T ENST00000252699.2 + 20 2590 c.2514G>T c.(2512-2514)gaG>gaT p.E838D ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Missense_Mutation_p.E448D|ACTN4_ENST00000390009.3_Missense_Mutation_p.E619D NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 838 EF-hand 2. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGTCGCGGGAGACCACCGACA 0.612000 14 159 4.7546e-09 5.07158e-09 1 1 0 XKR4 114786 broad.mit.edu 37 8 56015384 56015384 + Nonsense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr8:56015384C>A ENST00000327381.5 + 1 436 c.336C>A c.(334-336)tgC>tgA p.C112* NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 112 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TGTGGGACTGCCTCTGGATCC 0.751000 24 35 3.6726e-16 4.22239e-16 1 1 0 GPR17 2840 broad.mit.edu 37 2 128408482 128408482 + Missense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:128408482G>A ENST00000544369.1 + 4 868 c.257G>A c.(256-258)cGa>cAa p.R86Q LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.R86Q|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.R86Q|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 86 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) CTTTTCATCCGAGACCACAAG 0.587000 83 84 0 0 1 0 0 COLEC10 10584 broad.mit.edu 37 8 120118212 120118212 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr8:120118212C>T ENST00000332843.2 + 6 657 c.616C>T c.(616-618)Cgg>Tgg p.R206W NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 206 C-type lectin. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) TGGCTTCTTTCGGGTGTTCAT 0.517000 52 54 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126086270 126086270 + Missense_Mutation SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr7:126086270C>A ENST00000339582.2 - 10 3395 c.2587G>T c.(2587-2589)Gcc>Tcc p.A863S GRM8_ENST00000444921.2_Missense_Mutation_p.A863S|GRM8_ENST00000358373.3_Missense_Mutation_p.A863S O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 863 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGCATGGTGGCAGCTGTCACC 0.423000 HNSCC(24;0.065) 35 110 1.836e-18 2.13644e-18 1 1 0 PAXIP1 22976 broad.mit.edu 37 7 154746133 154746133 + Splice_Site SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr7:154746133T>C ENST00000404141.1 - 16 2807 c.2652_splice c.e16-1 p.K885_splice PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Splice_Site_p.K885_splice Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 885 BRCT 5.|Interaction with TP53BP1. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) ATGTAGAGCTTCTAAAGGTCA 0.483000 7 25 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29519891 29519891 + Missense_Mutation SNP C C G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:29519891C>G ENST00000389048.3 - 9 2586 c.1680G>C c.(1678-1680)ttG>ttC p.L560F ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 560 MAM 2. L -> F (in a breast pleomorphic lobular carcinoma sample; somatic mutation). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.L560L(1)|p.L560F(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CGTTTCCCCTCAAGACTCCAC 0.547000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 34 45 0 0 1 0 0 GSTM4 2948 broad.mit.edu 37 1 110199046 110199046 + Splice_Site SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:110199046G>A ENST00000369836.4 + 1 344 c.36_splice c.e1+1 p.G12_splice GSTM4_ENST00000336075.5_Splice_Site_p.G12_splice|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000326729.5_Splice_Site_p.G12_splice NM_000850.4 NP_000841.1 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 12 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) GACATCCGCGGGGTGAGTGAG 0.652000 27 106 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155529728 155529728 + Silent SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr4:155529728A>G ENST00000404648.3 - 7 980 c.741T>C c.(739-741)acT>acC p.T247T FGG_ENST00000336098.3_Silent_p.T247T|FGG_ENST00000407946.1_Silent_p.T255T|FGG_ENST00000405164.1_Silent_p.T255T NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 247 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CTGTTGTGCCAGTAGGAGACA 0.388000 13 60 0 0 1 0 0 CRBN 51185 broad.mit.edu 37 3 3215894 3215894 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:3215894C>T ENST00000231948.4 - 3 248 c.226G>A c.(226-228)Gac>Aac p.D76N CRBN_ENST00000432408.2_Missense_Mutation_p.D75N NM_016302.3 NP_057386.2 Q96SW2 CRBN_HUMAN cereblon 76 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus ATP-dependent peptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 11 Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079) TGACAGCTGTCGTCATCGTGC 0.398000 14 38 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1325745 1325745 + Missense_Mutation SNP G G C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:1325745G>C ENST00000400809.3 - 8 876 c.871C>G c.(871-873)Ctc>Gtc p.L291V CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.L69V NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 291 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) AGGTGTGTGAGATCAACCTGC 0.517000 28 55 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25230329 25230329 + RNA SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr15:25230329C>T ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 TACTGTCAGTCTAAGGACTCA 0.393000 10 31 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 6 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 69954473 69954473 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr11:69954473G>A ENST00000355303.5 + 6 1067 c.762G>A c.(760-762)ttG>ttA p.L254L ANO1_ENST00000398543.2_Silent_p.L138L|ANO1_ENST00000538023.1_Silent_p.L254L|ANO1_ENST00000531349.1_5'UTR|ANO1_ENST00000530676.1_Silent_p.L138L|ANO1_ENST00000316296.5_Silent_p.L226L NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 254 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 ATGAGATCTTGAAGAGAACGA 0.502000 23 252 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23191872 23191872 + RNA SNP T T A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr15:23191872T>A ENST00000400153.2 - 0 1824 NR_003521.1 TATCTTATGCTTTCTTCAGCC 0.418000 15 65 0 0 1 0 0 RGS18 64407 broad.mit.edu 37 1 192153626 192153626 + Missense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:192153626G>T ENST00000367460.3 + 5 831 c.650G>T c.(649-651)cGc>cTc p.R217L NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 217 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGACGATCACGCTCATTTACC 0.348000 20 46 3.51602e-12 3.85757e-12 1 1 0 ZNF491 126069 broad.mit.edu 37 19 11917357 11917357 + Missense_Mutation SNP A A C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:11917357A>C ENST00000323169.5 + 3 920 c.589A>C c.(589-591)Aat>Cat p.N197H ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 GAAATCATTCAATTTTTCCAG 0.433000 14 26 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56190148 56190148 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr19:56190148C>T ENST00000411543.2 + 3 1035 c.488C>T c.(487-489)gCc>gTc p.A163V EPN1_ENST00000270460.6_Missense_Mutation_p.A52V|EPN1_ENST00000085079.7_Missense_Mutation_p.A52V NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 52 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) AACGTTGTCGCCTTCTCGGAG 0.582000 18 40 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378104 19378104 + Missense_Mutation SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:19378104T>C ENST00000550708.1 + 1 583 c.511T>C c.(511-513)Ttc>Ctc p.F171L NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTTCTGTGGTTCCTGATCCC 0.488000 24 329 0 0 1 0 0 C17orf53 78995 broad.mit.edu 37 17 42226060 42226060 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr17:42226060C>T ENST00000319977.4 + 3 1126 c.889C>T c.(889-891)Cct>Tct p.P297S C17orf53_ENST00000585683.1_Missense_Mutation_p.P297S|C17orf53_ENST00000245382.6_Missense_Mutation_p.P297S NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 297 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) AAATCGTTTCCCTTGTCAGCC 0.527000 126 124 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30872091 30872091 + Silent SNP A A C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:30872091A>C ENST00000251071.5 - 13 2967 c.2217T>G c.(2215-2217)tcT>tcG p.S739S CAPRIN2_ENST00000417045.1_Silent_p.S739S|CAPRIN2_ENST00000308433.5_Silent_p.S406S|CAPRIN2_ENST00000395805.2_Silent_p.S704S|CAPRIN2_ENST00000298892.5_Intron NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 739 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) AGCCCTGTTCAGAGCCCTTTG 0.498000 56 441 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70541926 70541926 + Missense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:70541926G>T ENST00000310961.5 + 24 4575 c.4157G>T c.(4156-4158)gGa>gTa p.G1386V LRRC7_ENST00000415775.2_Missense_Mutation_p.G712V|LRRC7_ENST00000035383.5_Missense_Mutation_p.G1428V Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1428 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CCTCAGCCTGGACGGTGCTTA 0.438000 20 82 2.37509e-13 2.62079e-13 1 1 0 FAM86JP 100125556 broad.mit.edu 37 3 125643926 125643926 + RNA SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:125643926C>A ENST00000485843.1 + 0 450 NR_024251.1 GTCCGCAACCCAGAGACATGC 0.657000 31 73 2.08457e-15 2.35434e-15 1 1 0 RNF113B 140432 broad.mit.edu 37 13 98829181 98829181 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr13:98829181C>T ENST00000267291.6 - 1 338 c.310G>A c.(310-312)Ggg>Agg p.G104R FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 104 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TCCTCTGGCCCCACAGGCTTC 0.687000 24 37 0 0 1 0 0 PLBD2 196463 broad.mit.edu 37 12 113826348 113826348 + Missense_Mutation SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:113826348A>T ENST00000280800.3 + 12 1718 c.1687A>T c.(1687-1689)Agc>Tgc p.S563C PLBD2_ENST00000545182.2_Missense_Mutation_p.S531C NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 563 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GTTCCAGTGGAGCACCTCGCC 0.647000 5 14 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20278851 20278851 + Silent SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr20:20278851G>A ENST00000245957.5 + 25 3319 c.3243G>A c.(3241-3243)gcG>gcA p.A1081A C20orf26_ENST00000377309.2_3'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 1081 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CCGGCAGTGCGAAAAATGGGA 0.428000 25 65 0 0 1 0 0 PABPC1 26986 broad.mit.edu 37 8 101717845 101717845 + Silent SNP G G A rs138307186 TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr8:101717845G>A ENST00000318607.5 - 12 2787 c.1659C>T c.(1657-1659)gcC>gcT p.A553A PABPC1_ENST00000519004.1_Silent_p.A508A|PABPC1_ENST00000522387.1_Silent_p.A521A NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 553 PABC. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CTTGAGGAGGGGCAGATGCCA 0.428000 6 48 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3761502 3761502 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:3761502C>T ENST00000378230.3 - 6 859 c.535G>A c.(535-537)Gag>Aag p.E179K CEP104_ENST00000378223.3_Missense_Mutation_p.E179K NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 179 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 GCAGGGTCCTCGCTGTTGTGC 0.478000 9 44 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94155053 94155053 + Missense_Mutation SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:94155053T>C ENST00000553484.1 + 46 7289 c.7135T>C c.(7135-7137)Ttt>Ctt p.F2379L UNC79_ENST00000555664.1_Missense_Mutation_p.F2318L|UNC79_ENST00000256339.4_Missense_Mutation_p.F2180L|UNC79_ENST00000393151.2_Missense_Mutation_p.F2357L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2357 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGAAGATACCTTTGGGGGACA 0.507000 20 58 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215963407 215963407 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:215963407C>T ENST00000366943.2 - 51 10562 c.10176G>A c.(10174-10176)atG>atA p.M3392I USH2A_ENST00000307340.3_Missense_Mutation_p.M3392I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3392 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.M3392I(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTACCTTCATCATCATTCCAG 0.333000 HNSCC(13;0.011) 9 37 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50147090 50147090 + Missense_Mutation SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:50147090A>G ENST00000347869.3 + 15 1422 c.1247A>G c.(1246-1248)tAt>tGt p.Y416C RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 416 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCTCAGCTGTATAATCAAACC 0.473000 54 102 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184629643 184629643 + Silent SNP A A G rs113269326 byFrequency TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr4:184629643A>G ENST00000334690.6 + 29 3475 c.3273A>G c.(3271-3273)ccA>ccG p.P1091P TRAPPC11_ENST00000357207.4_Intron|TRAPPC11_ENST00000512476.1_Silent_p.P697P NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 1091 AGCAGCTGCCATCTCTCAACA 0.413000 22 35 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79708024 79708024 + Missense_Mutation SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr6:79708024T>C ENST00000275034.4 - 18 2131 c.1964A>G c.(1963-1965)gAc>gGc p.D655G NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 655 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) ACGTCTCAGGTCTTGCTCCTG 0.388000 14 31 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99808698 99808698 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr7:99808698C>T ENST00000426455.1 + 30 3710 c.3303C>T c.(3301-3303)agC>agT p.S1101S GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Silent_p.S1043S|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.S1101S Q9UJ98 STAG3_HUMAN stromal antigen 3 1101 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCTGAACAGCATCCCGCCCA 0.577000 33 77 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65145895 65145895 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr4:65145895C>T ENST00000381210.3 - 12 1097 c.987G>A c.(985-987)atG>atA p.M329I TECRL_ENST00000507440.1_Intron NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 329 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TCTGGATACTCATCAGAAGTG 0.274000 6 25 0 0 1 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454293 114454293 + Missense_Mutation SNP G G T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:114454293G>T ENST00000369563.3 + 4 1525 c.1079G>T c.(1078-1080)aGt>aTt p.S360I DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 360 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTGAGGAAAGTGCTGATCAA 0.488000 Other identified genes with known or suspected DNA repair function 34 81 9.04072e-19 1.05843e-18 1 1 0 PAXBP1 94104 broad.mit.edu 37 21 34127589 34127589 + Nonsense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr21:34127589G>A ENST00000331923.4 - 8 1648 c.1459C>T c.(1459-1461)Cga>Tga p.R487* PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.R487* NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TCATCTTGTCGTCTTTGGACA 0.373000 OREG0003541 type=REGULATORY REGION|Gene=C21orf66|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 10 35 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179526210 179526210 + Silent SNP C C A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:179526210C>A ENST00000467460.1 - 13 1698 c.1368G>T c.(1366-1368)ggG>ggT p.G456G PEX5L_ENST00000465751.1_Silent_p.G432G|PEX5L_ENST00000464614.1_Silent_p.G348G|PEX5L_ENST00000392649.3_Silent_p.G348G|PEX5L_ENST00000263962.8_Silent_p.G454G|PEX5L_ENST00000485199.1_Silent_p.G421G|PEX5L_ENST00000476138.1_Silent_p.G413G|PEX5L_ENST00000472994.1_Silent_p.G397G|PEX5L_ENST00000468741.1_Silent_p.G264G|PEX5L_ENST00000467440.2_5'UTR NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 456 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) ATTCCTTCACCCCTTCCAGAA 0.398000 17 110 0.006122 0.00621918 1 1 0 CDC42BPB 9578 broad.mit.edu 37 14 103438345 103438345 + Nonsense_Mutation SNP G G A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:103438345G>A ENST00000361246.2 - 13 2083 c.1795C>T c.(1795-1797)Cga>Tga p.R599* NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 599 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TCCTTGTCTCGCAGCTGCCGG 0.617000 4 143 0 0 1 0 0 HIST1H2BL 8340 broad.mit.edu 37 6 27775416 27775416 + Missense_Mutation SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr6:27775416A>G ENST00000377401.2 - 1 293 c.269T>C c.(268-270)aTc>aCc p.I90T NM_003519.3 NP_003510.1 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 90 nucleosome assembly nucleosome|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 CCTGGAGGTGATGGTCGAGCG 0.627000 48 130 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67109491 67109491 + Missense_Mutation SNP A A G TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr17:67109491A>G ENST00000284425.2 - 15 2087 c.1913T>C c.(1912-1914)tTa>tCa p.L638S NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 638 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TGGTTCATCTAAAAGCAAAAT 0.368000 15 15 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23415099 23415099 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr16:23415099C>T ENST00000307149.5 - 13 1904 c.1719G>A c.(1717-1719)cgG>cgA p.R573R NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 573 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GCTGGTTAAGCCGAGTCAGCG 0.512000 28 35 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193120622 193120622 + Missense_Mutation SNP A A C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr3:193120622A>C ENST00000342695.4 - 30 3732 c.3410T>G c.(3409-3411)aTg>aGg p.M1137R ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.M1118R|ATP13A4_ENST00000400270.2_Missense_Mutation_p.M153R NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1137 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTTAATCATCATCCACAGGGC 0.448000 10 65 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88858450 88858450 + Silent SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:88858450C>T ENST00000303236.3 - 16 3436 c.3135G>A c.(3133-3135)caG>caA p.Q1045Q AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Silent_p.Q894Q NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 1045 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 AAGGATATTTCTGAGTAAATA 0.313000 15 16 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173748 126173748 + Missense_Mutation SNP T T A TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr7:126173748T>A ENST00000339582.2 - 9 2496 c.1688A>T c.(1687-1689)aAc>aTc p.N563I GRM8_ENST00000444921.2_Missense_Mutation_p.N563I|GRM8_ENST00000358373.3_Missense_Mutation_p.N563I|GRM8_ENST00000480995.1_5'UTR O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 563 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GCGGTTCATGTTGGGTCTCTG 0.522000 HNSCC(24;0.065) 32 70 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96792231 96792231 + Missense_Mutation SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:96792231T>C ENST00000359933.4 - 15 3085 c.2192A>G c.(2191-2193)gAt>gGt p.D731G NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 731 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ATGTGAATCATCTAGAAACAC 0.348000 38 34 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112257 59112257 + Missense_Mutation SNP T T C TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr14:59112257T>C ENST00000395153.3 + 4 952 c.805T>C c.(805-807)Tgc>Cgc p.C269R DACT1_ENST00000556859.1_Missense_Mutation_p.C25R|DACT1_ENST00000395151.3_Missense_Mutation_p.C25R|DACT1_ENST00000541264.2_Missense_Mutation_p.C25R|DACT1_ENST00000335867.4_Missense_Mutation_p.C306R NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 306 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CAGTGACATTTGCGGTGGATC 0.522000 45 31 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803276 142803278 + RNA DEL AAC AAC - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr1:142803276_142803278delAAC ENST00000423385.1 - 0 1687_1689 ACCAAACCAAaacaacaacaaca 0.345 3 3 --- --- --- --- LY75-CD302 100526664 broad.mit.edu 37 2 160637475 160637477 + In_Frame_Del DEL TTC TTC - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr2:160637475_160637477delTTC ENST00000504764.1 - 36 5161_5163 c.5134_5136delGAA c.(5134-5136)del p.E1712del CD302_ENST00000259053.4_In_Frame_Del_p.E71del|LY75-CD302_ENST00000505052.1_In_Frame_Del_p.E1656del|LY75_ENST00000554112.1_In_Frame_Del_p.E1712del|CD302_ENST00000429078.2_In_Frame_Del_p.E71del|LY75_ENST00000553424.1_In_Frame_Del_p.E1656del|CD302_ENST00000480212.1_5'UTR NM_001198759.1 NP_001185688.1 O60449 LY75_HUMAN 1580 endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding p.E71Q(1) TAAAAGCATTTTCTTCTTCATTA 0.335 43 26 --- --- --- --- TIAM2 26230 broad.mit.edu 37 6 155572056 155572057 + Frame_Shift_Ins INS - - T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr6:155572056_155572057insT ENST00000461783.3 + 24 5234_5235 c.3961_3962insT c.(3961-3963)ttcfs p.F1321fs TIAM2_ENST00000528391.2_Frame_Shift_Ins_p.F657fs|TIAM2_ENST00000456144.1_Frame_Shift_Ins_p.F1350fs|TIAM2_ENST00000318981.5_Frame_Shift_Ins_p.F1321fs|TIAM2_ENST00000367174.2_Frame_Shift_Ins_p.F697fs|TIAM2_ENST00000456877.2_Frame_Shift_Ins_p.F633fs|TIAM2_ENST00000275246.7_Frame_Shift_Ins_p.F246fs|TIAM2_ENST00000529824.2_Frame_Shift_Ins_p.F1350fs|TIAM2_ENST00000360366.4_Frame_Shift_Ins_p.F1345fs Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1321 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GGTAACAGAACTTTCGATGGGA 0.421 45 66 --- --- --- --- PMS2P3 5387 broad.mit.edu 37 7 75145720 75145721 + RNA DEL AT AT - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr7:75145720_75145721delAT ENST00000418756.1 - 0 618 NR_028059.1 lung(1) 1 TCCTTTGGGGatatatatatat 0.302 2 4 --- --- --- --- KCNQ3 3786 broad.mit.edu 37 8 133150233 133150233 + Frame_Shift_Del DEL T T - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr8:133150233delT ENST00000388996.4 - 12 2019 c.1599delA c.(1597-1599)aafs p.K533fs KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.K413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.K533fs NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 533 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCTCCTTGAATTTTTTTTTAT 0.453 7 185 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 4 7 --- --- --- --- TFCP2 7024 broad.mit.edu 37 12 51566196 51566196 + Frame_Shift_Del DEL C C - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:51566196delC ENST00000307660.4 - 1 730 c.10delG c.(10-12)ctfs p.A4fs TFCP2_ENST00000549867.1_Frame_Shift_Del_p.A4fs|TFCP2_ENST00000548115.1_Frame_Shift_Del_p.A4fs|TFCP2_ENST00000257915.5_Frame_Shift_Del_p.A4fs NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 4 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 AGCTTCAGAGCCCAGGCCATC 0.577 30 61 --- --- --- --- LDHAL6CP 121498 broad.mit.edu 37 12 63398006 63398007 + RNA DEL AA AA - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr12:63398006_63398007delAA ENST00000550738.1 + 0 548_549 TTCATTGGACAAAAGCTTGGTA 0.460 25 39 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 7 1205 --- --- --- --- RAPGEFL1 51195 broad.mit.edu 37 17 38340867 38340867 + Frame_Shift_Del DEL T T - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr17:38340867delT ENST00000436615.3 + 4 642 c.152delT c.(151-153)ctfs p.L51fs RAPGEFL1_ENST00000264644.6_Frame_Shift_Del_p.L51fs|RAPGEFL1_ENST00000544503.1_Frame_Shift_Del_p.L100fs|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000456989.2_Frame_Shift_Del_p.L106fs NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 257 Gly-rich. G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GACGAGTCCCTTTACCAGGGC 0.567 2 4 --- --- --- --- IGLV1-50 28821 broad.mit.edu 37 22 22681921 22681921 + RNA DEL C C - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chr22:22681921delC ENST00000390291.2 + 0 154 GGCCCCAGGGCAGAGGGTCAC 0.597 65 110 --- --- --- --- P2RY8 286530 broad.mit.edu 37 X 1585382 1585382 + Frame_Shift_Del DEL C C - TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04522aa6-0bb7-47fd-af3f-b3e2d8937f76 0584501b-8e3d-422f-94d7-d2529d73640a g.chrX:1585382delC ENST00000381297.4 - 2 280 c.70delG c.(70-72)tgfs p.V24fs P2RY8_ENST00000460672.1_5'UTR NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 24 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCAGGGCCACCGCGATCGCC 0.706 T CRLF2 """B-ALL, Downs associated ALL""" 25 26 --- --- --- ---