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 TTLL7 79739 broad.mit.edu 37 1 84373315 84373315 + Missense_Mutation SNP G G A rs143330409 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:84373315G>A ENST00000260505.8 - 16 2193 c.1816C>T c.(1816-1818)Cgg>Tgg p.R606W TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 606 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity p.R606W(1) kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) GAGATGGACCGAGGGCAGCTG 0.468000 5 34 0 0 0.021553 0 0 ITGA9 3680 broad.mit.edu 37 3 37826549 37826549 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:37826549G>C ENST00000264741.5 + 26 3125 c.2869G>C c.(2869-2871)Ggg>Cgg p.G957R AC093415.2_ENST00000438136.1_RNA NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 957 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity p.G957R(1) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) AATAGCTCATGGGAACCCAGA 0.562000 21 67 0 0 0.014323 0 0 ACVRL1 94 broad.mit.edu 37 12 52307405 52307405 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:52307405G>A ENST00000550683.1 + 3 519 c.418G>A c.(418-420)Gtg>Atg p.V140M ACVRL1_ENST00000388922.4_Missense_Mutation_p.V126M|ACVRL1_ENST00000419526.2_Intron NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 126 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity p.V126M(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCTGGGCCCCGTGCTGGCCTT 0.682000 24 10 0 0 0.027356 0 0 FRMPD1 22844 broad.mit.edu 37 9 37746199 37746199 + Silent SNP C C T rs147765962 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:37746199C>T ENST00000539465.1 + 16 4763 c.4170C>T c.(4168-4170)acC>acT p.T1390T RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.T1390T Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1390 cytoskeleton|cytosol|plasma membrane p.T1390T(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GCTGCACCACCGCACCCCTGT 0.662000 66 71 0 0 0.014410 0 0 C9orf41 138199 broad.mit.edu 37 9 77642970 77642970 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:77642970C>T ENST00000376834.3 - 1 340 c.188G>A c.(187-189)cGt>cAt p.R63H C9orf41_ENST00000376830.3_Missense_Mutation_p.R63H|C9orf41_ENST00000376837.3_Missense_Mutation_p.R63H NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 63 p.R63H(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 GAAGTGCTCACGCTCAAGCCT 0.706000 4 10 0 0 0.009096 0 0 ASB3 51130 broad.mit.edu 37 2 53992709 53992709 + Missense_Mutation SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:53992709T>C ENST00000406625.2 - 2 346 c.106A>G c.(106-108)Atg>Gtg p.M36V GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000263634.3_Start_Codon_SNP_p.M1V|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.M39V ankyrin repeat and SOCS box containing 3 p.M1V(1) endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GTAAAATCCATTTGTTTGACC 0.443000 16 107 0 0 0.004990 0 0 AC015849.16 0 broad.mit.edu 37 17 34235862 34235862 + RNA SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:34235862C>T ENST00000587132.1 - 0 2165 GTTGAGGTCTCCTCCATGGTT 0.463000 6 66 0 0 0.021553 0 0 RNF133 168433 broad.mit.edu 37 7 122338738 122338738 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:122338738C>G ENST00000340112.2 - 1 472 c.235G>C c.(235-237)Gag>Cag p.E79Q CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 79 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding p.E79Q(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 ATTTTTCCCTCTGGTGGCACT 0.448000 38 94 0 0 0.019004 0 0 C2orf78 388960 broad.mit.edu 37 2 74043846 74043846 + Silent SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:74043846G>T ENST00000409561.1 + 3 2617 c.2496G>T c.(2494-2496)gtG>gtT p.V832V NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 832 p.V802V(1)|p.V832V(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CCACTGCTGTGACCAGTCTCC 0.527000 9 69 0.000442599 0.000476909 0.006214 1 0 CREBBP 1387 broad.mit.edu 37 16 3788647 3788647 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:3788647C>T ENST00000262367.5 - 26 5116 c.4307G>A c.(4306-4308)aGt>aAt p.S1436N CREBBP_ENST00000382070.3_Missense_Mutation_p.S1398N NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1436 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.S1436N(2) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GAAATGAATACTATCCAGATA 0.423000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 33 11 0 0 0.010818 0 0 ATP5B 506 broad.mit.edu 37 12 57039660 57039660 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:57039660G>C ENST00000262030.3 - 1 138 c.88C>G c.(88-90)Cag>Gag p.Q30E ATP5B_ENST00000552919.1_Missense_Mutation_p.Q30E NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 30 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism p.Q30E(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGTAAGAGCTGAGCTGGGGGC 0.657000 3 13 0 0 0.004672 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6876136 6876136 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr18:6876136G>C ENST00000419673.2 + 9 959 c.742G>C c.(742-744)Gag>Cag p.E248Q ARHGAP28_ENST00000383472.4_Missense_Mutation_p.E407Q|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.E355Q|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.E407Q|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.E248Q|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.E230Q|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.E243Q|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.E248Q NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 230 signal transduction intracellular p.E407Q(1)|p.E248Q(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) CTAGTTTTTTGAGAAAGTTGA 0.338000 9 96 0 0 0.006214 0 0 ZNF230 7773 broad.mit.edu 37 19 44514476 44514476 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:44514476C>G ENST00000429154.2 + 5 513 c.285C>G c.(283-285)atC>atG p.I95M NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 95 KRNB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I95M(1) NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) GCCAGCAAATCTGGGAACAAA 0.468000 10 62 0 0 0.010729 0 0 COL4A4 1286 broad.mit.edu 37 2 227953429 227953429 + Silent SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:227953429G>T ENST00000396625.3 - 22 1770 c.1563C>A c.(1561-1563)ggC>ggA p.G521G COL4A4_ENST00000329662.7_Silent_p.G521G NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 521 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.G521G(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTCCAAGCCAGCCAGGGAGCC 0.587000 111 71 9.4957e-49 1.15781e-48 0.014410 1 0 KDM3B 51780 broad.mit.edu 37 5 137761206 137761206 + Missense_Mutation SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr5:137761206G>T ENST00000314358.5 + 17 4546 c.4346G>T c.(4345-4347)aGg>aTg p.R1449M KDM3B_ENST00000394866.1_Missense_Mutation_p.R1105M|KDM3B_ENST00000542866.1_Missense_Mutation_p.R481M NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1449 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.R1449M(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GTGAACTGCAGGAACTGTGCT 0.448000 33 111 1.61788e-16 1.84332e-16 0.012213 1 0 CD163 9332 broad.mit.edu 37 12 7656275 7656275 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:7656275G>A ENST00000359156.4 - 1 214 c.12C>T c.(10-12)ctC>ctT p.L4L CD163_ENST00000432237.2_Silent_p.L4L|CD163_ENST00000396620.3_Silent_p.L4L NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 4 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.L4L(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCACCATTCTGAGTTTGCTCA 0.318000 10 68 0 0 0.013537 0 0 NFKBID 84807 broad.mit.edu 37 19 36387690 36387690 + Missense_Mutation SNP A A T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:36387690A>T ENST00000396901.1 - 6 769 c.196T>A c.(196-198)Tat>Aat p.Y66N NFKBID_ENST00000606253.1_Missense_Mutation_p.Y66N|NFKBID_ENST00000352614.2_Missense_Mutation_p.Y218N NM_139239.1 NP_640332.1 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 66 inflammatory response nucleus p.Y66N(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 GCCGCAGCATATGCCGCCCAG 0.632000 20 25 0 0 0.012319 0 0 FTO 79068 broad.mit.edu 37 16 53967950 53967950 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:53967950G>A ENST00000471389.1 + 8 1515 c.1293G>A c.(1291-1293)agG>agA p.R431R FTO_ENST00000460382.1_Silent_p.R32R|FTO_ENST00000394647.3_Silent_p.R135R|FTO_ENST00000463855.1_Silent_p.R53R|FTO_ENST00000431610.2_Silent_p.R32R NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 431 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.R431R(1) endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 TGGAACAAAGGAATGAAATCT 0.428000 4 64 0 0 0.009096 0 0 LSM10 84967 broad.mit.edu 37 1 36859515 36859515 + Silent SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:36859515G>C ENST00000315732.2 - 2 365 c.216C>G c.(214-216)ctC>ctG p.L72L LSM10_ENST00000476041.1_5'UTR NM_032881.1 NP_116270.1 Q969L4 LSM10_HUMAN LSM10, U7 small nuclear RNA associated 72 histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding p.L72L(1) upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) CTGTCACAAAGAGGTCATCCA 0.552000 21 83 0 0 0.010504 0 0 C9orf41 138199 broad.mit.edu 37 9 77642968 77642968 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:77642968C>T ENST00000376834.3 - 1 342 c.190G>A c.(190-192)Gag>Aag p.E64K C9orf41_ENST00000376830.3_Missense_Mutation_p.E64K|C9orf41_ENST00000376837.3_Missense_Mutation_p.E64K NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 64 p.E64K(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 CAGAAGTGCTCACGCTCAAGC 0.706000 4 10 0 0 0.009096 0 0 KDM5B 10765 broad.mit.edu 37 1 202710600 202710600 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:202710600C>T ENST00000367265.3 - 19 4004 c.2840G>A c.(2839-2841)gGg>gAg p.G947E KDM5B_ENST00000367264.2_Missense_Mutation_p.G983E NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 947 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.G947E(1) breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CGGGGCCAGCCCTACCCCTAG 0.547000 35 61 0 0 0.015359 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30873763 30873763 + Missense_Mutation SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:30873763C>A ENST00000251071.5 - 12 2880 c.2130G>T c.(2128-2130)atG>atT p.M710I CAPRIN2_ENST00000308433.5_Missense_Mutation_p.M377I|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.M710I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.M710I NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 710 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 p.M710I(1) 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) TCTCTGAGGTCATAAACTCTG 0.378000 36 118 6.97489e-18 8.07924e-18 0.021022 1 0 STXBP5L 9515 broad.mit.edu 37 3 120973778 120973778 + Missense_Mutation SNP A A T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:120973778A>T ENST00000273666.6 + 16 1749 c.1478A>T c.(1477-1479)aAa>aTa p.K493I STXBP5L_ENST00000471454.1_Missense_Mutation_p.K493I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.K493I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.K493I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.K493I NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 493 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.K493I(1) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AAAACTTCAAAAGTGTTTGAA 0.348000 11 21 0 0 0.013537 0 0 CNTN1 1272 broad.mit.edu 37 12 41421677 41421677 + Missense_Mutation SNP G G A rs143121881 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:41421677G>A ENST00000551295.2 + 22 2846 c.2729G>A c.(2728-2730)aGg>aAg p.R910K CNTN1_ENST00000347616.1_Missense_Mutation_p.R910K|CNTN1_ENST00000348761.2_Missense_Mutation_p.R899K|CNTN1_ENST00000550305.1_3'UTR NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 910 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.R910K(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CAGCCTCCAAGGATCATCAGT 0.393000 49 26 0 0 0.014410 0 0 ZNF211 10520 broad.mit.edu 37 19 58152819 58152819 + Missense_Mutation SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:58152819T>C ENST00000544273.1 + 5 1328 c.1001T>C c.(1000-1002)tTt>tCt p.F334S ZNF211_ENST00000420680.1_Missense_Mutation_p.F326S|ZNF211_ENST00000391703.3_Missense_Mutation_p.F261S|ZNF211_ENST00000299871.5_Missense_Mutation_p.F387S|ZNF211_ENST00000254182.7_Missense_Mutation_p.F313S|ZNF211_ENST00000240731.4_Missense_Mutation_p.F335S|ZNF211_ENST00000541801.1_Missense_Mutation_p.F313S|ZNF211_ENST00000347302.3_Missense_Mutation_p.F322S Q13398 ZN211_HUMAN zinc finger protein 211 322 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F335S(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGGAAATCGTTTAGTCAGATA 0.418000 49 75 0 0 0.014410 0 0 CCDC27 148870 broad.mit.edu 37 1 3672130 3672130 + Splice_Site SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:3672130C>T ENST00000294600.2 + 3 636 c.552C>T c.(550-552)gaC>gaT p.D184D NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 184 p.D184D(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CGAACGTGGACGGTGAGGGAG 0.647000 21 228 0 0 0.012319 0 0 LZTS3 9762 broad.mit.edu 37 20 3147630 3147630 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr20:3147630C>T ENST00000329152.3 - 1 1577 c.180G>A c.(178-180)ggG>ggA p.G60G LZTS3_ENST00000360342.3_Silent_p.G60G|LZTS3_ENST00000337576.5_Silent_p.G60G p.G60G(1) TGCCCCCACCCCCTGTGCGGG 0.716000 11 19 0 0 0.010729 0 0 GCNT1 2650 broad.mit.edu 37 9 79118499 79118499 + Missense_Mutation SNP A A C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:79118499A>C ENST00000442371.1 + 3 2141 c.1202A>C c.(1201-1203)aAg>aCg p.K401T GCNT1_ENST00000376730.4_Missense_Mutation_p.K401T|GCNT1_ENST00000536223.1_Missense_Mutation_p.K401T|GCNT1_ENST00000444201.2_Missense_Mutation_p.K401T NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 401 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity p.K401T(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 TTTGCCAATAAGTTTGACGTG 0.488000 19 142 0 0 0.007413 0 0 SRRM1 10250 broad.mit.edu 37 1 24993386 24993386 + Missense_Mutation SNP G G T rs78787676 byFrequency TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:24993386G>T ENST00000323848.9 + 13 2024 c.1709G>T c.(1708-1710)cGc>cTc p.R570L SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 570 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.R570L(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCTCGACGGCGCAGGACTCCC 0.557000 5 77 0.000673444 0.000720067 0.008291 1 0 TNN 63923 broad.mit.edu 37 1 175067712 175067712 + Silent SNP C C T rs150075962 by1000genomes TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:175067712C>T ENST00000239462.4 + 9 2213 c.2100C>T c.(2098-2100)gcC>gcT p.A700A NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 700 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.A700A(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCAAGAAGGCCGACACCAAGG 0.572000 33 91 0 0 0.015359 0 0 CDH1 999 broad.mit.edu 37 16 68842337 68842337 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:68842337C>T ENST00000261769.5 + 4 589 c.398C>T c.(397-399)tCt>tTt p.S133F CDH1_ENST00000422392.2_Missense_Mutation_p.S133F|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 133 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2)|p.S133F(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GCCTCCGTTTCTGGAATCCAA 0.478000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 51 78 0 0 0.014410 0 0 GP2 2813 broad.mit.edu 37 16 20337750 20337750 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:20337750G>C ENST00000302555.5 - 2 153 c.4C>G c.(4-6)Cct>Gct p.P2A GP2_ENST00000341642.5_Missense_Mutation_p.P2A|GP2_ENST00000381362.4_Missense_Mutation_p.P2A|GP2_ENST00000381360.5_Missense_Mutation_p.P2A P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 2 anchored to membrane|extracellular region|plasma membrane p.P2A(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ATAAGGTGAGGCATGCAGGTC 0.498000 68 30 0 0 0.014410 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 7 20 0.00198382 0.00210497 0.001984 1 0 INPP5F 22876 broad.mit.edu 37 10 121557048 121557048 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr10:121557048A>G ENST00000361976.2 + 8 1110 c.944A>G c.(943-945)cAt>cGt p.H315R INPP5F_ENST00000369083.3_Missense_Mutation_p.H315R NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 315 SAC. phosphoric ester hydrolase activity p.H315R(1) breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CAGTTGATTCATGTTCATAAT 0.423000 12 16 0 0 0.020292 0 0 IGLV5-37 28783 broad.mit.edu 37 22 22782206 22782206 + RNA SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr22:22782206C>A ENST00000390300.2 + 0 209 CCAGGTATCTCCTGTACTACT 0.522000 31 81 1.06801e-11 1.19721e-11 0.009535 1 0 CAMTA1 23261 broad.mit.edu 37 1 7798119 7798119 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:7798119C>G ENST00000303635.7 + 16 3966 c.3759C>G c.(3757-3759)ttC>ttG p.F1253L CAMTA1_ENST00000439411.2_Missense_Mutation_p.F1253L NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1253 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.F1253L(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CTGAGTACTTCCAGACAAGGC 0.488000 T WWTR1 epitheliod hemangioendothelioma 26 103 0 0 0.027356 0 0 SLC2A13 114134 broad.mit.edu 37 12 40499322 40499322 + Missense_Mutation SNP A A C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:40499322A>C ENST00000280871.4 - 1 339 c.289T>G c.(289-291)Tat>Gat p.Y97D SLC2A13_ENST00000380858.1_Missense_Mutation_p.Y97D NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 97 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity p.Y78D(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) CCGGTGTCATAGCCAAACAGG 0.697000 HNSCC(50;0.14) 6 3 0 0 0.004482 0 0 EMILIN3 90187 broad.mit.edu 37 20 39992445 39992445 + Missense_Mutation SNP A A T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr20:39992445A>T ENST00000332312.3 - 3 539 c.347T>A c.(346-348)cTc>cAc p.L116H NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 116 EMI. proteinaceous extracellular matrix p.L116H(1) biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) ACGCCAGGCGAGGTCTGTCAC 0.617000 61 136 0 0 0.014410 0 0 PCNT 5116 broad.mit.edu 37 21 47783573 47783573 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr21:47783573C>G ENST00000359568.5 + 14 2440 c.2333C>G c.(2332-2334)gCt>gGt p.A778G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 778 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.A778G(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGAGAAAAGGCTGAATCCGAG 0.463000 15 149 0 0 0.024245 0 0 PADI4 23569 broad.mit.edu 37 1 17690129 17690129 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:17690129G>A ENST00000375448.4 + 16 1897 c.1871G>A c.(1870-1872)gGc>gAc p.G624D NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 624 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity p.G624D(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GAGCCACTGGGCCTCCAGTGC 0.617000 7 47 0 0 0.003080 0 0 PTCHD2 57540 broad.mit.edu 37 1 11596720 11596720 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:11596720C>T ENST00000294484.6 + 21 4294 c.4156C>T c.(4156-4158)Ctg>Ttg p.L1386L PTCHD2_ENST00000389575.3_Silent_p.L1386L|PTCHD2_ENST00000304391.6_3'UTR NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1386 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity p.L1603L(1) NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TAAGATTCCCCTGCCCGCAGG 0.672000 3 10 0 0 0.004672 0 0 TLK2 11011 broad.mit.edu 37 17 60673977 60673977 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:60673977G>C ENST00000582809.1 + 18 1748 c.1045G>C c.(1045-1047)Gag>Cag p.E349Q TLK2_ENST00000343388.7_Missense_Mutation_p.E466Q|TLK2_ENST00000346027.5_Missense_Mutation_p.E498Q|TLK2_ENST00000326270.9_Missense_Mutation_p.E520Q|TLK2_ENST00000542523.1_Missense_Mutation_p.E466Q Q86UE8 TLK2_HUMAN tousled-like kinase 2 520 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.E498Q(1)|p.E520Q(1)|p.E497Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 GATTCATAAAGAGCTGGATCA 0.373000 40 118 0 0 0.009718 0 0 SLC5A4 6527 broad.mit.edu 37 22 32647856 32647856 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr22:32647856G>A ENST00000266086.4 - 3 224 c.213C>T c.(211-213)ggC>ggT p.G71G RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 71 carbohydrate transport|sodium ion transport integral to membrane symporter activity p.G71G(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AGAGAGAGGCGCCCATCTGGA 0.517000 44 35 0 0 0.014410 0 0 DSC3 1825 broad.mit.edu 37 18 28576944 28576944 + Nonsense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr18:28576944G>C ENST00000434452.1 - 15 2460 c.2306C>G c.(2305-2307)tCa>tGa p.S769* DSC3_ENST00000360428.4_Nonsense_Mutation_p.S769* NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 769 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding p.S769*(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TTTCATTCCTGATCCCATAGT 0.433000 22 64 0 0 0.012319 0 0 INTU 27152 broad.mit.edu 37 4 128632073 128632073 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr4:128632073C>T ENST00000335251.6 + 14 2478 c.2375C>T c.(2374-2376)aCa>aTa p.T792I NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein p.T792I(1) breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TTAAGACTGACATCTGGTCCT 0.333000 48 30 0 0 0.014410 0 0 IGKV3D-11 28876 broad.mit.edu 37 2 90212007 90212007 + RNA SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:90212007G>A ENST00000390277.2 + 0 196 CCCTGTCTTTGTCTCCAGGGG 0.512000 5 57 0 0 0.008291 0 0 AHR 196 broad.mit.edu 37 7 17378759 17378759 + Missense_Mutation SNP G G T rs138430398 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:17378759G>T ENST00000242057.4 + 10 1953 c.1310G>T c.(1309-1311)gGa>gTa p.G437V AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 437 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.G437V(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) GGCACTAGTGGAAAAGACTCT 0.438000 35 65 3.03874e-20 3.54945e-20 0.015359 1 0 FBXW7 55294 broad.mit.edu 37 4 153253770 153253770 + Nonsense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr4:153253770C>T ENST00000281708.4 - 6 2192 c.963G>A c.(961-963)tgG>tgA p.W321* FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W145*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W241*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W321*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W203*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W321* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 321 F-box. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.W321*(2)|p.W82*(1)|p.W241*(1)|p.?(1)|p.W203*(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATTTCTCTCTCCAGAGAAGGT 0.393000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 32 19 0 0 0.013726 0 0 CCL25 6370 broad.mit.edu 37 19 8122718 8122718 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:8122718G>C ENST00000253451.4 + 5 462 c.356G>C c.(355-357)gGa>gCa p.G119A CCL25_ENST00000315626.4_Missense_Mutation_p.W75C|CCL25_ENST00000390669.3_Missense_Mutation_p.G120A NM_001201359.1|NM_005624.3 NP_001188288.1|NP_005615.2 O15444 CCL25_HUMAN chemokine (C-C motif) ligand 25 120 chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|hormone activity p.G120A(1) NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1) 5 ttgagttctggaaactccaag 0.468000 17 68 0 0 0.009535 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 5 147 0 0 0.014758 0 0 RELN 5649 broad.mit.edu 37 7 103243875 103243875 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:103243875A>G ENST00000424685.2 - 24 3368 c.3209T>C c.(3208-3210)aTg>aCg p.M1070T RELN_ENST00000428762.1_Missense_Mutation_p.M1070T|RELN_ENST00000343529.5_Missense_Mutation_p.M1070T P78509 RELN_HUMAN reelin 1070 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.M1070T(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAAATCTGACATAATTGTGGA 0.507000 31 93 0 0 0.009535 0 0 CD93 22918 broad.mit.edu 37 20 23066316 23066316 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr20:23066316C>T ENST00000246006.4 - 1 661 c.514G>A c.(514-516)Gga>Aga p.G172R NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 172 C-type lectin. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding p.G172R(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) ATGTTACTTCCGGGGGAGCCT 0.652000 12 111 0 0 0.016723 0 0 ATP10A 57194 broad.mit.edu 37 15 25925012 25925012 + Missense_Mutation SNP C C A rs141308074 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr15:25925012C>A ENST00000356865.6 - 21 4087 c.3976G>T c.(3976-3978)Gct>Tct p.A1326S NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1326 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.A1326S(1) NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CGTCCCTGAGCAAAGGTCTCT 0.597000 50 50 1.02067e-35 1.22304e-35 0.014410 1 0 GPR128 84873 broad.mit.edu 37 3 100364943 100364943 + Silent SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:100364943T>C ENST00000273352.3 + 9 1369 c.1101T>C c.(1099-1101)ttT>ttC p.F367F GPR128_ENST00000475887.1_Silent_p.F72F NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 367 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.F367F(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 ACATGGTCTTTAGTCCAAAGG 0.378000 29 51 0 0 0.012213 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88272367 88272367 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:88272367G>A ENST00000357081.3 - 10 1036 c.892C>T c.(892-894)Ctg>Ttg p.L298L AGTPBP1_ENST00000432218.1_Silent_p.L136L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.L350L|AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000376083.3_Silent_p.L298L|AGTPBP1_ENST00000491784.1_5'UTR Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 298 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.L298L(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GTATTATACAGAATTTTCATC 0.289000 7 52 0 0 0.003080 0 0 PDE1C 5137 broad.mit.edu 37 7 31912954 31912954 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:31912954A>G ENST00000396184.3 - 7 764 c.560T>C c.(559-561)tTt>tCt p.F187S PDE1C_ENST00000396191.1_Missense_Mutation_p.F187S|PDE1C_ENST00000321453.7_Missense_Mutation_p.F187S|PDE1C_ENST00000396182.2_Missense_Mutation_p.F187S|PDE1C_ENST00000396193.1_Missense_Mutation_p.F247S NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 187 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.F187S(2)|p.F247S(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ATAGAAAATAAATTTCAGTGC 0.398000 25 32 0 0 0.007291 0 0 ZNF639 51193 broad.mit.edu 37 3 179050893 179050893 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:179050893C>T ENST00000326361.3 + 6 731 c.286C>T c.(286-288)Cac>Tac p.H96Y ZNF639_ENST00000484866.1_Missense_Mutation_p.H96Y|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.H96Y NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 96 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.H96Y(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) aattctagaccacactgcctT 0.363000 7 13 0 0 0.001984 0 0 FMO3 2328 broad.mit.edu 37 1 171086316 171086316 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:171086316C>T ENST00000367755.4 + 9 1444 c.1333C>T c.(1333-1335)Ccc>Tcc p.P445S FMO3_ENST00000542847.1_Missense_Mutation_p.P425S|FMO3_ENST00000392085.2_Missense_Mutation_p.P445S|FMO3_ENST00000538429.1_Missense_Mutation_p.P382S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 445 KP -> T (in Ref. 1; AAA86284). xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.P445S(1) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGGGCAAAGCCCAACATCCC 0.483000 39 51 0 0 0.025465 0 0 SLC4A4 8671 broad.mit.edu 37 4 72399971 72399971 + Missense_Mutation SNP G G A rs150967020 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr4:72399971G>A ENST00000340595.3 + 15 2372 c.2176G>A c.(2176-2178)Gtt>Att p.V726I SLC4A4_ENST00000351898.6_Missense_Mutation_p.V770I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.V770I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.V770I NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 770 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity p.V770I(2)|p.V726I(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGGTTGGTTCGTTCCACCGTT 0.423000 19 32 0 0 0.008871 0 0 ABCC9 10060 broad.mit.edu 37 12 21997778 21997778 + Silent SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:21997778A>G ENST00000261200.4 - 25 3167 c.3168T>C c.(3166-3168)acT>acC p.T1056T RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.T1020T|ABCC9_ENST00000261201.4_Silent_p.T1056T NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1056 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.T1056T(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCCATTCTACAGTGAGGGATG 0.418000 53 69 0 0 0.014410 0 0 USP47 55031 broad.mit.edu 37 11 11913616 11913616 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:11913616C>T ENST00000339865.5 + 3 1018 c.255C>T c.(253-255)agC>agT p.S85S USP47_ENST00000527733.1_Silent_p.S153S|USP47_ENST00000399455.2_Silent_p.S173S|USP47_ENST00000539466.1_5'UTR NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 173 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) TCAGCCAAAGCTACTCCTACT 0.393000 26 171 0 0 0.024334 0 0 OR10C1 442194 broad.mit.edu 37 6 29408490 29408490 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr6:29408490G>A ENST00000444197.2 + 1 1408 c.698G>A c.(697-699)cGc>cAc p.R233H OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R233H(1) NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GTTGCGGGCCGCCGCAAGGCC 0.587000 32 313 0 0 0.017118 0 0 MMP9 4318 broad.mit.edu 37 20 44640354 44640354 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr20:44640354G>A ENST00000372330.3 + 6 984 c.965G>A c.(964-966)cGg>cAg p.R322Q NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 322 Fibronectin type-II 2. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding p.R322Q(1) breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) AACTACGACCGGGACAAGCTC 0.627000 OREG0025989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 28 0 0 0.006214 0 0 ANGEL1 23357 broad.mit.edu 37 14 77275517 77275517 + Silent SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr14:77275517T>C ENST00000251089.2 - 2 646 c.534A>G c.(532-534)ccA>ccG p.P178P NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 178 p.P178P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CCAACACCGCTGGGTCCTCTT 0.652000 15 37 0 0 0.004990 0 0 OR5D18 219438 broad.mit.edu 37 11 55587220 55587220 + Missense_Mutation SNP A A T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:55587220A>T ENST00000333976.4 + 1 135 c.115A>T c.(115-117)Act>Tct p.T39S NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T39S(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CTACAATGTCACTGTGCTAGG 0.453000 102 101 0 0 0.014410 0 0 LMO7 4008 broad.mit.edu 37 13 76427232 76427232 + Nonsense_Mutation SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr13:76427232G>T ENST00000357063.3 + 29 5785 c.4525G>T c.(4525-4527)Gaa>Taa p.E1509* LMO7_ENST00000377534.3_Nonsense_Mutation_p.E1509*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E1175*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.E1224*|LMO7_ENST00000321797.8_Nonsense_Mutation_p.E1224*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.E1101* Q8WWI1 LMO7_HUMAN LIM domain 7 1509 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding p.E1509*(1)|p.E1175*(1)|p.E1224*(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TTTCAGAGGCGAATCTTTAGA 0.378000 27 81 1.55811e-20 1.8354e-20 0.008361 1 0 ADCY8 114 broad.mit.edu 37 8 131861957 131861957 + Missense_Mutation SNP G G C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr8:131861957G>C ENST00000286355.5 - 10 4395 c.2303C>G c.(2302-2304)cCc>cGc p.P768R ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 768 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.P768R(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GAGGATGAGGGGCAAACATTT 0.473000 HNSCC(32;0.087) 15 41 0 0 0.020292 0 0 OR2T1 26696 broad.mit.edu 37 1 248570286 248570286 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:248570286C>T ENST00000366474.1 + 1 991 c.991C>T c.(991-993)Ctc>Ttc p.L331F NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 331 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L331F(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTACACCATTCTCACACCCAT 0.527000 60 210 0 0 0.014410 0 0 TMEM123 114908 broad.mit.edu 37 11 102272686 102272686 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:102272686G>A ENST00000398136.2 - 3 829 c.409C>T c.(409-411)Cac>Tac p.H137Y TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.H118Y|TMEM123_ENST00000532161.1_Missense_Mutation_p.H49Y NM_052932.2 NP_443164.2 Q8N131 PORIM_HUMAN transmembrane protein 123 137 Thr-rich. oncosis external side of plasma membrane|integral to membrane receptor activity p.H137Y(1) breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) GAACTATTGTGGGTTACGGTC 0.373000 4137 214 0 0 0.014410 0 0 ZNF714 148206 broad.mit.edu 37 19 21300901 21300901 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:21300901G>A ENST00000596143.1 + 5 1756 c.1431G>A c.(1429-1431)gaG>gaA p.E477E ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron NM_182515.3 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E477E(1)|p.E582E(1) endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 ATACTGGAGAGAAATCTTACA 0.388000 14 42 0 0 0.020292 0 0 CCP110 9738 broad.mit.edu 37 16 19547561 19547561 + Silent SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:19547561C>G ENST00000396212.2 + 5 1006 c.570C>G c.(568-570)acC>acG p.T190T CCP110_ENST00000381396.5_Silent_p.T190T|CCP110_ENST00000396208.2_Silent_p.T190T NM_014711.4 NP_055526 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 190 CEP97 binding. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding p.T190T(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 TTCCAAAGACCTCTTCAGCAA 0.393000 126 66 0 0 0.014410 0 0 FAM98C 147965 broad.mit.edu 37 19 38893808 38893808 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:38893808G>A ENST00000252530.5 + 1 34 c.15G>A c.(13-15)aaG>aaA p.K5K FAM98C_ENST00000588262.1_Silent_p.K5K|FAM98C_ENST00000343358.7_Silent_p.K5K NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 5 p.K5K(1) endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGCGGTGAAGGCGGAAGCGT 0.726000 4 22 0 0 0.021553 0 0 NBPF1 55672 broad.mit.edu 37 1 16914278 16914278 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:16914278C>G ENST00000430580.2 - 10 1395 c.508G>C c.(508-510)Gag>Cag p.E170Q NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 170 NBPF 1. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTCATCCTCATCTTCGTCA 0.428000 14 586 0 0 0.008871 0 0 CDK20 23552 broad.mit.edu 37 9 90584799 90584799 + Missense_Mutation SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr9:90584799C>A ENST00000375883.3 - 5 842 c.536G>T c.(535-537)gGg>gTg p.G179V CDK20_ENST00000336654.5_Missense_Mutation_p.G192V|CDK20_ENST00000605159.1_Missense_Mutation_p.G179V|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000325303.8_Missense_Mutation_p.G200V NM_001170639.1|NM_012119.4|NM_178432.3 NP_001164110.1|NP_036251.2|NP_848519.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 200 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity p.G192V(1)|p.G200V(1) skin(1) 1 AAGGGGGGACCCATTCAACAG 0.577000 60 103 4.88506e-25 5.80361e-25 0.014410 1 0 ARHGAP39 80728 broad.mit.edu 37 8 145770746 145770746 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr8:145770746C>T ENST00000276826.5 - 5 2609 c.2408G>A c.(2407-2409)cGc>cAc p.R803H ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R803H|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R803H Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 803 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity p.R803H(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CTCCCAGCCGCGGGCCAGGCT 0.662000 10 99 0 0 0.008291 0 0 POTEH 23784 broad.mit.edu 37 22 16279260 16279260 + Silent SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr22:16279260T>C ENST00000343518.6 - 4 1014 c.963A>G c.(961-963)aaA>aaG p.K321K NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 321 p.K321K(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CCACTTGCTGTTTTTGCTCAT 0.323000 32 446 0 0 0.015359 0 0 ST20 400410 broad.mit.edu 37 15 80191455 80191455 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr15:80191455C>T ENST00000478497.1 - 3 737 c.58G>A c.(58-60)Gta>Ata p.V20I ST20-MTHFS_ENST00000494999.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000485386.1_Missense_Mutation_p.V20I|ST20_ENST00000562759.1_Missense_Mutation_p.V20I NM_001100879.1 NP_001094349.1 suppressor of tumorigenicity 20 p.V20I(1) kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 AGCTTCTTTACAAAGCCATTT 0.318000 18 44 0 0 0.008871 0 0 GUSBP1 728411 broad.mit.edu 37 5 21459679 21459679 + RNA SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr5:21459679C>T ENST00000607545.1 + 0 15 NR_027026.1 ATGGAGCGCTCTGGGCCCAGC 0.632000 OREG0016459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 111 0 0 0.001984 0 0 FBXO22 26263 broad.mit.edu 37 15 76225291 76225291 + Missense_Mutation SNP T T G rs150074021 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr15:76225291T>G ENST00000308275.3 + 7 1165 c.1060T>G c.(1060-1062)Tta>Gta p.L354V FBXO22_ENST00000540507.1_Missense_Mutation_p.L250V NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 354 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity p.L354V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TAGTGTTCCCTTATTCGGCTT 0.408000 49 87 0 0 0.014410 0 0 PLXNB1 5364 broad.mit.edu 37 3 48453976 48453976 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:48453976G>A ENST00000358536.4 - 26 5177 c.4908C>T c.(4906-4908)taC>taT p.Y1636Y PLXNB1_ENST00000358459.4_Silent_p.Y1453Y|PLXNB1_ENST00000448774.2_Silent_p.Y247Y|PLXNB1_ENST00000456774.1_Silent_p.Y1453Y|PLXNB1_ENST00000296440.6_Silent_p.Y1636Y NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1636 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding p.Y1636Y(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAGATGCCACGTAGGCACGGT 0.572000 18 58 0 0 0.004990 0 0 DCC 1630 broad.mit.edu 37 18 51013172 51013172 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr18:51013172G>A ENST00000442544.2 + 26 4358 c.3742G>A c.(3742-3744)Gtg>Atg p.V1248M DCC_ENST00000581580.1_Missense_Mutation_p.V883M|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1248 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.V1248M(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGCAGCTGTCGTGAGCGCCAT 0.488000 67 94 0 0 0.014410 0 0 SEMA3A 10371 broad.mit.edu 37 7 83675657 83675657 + Missense_Mutation SNP T T A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:83675657T>A ENST00000265362.4 - 6 964 c.650A>T c.(649-651)gAt>gTt p.D217V SEMA3A_ENST00000436949.1_Missense_Mutation_p.D217V NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A Sema. axon guidance extracellular region|membrane receptor activity p.D217V(1) breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 CCACCTGGAATCATGCTGCTC 0.428000 17 139 0 0 0.008871 0 0 FBLN2 2199 broad.mit.edu 37 3 13669333 13669333 + Splice_Site SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:13669333C>T ENST00000404922.3 + 11 2552 c.2433C>T c.(2431-2433)gaC>gaT p.D811D FBLN2_ENST00000535798.1_Splice_Site_p.D790D|FBLN2_ENST00000492059.1_Splice_Site_p.D811D|FBLN2_ENST00000295760.7_Splice_Site_p.D764D NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 810 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.D230D(1)|p.D811D(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCGCTGCAGACGTGGATGAGT 0.652000 12 24 0 0 0.016723 0 0 SON 6651 broad.mit.edu 37 21 34926719 34926719 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr21:34926719A>G ENST00000356577.4 + 3 5657 c.5182A>G c.(5182-5184)Att>Gtt p.I1728V SON_ENST00000381679.4_Missense_Mutation_p.I1728V|SON_ENST00000300278.4_Missense_Mutation_p.I1728V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.I1728V NM_138927.1 NP_620305 P18583 SON_HUMAN SON DNA binding protein 1728 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding p.I1728V(2) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TATTGAGGATATTAATGAAGC 0.433000 78 150 0 0 0.014410 0 0 CLUAP1 23059 broad.mit.edu 37 16 3556338 3556338 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:3556338C>G ENST00000571025.1 + 3 192 c.142C>G c.(142-144)Ccc>Gcc p.P48A CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000341633.5_Missense_Mutation_p.P48A|CLUAP1_ENST00000576634.1_Missense_Mutation_p.P48A|LA16c-306E5.3_ENST00000574423.2_RNA Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 48 nucleus protein binding p.P48A(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2) 16 TAGATATGAGCCCCAGACTGA 0.483000 80 48 0 0 0.014410 0 0 ANK1 286 broad.mit.edu 37 8 41615618 41615618 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr8:41615618G>A ENST00000396942.1 - 2 148 c.65C>T c.(64-66)tCa>tTa p.S22L ANK1_ENST00000352337.4_Missense_Mutation_p.S22L|ANK1_ENST00000289734.7_Missense_Mutation_p.S22L|ANK1_ENST00000265709.8_Missense_Mutation_p.S55L|ANK1_ENST00000396945.1_Missense_Mutation_p.S22L|ANK1_ENST00000347528.4_Missense_Mutation_p.S22L|ANK1_ENST00000379758.2_Missense_Mutation_p.S22L P16157 ANK1_HUMAN ankyrin 1, erythrocytic 22 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.S22L(1)|p.S55L(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CAAGTTACCTGATCTTGCTGC 0.507000 63 297 0 0 0.014410 0 0 HYDIN 54768 broad.mit.edu 37 16 70917863 70917863 + Silent SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr16:70917863G>A ENST00000393567.2 - 59 10089 c.9939C>T c.(9937-9939)gcC>gcT p.A3313A NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3313 p.A3312A(1)|p.A3264A(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AAAGAATGCCGGCAGGGTGGA 0.522000 13 59 0 0 0.016723 0 0 MAP1B 4131 broad.mit.edu 37 5 71494957 71494957 + Silent SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr5:71494957C>G ENST00000296755.7 + 5 6073 c.5775C>G c.(5773-5775)acC>acG p.T1925T NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1925 microtubule|microtubule associated complex structural molecule activity p.T1925T(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CCTATGAGACCATTGGGAAAA 0.463000 8 71 0 0 0.003080 0 0 MAP2K1 5604 broad.mit.edu 37 15 66777338 66777338 + Missense_Mutation SNP T T A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr15:66777338T>A ENST00000307102.5 + 7 1235 c.704T>A c.(703-705)cTc>cAc p.L235H MAP2K1_ENST00000566326.1_Missense_Mutation_p.L59H NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 235 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L235H(2) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 CCAGAAAGACTCCAGGGGACT 0.517000 86 143 0 0 0.014410 0 0 BCOR 54880 broad.mit.edu 37 X 39933138 39933138 + Silent SNP T T C TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chrX:39933138T>C ENST00000342274.4 - 4 1823 c.1461A>G c.(1459-1461)ctA>ctG p.L487L BCOR_ENST00000397354.3_Silent_p.L487L|BCOR_ENST00000378444.4_Silent_p.L487L|BCOR_ENST00000378455.4_Silent_p.L487L NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 487 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.L487L(1) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CTGGAGGAGATAGTGTTTCTT 0.512000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 44 18 0 0 0.009718 0 0 SRRM1 10250 broad.mit.edu 37 1 24993374 24993374 + Missense_Mutation SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:24993374C>A ENST00000323848.9 + 13 2012 c.1697C>A c.(1696-1698)cCt>cAt p.P566H SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 566 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.P566H(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCCGCCCCTCCTCCTCGACGG 0.542000 5 75 1.76689e-08 1.94919e-08 0.006214 1 0 DCC 1630 broad.mit.edu 37 18 50450132 50450132 + Silent SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr18:50450132C>A ENST00000442544.2 + 4 1369 c.753C>A c.(751-753)gcC>gcA p.A251A DCC_ENST00000412726.1_Silent_p.A99A NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 251 Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.A251A(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ATGTAGTAGCCATTGAAGGAA 0.418000 35 53 1.08052e-11 1.20154e-11 0.019004 1 0 GPR111 222611 broad.mit.edu 37 6 47649716 47649716 + Missense_Mutation SNP A A T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr6:47649716A>T ENST00000398742.2 + 5 1266 c.1217A>T c.(1216-1218)cAa>cTa p.Q406L GPR111_ENST00000296862.1_Missense_Mutation_p.Q474L|GPR111_ENST00000507065.1_Missense_Mutation_p.Q406L Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 474 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.Q406L(1)|p.Q474L(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GTCTGGAGCCAAGTGACAAAG 0.448000 68 63 0 0 0.014410 0 0 TMEM47 83604 broad.mit.edu 37 X 34657461 34657461 + Silent SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chrX:34657461G>T ENST00000275954.3 - 2 528 c.270C>A c.(268-270)gcC>gcA p.A90A NM_031442.3 NP_113630.1 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 90 integral to membrane p.A90A(2) breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 TGAGAATGATGGCAGCGCCGC 0.448000 8 7 3.09899e-07 3.3653e-07 0.004482 1 0 ABCD1 215 broad.mit.edu 37 X 152994806 152994806 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chrX:152994806C>T ENST00000218104.3 + 2 1419 c.1020C>T c.(1018-1020)agC>agT p.S340S ABCD1_ENST00000370129.4_Silent_p.S155S NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 340 ABC transmembrane type-1. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity p.S340S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATGTGTGGAGCGCCTCGGGCC 0.597000 14 110 0 0 0.028581 0 0 KRT32 3882 broad.mit.edu 37 17 39623211 39623211 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:39623211C>T ENST00000225899.3 - 1 470 c.367G>A c.(367-369)Gag>Aag p.E123K NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 123 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity p.E123K(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CTCTCCAGCTCCGCATTCTCC 0.572000 49 148 0 0 0.013114 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789447 6789447 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:6789447C>T ENST00000338569.2 - 1 839 c.742G>A c.(742-744)Gtc>Atc p.V248I NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V248I(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AACATCCCGACCACAATCAGG 0.483000 23 17 0 0 0.012319 0 0 MFSD12 126321 broad.mit.edu 37 19 3550991 3550991 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr19:3550991G>A ENST00000355415.2 - 2 669 c.500C>T c.(499-501)aCg>aTg p.T167M AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Missense_Mutation_p.T167M|MFSD12_ENST00000389395.3_Missense_Mutation_p.T167M NM_174983.3 NP_778148.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 167 transmembrane transport integral to membrane p.T167M(2) cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 CCTGAGTGCCGTGAGCTCCAC 0.627000 23 15 0 0 0.014323 0 0 ACPP 55 broad.mit.edu 37 3 132050577 132050577 + Splice_Site SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:132050577G>A ENST00000336375.5 + 3 393 c.303G>A c.(301-303)caG>caA p.Q101Q ACPP_ENST00000475741.1_Splice_Site_p.Q101Q|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Splice_Site_p.Q101Q NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 101 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity p.Q101Q(2) NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 AACATGAACAGGCAAGTTGGG 0.348000 8 21 0 0 0.004482 0 0 USP38 84640 broad.mit.edu 37 4 144134859 144134859 + Missense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr4:144134859G>A ENST00000307017.4 + 9 2236 c.1730G>A c.(1729-1731)cGt>cAt p.R577H USP38_ENST00000510377.1_Missense_Mutation_p.R577H NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 577 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R577H(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) GAGACCCCTCGTACAAGTGAC 0.413000 7 43 0 0 0.003080 0 0 HCN1 348980 broad.mit.edu 37 5 45303773 45303773 + Nonsense_Mutation SNP G G A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr5:45303773G>A ENST00000303230.4 - 6 1603 c.1546C>T c.(1546-1548)Caa>Taa p.Q516* NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 516 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.Q516*(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ACACCGTGTTGAATGAAATAC 0.388000 10 116 0 0 0.006214 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99117480 99117480 + Missense_Mutation SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:99117480C>T ENST00000394170.2 + 4 835 c.584C>T c.(583-585)cCc>cTc p.P195L ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P195L|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P195L NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 195 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P195L(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CCTTCCCTTCCCCTGAAGGAC 0.532000 28 91 0 0 0.012213 0 0 FBXO24 26261 broad.mit.edu 37 7 100189393 100189393 + Silent SNP C C T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr7:100189393C>T ENST00000241071.6 + 4 748 c.426C>T c.(424-426)acC>acT p.T142T FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Silent_p.T180T|FBXO24_ENST00000360609.2_Silent_p.T128T|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.T128T|FBXO24_ENST00000468962.1_Silent_p.T130T NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 142 ubiquitin ligase complex ubiquitin-protein ligase activity p.T180T(1)|p.T142T(1) NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TCTTGCCCACCAAGGATCACG 0.607000 41 66 0 0 0.014410 0 0 BMP4 652 broad.mit.edu 37 14 54418914 54418914 + Missense_Mutation SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr14:54418914C>A ENST00000245451.4 - 3 420 c.27G>T c.(25-27)atG>atT p.M9I BMP4_ENST00000417573.1_Missense_Mutation_p.M9I|BMP4_ENST00000559087.1_Missense_Mutation_p.M9I|BMP4_ENST00000558984.1_Missense_Mutation_p.M9I NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 9 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity p.M9I(1) breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 ATAAAACGACCATCAGCATTC 0.493000 42 65 2.45108e-15 2.76992e-15 0.008740 1 0 COL7A1 1294 broad.mit.edu 37 3 48605196 48605196 + Splice_Site SNP C C A TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:48605196C>A ENST00000328333.8 - 107 8037 c.7930G>T c.(7930-7932)Gga>Tga p.G2644* COL7A1_ENST00000454817.1_Splice_Site_p.G2612* NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2644 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.G2644*(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCAGCTTCTCCCTGCAGGCAT 0.672000 54 139 5.99346e-17 6.88504e-17 0.014410 1 0 TTN 7273 broad.mit.edu 37 2 179597433 179597433 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:179597433A>G ENST00000589042.1 - 56 16579 c.16355T>C c.(16354-16356)tTt>tCt p.F5452S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F4208S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.F5135S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5135 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.F4208S(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTAGTTACAAAACTGGGTGG 0.403000 11 13 0 0 0.008291 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 5 82 0 0 0.021553 0 0 LRIG1 26018 broad.mit.edu 37 3 66430809 66430809 + Missense_Mutation SNP A A G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:66430809A>G ENST00000383703.3 - 20 3694 c.3091T>C c.(3091-3093)Tac>Cac p.Y1031H LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.Y1054H|SLC25A26_ENST00000536651.1_3'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 1054 P -> R (in dbSNP:rs332374). integral to membrane p.Y1054H(1) NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) ACAAGCAAGTACTGGGCTTCC 0.567000 38 131 0 0 0.025465 0 0 RB1 5925 broad.mit.edu 37 13 48947629 48947629 + Splice_Site SNP G G T TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr13:48947629G>T ENST00000267163.4 + 12 1353 c.e12+1 NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(23)|p.0?(15) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTATTTTAACGTAAGCCATAT 0.279000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 66 54 1.17004e-41 1.41423e-41 0.014410 1 0 LHX9 56956 broad.mit.edu 37 1 197881675 197881675 + Frame_Shift_Del DEL C C - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:197881675delC ENST00000367390.3 + 1 41 c.14delC c.(13-15)accfs p.T6fs LHX9_ENST00000367391.1_Frame_Shift_Del_p.T6fs|LHX9_ENST00000606127.1_3'UTR NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 0 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 CTGAACGGTACCACTCTAGAG 0.567 91 139 --- --- --- --- OR13G1 441933 broad.mit.edu 37 1 247835572 247835572 + Frame_Shift_Del DEL G G - rs117404602 by1000genomes TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr1:247835572delG ENST00000359688.2 - 1 793 c.772delC c.(772-774)cgcfs p.R258fs RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GAAGCAGGGCGGATATAGGTG 0.463 62 70 --- --- --- --- FAM126B 285172 broad.mit.edu 37 2 201846351 201846351 + Frame_Shift_Del DEL G G - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr2:201846351delG ENST00000418596.3 - 12 1422 c.1235delC c.(1234-1236)ccafs p.P412fs AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 AAGATCAGTTGGTTGCTGTAC 0.478 9 67 --- --- --- --- EHHADH 1962 broad.mit.edu 37 3 184971824 184971833 + Translation_Start_Site DEL CCGAGGGCAC CCGAGGGCAC - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr3:184971824_184971833delCCGAGGGCAC ENST00000231887.3 - 0 53_62 EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TCCTCTATCACCGAGGGCACCTCTGCCTCT 0.681 7 33 --- --- --- --- FAM21A 387680 broad.mit.edu 37 10 51855357 51855359 + Splice_Site DEL AGG AGG - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr10:51855357_51855359delAGG ENST00000351071.6 + 15 1358_1359 c.1240_1241delAGG c.(1240-1242)agg>g p.R414del FAM21A_ENST00000399339.2_Splice_Site_p.R326del|FAM21A_ENST00000314664.7_Splice_Site_p.R414del|FAM21A_ENST00000282633.5_Splice_Site_p.R414del Q641Q2 FA21A_HUMAN family with sequence similarity 21, member A 414 retrograde transport, endosome to Golgi early endosome membrane|WASH complex breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 15 TTCCACCCACAGGAGACACGGAT 0.512 17 38 --- --- --- --- OR52K1 390036 broad.mit.edu 37 11 4510227 4510227 + Frame_Shift_Del DEL T T - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:4510227delT ENST00000307632.3 + 1 119 c.97delT c.(97-99)ttcfs p.F33fs NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CTCCATCCCCTTCTGCTTTGC 0.498 99 63 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 15 221 --- --- --- --- USP5 8078 broad.mit.edu 37 12 6973255 6973287 + In_Frame_Del DEL GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:6973255_6973287delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT ENST00000229268.8 + 17 2192_2224 c.2140_2172delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT c.(2140-2172)ggctccacaagcgcagcagccgacccccctcctdel p.GSTSAAADPPP714del USP5_ENST00000389231.5_In_Frame_Del_p.GSTSAAADPPP691del NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 714 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding p.D698N(1) breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 TAGTGGGCCGGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTGAGGACTGTG 0.635 7 188 --- --- --- --- AVPR1A 552 broad.mit.edu 37 12 63543915 63543926 + In_Frame_Del DEL GGTACCCAAGAT GGTACCCAAGAT - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:63543915_63543926delGGTACCCAAGAT ENST00000299178.2 - 1 796_807 c.691_702delATCTTGGGTACC c.(691-702)atcttgggtaccdel p.ILGT231del NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 231 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) AGCCGTAGCAGGTACCCAAGATGACCACGGGC 0.632 36 74 --- --- --- --- VPS33A 65082 broad.mit.edu 37 12 122745915 122745919 + Frame_Shift_Del DEL TCAAC TCAAC - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr12:122745915_122745919delTCAAC ENST00000267199.4 - 4 484_488 c.372_376delGTTGA c.(370-378)cggttgaagfs p.LK125fs VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Frame_Shift_Del_p.LK125fs|RP11-512M8.5_ENST00000535844.1_Frame_Shift_Del_p.LK125fs NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 125 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CCCAGATCCTTCAACCGCTGTTCGC 0.478 55 131 --- --- --- --- NEK3 4752 broad.mit.edu 37 13 52707832 52707832 + Frame_Shift_Del DEL C C - rs34488913 by1000genomes TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr13:52707832delC ENST00000452082.2 - 13 2671 c.1441delG c.(1441-1443)gagfs p.E481fs NEK3_ENST00000339406.3_Frame_Shift_Del_p.E477fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.E477fs|NEK3_ENST00000400357.2_Frame_Shift_Del_p.E460fs P51956 NEK3_HUMAN NIMA-related kinase 3 477 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) TACGTGTCCTCCTCATCTAGC 0.488 2 4 --- --- --- --- SMTNL2 342527 broad.mit.edu 37 17 4510756 4510756 + Frame_Shift_Del DEL T T - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:4510756delT ENST00000389313.4 + 8 1427 c.1360delT c.(1360-1362)tacfs p.Y454fs SMTNL2_ENST00000338859.4_Frame_Shift_Del_p.Y310fs NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 454 CH. breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) CCAGTCGCTGTACAACCACCT 0.612 117 91 --- --- --- --- HCRT 3060 broad.mit.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:40336501_40336503delGCA ENST00000293330.1 - 2 151_153 c.65_67delTGC c.(64-69)ctgccg>ccg p.L22del NM_001524.1 NP_001515.1 O43612 OREX_HUMAN hypocretin (orexin) neuropeptide precursor 22 neuropeptide signaling pathway cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle p.L22delL(1) breast(1)|central_nervous_system(1) 2 all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069) BRCA - Breast invasive adenocarcinoma(366;0.124) AGCGCGGgcggcagcagcagcag 0.704 4 8 --- --- --- --- RECQL5 9400 broad.mit.edu 37 17 73626918 73626919 + Splice_Site INS - - TG rs142406301 by1000genomes TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr17:73626918_73626919insTG ENST00000317905.5 - 12 1745 c.e12-1 RECQL5_ENST00000423245.2_Splice_Site|RECQL5_ENST00000443199.2_Splice_Site NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding p.?(1) breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGTTCTCATCTGTGGGGGGGG 0.644 Other identified genes with known or suspected DNA repair function 5 10 --- --- --- --- CSNK1E 1454 broad.mit.edu 37 22 38696882 38696883 + Frame_Shift_Del DEL GC GC - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chr22:38696882_38696883delGC ENST00000396832.1 - 5 671_672 c.411_412delGC c.(409-414)gggctgfs p.L138fs CSNK1E_ENST00000405675.3_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000400206.2_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000359867.3_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000413574.2_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000403904.1_Frame_Shift_Del_p.L138fs NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 138 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) TTCTTCCCCAGCCCCATGAGGA 0.584 72 68 --- --- --- --- CACNA1F 778 broad.mit.edu 37 X 49089732 49089749 + In_Frame_Del DEL GAAGGATTCTCTCACCTT GAAGGATTCTCTCACCTT - TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 612fd956-9a41-4201-9d74-6ab50f6ae987 02addf8a-9108-4a60-bba3-c45d654a30f7 g.chrX:49089732_49089749delGAAGGATTCTCTCACCTT ENST00000376251.1 - 1 22_39 c.23_40delAAGGTGAGAGAATCCTTC c.(22-42)aaaggtgagagaatccttcca>aca p.8_14KGERILP>T CACNA1F_ENST00000323022.5_Splice_Site_p.KG8del|CACNA1F_ENST00000376265.2_Splice_Site_p.KG8del NM_001256790.1 NP_001243719.1 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 8 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TGCAGGGATGGAAGGATTCTCTCACCTTTCCCGCCTTC 0.578 11 26 --- --- --- ---