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 RNASE3 6037 broad.mit.edu 37 14 21360150 21360150 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:21360150G>T ENST00000304639.3 + 2 363 c.305G>T c.(304-306)aGa>aTa p.R102I NM_002935.2 NP_002926.2 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 102 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1) 9 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) CATCGGAGTAGATTCCGGGTG 0.418000 34 67 2.05212e-20 2.20277e-20 0.812448 1 0 MICAL1 64780 broad.mit.edu 37 6 109768352 109768352 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:109768352G>C ENST00000368952.4 - 17 2498 c.2208C>G c.(2206-2208)ttC>ttG p.F736L MICAL1_ENST00000358807.3_Missense_Mutation_p.F717L|MICAL1_ENST00000358577.3_Missense_Mutation_p.F631L Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 717 LIM zinc-binding. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) AGCTCCGGTGGAAGAAATGGC 0.627000 30 66 0 0 0.779181 0 0 TCP11L2 255394 broad.mit.edu 37 12 106740114 106740114 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:106740114C>G ENST00000299045.3 + 10 1540 c.1366C>G c.(1366-1368)Caa>Gaa p.Q456E NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 456 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 TCCAAGCCCTCAAAAATGCAT 0.398000 12 21 0 0 0.387290 0 0 FAM111B 374393 broad.mit.edu 37 11 58892744 58892744 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:58892744C>G ENST00000343597.3 + 4 1365 c.1174C>G c.(1174-1176)Caa>Gaa p.Q392E FAM111B_ENST00000529618.1_Missense_Mutation_p.Q362E|FAM111B_ENST00000411426.1_Missense_Mutation_p.Q362E NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 392 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 AAAGAATTATCAAACGTTGAA 0.388000 22 66 0 0 0.639603 0 0 SLC5A4 6527 broad.mit.edu 37 22 32626965 32626965 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:32626965C>G ENST00000266086.4 - 10 1130 c.1119G>C c.(1117-1119)ctG>ctC p.L373L RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 373 carbohydrate transport|sodium ion transport integral to membrane symporter activity 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 CTTGGGGCATCAGTTCCAGCA 0.537000 14 44 0 0 0.539581 0 0 MAN1B1 11253 broad.mit.edu 37 9 140002847 140002847 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:140002847C>G ENST00000371589.4 + 13 1977 c.1904C>G c.(1903-1905)tCg>tGg p.S635W MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.S338W NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 635 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CAGGTCCCCTCGGGTGGCTAT 0.612000 7 39 0 0 0.361761 0 0 GATC 283459 broad.mit.edu 37 12 120884567 120884567 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:120884567C>T ENST00000551806.1 + 3 283 c.283C>T c.(283-285)Cgc>Tgc p.R95C GATC_ENST00000551765.1_Silent_p.F63F CTATCGCCTTCGCCGACCGGC 0.667000 12 29 0 0 0.457914 0 0 ARAP2 116984 broad.mit.edu 37 4 36152544 36152544 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:36152544C>G ENST00000303965.4 - 16 3364 c.2875G>C c.(2875-2877)Gag>Cag p.E959Q NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 959 PH 3. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TAGAAGTCCTCTTTGTGTATA 0.343000 58 117 0 0 0.870114 0 0 TRHDE 29953 broad.mit.edu 37 12 72666768 72666768 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:72666768G>C ENST00000261180.4 + 1 306 c.210G>C c.(208-210)gcG>gcC p.A70A TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 70 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AGTGCGGGGCGAGTGCCACGC 0.706000 4 4 0 0 0.150653 0 0 PRDM15 63977 broad.mit.edu 37 21 43291624 43291624 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:43291624G>A ENST00000269844.3 - 4 630 c.520C>T c.(520-522)Cgc>Tgc p.R174C PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|AP001619.3_ENST00000458654.1_RNA|PRDM15_ENST00000422911.1_Intron NM_022115.3 NP_071398.3 P57071 PRD15_HUMAN PR domain containing 15 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GCAGGATTGCGTCGCAGGCCT 0.592000 24 61 0 0 0.717897 0 0 ZNF623 9831 broad.mit.edu 37 8 144732816 144732816 + Silent SNP G G T rs147942891 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:144732816G>T ENST00000501748.2 + 1 863 c.774G>T c.(772-774)acG>acT p.T258T ZNF623_ENST00000458270.2_Silent_p.T218T|ZNF623_ENST00000526926.1_Silent_p.T218T NM_014789.3 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T258T(1) endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGATTCACACGGGAGAAAGGC 0.468000 3 59 0.150653 0.152059 0.150653 1 0 CYP4F8 11283 broad.mit.edu 37 19 15734173 15734173 + RNA SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:15734173C>T ENST00000441682.2 + 0 967 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TTGATGTGCTCCTGCTGAGCG 0.537000 12 34 0 0 0.479597 0 0 SSBP4 170463 broad.mit.edu 37 19 18543520 18543520 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:18543520C>G ENST00000270061.7 + 12 1055 c.761C>G c.(760-762)tCc>tGc p.S254C SSBP4_ENST00000348495.6_Missense_Mutation_p.S232C NM_032627.4 NP_116016.1 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 Pro-rich. nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 ATCCCCTACTCCTCCTCATCC 0.642000 7 16 0 0 0.335167 0 0 LYN 4067 broad.mit.edu 37 8 56866484 56866484 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:56866484G>A ENST00000520220.2 + 8 942 c.668G>A c.(667-669)cGg>cAg p.R223Q LYN_ENST00000519728.1_Missense_Mutation_p.R244Q NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 244 SH2. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) GAGATCCCCCGGGAGTCCATC 0.527000 18 72 0 0 0.624587 0 0 FAR1 84188 broad.mit.edu 37 11 13733312 13733312 + Splice_Site SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:13733312G>C ENST00000354817.3 + 6 869 c.725G>C c.(724-726)gGa>gCa p.G242A FAR1_ENST00000527202.1_3'UTR NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 242 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 TGGTATTAGGGATGGATTGAT 0.294000 13 91 0 0 0.500413 0 0 CHMP2A 27243 broad.mit.edu 37 19 59063468 59063468 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:59063468C>T ENST00000600118.1 - 3 858 c.433G>A c.(433-435)Gat>Aat p.D145N CHMP2A_ENST00000312547.2_Missense_Mutation_p.D145N|CHMP2A_ENST00000601220.1_Missense_Mutation_p.D145N O43633 CHM2A_HUMAN charged multivesicular body protein 2A 145 Interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 7 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TCAATGGCATCATTCATCATC 0.517000 39 181 0 0 0.853193 0 0 MUC16 94025 broad.mit.edu 37 19 9001862 9001862 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:9001862C>G ENST00000397910.4 - 53 40589 c.40386G>C c.(40384-40386)tcG>tcC p.S13462S MUC16_ENST00000380951.5_Silent_p.S103S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13464 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGGAGTTCTCGAGGTTGCCA 0.493000 5 15 0 0 0.387290 0 0 PDSS2 57107 broad.mit.edu 37 6 107780313 107780313 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:107780313G>A ENST00000369037.4 - 1 454 c.177C>T c.(175-177)atC>atT p.I59I PDSS2_ENST00000369031.4_Silent_p.I59I|PDSS2_ENST00000453874.2_Silent_p.I59I NM_020381.3 NP_065114.3 Q86YH6 DLP1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 2 59 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3) 19 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) GGTACCCCACGATCTTCTCCG 0.637000 OREG0017595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 38 0 0 0.248553 0 0 MED23 9439 broad.mit.edu 37 6 131908944 131908944 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:131908944G>A ENST00000403834.3 - 29 4173 c.4000C>T c.(4000-4002)Cgt>Tgt p.R1334C MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Missense_Mutation_p.R1328C|MED23_ENST00000368068.3_Missense_Mutation_p.R1328C|MED23_ENST00000545957.1_Missense_Mutation_p.R969C|MED23_ENST00000354577.4_Missense_Mutation_p.R1334C|MED23_ENST00000368058.1_Missense_Mutation_p.R1334C Q9ULK4 MED23_HUMAN mediator complex subunit 23 1328 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) AATCGAAGACGAAGTTTTAAA 0.403000 3 20 0 0 0.115264 0 0 TOP2A 7153 broad.mit.edu 37 17 38563833 38563833 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:38563833G>A ENST00000423485.1 - 13 1752 c.1594C>T c.(1594-1596)Cgt>Tgt p.R532C NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 532 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TTCCCATAACGAAGCGTCTTC 0.294000 7 14 0 0 0.307466 0 0 ATP2B2 491 broad.mit.edu 37 3 10379906 10379906 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:10379906C>T ENST00000397077.1 - 21 3814 c.3239G>A c.(3238-3240)cGg>cAg p.R1080Q ATP2B2_ENST00000383800.4_Missense_Mutation_p.R1080Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R1125Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R1111Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R1125Q Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1125 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GATCTGGCCCCGCCGCAGCTC 0.682000 12 233 0 0 0.457914 0 0 PADI3 51702 broad.mit.edu 37 1 17586130 17586130 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:17586130C>T ENST00000375460.3 + 2 190 c.150C>T c.(148-150)atC>atT p.I50I NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 50 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GCGTGGACATCTACATCTCTC 0.592000 17 72 0 0 0.592651 0 0 TIMM44 10469 broad.mit.edu 37 19 7992547 7992547 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:7992547C>T ENST00000270538.3 - 12 1502 c.1234G>A c.(1234-1236)Gac>Aac p.D412N TIMM44_ENST00000598968.1_5'UTR NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 412 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 CTCACCGGGTCACCCTCCACC 0.632000 20 157 0 0 0.681144 0 0 KRTAP9-8 83901 broad.mit.edu 37 17 39394331 39394331 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:39394331C>T ENST00000254072.6 + 1 35 c.28C>T c.(28-30)Cag>Tag p.Q10* NM_031963.2 NP_114169.2 Q9BYQ0 KRA98_HUMAN keratin associated protein 9-8 10 15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament lung(8)|ovary(1)|prostate(1) 10 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCCTTGCTGTCAGCCTACGTG 0.592000 22 133 0 0 0.667858 0 0 KIAA1045 23349 broad.mit.edu 37 9 34972478 34972478 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:34972478G>A ENST00000242315.3 + 3 596 c.514G>A c.(514-516)Gag>Aag p.E172K KIAA1045_ENST00000544237.1_Missense_Mutation_p.E172K|KIAA1045_ENST00000476115.2_3'UTR NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 172 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) CAGTGCAGCGGAGGTGACGGA 0.597000 14 96 0 0 0.557998 0 0 PTH2R 5746 broad.mit.edu 37 2 209358298 209358298 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:209358298G>A ENST00000272847.2 + 13 1780 c.1567G>A c.(1567-1569)Gat>Aat p.D523N AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 523 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GCAGGGAGATGATATTCTAAT 0.493000 26 55 0 0 0.654019 0 0 FAM111B 374393 broad.mit.edu 37 11 58893519 58893519 + Nonsense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:58893519C>G ENST00000343597.3 + 4 2140 c.1949C>G c.(1948-1950)tCa>tGa p.S650* FAM111B_ENST00000529618.1_Nonsense_Mutation_p.S620*|FAM111B_ENST00000411426.1_Nonsense_Mutation_p.S620* NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 650 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 GATGGGTCCTCAGGCTCCCCA 0.398000 10 50 0 0 0.411799 0 0 CASP8 841 broad.mit.edu 37 2 202149751 202149751 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:202149751C>T ENST00000358485.4 + 8 1388 c.1192C>T c.(1192-1194)Cag>Tag p.Q398* CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q339*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324* NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 339 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.Q356*(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 GCTGACATCTCAGTTCACTGG 0.478000 HNSCC(4;0.00038) 38 109 0 0 0.853193 0 0 POLR3A 11128 broad.mit.edu 37 10 79750904 79750904 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:79750904C>T ENST00000372371.3 - 21 2946 c.2809G>A c.(2809-2811)Gag>Aag p.E937K NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 937 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGAGCAGGCTCACTGGGACAC 0.502000 30 22 0 0 0.788014 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560549 44560549 + Missense_Mutation SNP A A T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:44560549A>T ENST00000332567.4 - 1 1439 c.1087T>A c.(1087-1089)Tcc>Acc p.S363T KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 363 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCAGAGAGGGAGCTCACGGAC 0.542000 9 88 0 0 0.335167 0 0 PSMD5 5711 broad.mit.edu 37 9 123593680 123593680 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:123593680C>T ENST00000210313.3 - 4 564 c.490G>A c.(490-492)Gaa>Aaa p.E164K PSMD5_ENST00000373904.5_Intron|PSMD5-AS1_ENST00000589026.1_RNA NM_001270427.1|NM_005047.3 NP_001257356.1|NP_005038.1 Q16401 PSMD5_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 164 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1) 10 AGATTGCTTTCAAATAAAGCC 0.368000 15 77 0 0 0.500413 0 0 PRDM4 11108 broad.mit.edu 37 12 108145485 108145485 + Missense_Mutation SNP T T A rs148244009 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:108145485T>A ENST00000228437.5 - 5 1292 c.833A>T c.(832-834)aAt>aTt p.N278I RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 278 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 AGACATGCCATTGACCCGACT 0.557000 11 40 0 0 0.457914 0 0 ZNF644 84146 broad.mit.edu 37 1 91405439 91405439 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:91405439C>T ENST00000370440.1 - 3 1689 c.1472G>A c.(1471-1473)gGa>gAa p.G491E ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G491E Q9H582 ZN644_HUMAN zinc finger protein 644 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TGCACTTCTTCCTTCATCCTG 0.388000 29 87 0 0 0.750413 0 0 COA1 55744 broad.mit.edu 37 7 43679188 43679188 + Missense_Mutation SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:43679188T>C ENST00000395879.1 - 5 2115 c.434A>G c.(433-435)aAg>aGg p.K145R COA1_ENST00000223336.6_Missense_Mutation_p.K145R|COA1_ENST00000310564.6_Missense_Mutation_p.K145R|COA1_ENST00000488813.1_5'UTR|COA1_ENST00000395880.3_Missense_Mutation_p.K145R cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) TCTCTACTCCTTTTTCACTTC 0.517000 3 135 0 0 0.115264 0 0 ZNF749 388567 broad.mit.edu 37 19 57956341 57956341 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:57956341G>A ENST00000334181.4 + 3 2075 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TCACACTGGAGAAAAGCCTTA 0.388000 7 57 0 0 0.335167 0 0 NME9 347736 broad.mit.edu 37 3 138024920 138024920 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:138024920C>G ENST00000383180.2 - 9 616 c.379G>C c.(379-381)Gaa>Caa p.E127Q NME9_ENST00000333911.3_Missense_Mutation_p.E188Q|NME9_ENST00000484930.1_Missense_Mutation_p.E125Q|NME9_ENST00000317876.4_Missense_Mutation_p.E127Q|NME9_ENST00000341790.5_Missense_Mutation_p.E125Q|NME9_ENST00000536478.1_Missense_Mutation_p.E127Q NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 188 cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity GTTAGAATTTCAAACCCAGCT 0.353000 11 66 0 0 0.411799 0 0 SRCAP 10847 broad.mit.edu 37 16 30749040 30749040 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:30749040C>G ENST00000262518.4 + 34 8064 c.7679C>G c.(7678-7680)tCt>tGt p.S2560C SRCAP_ENST00000344771.4_Missense_Mutation_p.S2402C|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2498C NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2560 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCATTGGCATCTCCAGAGTCC 0.562000 17 43 0 0 0.520397 0 0 ARID1A 8289 broad.mit.edu 37 1 27094291 27094291 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:27094291C>T ENST00000324856.7 + 11 3370 c.2999C>T c.(2998-3000)tCt>tTt p.S1000F ARID1A_ENST00000457599.2_Missense_Mutation_p.S1000F|ARID1A_ENST00000374152.2_Missense_Mutation_p.S617F NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1000 Poly-Ser. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.S1000Y(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AAATCCAGTTCTTCTACTACA 0.473000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 11 26 0 0 0.387290 0 0 SNX14 57231 broad.mit.edu 37 6 86253327 86253327 + Silent SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:86253327T>C ENST00000314673.3 - 13 1436 c.1260A>G c.(1258-1260)caA>caG p.Q420Q SNX14_ENST00000369627.2_Silent_p.Q420Q|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Silent_p.Q368Q|SNX14_ENST00000346348.3_Silent_p.Q376Q|SNX14_ENST00000513865.1_Silent_p.Q420Q NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 420 RGS. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) ACTTACTTCTTTGAATCTCTT 0.318000 3 8 0 0 0.115264 0 0 KPNA1 3836 broad.mit.edu 37 3 122152626 122152626 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:122152626C>T ENST00000344337.6 - 12 1308 c.1132G>A c.(1132-1134)Gat>Aat p.D378N RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'UTR NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 378 Binding to RAG1.|NLS binding site (minor) (By similarity). DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) ATGTTGGCATCTATCACAGTC 0.323000 5 31 0 0 0.217242 0 0 CDK18 5129 broad.mit.edu 37 1 205492648 205492648 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:205492648G>A ENST00000360066.2 + 3 469 c.168G>A c.(166-168)caG>caA p.Q56Q CDK18_ENST00000429964.2_Silent_p.Q56Q|CDK18_ENST00000506784.1_Silent_p.Q56Q|CDK18_ENST00000509056.1_Intron NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 54 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 ACCCCCCGCAGGAGTGCAGCA 0.667000 3 19 0 0 0.150653 0 0 FUT3 2525 broad.mit.edu 37 19 5844334 5844334 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:5844334C>T ENST00000303225.6 - 3 1151 c.517G>A c.(517-519)Gag>Aag p.E173K FUT3_ENST00000589620.1_Missense_Mutation_p.E173K|FUT3_ENST00000589918.1_Missense_Mutation_p.E173K|FUT3_ENST00000458379.2_Missense_Mutation_p.E173K NM_000149.3 NP_000140 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 173 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GACCACGGCTCCAGCCAGCCG 0.647000 14 28 0 0 0.557998 0 0 KIAA1045 23349 broad.mit.edu 37 9 34971383 34971383 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:34971383G>C ENST00000242315.3 + 2 170 c.88G>C c.(88-90)Gac>Cac p.D30H KIAA1045_ENST00000544237.1_Missense_Mutation_p.D30H|KIAA1045_ENST00000476115.2_Intron NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 30 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) TGGGCTGCGGGACAGGCCTTC 0.617000 8 87 0 0 0.387290 0 0 CLEC1B 51266 broad.mit.edu 37 12 10145870 10145870 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:10145870C>G ENST00000428126.2 - 7 732 c.463G>C c.(463-465)Gat>Cat p.D155H CLEC1B_ENST00000348658.4_Missense_Mutation_p.D155H|CLEC1B_ENST00000298527.6_Missense_Mutation_p.D188H Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 188 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 CCTTTTCCATCTTCCAAAAAC 0.358000 19 37 0 0 0.592651 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48596430 48596430 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:48596430C>A ENST00000323776.5 + 6 1039 c.877C>A c.(877-879)Cca>Aca p.P293T MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P256T NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 256 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CTGCACACTTCCAACCCGGCG 0.617000 5 52 0.00198382 0.00204039 0.248553 1 0 MCM4 4173 broad.mit.edu 37 8 48874078 48874078 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:48874078C>T ENST00000262105.2 + 2 282 c.73C>T c.(73-75)Cgg>Tgg p.R25W MCM4_ENST00000523944.1_Missense_Mutation_p.R25W NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 25 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GACACAAGCTCGGAGTGAGGA 0.547000 12 53 0 0 0.479597 0 0 DRAM2 128338 broad.mit.edu 37 1 111674048 111674048 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:111674048G>A ENST00000286692.4 - 3 746 c.129C>T c.(127-129)atC>atT p.I43I DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Silent_p.I43I Q6UX65 DRAM2_HUMAN DNA-damage regulated autophagy modulator 2 43 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane endometrium(1)|large_intestine(5)|lung(3) 9 TCACTTACCTGATATAAGGTA 0.338000 16 69 0 0 0.557998 0 0 ZNF136 7695 broad.mit.edu 37 19 12296680 12296680 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:12296680C>G ENST00000343979.4 + 2 224 c.84C>G c.(82-84)ctC>ctG p.L28L ZNF136_ENST00000398616.2_Intron NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 28 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 AGAAGAATCTCTACAGAGATG 0.443000 23 41 0 0 0.717897 0 0 IGLV7-46 28775 broad.mit.edu 37 22 22724419 22724419 + RNA SNP T T A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:22724419T>A ENST00000390295.2 + 0 349 AGGATGAGGCTGAGTATTACT 0.567000 62 37 0 0 0.870114 0 0 PCDH17 27253 broad.mit.edu 37 13 58208645 58208645 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr13:58208645G>A ENST00000377918.3 + 1 1991 c.1965G>A c.(1963-1965)gtG>gtA p.V655V NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 655 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GGGAGGACGTGACGCCCGTGG 0.637000 61 107 0 0 0.870114 0 0 SPHKAP 80309 broad.mit.edu 37 2 228855860 228855860 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:228855860C>G ENST00000392056.3 - 11 4861 c.4815G>C c.(4813-4815)caG>caC p.Q1605H SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q1576H NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1605 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCAGGCTCCTCTGGGGGCTGG 0.577000 12 36 0 0 0.411799 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181751 57181751 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:57181751G>A ENST00000504228.1 + 6 2188 c.2083G>A c.(2083-2085)Gat>Aat p.D695N KIAA1211_ENST00000541073.1_Missense_Mutation_p.D688N|KIAA1211_ENST00000264229.6_Missense_Mutation_p.D695N Q6ZU35 K1211_HUMAN KIAA1211 695 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GAGGCCCGGTGATGAGTCCAC 0.592000 22 97 0 0 0.706142 0 0 RB1 5925 broad.mit.edu 37 13 49039354 49039354 + Nonsense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr13:49039354C>A ENST00000267163.4 + 23 2477 c.2339C>A c.(2338-2340)tCa>tAa p.S780* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 780 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. 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.0?(15)|p.?(11) 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) CCTACCTTGTCACCAATACCT 0.388000 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) 46 67 1.00798e-23 1.08629e-23 0.870114 1 0 NDUFAF5 79133 broad.mit.edu 37 20 13765904 13765904 + Nonsense_Mutation SNP G G T rs147117631 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:13765904G>T ENST00000378106.5 + 1 309 c.190G>T c.(190-192)Gag>Tag p.E64* NDUFAF5_ENST00000463598.1_Nonsense_Mutation_p.E64*|NDUFAF5_ENST00000475968.1_3'UTR NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 64 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity CCGGCAGCCCGAGCCGACCAA 0.632000 3 18 0.004672 0.00479611 0.115264 1 0 CDRT1 374286 broad.mit.edu 37 17 15522810 15522810 + Nonsense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:15522810G>C ENST00000395906.3 - 1 16 c.17C>G c.(16-18)tCa>tGa p.S6* RP11-385D13.1_ENST00000455584.2_Intron NM_006382.3 NP_006373.2 O95170 CDRT1_HUMAN CMT1A duplicated region transcript 1 6 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) CTTGAGCCTTGATTCCAGGTT 0.498000 110 219 0 0 0.870114 0 0 TP53 7157 broad.mit.edu 37 17 7578239 7578239 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:7578239C>G ENST00000420246.2 - 6 742 c.610G>C c.(610-612)Gag>Cag p.E204Q TP53_ENST00000445888.2_Missense_Mutation_p.E204Q|TP53_ENST00000359597.4_Missense_Mutation_p.E204Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.E204Q|TP53_ENST00000269305.4_Missense_Mutation_p.E204Q|TP53_ENST00000455263.2_Missense_Mutation_p.E204Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 204 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCCAAATACTCCACACGCAAA 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 39 0 0 0.667858 0 0 TLL2 7093 broad.mit.edu 37 10 98155024 98155024 + Nonsense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:98155024G>T ENST00000357947.3 - 13 1871 c.1646C>A c.(1645-1647)tCg>tAg p.S549* TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 549 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GTTGGAGCTCGATTTCACATC 0.493000 24 40 1.87854e-15 2.00848e-15 0.870114 1 0 ALS2CR12 130540 broad.mit.edu 37 2 202164015 202164015 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:202164015C>G ENST00000405148.2 - 12 1331 c.888G>C c.(886-888)ttG>ttC p.L296F ALS2CR12_ENST00000392257.3_Missense_Mutation_p.L296F|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.L296F|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.L296F NM_139163.2 NP_631902.2 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 296 regulation of GTPase activity protein binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2) 21 GATGTTGTTTCAAGAGCTCCT 0.378000 23 66 0 0 0.667858 0 0 PPP4R4 57718 broad.mit.edu 37 14 94693666 94693666 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:94693666C>T ENST00000328839.3 + 4 466 c.338C>T c.(337-339)tCa>tTa p.S113L PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000304338.3_Intron NM_020958.2 NP_066009.2 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 0 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 GTATGGATCTCACATATGTTT 0.378000 21 57 0 0 0.667858 0 0 PALLD 23022 broad.mit.edu 37 4 169433557 169433557 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:169433557G>A ENST00000261509.6 + 2 1113 c.902G>A c.(901-903)cGa>cAa p.R301Q PALLD_ENST00000505667.1_Missense_Mutation_p.R301Q|PALLD_ENST00000333488.4_Missense_Mutation_p.R178Q|PALLD_ENST00000335742.7_5'UTR NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 301 Ig-like C2-type 1. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CCCACTCCTCGAGTCAGGTAT 0.443000 Pancreatic Cancer, Familial Clustering of 12 20 0 0 0.411799 0 0 ZNF880 400713 broad.mit.edu 37 19 52887440 52887440 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:52887440C>G ENST00000422689.2 + 4 622 c.607C>G c.(607-609)Caa>Gaa p.Q203E NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 203 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 TGCTAACAATCAAGTAATCCA 0.373000 6 16 0 0 0.217242 0 0 MYH11 4629 broad.mit.edu 37 16 15809038 15809038 + Missense_Mutation SNP C C T rs148743922 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:15809038C>T ENST00000452625.2 - 40 5704 c.5617G>A c.(5617-5619)Gag>Aag p.E1873K MYH11_ENST00000576790.2_Missense_Mutation_p.E1866K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1873K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1866K|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1866 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TTGTACTGCTCGGCCATCTTG 0.622000 T CBFB AML 13 97 0 0 0.479597 0 0 ZNF594 84622 broad.mit.edu 37 17 5086808 5086808 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:5086808G>T ENST00000399604.4 - 1 884 c.744C>A c.(742-744)ttC>ttA p.F248L ZNF594_ENST00000575779.1_Missense_Mutation_p.F248L Q96JF6 ZN594_HUMAN zinc finger protein 594 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGCTTTGACTGAAAGCCTTCC 0.428000 72 84 8.87156e-34 9.61826e-34 0.870114 1 0 EIF4E2 9470 broad.mit.edu 37 2 233431865 233431865 + Silent SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:233431865A>G ENST00000409514.1 + 6 648 c.606A>G c.(604-606)cgA>cgG p.R202R EIF4E2_ENST00000258416.3_Silent_p.R202R|EIF4E2_ENST00000409322.1_Silent_p.R157R|EIF4E2_ENST00000409394.1_Silent_p.R157R|EIF4E2_ENST00000409098.1_Silent_p.R202R|EIF4E2_ENST00000409495.1_Silent_p.R202R|EIF4E2_ENST00000409167.3_Silent_p.R157R NM_001282958.1 NP_001269887.1 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 202 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CACTTCGGCGAGTGCTTAACC 0.488000 49 146 0 0 0.870114 0 0 PARD3B 117583 broad.mit.edu 37 2 206023472 206023472 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:206023472C>G ENST00000406610.2 + 11 1668 c.1461C>G c.(1459-1461)ctC>ctG p.L487L PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Silent_p.L487L|PARD3B_ENST00000462231.1_Silent_p.L487L|PARD3B_ENST00000351153.1_Silent_p.L487L NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 487 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GCTGTGCACTCTCTCTGGAGA 0.463000 32 113 0 0 0.796494 0 0 YLPM1 56252 broad.mit.edu 37 14 75230697 75230697 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:75230697C>T ENST00000325680.7 + 1 629 c.505C>T c.(505-507)Cag>Tag p.Q169* YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Q169*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q169* NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 19 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GCCCCCACCTCAGCCGCCACC 0.622000 9 17 0 0 0.307466 0 0 COL1A2 1278 broad.mit.edu 37 7 94058695 94058695 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:94058695G>A ENST00000297268.6 + 51 4378 c.3907G>A c.(3907-3909)Gag>Aag p.E1303K NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1303 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ACTTGTTGCTGAGGGCAACAG 0.458000 HNSCC(75;0.22) 14 50 0 0 0.520397 0 0 FAM135B 51059 broad.mit.edu 37 8 139164734 139164734 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:139164734G>A ENST00000395297.1 - 13 2154 c.1984C>T c.(1984-1986)Cac>Tac p.H662Y NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 662 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCTTCTGTGTGAGAGTCCTTT 0.502000 HNSCC(54;0.14) 24 63 0 0 0.706142 0 0 TOPBP1 11073 broad.mit.edu 37 3 133374177 133374177 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:133374177C>T ENST00000260810.5 - 6 830 c.699G>A c.(697-699)ttG>ttA p.L233L TOPBP1_ENST00000511439.1_5'UTR NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 233 BRCT 2. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 CATTCATTTTCAATTGTCCCA 0.363000 Other conserved DNA damage response genes 34 77 0 0 0.827153 0 0 ABCD3 5825 broad.mit.edu 37 1 94953293 94953293 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:94953293C>G ENST00000370214.4 + 12 1035 c.1011C>G c.(1009-1011)ttC>ttG p.F337L ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.F264L|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Missense_Mutation_p.F361L NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 337 ABC transmembrane type-1. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) GTCGCCCTTTCTTAGATTTGT 0.363000 18 85 0 0 0.760397 0 0 ZNF599 148103 broad.mit.edu 37 19 35250830 35250830 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:35250830G>A ENST00000329285.8 - 4 1249 c.876C>T c.(874-876)ttC>ttT p.F292F NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AGCGGTGGGTGAATGCTTTGC 0.453000 42 96 0 0 0.864702 0 0 TTC3 7267 broad.mit.edu 37 21 38568048 38568048 + Missense_Mutation SNP A A T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:38568048A>T ENST00000399017.2 + 42 8037 c.5290A>T c.(5290-5292)Act>Tct p.T1764S TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.T1764S|TTC3_ENST00000354749.2_Missense_Mutation_p.T1764S NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1764 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AAGCGACGTGACTGGAAACCA 0.587000 18 105 0 0 0.557998 0 0 SHC3 53358 broad.mit.edu 37 9 91667005 91667005 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:91667005G>C ENST00000375835.4 - 7 1215 c.909C>G c.(907-909)ctC>ctG p.L303L SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 303 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 GCTTAAACCGGAGCTCAAAGG 0.488000 7 73 0 0 0.248553 0 0 ABCC1 4363 broad.mit.edu 37 16 16110412 16110412 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:16110412C>T ENST00000399408.2 + 5 724 c.549C>T c.(547-549)ctC>ctT p.L183L ABCC1_ENST00000345148.5_Silent_p.L183L|ABCC1_ENST00000351154.5_Silent_p.L183L|ABCC1_ENST00000346370.5_Silent_p.L183L|ABCC1_ENST00000349029.5_Silent_p.L183L|ABCC1_ENST00000399410.3_Silent_p.L183L P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 183 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCCTCTTACTCATTCAGCTCG 0.493000 53 276 0 0 0.870114 0 0 SPATS2L 26010 broad.mit.edu 37 2 201305422 201305422 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:201305422C>T ENST00000358677.5 + 8 950 c.703C>T c.(703-705)Cta>Tta p.L235L SPATS2L_ENST00000409755.3_Silent_p.L265L|SPATS2L_ENST00000409385.1_Silent_p.L175L|SPATS2L_ENST00000409151.1_Silent_p.L243L|SPATS2L_ENST00000409140.3_Silent_p.L235L|SPATS2L_ENST00000409718.1_Silent_p.L235L|SPATS2L_ENST00000451764.2_Silent_p.L235L|SPATS2L_ENST00000409988.3_Silent_p.L235L|SPATS2L_ENST00000360760.5_Silent_p.L166L NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2 NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like cytoplasm|nucleolus endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 CACCGTTTCTCTAACTAGATA 0.373000 21 38 0 0 0.592651 0 0 RNF19A 25897 broad.mit.edu 37 8 101270981 101270981 + Nonsense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:101270981G>A ENST00000519449.1 - 11 2636 c.2320C>T c.(2320-2322)Cag>Tag p.Q774* RNF19A_ENST00000341084.2_Nonsense_Mutation_p.Q774* NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 774 Interaction with CASR. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) ATGCTACACTGATGTGGGGAA 0.398000 28 64 0 0 0.717897 0 0 ASAP2 8853 broad.mit.edu 37 2 9484706 9484706 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:9484706C>A ENST00000281419.3 + 10 1235 c.895C>A c.(895-897)Cag>Aag p.Q299K ASAP2_ENST00000315273.4_Missense_Mutation_p.Q299K NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 299 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 ACATCAGCCTCAGGGAAACAA 0.458000 24 66 2.2171e-23 2.3846e-23 0.740014 1 0 TP53 7157 broad.mit.edu 37 17 7578488 7578488 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:7578488C>T ENST00000420246.2 - 5 574 c.442G>A c.(442-444)Gat>Aat p.D148N TP53_ENST00000445888.2_Missense_Mutation_p.D148N|TP53_ENST00000359597.4_Missense_Mutation_p.D148N|TP53_ENST00000413465.2_Missense_Mutation_p.D148N|TP53_ENST00000269305.4_Missense_Mutation_p.D148N|TP53_ENST00000455263.2_Missense_Mutation_p.D148N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 148 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a sporadic cancer; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.D148N(4)|p.D148fs*23(2)|p.D148fs*33(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.D148Y(1)|p.W146_S149>C(1)|p.D148del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.D148fs*34(1)|p.D148fs*22(1)|p.D148fs*32(1)|p.D148*(1)|p.D148H(1)|p.V143_S149del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTGTGGAATCAACCCACAGC 0.602000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 36 32 0 0 0.827153 0 0 EPG5 57724 broad.mit.edu 37 18 43496060 43496060 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:43496060G>A ENST00000282041.5 - 19 3530 c.3496C>T c.(3496-3498)Ctc>Ttc p.L1166F EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1166 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATGAGGAAGAGGATAGGTTGT 0.468000 6 72 0 0 0.248553 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77325218 77325218 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:77325218G>C ENST00000282849.5 - 21 3765 c.3347C>G c.(3346-3348)cCa>cGa p.P1116R NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1116 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGGATGGGCTGGGCAAGCCCG 0.512000 17 87 0 0 0.557998 0 0 NT5DC3 51559 broad.mit.edu 37 12 104190738 104190738 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:104190738G>A ENST00000392876.3 - 6 727 c.687C>T c.(685-687)tgC>tgT p.C229C NT5DC3_ENST00000465502.1_5'UTR NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 229 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 ATTCATTCACGCAGGACAGGA 0.478000 20 103 0 0 0.592651 0 0 APLNR 187 broad.mit.edu 37 11 57003561 57003561 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:57003561G>A ENST00000606794.1 - 1 1114 c.918C>T c.(916-918)ccC>ccT p.P306P NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 306 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CATAGAGGAAGGGGTTGAGGC 0.607000 8 44 0 0 0.335167 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732208 37732208 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:37732208G>A ENST00000330843.4 - 3 1459 c.1447C>T c.(1447-1449)Ctt>Ttt p.L483F RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.L483F|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.L335F|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.L335F NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 483 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTTCTCACAAGGTCTTCAGCA 0.552000 6 158 0 0 0.217242 0 0 PLCH2 9651 broad.mit.edu 37 1 2420790 2420790 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:2420790G>T ENST00000449969.1 + 9 1460 c.1299G>T c.(1297-1299)caG>caT p.Q433H PLCH2_ENST00000419816.2_Missense_Mutation_p.Q460H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.Q460H|PLCH2_ENST00000378486.3_Missense_Mutation_p.Q460H O75038 PLCH2_HUMAN phospholipase C, eta 2 460 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CCTCTCCACAGATGCTCAAGG 0.582000 11 65 2.80697e-09 2.96018e-09 0.387290 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777151 18777151 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:18777151G>A ENST00000380548.4 + 19 3263 c.2924G>A c.(2923-2925)aGa>aAa p.R975K NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 975 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTGAGCCCGAGAAGTGAGGAA 0.652000 5 40 0 0 0.217242 0 0 KMT2D 8085 broad.mit.edu 37 12 49434740 49434740 + Silent SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:49434740G>T ENST00000301067.7 - 31 6812 c.6813C>A c.(6811-6813)ccC>ccA p.P2271P NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCGAGAGCAGGGGCTCGGAAG 0.632000 7 38 3.86212e-05 4.00269e-05 0.361761 1 0 ZDHHC14 79683 broad.mit.edu 37 6 157803263 157803263 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:157803263C>T ENST00000359775.5 + 1 1099 c.210C>T c.(208-210)ctC>ctT p.L70L ZDHHC14_ENST00000414563.2_Silent_p.L70L Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 70 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CGCTCGTCCTCATCCTGGTCA 0.627000 12 59 0 0 0.435327 0 0 ETNK1 55500 broad.mit.edu 37 12 22797221 22797221 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:22797221C>T ENST00000335148.3 + 3 783 c.760C>T c.(760-762)Ctg>Ttg p.L254L ETNK1_ENST00000266517.4_Intron NM_001039481.1 NP_001034570.1 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 0 RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111). phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GTCAAGGCTTCTGCTTAGTTT 0.343000 8 30 0 0 0.361761 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677474 37677474 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:37677474C>G ENST00000532828.2 - 5 1216 c.965G>C c.(964-966)aGa>aCa p.R322T CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.R267T|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGGCTTCACTCTTGTGTGAAC 0.378000 30 130 0 0 0.788014 0 0 ATP8B3 148229 broad.mit.edu 37 19 1783250 1783250 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:1783250C>T ENST00000539485.1 - 29 3943 c.3710G>A c.(3709-3711)gGc>gAc p.G1237D ATP8B3_ENST00000525591.1_Missense_Mutation_p.G1190D|ATP8B3_ENST00000310127.6_Missense_Mutation_p.G1227D O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1227 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCGCTGGGGCCCTCCTCCAC 0.592000 3 5 0 0 0.150653 0 0 PADI3 51702 broad.mit.edu 37 1 17592186 17592186 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:17592186G>A ENST00000375460.3 + 4 419 c.379G>A c.(379-381)Gga>Aga p.G127R NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 127 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GAACTGTGAGGGAAGGCAGGA 0.547000 11 120 0 0 0.457914 0 0 BTN3A3 10384 broad.mit.edu 37 6 26444498 26444498 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:26444498C>G ENST00000244519.2 + 4 642 c.399C>G c.(397-399)ttC>ttG p.F133L BTN3A3_ENST00000339789.4_Missense_Mutation_p.F91L|BTN3A3_ENST00000361232.3_Missense_Mutation_p.F91L NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 133 Ig-like V-type 1. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 ATGGTGACTTCTACGAAAAAG 0.507000 37 97 0 0 0.834066 0 0 FAP 2191 broad.mit.edu 37 2 163030297 163030297 + Splice_Site SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:163030297G>A ENST00000188790.4 - 23 2177 c.1970C>T c.(1969-1971)gCg>gTg p.A657V FAP_ENST00000443424.1_Splice_Site_p.A632V NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 657 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 GTAGACAGACGCTATAAAATA 0.318000 40 130 0 0 0.870114 0 0 NLRP2 55655 broad.mit.edu 37 19 55508805 55508805 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:55508805G>C ENST00000543010.1 + 12 3143 c.3000G>C c.(2998-3000)aaG>aaC p.K1000N NLRP2_ENST00000427260.2_Missense_Mutation_p.K977N|NLRP2_ENST00000538819.1_Missense_Mutation_p.K976N|NLRP2_ENST00000339757.7_Missense_Mutation_p.K978N|NLRP2_ENST00000391721.4_Missense_Mutation_p.K976N|NLRP2_ENST00000448584.2_Missense_Mutation_p.K1000N|NLRP2_ENST00000263437.6_Missense_Mutation_p.K997N|NLRP2_ENST00000537859.1_Missense_Mutation_p.K978N NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 1000 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTGGAGTGAAGATGCTGTTTG 0.527000 24 133 0 0 0.729181 0 0 IL21 59067 broad.mit.edu 37 4 123542141 123542141 + Missense_Mutation SNP T T A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:123542141T>A ENST00000264497.3 - 1 83 c.26A>T c.(25-27)gAg>gTg p.E9V IL21-AS1_ENST00000417927.1_RNA NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 2 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 GACAATCCTCTCCATGTTGCC 0.463000 14 95 0 0 0.520397 0 0 CC2D2A 57545 broad.mit.edu 37 4 15601285 15601285 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:15601285G>C ENST00000424120.1 + 36 4884 c.4630G>C c.(4630-4632)Gat>Cat p.D1544H CC2D2A_ENST00000503292.1_Missense_Mutation_p.D1544H|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1544H|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1436H Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 1544 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 AGATGTAGAAGATGACCACAG 0.443000 16 22 0 0 0.520397 0 0 FOSB 2354 broad.mit.edu 37 19 45975962 45975962 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:45975962G>A ENST00000353609.3 + 4 1301 c.709G>A c.(709-711)Gag>Aag p.E237K ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000585836.1_Missense_Mutation_p.E162K|FOSB_ENST00000592811.1_Missense_Mutation_p.E188K|FOSB_ENST00000586615.1_Missense_Mutation_p.E188K|FOSB_ENST00000592436.1_Missense_Mutation_p.E237K|FOSB_ENST00000417353.2_Missense_Mutation_p.E201K|FOSB_ENST00000443841.2_Missense_Mutation_p.E94K|FOSB_ENST00000591858.1_Missense_Mutation_p.E198K NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 237 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) CCCGCTGGCGGAGGTGAGAGA 0.667000 9 22 0 0 0.361761 0 0 MMP21 118856 broad.mit.edu 37 10 127455472 127455472 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:127455472G>C ENST00000368808.3 - 7 1468 c.1469C>G c.(1468-1470)aCt>aGt p.T490S NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 490 Hemopexin-like 3. proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAAAACTTCAGTAATCCTCTT 0.333000 7 31 0 0 0.248553 0 0 FAR1 84188 broad.mit.edu 37 11 13732293 13732293 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:13732293G>A ENST00000354817.3 + 5 743 c.599G>A c.(598-600)aGa>aAa p.R200K FAR1_ENST00000527202.1_3'UTR NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 200 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 ATAGGAGACAGACCTAATACA 0.348000 17 173 0 0 0.557998 0 0 RP11-447L10.1 0 broad.mit.edu 37 3 196044975 196044975 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:196044975C>T ENST00000431391.1 - 1 118 c.49G>A c.(49-51)Gag>Aag p.E17K TCTEX1D2_ENST00000325318.5_Missense_Mutation_p.E17K|TM4SF19_ENST00000442633.1_Intron 17 TTCTCAGCCTCAGGCACCCCG 0.662000 3 10 0 0 0.150653 0 0 ZNF385D 79750 broad.mit.edu 37 3 21706481 21706481 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:21706481C>T ENST00000281523.2 - 2 580 c.62G>A c.(61-63)cGt>cAt p.R21H ZNF385D_ENST00000494118.1_Intron NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 21 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GGCTGGTGGACGGACAAGGGC 0.517000 15 45 0 0 0.500413 0 0 PPL 5493 broad.mit.edu 37 16 4934725 4934725 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4934725G>A ENST00000345988.2 - 22 4020 c.3931C>T c.(3931-3933)Ctg>Ttg p.L1311L PPL_ENST00000590782.2_Silent_p.L1309L NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1311 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TTTGCCCTCAGAGACGCCACC 0.557000 24 92 0 0 0.706142 0 0 RNF217 154214 broad.mit.edu 37 6 125284040 125284040 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:125284040G>A ENST00000521654.2 + 1 350 c.350G>A c.(349-351)cGa>cAa p.R117Q RNF217_ENST00000560949.1_5'UTR|RP11-510H23.1_ENST00000439075.1_RNA Q8TC41 RN217_HUMAN ring finger protein 217 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) GCTGGGGATCGAAAAGAGGGA 0.687000 10 31 0 0 0.361761 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622139 41622139 + Missense_Mutation SNP G G A rs142026539 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:41622139G>A ENST00000331105.2 + 2 118 c.46G>A c.(46-48)Gtc>Atc p.V16I NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 16 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 CCTGGCTCTCGTCTGTCTGCT 0.577000 15 121 0 0 0.539581 0 0 DAZAP2 9802 broad.mit.edu 37 12 51634657 51634657 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:51634657C>T ENST00000412716.3 + 3 751 c.135C>T c.(133-135)ctC>ctT p.L45L DAZAP2_ENST00000549555.1_Silent_p.L45L|DAZAP2_ENST00000425012.2_Silent_p.L45L|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000604900.1_Silent_p.L45L|DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000449723.3_Silent_p.L45L|DAZAP2_ENST00000551534.1_3'UTR Q15038 DAZP2_HUMAN DAZ associated protein 2 45 Pro-rich. WW domain binding haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1) 6 TCTTCTAGCTCTATCGTCCGA 0.473000 17 71 0 0 0.608945 0 0 RPL11 6135 broad.mit.edu 37 1 24019138 24019138 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:24019138C>T ENST00000374550.3 + 2 91 c.46C>T c.(46-48)Cgc>Tgc p.R16C RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 16 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) GCGGGAACTTCGCATCCGCAA 0.547000 52 125 0 0 0.870114 0 0 UBN1 29855 broad.mit.edu 37 16 4924307 4924307 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4924307G>C ENST00000396658.4 + 14 2599 c.1896G>C c.(1894-1896)ctG>ctC p.L632L UBN1_ENST00000262376.6_Silent_p.L632L|UBN1_ENST00000590769.1_Silent_p.L632L|UBN1_ENST00000545171.1_Silent_p.L632L NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 632 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 CAGGAGGCCTGAGTATTGGGG 0.542000 21 98 0 0 0.654019 0 0 GPA33 10223 broad.mit.edu 37 1 167059489 167059489 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:167059489G>C ENST00000367868.3 - 1 379 c.36C>G c.(34-36)ctC>ctG p.L12L NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 12 integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CACCTGCACAGAGTGTCCACA 0.582000 11 33 0 0 0.435327 0 0 ANKIB1 54467 broad.mit.edu 37 7 92027682 92027682 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:92027682G>C ENST00000265742.3 + 20 3065 c.2689G>C c.(2689-2691)Gac>Cac p.D897H NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 897 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTCCAGGCTGGACTCTGTCCC 0.507000 3 12 0 0 0.115264 0 0 PARP1 142 broad.mit.edu 37 1 226595555 226595555 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:226595555C>G ENST00000366794.5 - 1 219 c.76G>C c.(76-78)Gag>Cag p.E26Q PARP1_ENST00000366792.1_Missense_Mutation_p.E26Q|PARP1_ENST00000366791.5_Missense_Mutation_p.E26Q|PARP1_ENST00000366790.3_Missense_Mutation_p.E26Q NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 26 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GGGATGCTCTCGCTGCATTTC 0.667000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 3 17 0 0 0.115264 0 0 INTS8 55656 broad.mit.edu 37 8 95885644 95885644 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:95885644C>T ENST00000523731.1 + 22 2709 c.2576C>T c.(2575-2577)gCa>gTa p.A859V INTS8_ENST00000447247.1_Missense_Mutation_p.A859V NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 859 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) TACCTCCAGGCAGGAGCTGTG 0.448000 97 251 0 0 0.870114 0 0 ZC3H4 23211 broad.mit.edu 37 19 47572355 47572355 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:47572355C>T ENST00000253048.5 - 14 2429 c.2392G>A c.(2392-2394)Gag>Aag p.E798K ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 798 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GTGCCTTCCTCATTCTCCCGG 0.677000 39 107 0 0 0.834066 0 0 GABRG1 2565 broad.mit.edu 37 4 46060594 46060594 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:46060594G>A ENST00000295452.4 - 6 838 c.671C>T c.(670-672)tCc>tTc p.S224F NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 224 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CACTTCTACGGAGGGCTTTTT 0.358000 5 27 0 0 0.217242 0 0 TENC1 23371 broad.mit.edu 37 12 53444019 53444019 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:53444019G>A ENST00000314250.6 + 1 340 c.50G>A c.(49-51)aGg>aAg p.R17K TENC1_ENST00000552570.1_Missense_Mutation_p.R17K|TENC1_ENST00000451358.1_Missense_Mutation_p.R17K|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000379902.3_Intron|TENC1_ENST00000314276.3_Intron|TENC1_ENST00000549700.1_Missense_Mutation_p.R17K|TENC1_ENST00000546602.1_Missense_Mutation_p.R17K|RP11-983P16.4_ENST00000550601.1_RNA NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 17 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CTGGGGAGGAGGGACAGCAGC 0.692000 4 11 0 0 0.184627 0 0 ZNF833P 401898 broad.mit.edu 37 19 11793406 11793406 + RNA SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:11793406G>T ENST00000344893.3 + 0 1608 NR_028594.1 endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 CACCCAGGAGGAGTGGGCTTT 0.498000 38 83 4.07013e-28 4.40388e-28 0.840704 1 0 FKBP9 11328 broad.mit.edu 37 7 33044890 33044890 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:33044890G>A ENST00000242209.4 + 10 1809 c.1640G>A c.(1639-1641)cGg>cAg p.R547Q FKBP9_ENST00000490776.2_Missense_Mutation_p.R315Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.R600Q|FKBP9_ENST00000538443.1_Missense_Mutation_p.R409Q NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 547 EF-hand 2. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) AACCAGGACCGGAATGGAGAT 0.502000 15 78 0 0 0.592651 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754876 94754876 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:94754876C>G ENST00000554723.1 - 3 1277 c.859G>C c.(859-861)Gac>Cac p.D287H SERPINA10_ENST00000261994.4_Missense_Mutation_p.D247H|SERPINA10_ENST00000554173.1_Missense_Mutation_p.D247H|SERPINA10_ENST00000393096.1_Missense_Mutation_p.D247H Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 247 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) AAGACAGGGTCAAATGGGGTC 0.453000 25 83 0 0 0.717897 0 0 PTCH1 5727 broad.mit.edu 37 9 98229398 98229398 + Splice_Site SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:98229398C>T ENST00000430669.2 - 15 2947 c.2362G>A c.(2362-2364)Gga>Aga p.G788R PTCH1_ENST00000375274.2_Splice_Site_p.G853R|PTCH1_ENST00000421141.1_Splice_Site_p.G703R|PTCH1_ENST00000437951.1_Splice_Site_p.G788R|PTCH1_ENST00000418258.1_Splice_Site_p.G703R|PTCH1_ENST00000429896.2_Splice_Site_p.G703R|PTCH1_ENST00000331920.6_Splice_Site_p.G854R Q13635 PTC1_HUMAN patched 1 854 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.G854*(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GCCGTCTTACCCTGAAGCCAG 0.458000 5 33 0 0 0.184627 0 0 PIGG 54872 broad.mit.edu 37 4 499705 499705 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:499705G>C ENST00000453061.2 + 3 665 c.559G>C c.(559-561)Gat>Cat p.D187H PIGG_ENST00000296306.7_Missense_Mutation_p.D98H|PIGG_ENST00000503111.1_Missense_Mutation_p.D98H|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000536264.1_Missense_Mutation_p.D65H|PIGG_ENST00000509768.1_Missense_Mutation_p.D98H|PIGG_ENST00000504346.1_Missense_Mutation_p.D98H|PIGG_ENST00000310340.5_Missense_Mutation_p.D187H NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 187 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 TTTCGTGTCAGATTACACAGA 0.338000 5 29 0 0 0.184627 0 0 LRRK2 120892 broad.mit.edu 37 12 40637439 40637439 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:40637439G>A ENST00000298910.7 + 7 852 c.794G>A c.(793-795)aGa>aAa p.R265K LRRK2_ENST00000343742.2_Missense_Mutation_p.R265K NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 265 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATGAGTGAAAGAATTCAAGAA 0.353000 16 103 0 0 0.500413 0 0 CYP4F2 8529 broad.mit.edu 37 19 16001219 16001219 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:16001219C>G ENST00000221700.6 - 6 645 c.550G>C c.(550-552)Gag>Cag p.E184Q CYP4F2_ENST00000011989.7_Missense_Mutation_p.E35Q NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GCACTACCCTCTGAGGCCAGG 0.542000 19 75 0 0 0.639603 0 0 KIF17 57576 broad.mit.edu 37 1 21014070 21014070 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:21014070C>G ENST00000247986.2 - 8 2059 c.1749G>C c.(1747-1749)caG>caC p.Q583H KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.Q483H|KIF17_ENST00000400463.3_Missense_Mutation_p.Q583H Q9P2E2 KIF17_HUMAN kinesin family member 17 583 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CAGCGGCCTCCTGCCCGAGGC 0.652000 6 19 0 0 0.307466 0 0 TNKS 8658 broad.mit.edu 37 8 9413865 9413865 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:9413865C>T ENST00000310430.6 + 1 442 c.416C>T c.(415-417)tCa>tTa p.S139L RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000522110.1_Missense_Mutation_p.S139L|TNKS_ENST00000520408.1_Missense_Mutation_p.S139L NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 139 Poly-Ser. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) ACTTCTTCCTCATCTTCCTCT 0.632000 50 86 0 0 0.870114 0 0 CCL1 6346 broad.mit.edu 37 17 32688819 32688819 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:32688819G>C ENST00000225842.3 - 2 242 c.173C>G c.(172-174)tCc>tGc p.S58C NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 58 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) GCCCTCATTGGAGCAGATGGA 0.483000 OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 128 0 0 0.870114 0 0 SRP72 6731 broad.mit.edu 37 4 57367868 57367868 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:57367868G>C ENST00000342756.5 + 19 2578 c.1857G>C c.(1855-1857)gtG>gtC p.V619V SRP72_ENST00000510663.1_Silent_p.V558V NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 619 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) GTAAAACTGTGAGCAGCCCAC 0.453000 5 36 0 0 0.184627 0 0 DNAI2 64446 broad.mit.edu 37 17 72281227 72281227 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:72281227G>C ENST00000579490.1 + 2 538 c.403G>C c.(403-405)Gag>Cag p.E135Q DNAI2_ENST00000582036.1_Missense_Mutation_p.E78Q|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000311014.6_Missense_Mutation_p.E78Q|DNAI2_ENST00000446837.2_Missense_Mutation_p.E78Q Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 78 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TAACCATGTCGAGGGGGGCTG 0.562000 Kartagener syndrome 5 68 0 0 0.278610 0 0 ELOVL5 60481 broad.mit.edu 37 6 53138102 53138102 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:53138102G>A ENST00000542638.1 - 6 984 c.537C>T c.(535-537)ctC>ctT p.L179L ELOVL5_ENST00000304434.6_Silent_p.L179L|ELOVL5_ENST00000541407.1_Silent_p.L206L|ELOVL5_ENST00000370918.4_Silent_p.L169L Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 179 YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) AAGAGTACATGAGGACGTGGA 0.473000 50 101 0 0 0.870114 0 0 HIRIP3 8479 broad.mit.edu 37 16 30005479 30005479 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:30005479C>T ENST00000279392.3 - 4 1817 c.987G>A c.(985-987)ttG>ttA p.L329L HIRIP3_ENST00000564026.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 329 chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 TGCTTCCACTCAACCTCTTCC 0.572000 27 80 0 0 0.740014 0 0 GAREM 64762 broad.mit.edu 37 18 30050350 30050350 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:30050350C>T ENST00000399218.4 - 1 97 c.42G>A c.(40-42)gtG>gtA p.V14V GAREM_ENST00000269209.6_Silent_p.V14V NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 AGCTCCACTTCACATCCTTGA 0.731000 6 33 0 0 0.335167 0 0 EPHB2 2048 broad.mit.edu 37 1 23107946 23107946 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:23107946G>A ENST00000400191.3 + 2 112 c.94G>A c.(94-96)Gag>Aag p.E32K EPHB2_ENST00000374630.3_Missense_Mutation_p.E32K|EPHB2_ENST00000374627.1_Missense_Mutation_p.E26K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E32K|EPHB2_ENST00000544305.1_Missense_Mutation_p.E32K NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 32 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AGCGACTGCTGAGCTGGGCTG 0.602000 24 44 0 0 0.729181 0 0 PDCL3 79031 broad.mit.edu 37 2 101188178 101188178 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:101188178G>A ENST00000264254.6 + 5 873 c.495G>A c.(493-495)acG>acA p.T165T NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 165 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 ATCTGCCCACGATATTTGTTT 0.458000 34 236 0 0 0.804634 0 0 MYH7 4625 broad.mit.edu 37 14 23886487 23886487 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:23886487G>A ENST00000355349.3 - 32 4556 c.4394C>T c.(4393-4395)tCg>tTg p.S1465L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1465 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCCAGCTCCGACTGCGACTC 0.602000 23 64 0 0 0.654019 0 0 POLDIP3 84271 broad.mit.edu 37 22 42998059 42998059 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:42998059G>A ENST00000252115.5 - 3 558 c.454C>T c.(454-456)Cca>Tca p.P152S POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_5'UTR NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 152 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 TTCTGCTGTGGAACCTGGAAA 0.507000 44 71 0 0 0.870114 0 0 TMC1 117531 broad.mit.edu 37 9 75366836 75366836 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:75366836C>T ENST00000297784.5 + 11 1146 c.606C>T c.(604-606)ctC>ctT p.L202L TMC1_ENST00000396237.3_Silent_p.L202L|TMC1_ENST00000340019.3_Silent_p.L202L NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 202 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 ATATGGTTCTCTTTATCCTGA 0.373000 59 82 0 0 0.870114 0 0 LRRC31 79782 broad.mit.edu 37 3 169557820 169557820 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:169557820C>G ENST00000316428.5 - 9 1666 c.1609G>C c.(1609-1611)Gac>Cac p.D537H LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.D481H NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 537 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTATCTTGGTCAAAGCATTCT 0.403000 20 51 0 0 0.608945 0 0 TCHH 7062 broad.mit.edu 37 1 152080083 152080083 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:152080083C>G ENST00000368804.1 - 2 5609 c.5610G>C c.(5608-5610)caG>caC p.Q1870H NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1870 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCGACGTTTCTGCTCCTCTT 0.582000 34 75 0 0 0.788014 0 0 SLC9A8 23315 broad.mit.edu 37 20 48500483 48500483 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:48500483C>T ENST00000417961.1 + 14 1629 c.1419C>T c.(1417-1419)ctC>ctT p.L473L SLC9A8_ENST00000361573.2_Silent_p.L457L|SLC9A8_ENST00000539601.1_Silent_p.L238L|SLC9A8_ENST00000541138.1_Silent_p.L157L NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 457 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TCATCGTGCTCTTCACCATCC 0.632000 26 120 0 0 0.706142 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174615 150174615 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:150174615C>T ENST00000307271.3 + 5 2319 c.1745C>T c.(1744-1746)tCa>tTa p.S582L NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 582 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ATGAAGAACTCAGATAACAAA 0.483000 27 85 0 0 0.740014 0 0 OR6C3 254786 broad.mit.edu 37 12 55725670 55725670 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:55725670C>T ENST00000379667.1 + 1 186 c.186C>T c.(184-186)aaC>aaT p.N62N NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TCCTCCGGAACTTCTCTTTCT 0.403000 21 91 0 0 0.624587 0 0 ZNF738 148203 broad.mit.edu 37 19 21558079 21558079 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:21558079C>G ENST00000311015.3 + 3 347 c.136C>G c.(136-138)Cag>Gag p.Q46E ZNF738_ENST00000380870.4_Missense_Mutation_p.Q46E|ZNF738_ENST00000597810.1_Missense_Mutation_p.Q46E kidney(1)|lung(1) 2 AGAATTCTCTCAGGAGGAGTG 0.428000 31 82 0 0 0.812448 0 0 KCNG4 93107 broad.mit.edu 37 16 84256463 84256463 + Missense_Mutation SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:84256463T>C ENST00000308251.4 - 3 988 c.920A>G c.(919-921)tAc>tGc p.Y307C NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 307 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CAGCGACACGTAGTATGGGGA 0.637000 4 15 0 0 0.184627 0 0 SFTPA1 653509 broad.mit.edu 37 10 81373716 81373716 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:81373716C>T ENST00000398636.3 + 6 732 c.594C>T c.(592-594)ttC>ttT p.F198F SFTPA1_ENST00000419470.2_Silent_p.F213F|SFTPA1_ENST00000428376.2_Silent_p.F198F|SFTPA1_ENST00000372313.5_Silent_p.F139F|SFTPA1_ENST00000372308.3_Silent_p.F198F NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 198 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CTGGAGACTTCCGCTACTCAG 0.547000 82 94 0 0 0.870114 0 0 ERBB3 2065 broad.mit.edu 37 12 56480410 56480410 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:56480410G>A ENST00000267101.3 + 4 957 c.517G>A c.(517-519)Gag>Aag p.E173K ERBB3_ENST00000415288.2_Missense_Mutation_p.E114K|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 173 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CCGAGATGCTGAGATAGTGGT 0.493000 44 102 0 0 0.870114 0 0 IGDCC4 57722 broad.mit.edu 37 15 65681731 65681731 + Silent SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:65681731G>T ENST00000352385.2 - 14 2636 c.2427C>A c.(2425-2427)ctC>ctA p.L809L NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 809 Fibronectin type-III 4. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 AGCCGCCAATGAGGATGTCTT 0.562000 7 51 0.000274275 0.000282634 0.307466 1 0 COL4A2 1284 broad.mit.edu 37 13 111155524 111155524 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr13:111155524G>T ENST00000360467.5 + 42 4240 c.3934G>T c.(3934-3936)Gac>Tac p.D1312Y COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1312 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AAGCAAAGGTGACACAGGGAA 0.622000 6 44 0.248553 0.250404 0.248553 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 67 0 0 0.115264 0 0 COL13A1 1305 broad.mit.edu 37 10 71716780 71716780 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:71716780C>G ENST00000356340.3 + 38 2669 c.2133C>G c.(2131-2133)gtC>gtG p.V711V COL13A1_ENST00000398969.3_Silent_p.V639V|COL13A1_ENST00000398971.3_Silent_p.V696V|COL13A1_ENST00000398972.3_Silent_p.V697V|COL13A1_ENST00000520267.1_Silent_p.V639V|COL13A1_ENST00000398978.3_Silent_p.V711V|COL13A1_ENST00000398966.3_Silent_p.V689V|COL13A1_ENST00000398974.3_Silent_p.V699V|COL13A1_ENST00000354547.3_Silent_p.V689V|COL13A1_ENST00000520133.1_Silent_p.V604V|COL13A1_ENST00000398968.3_Silent_p.V692V|COL13A1_ENST00000522165.1_Silent_p.V680V|COL13A1_ENST00000398964.3_Silent_p.V682V|COL13A1_ENST00000398973.3_Silent_p.V685V|COL13A1_ENST00000357811.3_Silent_p.V677V|COL13A1_ENST00000517713.1_Silent_p.V662V Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 0 Nonhelical region 4 (NC4). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GCTTACCAGTCCAAGGCTGCT 0.552000 22 38 0 0 0.717897 0 0 SCP2 6342 broad.mit.edu 37 1 53416446 53416446 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:53416446G>C ENST00000371514.3 + 4 387 c.219G>C c.(217-219)caG>caC p.Q73H SCP2_ENST00000371509.4_Intron|SCP2_ENST00000528311.1_5'UTR|SCP2_ENST00000407246.2_Missense_Mutation_p.Q49H|SCP2_ENST00000371513.5_Intron NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 73 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 CCTGTGGGCAGAGGGCTATCT 0.378000 28 66 0 0 0.729181 0 0 TOR2A 27433 broad.mit.edu 37 9 130496590 130496590 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:130496590G>A ENST00000373281.5 - 2 428 c.405C>T c.(403-405)atC>atT p.I135I TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000373284.5_Silent_p.I135I|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000336067.6_Silent_p.I135I NM_130459.3 NP_569726.2 Q5JU69 TOR2A_HUMAN torsin family 2, member A 135 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity NS(1)|endometrium(2) 3 TGTAGCGCTCGATGTGGCTGG 0.642000 OREG0019509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 36 0 0 0.592651 0 0 PPL 5493 broad.mit.edu 37 16 4934737 4934737 + Nonsense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4934737C>A ENST00000345988.2 - 22 4008 c.3919G>T c.(3919-3921)Gag>Tag p.E1307* PPL_ENST00000590782.2_Nonsense_Mutation_p.E1305* NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1307 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GACGCCACCTCCTCCTTGGTT 0.537000 18 86 6.94344e-10 7.35108e-10 0.539581 1 0 OR52B4 143496 broad.mit.edu 37 11 4388659 4388659 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:4388659C>T ENST00000408920.2 - 1 957 c.867G>A c.(865-867)ctG>ctA p.L289L NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TAATGGGATTCAGCATAGGTG 0.418000 12 38 0 0 0.435327 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752620 62752620 + RNA SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:62752620G>T ENST00000331425.6 - 0 815 NR_003952.1 AGTAAGTGCTGAGGAGCGCCT 0.468000 6 51 7.48243e-07 7.81466e-07 0.335167 1 0 E2F3 1871 broad.mit.edu 37 6 20490417 20490417 + Nonsense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:20490417C>G ENST00000346618.3 + 7 1220 c.1154C>G c.(1153-1155)tCa>tGa p.S385* E2F3_ENST00000535432.1_Nonsense_Mutation_p.S254* NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 385 G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) TCAACCAACTCAGGACATAGC 0.398000 15 97 0 0 0.557998 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857613 101857613 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chrX:101857613G>A ENST00000604957.1 + 1 3166 c.544G>A c.(544-546)Gta>Ata p.V182I ARMCX5_ENST00000537008.1_Missense_Mutation_p.V182I|RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.V182I|ARMCX5_ENST00000372742.1_Missense_Mutation_p.V182I|ARMCX5_ENST00000536530.1_Missense_Mutation_p.V182I|ARMCX5_ENST00000541409.1_Missense_Mutation_p.V182I NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 182 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 AGAGCCTAGTGTAGGGTCCTG 0.488000 12 45 0 0 0.435327 0 0 RNF213 57674 broad.mit.edu 37 17 78237509 78237509 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:78237509C>A ENST00000582970.1 + 2 172 c.29C>A c.(28-30)tCc>tAc p.S10Y RNF213_ENST00000319921.4_Missense_Mutation_p.S10Y|RNF213_ENST00000456466.1_Missense_Mutation_p.S10Y|RNF213_ENST00000508628.2_Missense_Mutation_p.S10Y NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 10 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CAGCATGTCTCCAAGGAGGAA 0.622000 22 74 1.42536e-11 1.512e-11 0.681144 1 0 RAB3B 5865 broad.mit.edu 37 1 52442680 52442680 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:52442680G>T ENST00000371655.3 - 2 322 c.110C>A c.(109-111)tCc>tAc p.S37Y NM_002867.3 NP_002858.2 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 37 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 GAAGAGGAAGGAGGTCTTGCC 0.493000 22 90 1.96895e-08 2.06835e-08 0.639603 1 0 NECAB1 64168 broad.mit.edu 37 8 91962060 91962060 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:91962060G>C ENST00000417640.2 + 11 1223 c.886G>C c.(886-888)Gaa>Caa p.E296Q NECAB1_ENST00000521366.1_Missense_Mutation_p.E45Q|NECAB1_ENST00000522820.1_Missense_Mutation_p.E45Q NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 296 ABM. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) GCTTTCAAATGAATCTCGCTA 0.353000 4 13 0 0 0.150653 0 0 ARHGAP11B 89839 broad.mit.edu 37 15 30926523 30926523 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:30926523G>A ENST00000428041.2 + 4 593 c.448G>A c.(448-450)Gag>Aag p.E150K NM_001039841.1 NP_001034930.1 Q3KRB8 RHGBB_HUMAN Rho GTPase activating protein 11B 150 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 8 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) GTTAGGCACAGAGGAAAAGAA 0.413000 15 57 0 0 0.592651 0 0 DLL1 28514 broad.mit.edu 37 6 170592977 170592977 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:170592977C>T ENST00000366756.3 - 9 1723 c.1390G>A c.(1390-1392)Gac>Aac p.D464N NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 464 EGF-like 7; calcium-binding (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CAGGAGAAGTCGTTCACGCCA 0.697000 6 11 0 0 0.278610 0 0 SLC38A2 54407 broad.mit.edu 37 12 46761069 46761069 + Silent SNP C C T rs61761952 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:46761069C>T ENST00000256689.5 - 5 813 c.369G>A c.(367-369)ttG>ttA p.L123L SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 123 cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) TGGCAGTCTTCAAAAGGAGAT 0.338000 21 107 0 0 0.654019 0 0 WDR48 57599 broad.mit.edu 37 3 39135477 39135477 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:39135477G>A ENST00000302313.5 + 18 1886 c.1858G>A c.(1858-1860)Gaa>Aaa p.E620K WDR48_ENST00000418020.1_Missense_Mutation_p.E62K|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.E345K|WDR48_ENST00000396258.3_Missense_Mutation_p.E538K NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 620 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TTCTAATAATGAAAAACCAGG 0.383000 9 23 0 0 0.361761 0 0 C16orf72 29035 broad.mit.edu 37 16 9210534 9210534 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:9210534G>A ENST00000327827.7 + 4 990 c.593G>A c.(592-594)gGt>gAt p.G198D NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 198 endometrium(4)|large_intestine(2)|lung(2) 8 GGTCTTAGTGGTGCAATGGCT 0.428000 404 92 0 0 0.870114 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110534432 110534432 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:110534432G>C ENST00000378402.5 + 74 12153 c.12049G>C c.(12049-12051)Gaa>Caa p.E4017Q NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 4017 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCAGTTATCTGAACTCCAGGA 0.348000 HNSCC(38;0.096) 8 15 0 0 0.278610 0 0 CCR8 1237 broad.mit.edu 37 3 39374203 39374203 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:39374203G>A ENST00000326306.4 + 2 519 c.381G>A c.(379-381)atG>atA p.M127I CCR8_ENST00000545843.1_Missense_Mutation_p.M44I|CCR8_ENST00000414803.1_Missense_Mutation_p.E70K NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 127 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TCACCCTCATGAGTGTGGACA 0.512000 75 200 0 0 0.870114 0 0 EP400 57634 broad.mit.edu 37 12 132522554 132522554 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:132522554G>A ENST00000333577.4 + 33 6337 c.6228G>A c.(6226-6228)ccG>ccA p.P2076P EP400_ENST00000389561.2_Silent_p.P2040P|EP400_ENST00000332482.4_Silent_p.P2003P|EP400_ENST00000389562.2_Silent_p.P2039P|EP400_ENST00000330386.6_Silent_p.P1959P Q96L91 EP400_HUMAN E1A binding protein p400 2076 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTGGCTTCCCGGTCAAAGCTG 0.463000 49 82 0 0 0.870114 0 0 TDRD6 221400 broad.mit.edu 37 6 46660877 46660877 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:46660877G>A ENST00000544460.1 + 1 5266 c.5012G>A c.(5011-5013)aGa>aAa p.R1671K TDRD6_ENST00000316081.6_Missense_Mutation_p.R1671K NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1671 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) CTAGAAATCAGAAGGGATGTT 0.303000 11 38 0 0 0.411799 0 0 KIF13A 63971 broad.mit.edu 37 6 17850667 17850667 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:17850667C>T ENST00000378814.5 - 8 603 c.604G>A c.(604-606)Gag>Aag p.E202K KIF13A_ENST00000378843.2_Missense_Mutation_p.E202K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E202K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E202K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E202K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 202 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTATTTCCCTCAGACATCAAT 0.413000 6 8 0 0 0.217242 0 0 EDEM3 80267 broad.mit.edu 37 1 184680990 184680990 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:184680990C>T ENST00000318130.8 - 15 1824 c.1558G>A c.(1558-1560)Gat>Aat p.D520N EDEM3_ENST00000367512.3_Missense_Mutation_p.D477N NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 520 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TTACTGTCATCCAGTTCTGTA 0.323000 9 33 0 0 0.361761 0 0 CUL4A 8451 broad.mit.edu 37 13 113900284 113900284 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr13:113900284G>T ENST00000451881.1 + 15 1494 c.1245G>T c.(1243-1245)caG>caT p.Q415H CUL4A_ENST00000375441.3_Missense_Mutation_p.Q415H|CUL4A_ENST00000375440.4_Missense_Mutation_p.Q515H|CUL4A_ENST00000326335.4_Missense_Mutation_p.Q415H NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 515 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) TGCAGAATCAGAGTGACTCAG 0.383000 10 26 2.27111e-07 2.38114e-07 0.411799 1 0 ADCYAP1R1 117 broad.mit.edu 37 7 31121345 31121345 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:31121345G>A ENST00000304166.4 + 6 593 c.304G>A c.(304-306)Gac>Aac p.D102N ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.D102N|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.D102N NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 102 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TGATTTTGGTGACAGTAACTC 0.493000 33 138 0 0 0.827153 0 0 FRG1 2483 broad.mit.edu 37 4 190884260 190884260 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:190884260G>A ENST00000226798.4 + 9 975 c.753G>A c.(751-753)ttG>ttA p.L251L NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 251 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GAGCCAAATTGAAAGCCGACA 0.299000 8 29 0 0 0.335167 0 0 RNF216 54476 broad.mit.edu 37 7 5752476 5752476 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:5752476C>G ENST00000425013.2 - 12 1905 c.1681G>C c.(1681-1683)Gaa>Caa p.E561Q RNF216_ENST00000389902.3_Missense_Mutation_p.E618Q NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 561 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CAGCTGCCTTCCATGCAGCTG 0.443000 17 15 0 0 0.557998 0 0 WDR90 197335 broad.mit.edu 37 16 716290 716290 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:716290C>T ENST00000549091.1 + 37 4778 c.4686C>T c.(4684-4686)ttC>ttT p.F1562F WDR90_ENST00000315764.4_Silent_p.F159F|WDR90_ENST00000547944.1_Silent_p.F159F|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Silent_p.F1560F NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1560 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GGACAACCTTCCGTGTGCTGA 0.627000 13 44 0 0 0.500413 0 0 FCRL2 79368 broad.mit.edu 37 1 157745580 157745580 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:157745580C>T ENST00000361516.3 - 2 85 c.37G>A c.(37-39)Gtc>Atc p.V13I FCRL2_ENST00000392274.3_Missense_Mutation_p.V13I|FCRL2_ENST00000368181.4_Missense_Mutation_p.V13I NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 13 cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGTTCAGTGACTGCATCTGTG 0.428000 12 40 0 0 0.557998 0 0 S100PBP 64766 broad.mit.edu 37 1 33292214 33292214 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:33292214G>A ENST00000373475.5 + 3 768 c.514G>A c.(514-516)Gaa>Aaa p.E172K S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.E172K|S100PBP_ENST00000398243.3_Missense_Mutation_p.E172K NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 172 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CAAAGATACTGAAAAACTCTC 0.393000 12 46 0 0 0.592651 0 0 TRAK1 22906 broad.mit.edu 37 3 42242499 42242499 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:42242499C>A ENST00000327628.5 + 12 1780 c.1380C>A c.(1378-1380)gaC>gaA p.D460E TRAK1_ENST00000449246.1_Missense_Mutation_p.D386E|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.D402E|TRAK1_ENST00000396175.1_Missense_Mutation_p.D402E NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 460 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 TCGTCCTCGACAACAAGACCA 0.577000 29 86 3.00307e-07 3.14247e-07 0.729181 1 0 PPM1B 5495 broad.mit.edu 37 2 44428664 44428664 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:44428664G>A ENST00000378551.2 + 2 738 c.326G>A c.(325-327)gGa>gAa p.G109E PPM1B_ENST00000409895.4_Missense_Mutation_p.G109E|PPM1B_ENST00000409432.3_Missense_Mutation_p.G109E|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000282412.4_Missense_Mutation_p.G109E|PPM1B_ENST00000345249.4_Intron NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 109 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATCAGAACTGGATTTTTGAAA 0.403000 26 58 0 0 0.681144 0 0 THAP7 80764 broad.mit.edu 37 22 21354959 21354959 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:21354959G>T ENST00000215742.4 - 3 528 c.354C>A c.(352-354)agC>agA p.S118R THAP7_ENST00000399133.2_Missense_Mutation_p.S118R NM_030573.2 NP_085050.2 Q9BT49 THAP7_HUMAN THAP domain containing 7 118 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1) 8 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GTCTGAGCCGGCTGACTTCAG 0.612000 17 251 9.16793e-09 9.64951e-09 0.520397 1 0 EPB41 2035 broad.mit.edu 37 1 29319941 29319941 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:29319941C>G ENST00000343067.4 + 3 695 c.568C>G c.(568-570)Caa>Gaa p.Q190E EPB41_ENST00000373798.1_Missense_Mutation_p.Q190E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.Q190E|EPB41_ENST00000356093.2_Missense_Mutation_p.Q190E|EPB41_ENST00000373797.1_Missense_Mutation_p.Q190E|EPB41_ENST00000347529.3_Missense_Mutation_p.Q190E|EPB41_ENST00000349460.4_5'UTR NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 190 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AGAAAGCCCTCAATCAAAAGC 0.388000 26 62 0 0 0.706142 0 0 PRDM16 63976 broad.mit.edu 37 1 3331170 3331170 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:3331170G>C ENST00000378398.3 + 11 2732 c.2650G>C c.(2650-2652)Gag>Cag p.E884Q PRDM16_ENST00000378391.2_Missense_Mutation_p.E884Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.E883Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.E885Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.E884Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.E883Q|PRDM16_ENST00000270722.5_Missense_Mutation_p.E884Q Q9HAZ2 PRD16_HUMAN PR domain containing 16 884 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGCCCTGAAGGAGAAGTACCT 0.667000 T EVI1 """MDS, AML""" 4 27 0 0 0.184627 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701419 23701419 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:23701419C>T ENST00000397312.2 - 5 945 c.671G>A c.(670-672)aGa>aAa p.R224K ELAVL2_ENST00000380117.1_Missense_Mutation_p.R224K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R224K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R253K|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R224K NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 224 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TGGATACCTTCTGTTTGGAGA 0.488000 23 153 0 0 0.681144 0 0 GCKR 2646 broad.mit.edu 37 2 27729747 27729747 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:27729747G>C ENST00000264717.2 + 12 1124 c.1061G>C c.(1060-1062)gGt>gCt p.G354A GCKR_ENST00000424318.2_Missense_Mutation_p.G164A NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 354 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) CACACCTTTGGTGCTGGTGGG 0.552000 48 109 0 0 0.870114 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64507920 64507920 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:64507920A>G ENST00000498707.1 - 39 6077 c.5735T>C c.(5734-5736)gTa>gCa p.V1912A ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1884A|ADAMTS9_ENST00000467257.1_5'UTR NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1912 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GCATTTCCCTACGACTCGGGT 0.488000 23 84 0 0 0.706142 0 0 DNAH1 25981 broad.mit.edu 37 3 52429361 52429361 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:52429361C>G ENST00000420323.2 + 69 11267 c.11006C>G c.(11005-11007)tCc>tGc p.S3669C NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3734 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GACTCCAACTCCACCACACCC 0.567000 12 44 0 0 0.520397 0 0 HOXA3 3200 broad.mit.edu 37 7 27147998 27147998 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:27147998C>T ENST00000396352.4 - 3 1067 c.868G>A c.(868-870)Gag>Aag p.E290K HOXA3_ENST00000317201.2_Missense_Mutation_p.E290K|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 290 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 GACTGGGGCTCATACGGGACG 0.701000 7 57 0 0 0.307466 0 0 OPTN 10133 broad.mit.edu 37 10 13164440 13164440 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:13164440G>C ENST00000378748.3 + 9 1197 c.835G>C c.(835-837)Gag>Cag p.E279Q OPTN_ENST00000378764.2_Missense_Mutation_p.E273Q|OPTN_ENST00000378757.2_Missense_Mutation_p.E279Q|OPTN_ENST00000263036.5_Missense_Mutation_p.E279Q|OPTN_ENST00000378747.3_Missense_Mutation_p.E279Q|OPTN_ENST00000378752.3_Missense_Mutation_p.E273Q NM_001008211.1|NM_001008213.1 NP_001008212|NP_001008214 Q96CV9 OPTN_HUMAN optineurin 279 cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 AACCCAGACAGAGGGGAGCAC 0.433000 14 63 0 0 0.500413 0 0 LMAN1L 79748 broad.mit.edu 37 15 75112416 75112416 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:75112416C>T ENST00000309664.5 + 7 889 c.750C>T c.(748-750)ttC>ttT p.F250F LMAN1L_ENST00000379709.3_Intron NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 250 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCCTGACCTTCAGCCTGAGTG 0.612000 17 100 0 0 0.608945 0 0 ANK3 288 broad.mit.edu 37 10 61834597 61834597 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:61834597C>G ENST00000280772.2 - 37 6233 c.6042G>C c.(6040-6042)gaG>gaC p.E2014D ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTTGCACTCTCTCTGGCAGAG 0.438000 53 48 0 0 0.870114 0 0 NCOA1 8648 broad.mit.edu 37 2 24980905 24980905 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:24980905G>C ENST00000405141.1 + 22 4656 c.3945G>C c.(3943-3945)atG>atC p.M1315I NCOA1_ENST00000406961.1_Missense_Mutation_p.M1315I|NCOA1_ENST00000348332.3_Missense_Mutation_p.M1315I|NCOA1_ENST00000288599.5_Missense_Mutation_p.M1315I|NCOA1_ENST00000407230.1_Missense_Mutation_p.M1164I|NCOA1_ENST00000395856.3_Missense_Mutation_p.M1315I|NCOA1_ENST00000538539.1_Missense_Mutation_p.M1315I Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1315 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAACAACATGAGCATCACCG 0.473000 T PAX3 alveolar rhadomyosarcoma 20 55 0 0 0.557998 0 0 PRSS21 10942 broad.mit.edu 37 16 2871063 2871063 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:2871063G>A ENST00000455114.1 + 5 758 c.652G>A c.(652-654)Gac>Aac p.D218N PRSS21_ENST00000005995.3_Missense_Mutation_p.D220N|PRSS21_ENST00000450020.3_Missense_Mutation_p.D220N|PRSS21_ENST00000575739.1_Intron NM_001270452.1|NM_006799.3|NM_144956.2 NP_001257381.1|NP_006790.1|NP_659205.1 Q9Y6M0 TEST_HUMAN protease, serine, 21 (testisin) 220 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 15 CATCTTTGGAGACATGGTTTG 0.542000 54 206 0 0 0.870114 0 0 CTSL 1514 broad.mit.edu 37 9 90342571 90342571 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:90342571C>G ENST00000343150.5 + 2 943 c.53C>G c.(52-54)aCt>aGt p.T18S CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.T18S|CTSL_ENST00000342020.5_Missense_Mutation_p.T18S cathepsin L GCCTCAGCTACTCTAACATTT 0.428000 3 124 0 0 0.150653 0 0 ABCA1 19 broad.mit.edu 37 9 107554264 107554264 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:107554264G>A ENST00000374736.3 - 43 6167 c.5773C>T c.(5773-5775)Cgg>Tgg p.R1925W NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1925 ABC transporter 2. R -> Q (in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCAGGCTTCCGCTTCCTTCTA 0.438000 6 33 0 0 0.335167 0 0 RNF10 9921 broad.mit.edu 37 12 120995453 120995453 + Nonsense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:120995453G>A ENST00000325954.4 + 6 1396 c.935G>A c.(934-936)tGg>tAg p.W312* RNF10_ENST00000413266.2_Nonsense_Mutation_p.W312* NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 312 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAATCCAAATGGATGAATGTA 0.413000 21 93 0 0 0.639603 0 0 ZDHHC3 51304 broad.mit.edu 37 3 44968315 44968315 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:44968315C>T ENST00000296127.3 - 8 1123 c.850G>A c.(850-852)Gag>Aag p.E284K ZDHHC3_ENST00000342790.4_Missense_Mutation_p.E290K|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.E256K NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 284 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) CATCTTCTCTCTTCCTTTTTC 0.478000 9 52 0 0 0.361761 0 0 BTN1A1 696 broad.mit.edu 37 6 26508197 26508197 + Splice_Site SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:26508197C>T ENST00000244513.6 + 5 945 c.879C>T c.(877-879)ctC>ctT p.L293L NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 293 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TGGAAGAACTCAGTAAGTTCT 0.383000 17 91 0 0 0.624587 0 0 RECK 8434 broad.mit.edu 37 9 36118870 36118870 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:36118870C>T ENST00000377966.3 + 18 2936 c.2370C>T c.(2368-2370)gtC>gtT p.V790V NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 790 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GCCAGGCCGTCGGAGTCCTCT 0.602000 13 72 0 0 0.435327 0 0 HNMT 3176 broad.mit.edu 37 2 138738791 138738791 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:138738791C>G ENST00000329366.4 + 3 378 c.196C>G c.(196-198)Ctc>Gtc p.L66V HNMT_ENST00000410115.1_Intron|HNMT_ENST00000280097.3_Intron|HNMT_ENST00000485653.1_Intron NM_001024075.1 NP_001019246.1 P50135 HNMT_HUMAN histamine N-methyltransferase 0 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) TGCAGATTGTCTCATTCGGGG 0.458000 6 20 0 0 0.217242 0 0 TIAM1 7074 broad.mit.edu 37 21 32519223 32519223 + Silent SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:32519223G>T ENST00000286827.3 - 21 3936 c.3465C>A c.(3463-3465)gtC>gtA p.V1155V TIAM1_ENST00000541036.1_Silent_p.V1095V NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1155 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTTTCACCAGGACCTTGGGAA 0.527000 9 28 1.11149e-13 1.18369e-13 0.361761 1 0 RIMBP2 23504 broad.mit.edu 37 12 130919336 130919336 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:130919336G>A ENST00000261655.4 - 11 2308 c.2145C>T c.(2143-2145)ttC>ttT p.F715F RIMBP2_ENST00000536002.1_Silent_p.F623F|RIMBP2_ENST00000535703.1_Silent_p.F623F NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 715 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CCCTCCTCTTGAAGTCTGGAG 0.612000 7 67 0 0 0.278610 0 0 S100PBP 64766 broad.mit.edu 37 1 33292181 33292181 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:33292181G>C ENST00000373475.5 + 3 735 c.481G>C c.(481-483)Gat>Cat p.D161H S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.D161H|S100PBP_ENST00000398243.3_Missense_Mutation_p.D161H NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 161 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TGCTCTGCTTGATAAGGACGA 0.383000 11 51 0 0 0.557998 0 0 RBM10 8241 broad.mit.edu 37 X 47045024 47045024 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chrX:47045024C>G ENST00000377604.3 + 20 3092 c.2350C>G c.(2350-2352)Cac>Gac p.H784D RBM10_ENST00000345781.6_Missense_Mutation_p.H707D|RBM10_ENST00000329236.7_Missense_Mutation_p.H706D NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 784 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CTCAGGGCTCCACAAGGTAAC 0.612000 4 3 0 0 0.184627 0 0 NKTR 4820 broad.mit.edu 37 3 42679601 42679601 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:42679601G>C ENST00000232978.8 + 13 2593 c.2405G>C c.(2404-2406)aGa>aCa p.R802T RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 802 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) AGCGAGAGCAGATCATCTTTA 0.423000 36 84 0 0 0.804634 0 0 DDX11 1663 broad.mit.edu 37 12 31256888 31256888 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:31256888G>A ENST00000407793.2 + 27 3085 c.2834G>A c.(2833-2835)aGa>aAa p.R945K DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.R945K|DDX11_ENST00000251758.5_3'UTR NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 945 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CCCAGGAGGAGAGTGTGGAGT 0.602000 Multiple Myeloma(12;0.14) 4 6 0 0 0.150653 0 0 TSHR 7253 broad.mit.edu 37 14 81609785 81609785 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:81609785C>G ENST00000541158.2 + 11 1705 c.1383C>G c.(1381-1383)ttC>ttG p.F461L TSHR_ENST00000298171.2_Missense_Mutation_p.F461L|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 461 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TTGCGGATTTCTGCATGGGGA 0.542000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 31 86 0 0 0.779181 0 0 C21orf2 755 broad.mit.edu 37 21 45751736 45751736 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:45751736C>G ENST00000339818.4 - 5 742 c.535G>C c.(535-537)Gag>Cag p.E179Q AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000325223.7_Missense_Mutation_p.E179Q|C21orf2_ENST00000397956.3_Missense_Mutation_p.E179Q|C21orf2_ENST00000496321.1_5'UTR NM_001271440.1|NM_004928.2 NP_001258369.1|NP_004919.1 O43822 CU002_HUMAN chromosome 21 open reading frame 2 179 endometrium(2) 2 Colorectal(79;0.0806) GTTGCCTCCTCCTCGCTGTCC 0.692000 3 12 0 0 0.150653 0 0 MYO18A 399687 broad.mit.edu 37 17 27413464 27413464 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:27413464G>A ENST00000527372.1 - 39 6024 c.5844C>T c.(5842-5844)ctC>ctT p.L1948L TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000531253.1_Silent_p.L1948L|MYO18A_ENST00000533112.1_Silent_p.L1911L|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Silent_p.L1948L NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1948 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ACCTGTTGATGAGGTCCTCAT 0.562000 3 7 0 0 0.184627 0 0 PARD3B 117583 broad.mit.edu 37 2 206023598 206023598 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:206023598C>G ENST00000406610.2 + 11 1794 c.1587C>G c.(1585-1587)atC>atG p.I529M PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.I529M|PARD3B_ENST00000462231.1_Missense_Mutation_p.I529M|PARD3B_ENST00000351153.1_Missense_Mutation_p.I529M NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 529 PDZ 3. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGATTTTTATCAAATCCATCA 0.453000 8 51 0 0 0.500413 0 0 MBLAC1 255374 broad.mit.edu 37 7 99725743 99725743 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:99725743C>T ENST00000398075.2 + 2 1124 c.725C>T c.(724-726)tCg>tTg p.S242L NM_203397.1 NP_981942.1 A4D2B0 MBLC1_HUMAN metallo-beta-lactamase domain containing 1 242 hydrolase activity|metal ion binding p.S242L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1) 7 AGGGAAGCCTCGCAGCCCGAG 0.677000 3 10 0 0 0.150653 0 0 TTN 7273 broad.mit.edu 37 2 179395756 179395756 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:179395756C>T ENST00000589042.1 - 358 105810 c.105586G>A c.(105586-105588)Gag>Aag p.E35196K TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32628K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26256K|TTN_ENST00000460472.2_Missense_Mutation_p.E26131K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26323K|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33555K|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33555 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAATTGCCCTCATCGGAAGCC 0.478000 93 261 0 0 0.870114 0 0 MDH1 4190 broad.mit.edu 37 2 63824624 63824624 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:63824624G>C ENST00000233114.8 + 4 726 c.291G>C c.(289-291)gaG>gaC p.E97D MDH1_ENST00000539945.1_Missense_Mutation_p.E115D|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000544381.1_Missense_Mutation_p.E8D|MDH1_ENST00000409476.1_Intron|MDH1_ENST00000394423.1_Missense_Mutation_p.E97D NM_005917.3 NP_005908.1 P40925 MDHC_HUMAN malate dehydrogenase 1, NAD (soluble) 97 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4) 13 NADH(DB00157) AAGGCATGGAGAGAAAAGATT 0.443000 11 20 0 0 0.435327 0 0 PARD3B 117583 broad.mit.edu 37 2 206023538 206023538 + Silent SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:206023538C>A ENST00000406610.2 + 11 1734 c.1527C>A c.(1525-1527)ctC>ctA p.L509L PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Silent_p.L509L|PARD3B_ENST00000462231.1_Silent_p.L509L|PARD3B_ENST00000351153.1_Silent_p.L509L NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 509 PDZ 3. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CTGCTGGCCTCGGGGTGAGCT 0.488000 19 69 9.04412e-07 9.42749e-07 0.681144 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77328882 77328882 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:77328882G>C ENST00000282849.5 - 19 3362 c.2944C>G c.(2944-2946)Cag>Gag p.Q982E NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 982 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GCTTGGACCTGAGTGGGTGTG 0.542000 13 22 0 0 0.457914 0 0 PSMD1 5707 broad.mit.edu 37 2 231925981 231925981 + Splice_Site SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:231925981C>A ENST00000308696.6 + 2 179 c.17C>A c.(16-18)gCt>gAt p.A6D PSMD1_ENST00000409643.1_Splice_Site_p.A6D|PSMD1_ENST00000373635.4_Splice_Site_p.A6D NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 6 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TTTCTCATAGCTGGAATTATT 0.323000 10 50 0.0202918 0.0206739 0.457914 1 0 VILL 50853 broad.mit.edu 37 3 38042961 38042961 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:38042961G>A ENST00000283713.6 + 12 1463 c.1197G>A c.(1195-1197)caG>caA p.Q399Q VILL_ENST00000383759.2_Silent_p.Q399Q|VILL_ENST00000465644.1_Silent_p.Q117Q O15195 VILL_HUMAN villin-like 399 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GGTGCATCCAGGACTTACACA 0.602000 12 79 0 0 0.411799 0 0 KANK4 163782 broad.mit.edu 37 1 62728783 62728783 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:62728783C>T ENST00000371153.4 - 7 2898 c.2520G>A c.(2518-2520)gtG>gtA p.V840V KANK4_ENST00000354381.3_Silent_p.V212V|KANK4_ENST00000371150.1_Silent_p.V196V|KANK4_ENST00000317477.4_5'UTR NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 840 V -> A (in dbSNP:rs2666472). NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GCAGCAGCTTCACGATGGAGA 0.483000 5 24 0 0 0.361761 0 0 NDST4 64579 broad.mit.edu 37 4 115760536 115760536 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:115760536G>C ENST00000264363.2 - 11 2962 c.2284C>G c.(2284-2286)Cag>Gag p.Q762E NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 762 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GACATTACCTGAGAAGTAGCA 0.328000 29 63 0 0 0.750413 0 0 NUB1 51667 broad.mit.edu 37 7 151073831 151073831 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:151073831C>A ENST00000568733.1 + 14 1741 c.1675C>A c.(1675-1677)Ccc>Acc p.P559T NUB1_ENST00000413040.2_Missense_Mutation_p.P545T|NUB1_ENST00000566856.1_Missense_Mutation_p.P521T|WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000355851.4_Missense_Mutation_p.P535T Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 535 NEDD8-binding 2. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) AAGCCTGCCTCCCGAGCTGCC 0.627000 4 7 0.00909568 0.00930201 0.150653 1 0 INTS7 25896 broad.mit.edu 37 1 212190291 212190291 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:212190291G>A ENST00000366994.3 - 4 550 c.446C>T c.(445-447)tCa>tTa p.S149L INTS7_ENST00000366992.3_Missense_Mutation_p.S149L|INTS7_ENST00000366993.3_Missense_Mutation_p.S149L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.S100L NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 149 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) ATTATCATGTGAATCTAAACT 0.388000 31 71 0 0 0.769981 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45720793 45720793 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:45720793C>T ENST00000413988.1 - 8 852 c.812G>A c.(811-813)cGg>cAg p.R271Q EXOC3L2_ENST00000252482.3_Missense_Mutation_p.R271Q NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 271 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) GACCAGCCGCCGGAACAGCCT 0.701000 3 12 0 0 0.115264 0 0 BAI1 575 broad.mit.edu 37 8 143570748 143570748 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:143570748G>A ENST00000517894.1 + 16 3474 c.2580G>A c.(2578-2580)ccG>ccA p.P860P BAI1_ENST00000323289.5_Silent_p.P860P O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 860 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGAAACCCCCGCCTCGCTCCC 0.602000 32 144 0 0 0.804634 0 0 TMEM177 80775 broad.mit.edu 37 2 120439083 120439083 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:120439083C>T ENST00000424086.1 + 2 1127 c.654C>T c.(652-654)ttC>ttT p.F218F TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Silent_p.F218F|TMEM177_ENST00000401466.1_Silent_p.F218F NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 218 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) CCTACGCCTTCTCCCAGGATT 0.612000 13 50 0 0 0.479597 0 0 RSPRY1 89970 broad.mit.edu 37 16 57250818 57250818 + Nonsense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:57250818G>T ENST00000537866.1 + 8 1645 c.772G>T c.(772-774)Gaa>Taa p.E258* RSPRY1_ENST00000394420.4_Nonsense_Mutation_p.E258* Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 258 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 CCAAACAGGTGAAAATAAATT 0.378000 16 78 8.00594e-06 8.32926e-06 0.557998 1 0 MAN2A1 4124 broad.mit.edu 37 5 109191017 109191017 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:109191017G>C ENST00000261483.4 + 20 4205 c.3153G>C c.(3151-3153)ttG>ttC p.L1051F MAN2A1_ENST00000505313.1_3'UTR NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 1051 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TGGTTAATTTGAGAACAATAC 0.338000 14 24 0 0 0.520397 0 0 SMAD3 4088 broad.mit.edu 37 15 67457635 67457635 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:67457635G>A ENST00000327367.4 + 3 755 c.445G>A c.(445-447)Gag>Aag p.E149K SMAD3_ENST00000439724.3_Missense_Mutation_p.E105K|SMAD3_ENST00000540846.2_Missense_Mutation_p.E44K NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 149 Linker. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GATCCCGGCCGAGTTCCCCCC 0.602000 31 153 0 0 0.729181 0 0 RASD2 23551 broad.mit.edu 37 22 35947615 35947615 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:35947615C>T ENST00000216127.4 + 3 979 c.337C>T c.(337-339)Cag>Tag p.Q113* NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 113 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CAAGCGCCTTCAGAAGCAGAT 0.582000 26 42 0 0 0.681144 0 0 RARRES3 5920 broad.mit.edu 37 11 63312136 63312136 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:63312136G>A ENST00000439013.2 + 3 215 c.162G>A c.(160-162)ctG>ctA p.L54L RARRES3_ENST00000354445.2_Silent_p.L54L|RARRES3_ENST00000255688.3_Silent_p.L54L|RARRES3_ENST00000537871.1_3'UTR Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 54 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 TCTCAGTCCTGAGCAACAGTG 0.582000 32 162 0 0 0.769981 0 0 TLL2 7093 broad.mit.edu 37 10 98155023 98155023 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:98155023C>T ENST00000357947.3 - 13 1872 c.1647G>A c.(1645-1647)tcG>tcA p.S549S TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 549 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TGTTGGAGCTCGATTTCACAT 0.493000 18 40 0 0 0.870114 0 0 DTNB 1838 broad.mit.edu 37 2 25803620 25803620 + Missense_Mutation SNP G G A rs111695014 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:25803620G>A ENST00000406818.3 - 7 928 c.679C>T c.(679-681)Ctc>Ttc p.L227F DTNB_ENST00000496972.2_Missense_Mutation_p.L170F|DTNB_ENST00000405222.1_Missense_Mutation_p.L227F|DTNB_ENST00000407186.1_Missense_Mutation_p.L227F|DTNB_ENST00000404103.3_Missense_Mutation_p.L227F|DTNB_ENST00000545439.1_Missense_Mutation_p.L23F|DTNB_ENST00000407661.3_Missense_Mutation_p.L227F|DTNB_ENST00000407038.3_Missense_Mutation_p.L227F|DTNB_ENST00000288642.8_Missense_Mutation_p.L227F|DTNB_ENST00000472690.1_5'UTR NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 227 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGTGCATGAGAGGTAGCCAG 0.398000 29 72 0 0 0.779181 0 0 IGSF9B 22997 broad.mit.edu 37 11 133792552 133792552 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:133792552G>A ENST00000321016.8 - 16 2423 c.2193C>T c.(2191-2193)atC>atT p.I731I IGSF9B_ENST00000533871.2_Silent_p.I731I Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 731 integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCAAGAAGCAGATGGTAGCTA 0.607000 4 5 0 0 0.150653 0 0 GAB4 128954 broad.mit.edu 37 22 17447110 17447110 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:17447110G>A ENST00000400588.1 - 6 1275 c.1168C>T c.(1168-1170)Ctt>Ttt p.L390F NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 390 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) AAGCGAACAAGACATGAGCCC 0.607000 15 76 0 0 0.500413 0 0 SUPT20H 55578 broad.mit.edu 37 13 37583842 37583842 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr13:37583842C>A ENST00000350612.6 - 26 2527 c.2307G>T c.(2305-2307)atG>atT p.M769I SUPT20H_ENST00000356185.3_3'UTR|SUPT20H_ENST00000464744.1_3'UTR|SUPT20H_ENST00000475892.1_3'UTR|SUPT20H_ENST00000360252.4_3'UTR NM_001014286.2 NP_001014308.2 suppressor of Ty 20 homolog (S. cerevisiae) TGCCTCTCTTCATTTTACTTT 0.413000 12 109 0.0167234 0.0170705 0.435327 1 0 PARD3B 117583 broad.mit.edu 37 2 206023564 206023564 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:206023564C>G ENST00000406610.2 + 11 1760 c.1553C>G c.(1552-1554)tCc>tGc p.S518C PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.S518C|PARD3B_ENST00000462231.1_Missense_Mutation_p.S518C|PARD3B_ENST00000351153.1_Missense_Mutation_p.S518C NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 518 PDZ 3. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGGAACAAATCCAGAGAAACT 0.473000 13 60 0 0 0.575678 0 0 GJB3 2707 broad.mit.edu 37 1 35251005 35251005 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:35251005C>G ENST00000373366.2 + 2 1257 c.642C>G c.(640-642)gtC>gtG p.V214V GJB3_ENST00000373362.3_Silent_p.V214V|RP1-34M23.5_ENST00000542839.1_RNA NM_024009.2 NP_076872.1 O75712 CXB3_HUMAN gap junction protein, beta 3, 31kDa 214 cell communication connexon complex|integral to membrane gap junction channel activity p.V214>?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GCCACAGGGTCCTGCGAGGCC 0.622000 13 33 0 0 0.457914 0 0 HMGCS1 3157 broad.mit.edu 37 5 43298164 43298164 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:43298164A>G ENST00000325110.6 - 4 727 c.521T>C c.(520-522)gTt>gCt p.V174A HMGCS1_ENST00000433297.2_Missense_Mutation_p.V174A NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 174 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 TACTGCTCCAACTCCACCTGT 0.398000 24 95 0 0 0.717897 0 0 DBI 1622 broad.mit.edu 37 2 120128357 120128357 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:120128357G>A ENST00000542275.1 + 3 436 c.352G>A c.(352-354)Gat>Aat p.D118N DBI_ENST00000355857.3_Missense_Mutation_p.D57N|DBI_ENST00000311521.4_Missense_Mutation_p.D74N|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000409094.1_Missense_Mutation_p.D74N|DBI_ENST00000393103.2_Missense_Mutation_p.D58N|DBI_ENST00000535757.1_Missense_Mutation_p.D74N|DBI_ENST00000535617.1_Missense_Mutation_p.D99N NM_001178017.1 NP_001171488.1 P07108 ACBP_HUMAN diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) 57 transport benzodiazepine receptor binding|fatty-acyl-CoA binding kidney(1)|lung(4)|skin(1) 6 GGCCAAGTGGGATGCCTGGAA 0.428000 5 34 0 0 0.278610 0 0 GPATCH1 55094 broad.mit.edu 37 19 33608848 33608848 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:33608848G>A ENST00000170564.2 + 16 2628 c.2314G>A c.(2314-2316)Gag>Aag p.E772K NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 772 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) CTCCGAGGATGAGCAAGGTGA 0.552000 7 57 0 0 0.278610 0 0 CEP72 55722 broad.mit.edu 37 5 637673 637673 + Missense_Mutation SNP G G C rs150376362 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:637673G>C ENST00000264935.5 + 7 1036 c.946G>C c.(946-948)Gat>Cat p.D316H CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 316 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) TCAGAAGTTGGATTTGTCAGG 0.547000 20 55 0 0 0.608945 0 0 KLHL11 55175 broad.mit.edu 37 17 40021195 40021195 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:40021195C>T ENST00000319121.3 - 1 489 c.429G>A c.(427-429)tgG>tgA p.W143* NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 143 BTB. extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) GCTCGGAGCTCCACTTGCGCA 0.677000 23 40 0 0 0.693898 0 0 KALRN 8997 broad.mit.edu 37 3 124356151 124356151 + Splice_Site SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:124356151G>A ENST00000291478.5 + 4 733 c.e4+1 KALRN_ENST00000393496.1_Intron|KALRN_ENST00000360013.3_Splice_Site|KALRN_ENST00000459915.1_Splice_Site|KALRN_ENST00000428018.2_Intron NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AAACAAGCTGGTAAGTGGGGG 0.522000 8 66 0 0 0.361761 0 0 PRDM11 56981 broad.mit.edu 37 11 45245797 45245797 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:45245797G>C ENST00000263765.4 + 8 1123 c.874G>C c.(874-876)Gag>Cag p.E292Q PRDM11_ENST00000530656.1_Missense_Mutation_p.E292Q|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.E258Q|CTD-2560E9.3_ENST00000527450.1_RNA Q9NQV5 PRD11_HUMAN PR domain containing 11 292 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 GGAGAAGTCTGAGCAGGTTCT 0.502000 26 138 0 0 0.760397 0 0 PBRM1 55193 broad.mit.edu 37 3 52651349 52651349 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:52651349C>T ENST00000356770.4 - 13 1653 c.1651G>A c.(1651-1653)Gaa>Aaa p.E551K PBRM1_ENST00000409057.1_Missense_Mutation_p.E583K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E583K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E598K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E583K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E598K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E583K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E583K Q86U86 PB1_HUMAN polybromo 1 583 Bromo 4. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ATTCCCTCTTCACCAGCATAT 0.443000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 25 44 0 0 0.681144 0 0 BRI3BP 140707 broad.mit.edu 37 12 125509837 125509837 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:125509837G>A ENST00000341446.8 + 3 708 c.617G>A c.(616-618)cGa>cAa p.R206Q NM_080626.5 NP_542193.3 Q8WY22 BRI3B_HUMAN BRI3 binding protein 206 integral to membrane|mitochondrial outer membrane large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TTCTACTGGCGAAGCAGTCCC 0.632000 3 19 0 0 0.184627 0 0 ZC3H14 79882 broad.mit.edu 37 14 89038435 89038435 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:89038435G>C ENST00000251038.5 + 5 522 c.297G>C c.(295-297)aaG>aaC p.K99N ZC3H14_ENST00000359301.3_Missense_Mutation_p.K65N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.K99N|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000556945.1_Missense_Mutation_p.K99N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.K99N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.K65N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.K99N NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 99 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 CTTCAAACAAGAGCAATTTCA 0.413000 18 77 0 0 0.575678 0 0 MAN1B1 11253 broad.mit.edu 37 9 140002885 140002885 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:140002885C>G ENST00000371589.4 + 13 2015 c.1942C>G c.(1942-1944)Cag>Gag p.Q648E MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.Q351E NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 648 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CCAGGATCCTCAGAAGCCCGA 0.597000 10 85 0 0 0.387290 0 0 YOD1 55432 broad.mit.edu 37 1 207222498 207222498 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:207222498C>G ENST00000367084.1 - 4 986 c.782G>C c.(781-783)aGa>aCa p.R261T YOD1_ENST00000315927.4_Missense_Mutation_p.R305T|YOD1_ENST00000391927.1_Missense_Mutation_p.R261T NM_001276320.1 NP_001263249.1 Q5VVQ6 OTU1_HUMAN YOD1 deubiquitinase 305 OTU. cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination intracellular protein binding|ubiquitin-specific protease activity|zinc ion binding cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3) 11 Prostate(682;0.19) TCTCCTTCTTCTAGCTTCATC 0.443000 56 135 0 0 0.870114 0 0 DNAH5 1767 broad.mit.edu 37 5 13823435 13823435 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:13823435G>C ENST00000265104.4 - 40 6728 c.6624C>G c.(6622-6624)ctC>ctG p.L2208L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2208 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TATTTGGAAAGAGATCTTCAA 0.383000 Kartagener syndrome 10 122 0 0 0.387290 0 0 GTF2F1 2962 broad.mit.edu 37 19 6389529 6389529 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:6389529G>A ENST00000394456.5 - 4 716 c.252C>T c.(250-252)taC>taT p.Y84Y GTF2F1_ENST00000429701.2_Silent_p.Y56Y|CTB-180A7.6_ENST00000599584.1_RNA NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 84 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 GGACGATGCCGTACTTCTTCC 0.617000 5 207 0 0 0.184627 0 0 TDP2 51567 broad.mit.edu 37 6 24666972 24666972 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:24666972G>A ENST00000378198.4 - 1 289 c.119C>T c.(118-120)gCc>gTc p.A40V TDP2_ENST00000545995.1_Missense_Mutation_p.A70V O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 40 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 AGCCACTGCGGCATCGCAGCT 0.632000 Direct reversal of damage 5 242 0 0 0.248553 0 0 CDK15 65061 broad.mit.edu 37 2 202755540 202755540 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:202755540C>T ENST00000450471.2 + 13 1299 c.1213C>T c.(1213-1215)Cta>Tta p.L405L CDK15_ENST00000410091.3_Silent_p.L360L|CDK15_ENST00000374598.4_Silent_p.L411L|CDK15_ENST00000260967.2_Silent_p.L360L NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 411 ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) AGGAGTGAGGCTAAAGCCAGA 0.443000 22 42 0 0 0.750413 0 0 TTBK1 84630 broad.mit.edu 37 6 43251283 43251283 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:43251283G>A ENST00000259750.4 + 14 2888 c.2805G>A c.(2803-2805)gaG>gaA p.E935E NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 935 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) ACATTGCGGAGAAAACCCACC 0.632000 31 73 0 0 0.788014 0 0 ARNTL2 56938 broad.mit.edu 37 12 27521207 27521207 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:27521207G>C ENST00000544915.1 + 2 263 c.44G>C c.(43-45)aGa>aCa p.R15T ARNTL2_ENST00000311001.5_Missense_Mutation_p.R15T|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R26T|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R15T|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R26T|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R15T NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 15 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) AAAGTGTTGAGAGAGGAGAAC 0.413000 11 46 0 0 0.500413 0 0 C2orf78 388960 broad.mit.edu 37 2 74043174 74043174 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:74043174G>C ENST00000409561.1 + 3 1945 c.1824G>C c.(1822-1824)aaG>aaC p.K608N NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 608 Lys-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TGAAACGGAAGAAAAATCAAC 0.453000 15 33 0 0 0.557998 0 0 ZFAT 57623 broad.mit.edu 37 8 135524803 135524803 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:135524803G>C ENST00000520727.1 - 15 3539 c.3240C>G c.(3238-3240)ctC>ctG p.L1080L ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Silent_p.L1080L|ZFAT_ENST00000377838.3_Silent_p.L1092L|ZFAT_ENST00000520214.1_Silent_p.L1080L|ZFAT_ENST00000523399.1_Silent_p.L1030L NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 1092 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTGTGATGTGGAGATACTGGG 0.522000 35 103 0 0 0.812448 0 0 EVPL 2125 broad.mit.edu 37 17 74015086 74015086 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:74015086C>T ENST00000301607.3 - 11 1446 c.1193G>A c.(1192-1194)cGa>cAa p.R398Q EVPL_ENST00000586740.1_Missense_Mutation_p.R398Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 398 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 ATCCCGGCTTCGCCGCTGCAG 0.672000 5 9 0 0 0.217242 0 0 SMG1 23049 broad.mit.edu 37 16 18853033 18853033 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:18853033C>T ENST00000446231.2 - 41 6962 c.6550G>A c.(6550-6552)Gaa>Aaa p.E2184K SMG1_ENST00000389467.3_Missense_Mutation_p.E2184K Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2184 PI3K/PI4K. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CGGGGTGTTTCTTGGCGATTA 0.413000 115 164 0 0 0.870114 0 0 RELT 84957 broad.mit.edu 37 11 73102216 73102216 + Silent SNP C C T rs146023545 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:73102216C>T ENST00000064780.2 + 5 576 c.315C>T c.(313-315)cgC>cgT p.R105R RELT_ENST00000393580.2_Silent_p.R105R NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 105 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 GGGTTCCCCGCGTTCCATGTC 0.587000 51 91 0 0 0.870114 0 0 FNDC7 163479 broad.mit.edu 37 1 109265152 109265152 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:109265152C>T ENST00000370017.3 + 5 1071 c.794C>T c.(793-795)tCa>tTa p.S265L FNDC7_ENST00000271311.2_Missense_Mutation_p.S266L NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 266 Fibronectin type-III 3. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TACTTGATTTCAGTTTTAGCA 0.453000 14 44 0 0 0.457914 0 0 MBD5 55777 broad.mit.edu 37 2 149248116 149248116 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:149248116G>C ENST00000407073.1 + 12 5213 c.4216G>C c.(4216-4218)Gaa>Caa p.E1406Q MBD5_ENST00000404807.1_Missense_Mutation_p.E1639Q NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1406 PWWP. chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATTAGTAAGAGAAGACGACGT 0.403000 10 33 0 0 0.361761 0 0 MYT1L 23040 broad.mit.edu 37 2 1842969 1842969 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:1842969C>T ENST00000399161.2 - 21 3779 c.3032G>A c.(3031-3033)gGa>gAa p.G1011E MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.G1009E|MYT1L_ENST00000407844.1_Missense_Mutation_p.G7E NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1011 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCCGTCGCATCCTGGCGTGGG 0.667000 9 39 0 0 0.411799 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85434370 85434370 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:85434370G>A ENST00000393217.2 + 3 296 c.235G>A c.(235-237)Gat>Aat p.D79N NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 79 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GGAAGATACTGATATTTTAAG 0.313000 9 54 0 0 0.411799 0 0 ATG13 9776 broad.mit.edu 37 11 46679081 46679081 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:46679081G>C ENST00000434074.1 + 9 1293 c.604G>C c.(604-606)Gag>Cag p.E202Q ATG13_ENST00000529655.1_Missense_Mutation_p.E202Q|ATG13_ENST00000530500.1_Missense_Mutation_p.E123Q|ATG13_ENST00000526508.1_Missense_Mutation_p.E202Q|ATG13_ENST00000451945.1_Missense_Mutation_p.E202Q|ATG13_ENST00000524625.1_Missense_Mutation_p.E202Q|ATG13_ENST00000312040.4_Missense_Mutation_p.E202Q|ATG13_ENST00000528494.1_Missense_Mutation_p.E202Q|ATG13_ENST00000359513.4_Missense_Mutation_p.E202Q NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 202 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 CAGGCAATTTGAGAGGACCCC 0.488000 21 58 0 0 0.624587 0 0 TERT 7015 broad.mit.edu 37 5 1268641 1268641 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:1268641C>T ENST00000310581.5 - 9 2633 c.2576G>A c.(2575-2577)cGg>cAg p.R859Q TERT_ENST00000508104.2_Silent_p.A798A|TERT_ENST00000334602.6_Missense_Mutation_p.R859Q|TERT_ENST00000296820.5_Silent_p.A798A NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 859 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCACCCGTCCCGCCGAATCCC 0.597000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 5 49 0 0 0.217242 0 0 VSIG10 54621 broad.mit.edu 37 12 118533368 118533368 + Nonsense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:118533368G>A ENST00000359236.5 - 2 607 c.331C>T c.(331-333)Cag>Tag p.Q111* VSIG10_ENST00000536905.1_5'UTR NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 111 Ig-like C2-type 1. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 TGGAACCACTGAGTCACATTC 0.592000 21 133 0 0 0.681144 0 0 ATP6V0E2 155066 broad.mit.edu 37 7 149576726 149576726 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:149576726C>A ENST00000421974.2 + 3 1553 c.602C>A c.(601-603)cCt>cAt p.P201H ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.P152H|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.P175H|ATP6V0E2_ENST00000425642.2_3'UTR NM_001100592.1 NP_001094062.1 Q8NHE4 VA0E2_HUMAN ATPase, H+ transporting V0 subunit e2 0 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00256) GGGTCTTTCCCTTTACAGACG 0.632000 5 15 0.0293803 0.0298774 0.248553 1 0 MED24 9862 broad.mit.edu 37 17 38178927 38178927 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:38178927G>C ENST00000394126.1 - 20 2896 c.2478C>G c.(2476-2478)ctC>ctG p.L826L MED24_ENST00000356271.3_Silent_p.L788L|MED24_ENST00000394127.2_Silent_p.L788L|MED24_ENST00000394128.2_Silent_p.L801L|MED24_ENST00000501516.3_Silent_p.L820L O75448 MED24_HUMAN mediator complex subunit 24 801 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) GGGGGTCCATGAGGCTGTGCC 0.617000 14 24 0 0 0.557998 0 0 CALCRL 10203 broad.mit.edu 37 2 188228182 188228182 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:188228182G>A ENST00000409998.1 - 10 1329 c.548C>T c.(547-549)tCa>tTa p.S183L CALCRL_ENST00000410068.1_Missense_Mutation_p.S183L|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.S183L|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 183 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) ACAAACAAATGAGAAGAACAG 0.368000 17 42 0 0 0.557998 0 0 UBN1 29855 broad.mit.edu 37 16 4927465 4927465 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4927465G>C ENST00000396658.4 + 16 4048 c.3345G>C c.(3343-3345)caG>caC p.Q1115H UBN1_ENST00000262376.6_Missense_Mutation_p.Q1115H|UBN1_ENST00000590769.1_Intron|UBN1_ENST00000545171.1_Intron NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 1115 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 ATATCCCGCAGAGTCTGCCAG 0.642000 27 140 0 0 0.706142 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58352451 58352451 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:58352451C>T ENST00000442832.4 + 3 643 c.409C>T c.(409-411)Cag>Tag p.Q137* CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Nonsense_Mutation_p.Q136*|ZNF587B_ENST00000594901.1_Nonsense_Mutation_p.Q137* NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 137 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding AAACTTTCATCAGCACCAGAA 0.478000 4 48 0 0 0.217242 0 0 SPRTN 83932 broad.mit.edu 37 1 231474322 231474322 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:231474322G>C ENST00000391858.4 + 1 1473 c.193G>C c.(193-195)Gag>Cag p.E65Q SPRTN_ENST00000008440.9_Missense_Mutation_p.E65Q|SPRTN_ENST00000295050.7_Missense_Mutation_p.E65Q SprT-like N-terminal domain GGAGGCCGTCGAGGTGAAGTG 0.617000 32 133 0 0 0.796494 0 0 MME 4311 broad.mit.edu 37 3 154855989 154855989 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:154855989G>C ENST00000460393.1 + 9 939 c.819G>C c.(817-819)atG>atC p.M273I MME_ENST00000462745.1_Missense_Mutation_p.M273I|MME_ENST00000360490.2_Missense_Mutation_p.M273I|MME_ENST00000493237.1_Missense_Mutation_p.M273I|MME_ENST00000492661.1_Missense_Mutation_p.M273I NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 273 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CTTTGGAAATGAATAAAGTTA 0.358000 14 73 0 0 0.435327 0 0 ADAM22 53616 broad.mit.edu 37 7 87563851 87563851 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:87563851G>A ENST00000398204.4 + 1 394 c.71G>A c.(70-72)cGc>cAc p.R24H ADAM22_ENST00000398201.4_Missense_Mutation_p.R24H|ADAM22_ENST00000398209.3_Missense_Mutation_p.R24H|ADAM22_ENST00000265727.7_Missense_Mutation_p.R24H|ADAM22_ENST00000315984.7_Missense_Mutation_p.R24H|ADAM22_ENST00000439864.1_Missense_Mutation_p.R24H NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 24 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CCTCCGGCGCGCTGCGGCCAG 0.647000 3 16 0 0 0.150653 0 0 ANKHD1 54882 broad.mit.edu 37 5 139905682 139905682 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:139905682A>G ENST00000297183.6 + 26 4718 c.4594A>G c.(4594-4596)Agg>Ggg p.R1532G ANKHD1_ENST00000360839.2_Missense_Mutation_p.R1532G|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1532G NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGAAAAAAAGGGCCAATGT 0.423000 3 104 0 0 0.115264 0 0 MFHAS1 9258 broad.mit.edu 37 8 8750149 8750149 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:8750149G>A ENST00000276282.6 - 1 1006 c.420C>T c.(418-420)ctC>ctT p.L140L NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 140 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GGCTGAGGTTGAGCTTCCGCA 0.692000 4 4 0 0 0.184627 0 0 GBP1 2633 broad.mit.edu 37 1 89520378 89520378 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:89520378G>A ENST00000370473.4 - 10 1871 c.1652C>T c.(1651-1653)gCt>gTt p.A551V GBP1_ENST00000484970.1_5'UTR NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 551 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) AAGTTTAAGAGCGAGGGTCCT 0.448000 39 100 0 0 0.819951 0 0 SPECC1L 23384 broad.mit.edu 37 22 24761541 24761541 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:24761541G>A ENST00000314328.9 + 13 3210 c.2925G>A c.(2923-2925)caG>caA p.Q975Q SPECC1L_ENST00000437398.1_Silent_p.Q975Q|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Silent_p.Q975Q NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 975 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 CGTCTCCACAGCTTTCCCTGT 0.512000 35 162 0 0 0.840704 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717298 222717298 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:222717298C>T ENST00000343410.6 - 2 613 c.555G>A c.(553-555)ctG>ctA p.L185L NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 185 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) AGTCGTTCCTCAGGACATTAG 0.612000 22 50 0 0 0.639603 0 0 PSMD2 5708 broad.mit.edu 37 3 184026528 184026528 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:184026528G>A ENST00000310118.4 + 21 3135 c.2577G>A c.(2575-2577)ccG>ccA p.P859P PSMD2_ENST00000435761.1_Silent_p.P700P|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.P729P NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 859 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) CTGGCAAGCCGAAGACTATCA 0.547000 OREG0015948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 53 0 0 0.827153 0 0 ZNF280B 140883 broad.mit.edu 37 22 22842526 22842526 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:22842526C>T ENST00000360412.2 - 4 1973 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K ZNF280B_ENST00000406426.1_Missense_Mutation_p.E400K NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TAGGGCATTTCGCCAGGCTTA 0.433000 42 236 0 0 0.864702 0 0 R3HDML 140902 broad.mit.edu 37 20 42969880 42969880 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:42969880C>T ENST00000217043.2 + 2 478 c.306C>T c.(304-306)acC>acT p.T102T NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 102 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CCTGGGCCACCCAGTGCATCT 0.587000 25 54 0 0 0.729181 0 0 LENG9 94059 broad.mit.edu 37 19 54973627 54973627 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:54973627C>T ENST00000333834.4 - 1 1267 c.1149G>A c.(1147-1149)ctG>ctA p.L383L NM_198988.1 NP_945339.2 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 383 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5) 11 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) GGGCCCGTCTCAGAGCTCCAA 0.657000 7 39 0 0 0.335167 0 0 PPL 5493 broad.mit.edu 37 16 4933975 4933975 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4933975G>A ENST00000345988.2 - 22 4770 c.4681C>T c.(4681-4683)Ctg>Ttg p.L1561L PPL_ENST00000590782.2_Silent_p.L1559L NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1561 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCTTCCCTCAGAAAGTCTAGT 0.552000 13 65 0 0 0.457914 0 0 ABCA13 154664 broad.mit.edu 37 7 48391850 48391850 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:48391850C>T ENST00000435803.1 + 31 10478 c.10454C>T c.(10453-10455)tCa>tTa p.S3485L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3485 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCCCATGTCTCATACACAATC 0.443000 35 144 0 0 0.840704 0 0 PRPF3 9129 broad.mit.edu 37 1 150307520 150307520 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:150307520G>C ENST00000324862.6 + 7 1008 c.843G>C c.(841-843)ctG>ctC p.L281L PRPF3_ENST00000414970.2_Silent_p.L232L|PRPF3_ENST00000543398.1_Silent_p.L146L|PRPF3_ENST00000467329.1_3'UTR NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 281 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) TGCCTACTCTGAAAGCCAATA 0.473000 9 28 0 0 0.411799 0 0 ALS2CR12 130540 broad.mit.edu 37 2 202163981 202163981 + Missense_Mutation SNP C C T rs150075649 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:202163981C>T ENST00000405148.2 - 12 1365 c.922G>A c.(922-924)Gag>Aag p.E308K ALS2CR12_ENST00000392257.3_Missense_Mutation_p.E308K|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.E308K|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.E308K NM_139163.2 NP_631902.2 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 308 regulation of GTPase activity protein binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2) 21 TTTCTCAGCTCTTCTAATTGC 0.368000 25 67 0 0 0.693898 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320827 79320827 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:79320827G>A ENST00000428286.1 - 8 6486 c.5286C>T c.(5284-5286)ctC>ctT p.L1762L PRUNE2_ENST00000376718.3_Silent_p.L2121L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2121 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TGCAAGCACTGAGGTGCTTCT 0.493000 55 80 0 0 0.870114 0 0 PMEL 6490 broad.mit.edu 37 12 56351375 56351375 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:56351375G>A ENST00000548747.1 - 6 1374 c.712C>T c.(712-714)Ctg>Ttg p.L238L PMEL_ENST00000548493.1_Silent_p.L238L|PMEL_ENST00000360714.4_Silent_p.L238L|PMEL_ENST00000449260.2_Silent_p.L238L|PMEL_ENST00000539511.1_Silent_p.L152L|PMEL_ENST00000552882.1_Silent_p.L238L|PMEL_ENST00000536427.1_Silent_p.L238L|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Silent_p.L152L P40967 PMEL_HUMAN premelanosome protein 238 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCAAAGGTCAGAGGCTGATTT 0.562000 38 114 0 0 0.859065 0 0 SEC23B 10483 broad.mit.edu 37 20 18508212 18508212 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:18508212C>G ENST00000336714.3 + 9 1498 c.1066C>G c.(1066-1068)Caa>Gaa p.Q356E SEC23B_ENST00000377475.3_Missense_Mutation_p.Q356E|SEC23B_ENST00000377465.1_Missense_Mutation_p.Q356E|SEC23B_ENST00000262544.2_Missense_Mutation_p.Q356E NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 356 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 TGCCCTTGATCAAACTGGACT 0.408000 74 297 0 0 0.870114 0 0 PRMT2 3275 broad.mit.edu 37 21 48071903 48071903 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:48071903C>T ENST00000334494.4 + 7 1007 c.840C>T c.(838-840)ccC>ccT p.P280P PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000397637.1_Intron|PRMT2_ENST00000355680.3_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000397638.2_Intron|PRMT2_ENST00000440086.1_Intron NM_001242865.1 NP_001229794.1 P55345 ANM2_HUMAN protein arginine methyltransferase 2 0 developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) TCTCCTGGCCCATCTTCCTAC 0.547000 5 35 0 0 0.184627 0 0 SOWAHC 65124 broad.mit.edu 37 2 110373639 110373639 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:110373639G>C ENST00000356454.3 + 1 1729 c.1573G>C c.(1573-1575)Ggg>Cgg p.G525R NM_023016.3 NP_075392.2 Q53LP3 ANR57_HUMAN sosondowah ankyrin repeat domain family member C 525 CAATGTATTTGGGTAAAAATT 0.448000 14 18 0 0 0.457914 0 0 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:7578534C>G ENST00000420246.2 - 5 528 c.396G>C c.(394-396)aaG>aaC p.K132N TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 132 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAAAACATCTTGTTGAGGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 24 0 0 0.592651 0 0 CATSPERD 257062 broad.mit.edu 37 19 5745953 5745953 + Silent SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:5745953C>A ENST00000381624.3 + 9 748 c.687C>A c.(685-687)ctC>ctA p.L229L CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 229 integral to membrane ATCACCCCCTCAACCGGAGTT 0.537000 83 147 3.16549e-35 3.43881e-35 0.870114 1 0 TSC22D1 8848 broad.mit.edu 37 13 45010654 45010654 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr13:45010654C>T ENST00000261489.2 - 1 327 c.111G>A c.(109-111)gtG>gtA p.V37V TSC22D1_ENST00000458659.2_Intron|TSC22D1_ENST00000501704.2_Intron NM_006022.3 NP_006013.1 Q15714 T22D1_HUMAN TSC22 domain family, member 1 832 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TATCAAGTCTCACAGAAGCGT 0.383000 54 71 0 0 0.870114 0 0 DTNBP1 84062 broad.mit.edu 37 6 15627595 15627595 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:15627595C>T ENST00000338950.5 - 5 439 c.334G>A c.(334-336)Gaa>Aaa p.E112K DTNBP1_ENST00000355917.3_Missense_Mutation_p.E112K|DTNBP1_ENST00000344537.5_Missense_Mutation_p.E112K NM_183040.2 NP_898861.1 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 112 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) GTCATGGATTCTAAGTCTGCG 0.453000 Hermansky-Pudlak syndrome 14 55 0 0 0.479597 0 0 GLI3 2737 broad.mit.edu 37 7 42007389 42007389 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:42007389C>T ENST00000395925.3 - 14 2320 c.2236G>A c.(2236-2238)Gaa>Aaa p.E746K GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 746 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ATTGGGGTTTCATCGATGGCA 0.532000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 25 114 0 0 0.693898 0 0 KIAA0100 9703 broad.mit.edu 37 17 26950907 26950907 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:26950907G>T ENST00000528896.2 - 26 4904 c.4830C>A c.(4828-4830)caC>caA p.H1610Q KIAA0100_ENST00000389003.3_Missense_Mutation_p.H1467Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.H1467Q NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1610 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AGGCTGGATGGTGCTGGCACT 0.522000 8 173 0.000274275 0.000282634 0.307466 1 0 KCNA5 3741 broad.mit.edu 37 12 5154121 5154121 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:5154121G>C ENST00000252321.3 + 1 1037 c.808G>C c.(808-810)Gag>Cag p.E270Q NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 270 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CTTCTGCTTGGAGACCCTGCC 0.657000 29 95 0 0 0.729181 0 0 DOK4 55715 broad.mit.edu 37 16 57508744 57508744 + Missense_Mutation SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:57508744T>C ENST00000566936.1 - 5 857 c.560A>G c.(559-561)tAt>tGt p.Y187C DOK4_ENST00000340099.4_Missense_Mutation_p.Y187C|DOK4_ENST00000569548.1_Missense_Mutation_p.Y187C Q8TEW6 DOK4_HUMAN docking protein 4 187 IRS-type PTB. insulin receptor binding kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 6 ATCCCGGCCATAGCGGCGCAG 0.612000 12 35 0 0 0.500413 0 0 FBXW7 55294 broad.mit.edu 37 4 153244235 153244235 + Nonsense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:153244235G>C ENST00000281708.4 - 12 3151 c.1922C>G c.(1921-1923)tCa>tGa p.S641* FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S561*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S641*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S523*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S465*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S641* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 641 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.?(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) TCCATCATCTGAGCTGGTAAT 0.428000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 10 72 0 0 0.335167 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21325679 21325679 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:21325679G>C ENST00000256958.2 + 3 276 c.180G>C c.(178-180)gaG>gaC p.E60D NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 60 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GGAGATTTGAGATATCCTCTT 0.313000 4 17 0 0 0.184627 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882210 228882210 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:228882210C>G ENST00000392056.3 - 7 3406 c.3360G>C c.(3358-3360)tcG>tcC p.S1120S SPHKAP_ENST00000344657.5_Silent_p.S1120S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1120 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCTCACAGCTCGACTGCTTGG 0.542000 7 24 0 0 0.278610 0 0 NDUFB6 4712 broad.mit.edu 37 9 32553939 32553939 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:32553939C>T ENST00000379847.3 - 4 423 c.322G>A c.(322-324)Gat>Aat p.D108N NDUFB6_ENST00000350021.2_Missense_Mutation_p.D93N|TOPORS-AS1_ENST00000458036.1_RNA|TOPORS-AS1_ENST00000425533.1_RNA NM_002493.4 NP_002484.1 O95139 NDUB6_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa 108 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 8 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00199) NADH(DB00157) AGAATTGTATCACCCTAGGAA 0.333000 48 64 0 0 0.870114 0 0 DNAH7 56171 broad.mit.edu 37 2 196673469 196673469 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:196673469G>C ENST00000312428.6 - 53 10120 c.10020C>G c.(10018-10020)ttC>ttG p.F3340L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3340 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GAATGGTTTTGAAGGCAGGCA 0.388000 38 94 0 0 0.870114 0 0 DNAH3 55567 broad.mit.edu 37 16 21082053 21082053 + Missense_Mutation SNP T T A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:21082053T>A ENST00000261383.3 - 22 3178 c.3179A>T c.(3178-3180)aAa>aTa p.K1060I DNAH3_ENST00000415178.1_Missense_Mutation_p.K1060I NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1060 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTCTATTGGTTTGATGAATGG 0.433000 24 148 0 0 0.654019 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716949 222716949 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:222716949C>G ENST00000343410.6 - 2 962 c.904G>C c.(904-906)Gaa>Caa p.E302Q NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 302 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CGGATCTTTTCTACCTTCTTC 0.468000 84 231 0 0 0.870114 0 0 WDR48 57599 broad.mit.edu 37 3 39135489 39135489 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:39135489G>A ENST00000302313.5 + 18 1898 c.1870G>A c.(1870-1872)Gaa>Aaa p.E624K WDR48_ENST00000418020.1_Missense_Mutation_p.E66K|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.E349K|WDR48_ENST00000396258.3_Missense_Mutation_p.E542K NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 624 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AAAACCAGGAGAACAGGAAAA 0.388000 9 25 0 0 0.335167 0 0 CRYZL1 9946 broad.mit.edu 37 21 34975814 34975814 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:34975814C>T ENST00000361534.2 - 8 572 c.433G>A c.(433-435)Gaa>Aaa p.E145K CRYZL1_ENST00000445393.1_Missense_Mutation_p.E83K|CRYZL1_ENST00000381554.3_Missense_Mutation_p.E121K|CRYZL1_ENST00000290244.5_Missense_Mutation_p.E106K|CRYZL1_ENST00000381540.3_Missense_Mutation_p.E121K|AP000304.12_ENST00000429238.1_Intron O95825 QORL1_HUMAN crystallin, zeta (quinone reductase)-like 1 121 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding lung(1)|prostate(1)|urinary_tract(1) 3 CCTGCTGCTTCCGTCCATGTG 0.443000 15 63 0 0 0.575678 0 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 4 88 0 0 0.248553 0 0 LYZL2 119180 broad.mit.edu 37 10 30901801 30901801 + Silent SNP C C T rs1054555 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:30901801C>T ENST00000375318.2 - 4 521 c.465G>A c.(463-465)gcG>gcA p.A155A NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 109 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) CACAGATAATCGCATCTGTGA 0.443000 8 89 0 0 0.500413 0 0 PVRL1 5818 broad.mit.edu 37 11 119545906 119545906 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:119545906G>A ENST00000264025.3 - 5 1496 c.966C>T c.(964-966)atC>atT p.I322I PVRL1_ENST00000341398.2_Silent_p.I322I|PVRL1_ENST00000340882.2_Silent_p.I322I NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 322 Ig-like C2-type 2. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) AGCGTGTACCGATGGGGTTGG 0.602000 11 28 0 0 0.387290 0 0 TESPA1 9840 broad.mit.edu 37 12 55356465 55356465 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:55356465G>A ENST00000524622.1 - 7 1464 c.803C>T c.(802-804)cCa>cTa p.P268L TESPA1_ENST00000532804.1_Missense_Mutation_p.P268L|TESPA1_ENST00000316577.8_Missense_Mutation_p.P406L|TESPA1_ENST00000449076.1_Missense_Mutation_p.P406L|TESPA1_ENST00000531122.1_Missense_Mutation_p.P268L NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 406 TATCTGAGCTGGGTCTGTGCT 0.507000 39 65 0 0 0.840704 0 0 SEC23B 10483 broad.mit.edu 37 20 18513307 18513307 + Splice_Site SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:18513307G>C ENST00000336714.3 + 11 1665 c.e11-1 SEC23B_ENST00000377475.3_Splice_Site|SEC23B_ENST00000377465.1_Splice_Site|SEC23B_ENST00000262544.2_Splice_Site NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding p.?(2) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 ATTTGTTATAGACCTCTCGGG 0.413000 18 57 0 0 0.608945 0 0 ABCA5 23461 broad.mit.edu 37 17 67273900 67273900 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:67273900G>C ENST00000392676.3 - 19 2540 c.2476C>G c.(2476-2478)Ctt>Gtt p.L826V ABCA5_ENST00000588877.1_Missense_Mutation_p.L826V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L826V Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 826 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) GTTTCAGAAAGAATAAGTAAG 0.363000 13 23 0 0 0.479597 0 0 NFKBIB 4793 broad.mit.edu 37 19 39399404 39399404 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:39399404C>T ENST00000313582.5 + 6 1037 c.1003C>T c.(1003-1005)Cgc>Tgc p.R335C NFKBIB_ENST00000392079.3_3'UTR NM_002503.4 NP_002494.2 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 335 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TCACAGCAGCCGCAGCCAAAC 0.567000 38 85 0 0 0.870114 0 0 THOC1 9984 broad.mit.edu 37 18 226868 226868 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:226868G>A ENST00000261600.6 - 12 959 c.952C>T c.(952-954)Cgt>Tgt p.R318C NM_005131.2 NP_005122.2 Q96FV9 THOC1_HUMAN THO complex 1 318 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) ATGTGTCGACGAAAGTTACTG 0.343000 13 8 0 0 0.539581 0 0 MFSD8 256471 broad.mit.edu 37 4 128851881 128851881 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:128851881C>T ENST00000296468.3 - 10 1082 c.955G>A c.(955-957)Gaa>Aaa p.E319K MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_3'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.E274K NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 319 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 ACAACGGCTTCAACCCCAAGA 0.318000 49 124 0 0 0.870114 0 0 SCTR 6344 broad.mit.edu 37 2 120204358 120204358 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:120204358C>G ENST00000019103.5 - 11 1384 c.1117G>C c.(1117-1119)Gaa>Caa p.E373Q NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 373 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) AGGGCTAGTTCAAAAAACAGC 0.547000 21 57 0 0 0.592651 0 0 HYDIN 54768 broad.mit.edu 37 16 70942755 70942755 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:70942755C>G ENST00000393567.2 - 48 8164 c.8014G>C c.(8014-8016)Gag>Cag p.E2672Q NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2672 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) CTGGTCTGCTCCTCTTGAGCC 0.423000 19 35 0 0 0.608945 0 0 ZDHHC14 79683 broad.mit.edu 37 6 157963684 157963684 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:157963684G>T ENST00000359775.5 + 2 1202 c.313G>T c.(313-315)Gtg>Ttg p.V105L ZDHHC14_ENST00000414563.2_Missense_Mutation_p.V105L Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 105 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GTTCTTCTTTGTGATGGGGAC 0.607000 25 50 7.53681e-25 8.13855e-25 0.706142 1 0 OR2T11 127077 broad.mit.edu 37 1 248790334 248790334 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:248790334G>C ENST00000330803.2 - 1 157 c.96C>G c.(94-96)ttC>ttG p.F32L NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) CGGCCCCCAAGAAAACAGCAA 0.498000 41 81 0 0 0.827153 0 0 BPIFB3 359710 broad.mit.edu 37 20 31647285 31647285 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:31647285C>G ENST00000375494.3 + 3 383 c.383C>G c.(382-384)tCt>tGt p.S128C NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 128 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ATGCATTGCTCTGGGTGAGTG 0.602000 3 7 0 0 0.115264 0 0 TULP4 56995 broad.mit.edu 37 6 158924831 158924831 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:158924831G>A ENST00000367097.3 + 13 5493 c.4136G>A c.(4135-4137)aGa>aAa p.R1379K TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1379 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CACCTGGGGAGAGAGAAGAAG 0.493000 15 15 0 0 0.500413 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55294990 55294990 + Splice_Site SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:55294990G>A ENST00000336077.6 + 7 910 c.870G>A c.(868-870)gaG>gaA p.E290E KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Splice_Site_p.E290E|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site_p.E316E|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 290 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CGAATAGCGAGGTAGGTACTC 0.532000 35 81 0 0 0.853193 0 0 VPS9D1 9605 broad.mit.edu 37 16 89777137 89777137 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:89777137C>G ENST00000561976.1 - 9 1282 c.905G>C c.(904-906)gGa>gCa p.G302A VPS9D1_ENST00000389386.3_Missense_Mutation_p.G372A VPS9 domain containing 1 GTCTGGCAATCCAGATGCGGT 0.726000 2 6 0 0 0.115264 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315235 73315235 + Missense_Mutation SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:73315235T>C ENST00000258098.6 - 3 1751 c.1511A>G c.(1510-1512)aAg>aGg p.K504R RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 504 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 ACTCTTGGCCTTTTCCTCCCC 0.592000 3 113 0 0 0.115264 0 0 DTNB 1838 broad.mit.edu 37 2 25803618 25803618 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:25803618G>A ENST00000406818.3 - 7 930 c.681C>T c.(679-681)ctC>ctT p.L227L DTNB_ENST00000496972.2_Silent_p.L170L|DTNB_ENST00000405222.1_Silent_p.L227L|DTNB_ENST00000407186.1_Silent_p.L227L|DTNB_ENST00000404103.3_Silent_p.L227L|DTNB_ENST00000545439.1_Silent_p.L23L|DTNB_ENST00000407661.3_Silent_p.L227L|DTNB_ENST00000407038.3_Silent_p.L227L|DTNB_ENST00000288642.8_Silent_p.L227L|DTNB_ENST00000472690.1_5'UTR NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 227 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCTGTGCATGAGAGGTAGCC 0.398000 28 72 0 0 0.760397 0 0 CYP3A4 1576 broad.mit.edu 37 7 99364768 99364768 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:99364768C>T ENST00000354593.2 - 3 437 c.334G>A c.(334-336)Gaa>Aaa p.E112K CYP3A4_ENST00000336411.2_Missense_Mutation_p.E262K P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 262 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TGTGTATCTTCGAGGCGACTT 0.308000 16 35 0 0 0.575678 0 0 PVRL4 81607 broad.mit.edu 37 1 161044087 161044087 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:161044087G>C ENST00000368012.3 - 6 1379 c.1077C>G c.(1075-1077)ctC>ctG p.L359L PVRL4_ENST00000453926.2_Silent_p.L93L NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 359 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGCAGAACAAGAGTGCGGCGA 0.602000 40 77 0 0 0.870114 0 0 NOTCH4 4855 broad.mit.edu 37 6 32164149 32164149 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:32164149G>A ENST00000375023.3 - 29 5388 c.5250C>T c.(5248-5250)gcC>gcT p.A1750A NOTCH4_ENST00000443903.2_Intron NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1750 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GAAGCGAGCGGGCGGCTCGGG 0.632000 36 93 0 0 0.870114 0 0 RYBP 23429 broad.mit.edu 37 3 72428484 72428484 + Nonstop_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:72428484C>G ENST00000477973.2 - 2 517 c.518G>C c.(517-519)tGa>tCa p.*173S NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein Interaction with E4TF1B. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) TCCTGCTTTTCAACTTTCTCC 0.418000 16 79 0 0 0.539581 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802674 185802674 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:185802674G>A ENST00000302277.6 + 4 3145 c.2551G>A c.(2551-2553)Gaa>Aaa p.E851K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 851 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GTTAATAAGTGAAGACAAAAA 0.348000 9 31 0 0 0.361761 0 0 KIAA1683 80726 broad.mit.edu 37 19 18376060 18376060 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:18376060C>T ENST00000392413.4 - 3 2505 c.2290G>A c.(2290-2292)Gat>Aat p.D764N KIAA1683_ENST00000600359.3_Missense_Mutation_p.D718N|KIAA1683_ENST00000600328.3_Missense_Mutation_p.D764N NM_001145304.1 NP_001138776.1 Q9H0B3 K1683_HUMAN KIAA1683 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTGCTGAGATCAGCAGCCTGG 0.657000 39 77 0 0 0.859065 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33807129 33807129 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:33807129G>A ENST00000260908.7 - 2 217 c.100C>T c.(100-102)Cta>Tta p.L34L SLFN12L_ENST00000449046.1_Silent_p.L65L|SLFN12L_ENST00000361112.4_Silent_p.L63L NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 66 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 CCCACATTTAGAACCAGCTCA 0.388000 9 30 0 0 0.335167 0 0 GCC2 9648 broad.mit.edu 37 2 109089346 109089346 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:109089346G>C ENST00000309863.6 + 7 3565 c.2851G>C c.(2851-2853)Gaa>Caa p.E951Q NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 951 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 AGAGTTGGAAGAAAAAATAGG 0.308000 9 22 0 0 0.307466 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29974704 29974704 + RNA SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:29974704G>A ENST00000376797.3 - 0 1346 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA CCGTGAGTCTGAGGATGAAGA 0.677000 3 25 0 0 0.184627 0 0 HMGB2 3148 broad.mit.edu 37 4 174254744 174254744 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:174254744G>A ENST00000296503.5 - 2 930 c.57C>T c.(55-57)ttC>ttT p.F19F HMGB2_ENST00000438704.2_Silent_p.F19F|HMGB2_ENST00000446922.2_Silent_p.F19F P26583 HMGB2_HUMAN high mobility group box 2 19 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.F19F(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) AGGTCTGCACGAAGAAGGCGT 0.582000 33 53 0 0 0.769981 0 0 ABCD3 5825 broad.mit.edu 37 1 94953306 94953306 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:94953306C>T ENST00000370214.4 + 12 1048 c.1024C>T c.(1024-1026)Cat>Tat p.H342Y ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.H269Y|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Missense_Mutation_p.H366Y NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 342 ABC transmembrane type-1. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) AGATTTGTCTCATCCTCGACA 0.358000 13 76 0 0 0.717897 0 0 ACBD7 414149 broad.mit.edu 37 10 15120550 15120550 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:15120550C>G ENST00000356189.5 - 4 293 c.246G>C c.(244-246)ctG>ctC p.L82L ACBD7_ENST00000496890.1_5'UTR NM_001039844.2 NP_001034933.1 Q8N6N7 ACBD7_HUMAN acyl-CoA binding domain containing 7 82 ACB. fatty-acyl-CoA binding endometrium(1)|lung(4)|prostate(1) 6 ATTTTTCTATCAGCTCCTTTG 0.398000 21 93 0 0 0.693898 0 0 EPB41L1 2036 broad.mit.edu 37 20 34797558 34797558 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:34797558C>G ENST00000338074.2 + 15 1978 c.1817C>G c.(1816-1818)tCc>tGc p.S606C EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Missense_Mutation_p.S497C|EPB41L1_ENST00000373941.1_Missense_Mutation_p.S606C|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000441639.1_Missense_Mutation_p.S532C|EPB41L1_ENST00000202028.5_Missense_Mutation_p.S532C NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 606 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CGCAAGTGCTCCAGCATCACG 0.612000 17 42 0 0 0.539581 0 0 GALNT6 11226 broad.mit.edu 37 12 51759227 51759227 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:51759227G>A ENST00000543196.2 - 4 1006 c.801C>T c.(799-801)ttC>ttT p.F267F GALNT6_ENST00000356317.3_Silent_p.F267F Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 267 Catalytic subdomain A. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GGGCATCCAGGAACGTGAGCA 0.687000 4 51 0 0 0.184627 0 0 PURB 5814 broad.mit.edu 37 7 44924792 44924792 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:44924792C>G ENST00000395699.2 - 1 168 c.156G>C c.(154-156)caG>caC p.Q52H RP4-673M15.1_ENST00000608450.1_RNA NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 52 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 CCTTGGCGTTCTGCTTCACAT 0.672000 5 26 0 0 0.184627 0 0 ATP2B4 493 broad.mit.edu 37 1 203696675 203696675 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:203696675G>A ENST00000357681.5 + 20 4408 c.3285G>A c.(3283-3285)cgG>cgA p.R1095R ATP2B4_ENST00000367218.3_Silent_p.R1095R|ATP2B4_ENST00000367219.3_Silent_p.R1083R|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000391954.2_Silent_p.R1059R|ATP2B4_ENST00000341360.2_Silent_p.R1095R NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 1095 Calmodulin-binding subdomain A. ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCTGGTTCCGGGGCCTGAACC 0.562000 39 69 0 0 0.870114 0 0 TCP11L2 255394 broad.mit.edu 37 12 106740204 106740204 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:106740204C>T ENST00000299045.3 + 10 1630 c.1456C>T c.(1456-1458)Ctc>Ttc p.L486F NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 486 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 CATTGTGAATCTCAACAAACA 0.453000 7 36 0 0 0.278610 0 0 HHIPL2 79802 broad.mit.edu 37 1 222715388 222715388 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:222715388C>G ENST00000343410.6 - 3 1142 c.1084G>C c.(1084-1086)Gat>Cat p.D362H NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 362 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CCAAAGGGATCTCCAGCCTGT 0.532000 19 57 0 0 0.575678 0 0 ABCC1 4363 broad.mit.edu 37 16 16138333 16138333 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:16138333C>T ENST00000399408.2 + 8 1011 c.836C>T c.(835-837)tCc>tTc p.S279F ABCC1_ENST00000345148.5_Missense_Mutation_p.S279F|ABCC1_ENST00000351154.5_Missense_Mutation_p.S279F|ABCC1_ENST00000346370.5_Missense_Mutation_p.S279F|ABCC1_ENST00000349029.5_Missense_Mutation_p.S279F|ABCC1_ENST00000399410.3_Missense_Mutation_p.S279F P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 279 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTGTACTCCTCCAAGGATCCT 0.587000 10 49 0 0 0.387290 0 0 CADM2 253559 broad.mit.edu 37 3 86010672 86010672 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:86010672G>A ENST00000383699.3 + 8 1472 c.845G>A c.(844-846)cGa>cAa p.R282Q CADM2_ENST00000405615.2_Missense_Mutation_p.R275Q|CADM2_ENST00000407528.2_Missense_Mutation_p.R273Q NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 273 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GATCCTGACCGAATGGTTGTG 0.413000 44 149 0 0 0.870114 0 0 FEZF2 55079 broad.mit.edu 37 3 62355901 62355901 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:62355901C>G ENST00000283268.3 - 5 1531 c.1237G>C c.(1237-1239)Gac>Cac p.D413H FEZF2_ENST00000486811.1_Missense_Mutation_p.D413H|FEZF2_ENST00000475839.1_Missense_Mutation_p.D413H NM_018008.3 NP_060478.3 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 413 transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) GGCTTCTTGTCGTTGTGGGTG 0.522000 36 131 0 0 0.827153 0 0 FAT3 120114 broad.mit.edu 37 11 92534006 92534006 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:92534006C>T ENST00000298047.6 + 9 7844 c.7827C>T c.(7825-7827)gtC>gtT p.V2609V FAT3_ENST00000525166.1_Silent_p.V2459V|FAT3_ENST00000409404.2_Silent_p.V2609V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2609 Cadherin 24. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAGCCAGTGTCAGGGCAGATG 0.468000 TCGA Ovarian(4;0.039) 10 10 0 0 0.435327 0 0 TRPM6 140803 broad.mit.edu 37 9 77397292 77397292 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:77397292C>G ENST00000451710.3 - 23 3432 c.3195G>C c.(3193-3195)ttG>ttC p.L1065F TRPM6_ENST00000376864.4_Missense_Mutation_p.L1065F|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1065F|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1060F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1060F|TRPM6_ENST00000376871.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1065 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AGAAAGCAATCAACAGGTTCA 0.363000 26 42 0 0 0.729181 0 0 FBXO28 23219 broad.mit.edu 37 1 224321837 224321837 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:224321837G>C ENST00000366862.5 + 3 482 c.439G>C c.(439-441)Gaa>Caa p.E147Q FBXO28_ENST00000424254.2_Missense_Mutation_p.E147Q NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 147 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) TGCTGCTGTTGAAACAAGGCT 0.358000 9 25 0 0 0.307466 0 0 OR5A2 219981 broad.mit.edu 37 11 59190322 59190322 + Silent SNP G G C rs142339235 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:59190322G>C ENST00000302040.4 - 1 127 c.105C>G c.(103-105)ctC>ctG p.L35L NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 TCAGGAGGTAGAGCCCCAGAA 0.448000 9 39 0 0 0.307466 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325458 47325458 + RNA SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:47325458C>T ENST00000505841.1 - 0 1071 NR_002788.2 CTCAGGTGTTCCCTGGGTACA 0.488000 15 84 0 0 0.575678 0 0 LYST 1130 broad.mit.edu 37 1 235894422 235894422 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:235894422C>T ENST00000389794.3 - 35 9031 c.8857G>A c.(8857-8859)Gaa>Aaa p.E2953K LYST_ENST00000389793.2_Missense_Mutation_p.E2953K|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 2953 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTTGGCCCTTCTGTTGGATCC 0.408000 21 35 0 0 0.608945 0 0 S100PBP 64766 broad.mit.edu 37 1 33292240 33292240 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:33292240G>A ENST00000373475.5 + 3 794 c.540G>A c.(538-540)gaG>gaA p.E180E S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.E180E|S100PBP_ENST00000398243.3_Silent_p.E180E NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 180 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TTGGAGAAGAGATGAGAGAAG 0.448000 15 47 0 0 0.624587 0 0 PPIL4 85313 broad.mit.edu 37 6 149854672 149854672 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:149854672G>C ENST00000253329.2 - 7 632 c.600C>G c.(598-600)ttC>ttG p.F200L NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 200 protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) ATCTTCCTTTGAAATCATCAA 0.323000 11 22 0 0 0.435327 0 0 PURA 5813 broad.mit.edu 37 5 139494469 139494469 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:139494469G>T ENST00000331327.3 + 1 762 c.703G>T c.(703-705)Gtg>Ttg p.V235L NM_005859.4 NP_005850.1 Q00577 PURA_HUMAN purine-rich element binding protein A 235 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCTTCGATGTGGGCTCCAA 0.597000 3 54 0.115264 0.116557 0.115264 1 0 FRMPD1 22844 broad.mit.edu 37 9 37746482 37746482 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:37746482G>C ENST00000539465.1 + 16 5046 c.4453G>C c.(4453-4455)Gag>Cag p.E1485Q RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1485Q Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1485 cytoskeleton|cytosol|plasma membrane 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) GTCCCCCGAAGAGATGCAGGG 0.637000 18 24 0 0 0.608945 0 0 SEC31B 25956 broad.mit.edu 37 10 102267742 102267742 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:102267742G>C ENST00000370345.3 - 6 659 c.562C>G c.(562-564)Cac>Gac p.H188D SEC31B_ENST00000370329.5_Missense_Mutation_p.H191D|SEC31B_ENST00000535773.1_Missense_Mutation_p.H31D|NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000451524.1_Missense_Mutation_p.H188D|NDUFB8_ENST00000557395.1_3'UTR NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 188 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CCACTGGGGTGAGCAGAAGAC 0.512000 80 88 0 0 0.870114 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913219 143913219 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:143913219G>A ENST00000409869.1 + 3 337 c.160G>A c.(160-162)Gaa>Aaa p.E54K ARHGAP15_ENST00000295095.6_Missense_Mutation_p.E54K Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 54 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) GAAGGTCACTGAACCTGTAAG 0.393000 19 58 0 0 0.608945 0 0 ANKHD1 54882 broad.mit.edu 37 5 139781720 139781720 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:139781720C>T ENST00000297183.6 + 1 292 c.168C>T c.(166-168)gtC>gtT p.V56V ANKHD1_ENST00000360839.2_Silent_p.V56V|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V56V|ANKHD1_ENST00000394722.3_Silent_p.V56V|ANKHD1_ENST00000394723.3_Silent_p.V56V NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTCGGGAGTcggcagcagcg 0.766000 3 6 0 0 0.115264 0 0 POLR1A 25885 broad.mit.edu 37 2 86305287 86305287 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:86305287C>T ENST00000263857.6 - 10 1585 c.1207G>A c.(1207-1209)Gat>Aat p.D403N POLR1A_ENST00000409681.1_Missense_Mutation_p.D403N O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 403 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 ATCTCGCTATCAAACACAATA 0.413000 18 47 0 0 0.557998 0 0 ATAD3B 83858 broad.mit.edu 37 1 1417558 1417558 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:1417558G>A ENST00000308647.7 + 6 671 c.555G>A c.(553-555)gaG>gaA p.E185E ATAD3B_ENST00000378736.3_3'UTR|ATAD3B_ENST00000378741.3_Silent_p.E17E NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 185 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACAAGAATGAGATGCTGCGAG 0.672000 4 23 0 0 0.150653 0 0 IQSEC3 440073 broad.mit.edu 37 12 176472 176472 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:176472C>G ENST00000538872.1 + 1 542 c.424C>G c.(424-426)Ctg>Gtg p.L142V IQSEC3_ENST00000326261.4_Missense_Mutation_p.L142V Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 142 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCACAAGCATCTGGGGACACA 0.697000 3 31 0 0 0.150653 0 0 CCR8 1237 broad.mit.edu 37 3 39374254 39374254 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:39374254G>A ENST00000414803.1 + 3 330 c.259G>A c.(259-261)Gag>Aag p.E87K CCR8_ENST00000545843.1_Silent_p.V61V|CCR8_ENST00000326306.4_Silent_p.V144V P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 0 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) CCCTAAAGGTGAGGACGATCA 0.502000 65 197 0 0 0.870114 0 0 POMK 84197 broad.mit.edu 37 8 42978000 42978000 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:42978000C>A ENST00000331373.5 + 5 1288 c.1033C>A c.(1033-1035)Cag>Aag p.Q345K NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 protein-O-mannose kinase 345 CATGATGTCTCAGGCAAGAGA 0.493000 46 53 2.0833e-19 2.23181e-19 0.870114 1 0 RANBP3 8498 broad.mit.edu 37 19 5941640 5941640 + Nonsense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:5941640G>C ENST00000340578.6 - 5 455 c.398C>G c.(397-399)tCa>tGa p.S133* RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000541471.1_Intron|RANBP3_ENST00000439268.2_Nonsense_Mutation_p.S133*|RANBP3_ENST00000591092.1_Nonsense_Mutation_p.S65*|RANBP3_ENST00000034275.8_Nonsense_Mutation_p.S65* NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 133 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 ACCTGACTGTGAGGGTGGGAA 0.468000 37 57 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179421783 179421783 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:179421783C>G ENST00000589042.1 - 330 88322 c.88098G>C c.(88096-88098)aaG>aaC p.K29366N TTN_ENST00000342992.6_Missense_Mutation_p.K26798N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K20426N|TTN_ENST00000460472.2_Missense_Mutation_p.K20301N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K20493N|TTN_ENST00000591111.1_Missense_Mutation_p.K27725N|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27725 Ig-like 134. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCCTGTAATCTTGCTACCTC 0.443000 10 18 0 0 0.411799 0 0 PRDX2 7001 broad.mit.edu 37 19 12911834 12911834 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:12911834G>A ENST00000301522.2 - 3 281 c.153C>T c.(151-153)tgC>tgT p.C51C PRDX2_ENST00000334482.5_Silent_p.C51C|PRDX2_ENST00000435703.1_Silent_p.C51C|CTD-2659N19.10_ENST00000585496.1_RNA NM_005809.4 NP_005800.3 P32119 PRDX2_HUMAN peroxiredoxin 2 51 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 TCTCGGTGGGGCACACAAAAG 0.587000 6 31 0 0 0.248553 0 0 RBM43 375287 broad.mit.edu 37 2 152112060 152112060 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:152112060G>C ENST00000331426.5 - 2 352 c.201C>G c.(199-201)ttC>ttG p.F67L NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 67 RRM. nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) TTTTTTCTTTGAATATTACAT 0.294000 6 86 0 0 0.248553 0 0 LOC647323 647323 broad.mit.edu 37 3 193711438 193711438 + RNA SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:193711438C>G ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 TGCACCAATTCTTGCCCATGA 0.428000 3 12 0 0 0.115264 0 0 NFKBIB 4793 broad.mit.edu 37 19 39399438 39399438 + Nonsense_Mutation SNP C C G rs11551804 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:39399438C>G ENST00000313582.5 + 6 1071 c.1037C>G c.(1036-1038)tCa>tGa p.S346* NFKBIB_ENST00000392079.3_3'UTR NM_002503.4 NP_002494.2 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 346 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) ACCCCAGCCTCAAAACCTCTT 0.527000 35 79 0 0 0.840704 0 0 MGAT1 4245 broad.mit.edu 37 5 180219305 180219305 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:180219305G>A ENST00000446023.2 - 3 1417 c.667C>T c.(667-669)Cgg>Tgg p.R223W MGAT1_ENST00000307826.4_Missense_Mutation_p.R223W|MGAT1_ENST00000393340.3_Missense_Mutation_p.R223W|MGAT1_ENST00000427865.2_Missense_Mutation_p.R223W|MGAT1_ENST00000333055.3_Missense_Mutation_p.R223W NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 223 R -> Q (in dbSNP:rs7726005). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGGTGGCCCGAAAGTACTCG 0.667000 22 36 0 0 0.608945 0 0 TRPM1 4308 broad.mit.edu 37 15 31318357 31318357 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:31318357C>A ENST00000542188.1 - 26 3978 c.3665G>T c.(3664-3666)cGg>cTg p.R1222L RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1205L|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1183L NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1183 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AGAAGTGACCCGGATGCGCTC 0.622000 14 38 2.31682e-05 2.40576e-05 0.479597 1 0 GID8 54994 broad.mit.edu 37 20 61574870 61574870 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:61574870C>T ENST00000266069.3 + 4 486 c.339C>T c.(337-339)atC>atT p.I113I NM_017896.2 NP_060366.1 GID complex subunit 8 TCGAGCTGATCCGCCAGCGGG 0.622000 15 44 0 0 0.500413 0 0 INTS8 55656 broad.mit.edu 37 8 95850811 95850811 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:95850811C>G ENST00000523731.1 + 8 1115 c.982C>G c.(982-984)Caa>Gaa p.Q328E INTS8_ENST00000447247.1_Missense_Mutation_p.Q328E NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 328 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) TCCATATAGTCAAGTCCATAT 0.413000 34 90 0 0 0.812448 0 0 KIAA1045 23349 broad.mit.edu 37 9 34971486 34971486 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:34971486G>A ENST00000242315.3 + 2 273 c.191G>A c.(190-192)gGa>gAa p.G64E KIAA1045_ENST00000544237.1_Missense_Mutation_p.G64E|KIAA1045_ENST00000476115.2_Intron NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 64 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) GCAGAAGCAGGAACCTCGGTG 0.652000 10 70 0 0 0.361761 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49967512 49967512 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:49967512G>A ENST00000293350.4 + 10 1486 c.1323G>A c.(1321-1323)ctG>ctA p.L441L ALDH16A1_ENST00000455361.2_Silent_p.L390L|ALDH16A1_ENST00000540132.1_Silent_p.L278L|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Silent_p.L276L NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 441 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CGCTGGAGCTGGGCTATGGGT 0.667000 5 14 0 0 0.217242 0 0 CFAP221 200373 broad.mit.edu 37 2 120413951 120413951 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:120413951C>G ENST00000602047.1 + 25 2682 c.1570C>G c.(1570-1572)Caa>Gaa p.Q524E PCDP1_ENST00000413369.3_Missense_Mutation_p.Q810E Q4G0U5 PCDP1_HUMAN 810 cilium calmodulin binding Colorectal(110;0.196) AGTGAAAGATCAAGCACAACC 0.488000 6 20 0 0 0.278610 0 0 COL1A2 1278 broad.mit.edu 37 7 94057029 94057029 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:94057029G>C ENST00000297268.6 + 49 3829 c.3358G>C c.(3358-3360)Gac>Cac p.D1120H NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1120 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTACAGGGCTGACCAGCCTCG 0.547000 HNSCC(75;0.22) 23 69 0 0 0.624587 0 0 SNAPC2 6618 broad.mit.edu 37 19 7987050 7987050 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:7987050C>T ENST00000221573.6 + 4 554 c.503C>T c.(502-504)cCt>cTt p.P168L SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 168 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CCTGAAATACCTAGCTCTGCC 0.642000 10 89 0 0 0.411799 0 0 MRPS22 56945 broad.mit.edu 37 3 139062950 139062950 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:139062950C>G ENST00000495075.1 + 3 514 c.82C>G c.(82-84)Cga>Gga p.R28G MRPS22_ENST00000310776.4_Missense_Mutation_p.R28G|MRPS22_ENST00000465056.1_Missense_Mutation_p.R28G P82650 RT22_HUMAN mitochondrial ribosomal protein S22 28 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 TTTCCGGGCTCGAATCCAGCC 0.617000 4 22 0 0 0.150653 0 0 BRCA1 672 broad.mit.edu 37 17 41246522 41246522 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:41246522C>G ENST00000309486.4 - 9 1165 c.138G>C c.(136-138)ctG>ctC p.L46L BRCA1_ENST00000346315.3_Silent_p.L342L|BRCA1_ENST00000471181.2_Silent_p.L342L|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Silent_p.L295L|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Silent_p.L342L|BRCA1_ENST00000357654.3_Silent_p.L342L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 342 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GATCAGCATTCAGATCTACCT 0.438000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 28 161 0 0 0.729181 0 0 PRRC2B 84726 broad.mit.edu 37 9 134350698 134350698 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:134350698G>A ENST00000357304.4 + 15 3237 c.3182G>A c.(3181-3183)aGa>aAa p.R1061K PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1061 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 TTTGGGGTCAGAGGACAGGCC 0.607000 5 22 0 0 0.184627 0 0 LHX3 8022 broad.mit.edu 37 9 139090906 139090906 + Splice_Site SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:139090906C>T ENST00000371746.3 - 4 588 c.e4-1 LHX3_ENST00000371748.5_Splice_Site NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GCCTCGGCCTCTGCGCGGCGG 0.776000 8 7 0 0 0.335167 0 0 BFSP2 8419 broad.mit.edu 37 3 133166243 133166243 + Splice_Site SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:133166243G>A ENST00000302334.2 + 2 661 c.572G>A c.(571-573)aGa>aAa p.R191K BFSP2-AS1_ENST00000515542.1_RNA NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 191 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 TTTAAAGAGAGGTAATGTCTT 0.522000 13 22 0 0 0.479597 0 0 NPTX2 4885 broad.mit.edu 37 7 98256482 98256482 + Silent SNP G G T rs145736632 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:98256482G>T ENST00000265634.3 + 4 1059 c.894G>T c.(892-894)gcG>gcT p.A298A NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 298 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CACAGGTTGCGCAGCTGCCCC 0.632000 22 32 7.87624e-14 8.40443e-14 0.639603 1 0 C1orf127 148345 broad.mit.edu 37 1 11008902 11008902 + Splice_Site SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:11008902C>T ENST00000377004.4 - 12 1290 c.e12-1 C1orf127_ENST00000377008.4_Splice_Site NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CAAGCCCCTTCTTCACCAAGA 0.547000 14 34 0 0 0.479597 0 0 MTSS1 9788 broad.mit.edu 37 8 125579322 125579322 + Nonsense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:125579322G>C ENST00000518547.1 - 8 1189 c.716C>G c.(715-717)tCa>tGa p.S239* MTSS1_ENST00000378017.3_Nonsense_Mutation_p.S239*|MTSS1_ENST00000354184.4_Nonsense_Mutation_p.S39*|MTSS1_ENST00000524090.1_Nonsense_Mutation_p.S129*|MTSS1_ENST00000431961.2_Nonsense_Mutation_p.S39*|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000325064.5_Nonsense_Mutation_p.S243* NM_001282971.1|NM_014751.4 NP_001269900.1|NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 239 IMD.|Ser-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTGTTCACTTGAGGAGGGCAG 0.483000 3 56 0 0 0.115264 0 0 MGAT1 4245 broad.mit.edu 37 5 180219511 180219511 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:180219511G>C ENST00000446023.2 - 3 1211 c.461C>G c.(460-462)tCc>tGc p.S154C MGAT1_ENST00000307826.4_Missense_Mutation_p.S154C|MGAT1_ENST00000393340.3_Missense_Mutation_p.S154C|MGAT1_ENST00000427865.2_Missense_Mutation_p.S154C|MGAT1_ENST00000333055.3_Missense_Mutation_p.S154C NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 154 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTGCCGTAGGAGGCGATGGC 0.662000 23 33 0 0 0.681144 0 0 ZBBX 79740 broad.mit.edu 37 3 167016138 167016138 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:167016138G>T ENST00000392766.2 - 18 2174 c.1834C>A c.(1834-1836)Cat>Aat p.H612N ZBBX_ENST00000455345.2_Missense_Mutation_p.H612N|ZBBX_ENST00000307529.5_Missense_Mutation_p.H612N|ZBBX_ENST00000392764.1_Missense_Mutation_p.H583N|ZBBX_ENST00000392767.2_Missense_Mutation_p.H612N NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 612 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TCTAAACGATGAGAAGGAAGT 0.333000 14 66 1.52009e-12 1.61566e-12 0.479597 1 0 ST3GAL6 10402 broad.mit.edu 37 3 98489793 98489793 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:98489793C>G ENST00000394162.1 + 4 627 c.160C>G c.(160-162)Ctg>Gtg p.L54V ST3GAL6_ENST00000468553.1_Missense_Mutation_p.L54V|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.L54V|ST3GAL6_ENST00000462152.1_Intron NM_001271145.1|NM_006100.3 NP_001258074.1|NP_006091.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 54 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 TTTTGCCTCTCTGCTGAGGTA 0.353000 7 41 0 0 0.278610 0 0 RNF19A 25897 broad.mit.edu 37 8 101271310 101271310 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:101271310G>A ENST00000519449.1 - 11 2307 c.1991C>T c.(1990-1992)tCc>tTc p.S664F RNF19A_ENST00000341084.2_Missense_Mutation_p.S664F|RNF19A_ENST00000523255.1_5'UTR NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 664 Interaction with CASR. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) TGCTTCTTTGGACCACTTGGT 0.473000 OREG0018897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 101 0 0 0.819951 0 0 KCNIP3 30818 broad.mit.edu 37 2 96047361 96047361 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:96047361C>T ENST00000295225.5 + 6 600 c.465C>T c.(463-465)ctC>ctT p.L155L KCNIP3_ENST00000468529.1_Silent_p.L129L|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Silent_p.L133L NM_013434.4 NP_038462.1 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3, calsenilin 155 EF-hand 2. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 READ - Rectum adenocarcinoma(193;0.13) TGGTTGGCCTCTCCATCCTGC 0.522000 17 38 0 0 0.624587 0 0 RASA4 10156 broad.mit.edu 37 7 102257104 102257104 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:102257104G>A ENST00000262940.7 - 1 100 c.33C>T c.(31-33)atC>atT p.I11I RASA4_ENST00000462172.1_5'UTR|RASA4_ENST00000449970.2_Silent_p.I11I|RP11-514P8.6_ENST00000519541.1_Intron NM_006989.5 NP_008920.5 O43374 RASL2_HUMAN RAS p21 protein activator 4 11 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytosol|intrinsic to internal side of plasma membrane metal ion binding|Ras GTPase activator activity lung(1)|prostate(1)|urinary_tract(1) 3 TCCCCTCCACGATGCGGATGT 0.731000 3 28 0 0 0.184627 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29453426 29453426 + Missense_Mutation SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:29453426C>A ENST00000283351.4 - 14 2364 c.2029G>T c.(2029-2031)Gtt>Ttt p.V677F TRAPPC8_ENST00000582539.1_Missense_Mutation_p.V623F NM_014939.3 NP_055754 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 677 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCAAAAAAAACCCGTGTTGCT 0.373000 7 38 0.0381472 0.0387198 0.278610 1 0 ZCCHC3 85364 broad.mit.edu 37 20 279262 279262 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:279262G>C ENST00000382352.3 + 1 1526 c.1035G>C c.(1033-1035)atG>atC p.M345I NM_033089.6 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 345 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GGACCCACATGAGCGGCAGCT 0.637000 23 80 0 0 0.667858 0 0 GRHL3 57822 broad.mit.edu 37 1 24673086 24673086 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:24673086G>C ENST00000361548.4 + 13 1728 c.1498G>C c.(1498-1500)Gag>Cag p.E500Q GRHL3_ENST00000350501.5_Missense_Mutation_p.E500Q|GRHL3_ENST00000356046.2_Missense_Mutation_p.E454Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.E407Q|GRHL3_ENST00000236255.4_Missense_Mutation_p.E505Q NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 500 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) TGAGGAGTTTGAGCCTCTGCC 0.622000 11 35 0 0 0.411799 0 0 PIK3CD 5293 broad.mit.edu 37 1 9775796 9775796 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:9775796C>G ENST00000536656.1 + 4 547 c.339C>G c.(337-339)atC>atG p.I113M PIK3CD_ENST00000361110.2_Missense_Mutation_p.I113M|PIK3CD_ENST00000377346.4_Missense_Mutation_p.I113M O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 113 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) AGAAGCTCATCAACTCACAGA 0.677000 17 54 0 0 0.624587 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44630810 44630810 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:44630810C>T ENST00000576629.1 + 12 5349 c.4854C>T c.(4852-4854)ttC>ttT p.F1618F ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Silent_p.F1618F|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1618 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) AAGAAGGATTCTCAAGGTAAA 0.398000 21 155 0 0 0.706142 0 0 KIAA0196 9897 broad.mit.edu 37 8 126090994 126090994 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:126090994C>G ENST00000318410.7 - 6 1046 c.697G>C c.(697-699)Gat>Cat p.D233H KIAA0196_ENST00000517845.1_Missense_Mutation_p.D85H NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 233 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTGTAAATATCATCAGATCTC 0.398000 22 63 0 0 0.639603 0 0 CCDC43 124808 broad.mit.edu 37 17 42759437 42759437 + Nonsense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:42759437G>C ENST00000315286.8 - 3 370 c.362C>G c.(361-363)tCa>tGa p.S121* CCDC43_ENST00000588210.1_Nonsense_Mutation_p.S121*|CCDC43_ENST00000457422.2_Nonsense_Mutation_p.S121*|C17orf104_ENST00000588805.1_Intron NM_144609.2 NP_653210.2 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 121 lung(2) 2 Prostate(33;0.0322) CTCCTCTTCTGACACCATCCT 0.498000 24 103 0 0 0.654019 0 0 BTN3A3 10384 broad.mit.edu 37 6 26444194 26444194 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:26444194C>G ENST00000244519.2 + 4 338 c.95C>G c.(94-96)tCt>tGt p.S32C BTN3A3_ENST00000339789.4_5'UTR|BTN3A3_ENST00000361232.3_5'UTR NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 32 Ig-like V-type 1. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 GCTCAGTTTTCTGTGCTTGGA 0.577000 15 44 0 0 0.520397 0 0 ACE 1636 broad.mit.edu 37 17 61564428 61564428 + Missense_Mutation SNP G G C rs148995315 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:61564428G>C ENST00000577647.1 + 4 622 c.577G>C c.(577-579)Gag>Cag p.E193Q ACE_ENST00000290866.4_Missense_Mutation_p.E767Q|ACE_ENST00000490216.2_Missense_Mutation_p.E193Q|ACE_ENST00000421982.2_Missense_Mutation_p.E77Q|ACE_ENST00000413513.3_Missense_Mutation_p.E193Q|ACE_ENST00000428043.1_Missense_Mutation_p.E767Q|ACE_ENST00000290863.6_Missense_Mutation_p.E193Q P12821 ACE_HUMAN angiotensin I converting enzyme 767 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CCTGCAGCTCGAGCCAGGTGA 0.617000 20 42 0 0 0.575678 0 0 TIAM1 7074 broad.mit.edu 37 21 32519296 32519296 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:32519296G>A ENST00000286827.3 - 21 3863 c.3392C>T c.(3391-3393)tCa>tTa p.S1131L TIAM1_ENST00000541036.1_Missense_Mutation_p.S1071L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1131 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ATACAGGAATGATCCCCCCAG 0.502000 15 34 0 0 0.520397 0 0 PCDH18 54510 broad.mit.edu 37 4 138451064 138451064 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:138451064C>T ENST00000344876.4 - 1 2565 c.2179G>A c.(2179-2181)Gag>Aag p.E727K PCDH18_ENST00000507846.1_Missense_Mutation_p.E507K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E727K|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 727 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCTTTCTTCTCGCGGTTACAC 0.458000 18 45 0 0 0.539581 0 0 FAR1 84188 broad.mit.edu 37 11 13732282 13732282 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:13732282G>A ENST00000354817.3 + 5 732 c.588G>A c.(586-588)ttG>ttA p.L196L FAR1_ENST00000527202.1_3'UTR NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 196 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 CGCCAAAATTGATAGGAGACA 0.333000 18 176 0 0 0.592651 0 0 TBCEL 219899 broad.mit.edu 37 11 120918374 120918374 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:120918374G>A ENST00000422003.2 + 3 459 c.271G>A c.(271-273)Gag>Aag p.E91K TBCEL_ENST00000529397.1_Missense_Mutation_p.E91K NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 91 cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) AGACTGGCATGAGGTGAAGTT 0.368000 8 11 0 0 0.307466 0 0 FAM46B 115572 broad.mit.edu 37 1 27332971 27332971 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:27332971C>T ENST00000289166.5 - 2 907 c.742G>A c.(742-744)Gaa>Aaa p.E248K NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 248 p.E247K(1) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) TACAGGCTTTCGCCTGTGACC 0.622000 9 19 0 0 0.361761 0 0 UBN1 29855 broad.mit.edu 37 16 4924679 4924679 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:4924679G>C ENST00000396658.4 + 14 2971 c.2268G>C c.(2266-2268)gaG>gaC p.E756D UBN1_ENST00000262376.6_Missense_Mutation_p.E756D|UBN1_ENST00000590769.1_Missense_Mutation_p.E756D|UBN1_ENST00000545171.1_Missense_Mutation_p.E756D NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 756 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 AAAAACCAGAGAGTTCTGGCT 0.552000 17 58 0 0 0.557998 0 0 CDH18 1016 broad.mit.edu 37 5 19591215 19591215 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr5:19591215G>A ENST00000507958.1 - 9 1940 c.950C>T c.(949-951)tCa>tTa p.S317L CDH18_ENST00000511273.1_Missense_Mutation_p.S317L|CDH18_ENST00000502796.1_Missense_Mutation_p.S317L|CDH18_ENST00000382275.1_Missense_Mutation_p.S317L|CDH18_ENST00000506372.1_Missense_Mutation_p.S317L|CDH18_ENST00000274170.4_Missense_Mutation_p.S317L Q13634 CAD18_HUMAN cadherin 18, type 2 317 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGTGGAGATTGAGAATATTCC 0.408000 10 129 0 0 0.361761 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1893769 1893769 + Silent SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:1893769C>G ENST00000518288.1 + 28 3580 c.3417C>G c.(3415-3417)ctC>ctG p.L1139L ARHGEF10_ENST00000262112.6_Silent_p.L1111L|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Silent_p.L1115L|ARHGEF10_ENST00000398564.1_Silent_p.L1140L|ARHGEF10_ENST00000520359.1_Silent_p.L1077L O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1140 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CGGAAACTCTCAAGCACCTGC 0.617000 18 38 0 0 0.575678 0 0 DDX5 1655 broad.mit.edu 37 17 62499953 62499953 + Nonsense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:62499953G>A ENST00000225792.5 - 5 876 c.475C>T c.(475-477)Cag>Tag p.Q159* DDX5_ENST00000578804.1_Nonsense_Mutation_p.Q159*|DDX5_ENST00000450599.2_Intron NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 159 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) AGGAATGGCTGATGATTGATG 0.333000 T ETV4 prostate 13 64 0 0 0.520397 0 0 C2CD5 9847 broad.mit.edu 37 12 22659717 22659717 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:22659717C>T ENST00000333957.4 - 10 1330 c.1075G>A c.(1075-1077)Gga>Aga p.G359R C2CD5_ENST00000536386.1_Missense_Mutation_p.G361R|C2CD5_ENST00000396028.2_Missense_Mutation_p.G350R|C2CD5_ENST00000545552.1_Missense_Mutation_p.G350R|C2CD5_ENST00000542676.1_Missense_Mutation_p.G359R|C2CD5_ENST00000544930.1_Missense_Mutation_p.G152R|C2CD5_ENST00000446597.1_Missense_Mutation_p.G359R NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 ACAAGGAATCCAGGAGGAAAT 0.373000 16 65 0 0 0.539581 0 0 PTPRJ 5795 broad.mit.edu 37 11 48185099 48185099 + Silent SNP C C T rs2229704 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:48185099C>T ENST00000418331.2 + 23 4000 c.3648C>T c.(3646-3648)atC>atT p.I1216I NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1216 Tyrosine-protein phosphatase. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 ACCTGCTCATCAACTTCCGGT 0.547000 28 64 0 0 0.729181 0 0 RP1 6101 broad.mit.edu 37 8 55538439 55538439 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:55538439C>T ENST00000220676.1 + 4 2145 c.1997C>T c.(1996-1998)tCa>tTa p.S666L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 666 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGATTTTGTCATCTGTTGCC 0.348000 10 23 0 0 0.361761 0 0 ABCD3 5825 broad.mit.edu 37 1 94953342 94953342 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:94953342C>G ENST00000370214.4 + 12 1084 c.1060C>G c.(1060-1062)Cta>Gta p.L354V ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.L281V|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Missense_Mutation_p.L378V NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 354 ABC transmembrane type-1. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TTCGGAACTTCTAGAGGTAAA 0.333000 5 47 0 0 0.575678 0 0 KATNB1 10300 broad.mit.edu 37 16 57789144 57789144 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:57789144C>T ENST00000379661.3 + 15 1802 c.1410C>T c.(1408-1410)ttC>ttT p.F470F NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 470 Interaction with KATNA1 and NDEL1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) CCTCCGACTTCCTGCCCGTGA 0.662000 3 13 0 0 0.184627 0 0 TDRD6 221400 broad.mit.edu 37 6 46660831 46660831 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:46660831G>A ENST00000544460.1 + 1 5220 c.4966G>A c.(4966-4968)Gaa>Aaa p.E1656K TDRD6_ENST00000316081.6_Missense_Mutation_p.E1656K NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1656 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) CTATTTCTATGAAATAATAAC 0.363000 12 46 0 0 0.435327 0 0 MARK4 57787 broad.mit.edu 37 19 45767943 45767943 + Splice_Site SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:45767943G>A ENST00000300843.4 + 5 654 c.357G>A c.(355-357)gtG>gtA p.V119V MARK4_ENST00000262891.4_Splice_Site_p.V119V NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 119 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCATTATAGTGAAGCTCTTTG 0.552000 38 91 0 0 0.859065 0 0 FGA 2243 broad.mit.edu 37 4 155507290 155507290 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:155507290C>T ENST00000302053.3 - 5 1369 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K FGA_ENST00000403106.3_Missense_Mutation_p.E431K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 431 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) ACCAGTTTTTCTGTGTGGTAC 0.507000 37 106 0 0 0.827153 0 0 EPB41 2035 broad.mit.edu 37 1 29319848 29319848 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:29319848C>G ENST00000343067.4 + 3 602 c.475C>G c.(475-477)Cag>Gag p.Q159E EPB41_ENST00000373798.1_Missense_Mutation_p.Q159E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.Q159E|EPB41_ENST00000356093.2_Missense_Mutation_p.Q159E|EPB41_ENST00000373797.1_Missense_Mutation_p.Q159E|EPB41_ENST00000347529.3_Missense_Mutation_p.Q159E|EPB41_ENST00000349460.4_5'UTR NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 159 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) GTAGCCTGCTCAGGAAGAACT 0.358000 53 133 0 0 0.870114 0 0 SLC2A1 6513 broad.mit.edu 37 1 43396370 43396370 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:43396370G>A ENST00000426263.3 - 4 621 c.443C>T c.(442-444)tCa>tTa p.S148L SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.S148L|SLC2A1_ENST00000415851.2_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 148 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) GGCTGTGGGTGACACTTCACC 0.622000 6 16 0 0 0.217242 0 0 PKHD1 5314 broad.mit.edu 37 6 51889923 51889923 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:51889923G>A ENST00000371117.3 - 32 4960 c.4685C>T c.(4684-4686)tCt>tTt p.S1562F PKHD1_ENST00000340994.4_Missense_Mutation_p.S1562F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1562 IPT/TIG 10. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AACATTACCAGAACAAGCATA 0.428000 17 31 0 0 0.500413 0 0 PISD 23761 broad.mit.edu 37 22 32017073 32017073 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr22:32017073G>C ENST00000382151.2 - 6 1070 c.651C>G c.(649-651)ctC>ctG p.L217L PISD_ENST00000266095.5_Silent_p.L217L|PISD_ENST00000439502.2_Silent_p.L251L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Silent_p.L217L|PISD_ENST00000336566.4_Silent_p.L250L Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 251 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 Phosphatidylserine(DB00144) CACAGTGATAGAGCTCATTCC 0.627000 OREG0003530 type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 24 77 0 0 0.706142 0 0 ESX1 80712 broad.mit.edu 37 X 103499060 103499060 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chrX:103499060G>A ENST00000372588.4 - 2 364 c.281C>T c.(280-282)cCg>cTg p.P94L NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 94 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 CTGTTGCTCCGGCTTGGTCAG 0.716000 27 33 0 0 0.750413 0 0 FAM120C 54954 broad.mit.edu 37 X 54162953 54162953 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chrX:54162953G>C ENST00000375180.2 - 5 1285 c.1229C>G c.(1228-1230)tCt>tGt p.S410C FAM120C_ENST00000328235.4_Missense_Mutation_p.S410C NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 410 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TGGCAGCGAAGAGAGTTTGGT 0.463000 15 45 0 0 0.520397 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78346479 78346479 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:78346479C>T ENST00000409931.3 - 2 482 c.411G>A c.(409-411)aaG>aaA p.K137K TBC1D2B_ENST00000300584.3_Silent_p.K137K Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 137 PH. intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 ATTCCCATCTCTTCTGCTGAA 0.468000 12 45 0 0 0.435327 0 0 KATNB1 10300 broad.mit.edu 37 16 57789809 57789809 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:57789809G>C ENST00000379661.3 + 17 2015 c.1623G>C c.(1621-1623)ctG>ctC p.L541L NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 541 Interaction with KATNA1 and NDEL1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) TGGACCTCCTGAACATCGTCA 0.642000 17 40 0 0 0.608945 0 0 RIOK3 8780 broad.mit.edu 37 18 21044494 21044494 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:21044494C>G ENST00000339486.3 + 5 1062 c.445C>G c.(445-447)Ccc>Gcc p.P149A RIOK3_ENST00000577501.1_Missense_Mutation_p.P149A|RIOK3_ENST00000581585.1_Missense_Mutation_p.P133A NM_003831.3 NP_003822.2 O14730 RIOK3_HUMAN RIO kinase 3 149 chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAAACCGGTTCCCACTCCTAA 0.363000 35 24 0 0 0.796494 0 0 PRDM2 7799 broad.mit.edu 37 1 14104976 14104976 + Missense_Mutation SNP A A T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:14104976A>T ENST00000235372.7 + 8 1542 c.686A>T c.(685-687)gAg>gTg p.E229V PRDM2_ENST00000413440.1_Missense_Mutation_p.E28V|PRDM2_ENST00000343137.4_Missense_Mutation_p.E28V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.E229V|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 229 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACCCTCCAGGAGGTGGCCAGT 0.582000 13 100 0 0 0.435327 0 0 IL21R 50615 broad.mit.edu 37 16 27460069 27460069 + Nonsense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:27460069C>G ENST00000337929.3 + 9 1555 c.1082C>G c.(1081-1083)tCa>tGa p.S361* IL21R_ENST00000395754.4_Nonsense_Mutation_p.S361*|IL21R_ENST00000395755.1_Nonsense_Mutation_p.S361*|IL21R_ENST00000564089.1_Nonsense_Mutation_p.S361*|IL21R-AS1_ENST00000563191.1_RNA NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 361 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 TCGGGGGGCTCAGCTTACAGT 0.617000 T BCL6 NHL 13 64 0 0 0.557998 0 0 HNRNPK 3190 broad.mit.edu 37 9 86587005 86587005 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:86587005G>A ENST00000376263.3 - 11 968 c.745C>T c.(745-747)Cgc>Tgc p.R249C HNRNPK_ENST00000376264.2_Missense_Mutation_p.R249C|HNRNPK_ENST00000351839.3_Missense_Mutation_p.R249C|HNRNPK_ENST00000360384.5_Missense_Mutation_p.R249C|HNRNPK_ENST00000376281.4_Missense_Mutation_p.R249C NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 249 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1.|RNA-binding RGG-box. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 CCCACTGGGCGTCCGCGACGG 0.498000 35 43 0 0 0.804634 0 0 POMT2 29954 broad.mit.edu 37 14 77772681 77772681 + Splice_Site SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:77772681C>G ENST00000261534.4 - 3 639 c.437G>C c.(436-438)gGa>gCa p.G146A POMT2_ENST00000556880.1_5'UTR NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 146 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) AAGCCTTACTCCTCTCATTCC 0.483000 12 35 0 0 0.411799 0 0 MYLPF 29895 broad.mit.edu 37 16 30388008 30388008 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:30388008C>G ENST00000322861.7 + 5 426 c.345C>G c.(343-345)atC>atG p.I115M NM_013292.3 NP_037424.2 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast skeletal muscle 115 EF-hand 2. skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle large_intestine(2)|lung(4) 6 Colorectal(24;0.193) AGGGCACCATCAAGAAGAAGT 0.582000 3 19 0 0 0.115264 0 0 ARID1A 8289 broad.mit.edu 37 1 27100195 27100195 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:27100195C>T ENST00000324856.7 + 16 4362 c.3991C>T c.(3991-3993)Cag>Tag p.Q1331* ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1331*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q948* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1331 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1331*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) gcagcagcagcagcagcagca 0.582000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 38 87 0 0 0.812448 0 0 RUSC2 9853 broad.mit.edu 37 9 35546546 35546546 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:35546546G>C ENST00000455600.1 + 2 597 c.28G>C c.(28-30)Gag>Cag p.E10Q RUSC2_ENST00000468041.1_3'UTR NM_001135999.1 NP_001129471 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 10 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GCTGACTGGAGAGACCCTCAT 0.562000 68 87 0 0 0.870114 0 0 PTPN13 5783 broad.mit.edu 37 4 87694009 87694009 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:87694009G>A ENST00000436978.1 + 32 5742 c.5262G>A c.(5260-5262)tcG>tcA p.S1754S PTPN13_ENST00000511467.1_Silent_p.S1754S|PTPN13_ENST00000411767.2_Silent_p.S1749S|PTPN13_ENST00000427191.2_Silent_p.S1730S|PTPN13_ENST00000316707.6_Silent_p.S1558S NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1749 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CCTCTAGTTCGATGGATAAGT 0.408000 18 98 0 0 0.520397 0 0 CAPN3 825 broad.mit.edu 37 15 42703970 42703970 + Nonstop_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:42703970G>C ENST00000397163.3 + 24 2684 c.2465G>C c.(2464-2466)tGa>tCa p.*822S CAPN3_ENST00000569136.1_Nonstop_Mutation_p.*157S|CAPN3_ENST00000561817.1_Intron|CAPN3_ENST00000397204.4_Nonstop_Mutation_p.*157S|CAPN3_ENST00000349748.3_Nonstop_Mutation_p.*730S|CAPN3_ENST00000318023.7_Nonstop_Mutation_p.*816S|CAPN3_ENST00000357568.3_Nonstop_Mutation_p.*816S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Nonstop_Mutation_p.*157S|CAPN3_ENST00000356316.3_Nonstop_Mutation_p.*729S|CAPN3_ENST00000397200.4_Nonstop_Mutation_p.*310S NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 0 muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) ATGTATGCCTGAACCAGGCTG 0.517000 6 49 0 0 0.278610 0 0 EMX1 2016 broad.mit.edu 37 2 73160999 73160999 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:73160999G>A ENST00000258106.6 + 3 1167 c.789G>A c.(787-789)aaG>aaA p.K263K EMX1_ENST00000394111.5_3'UTR NM_004097.2 NP_004088.2 Q04741 EMX1_HUMAN empty spiracles homeobox 1 230 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K263K(1) cervix(1)|large_intestine(2)|lung(3) 6 AGCAGAAGAAGAAGGGCTCCC 0.582000 10 41 0 0 0.387290 0 0 EP400 57634 broad.mit.edu 37 12 132502128 132502128 + Silent SNP C C T rs138508770 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:132502128C>T ENST00000333577.4 + 21 4189 c.4080C>T c.(4078-4080)atC>atT p.I1360I EP400_ENST00000389561.2_Silent_p.I1324I|EP400_ENST00000332482.4_Silent_p.I1287I|EP400_ENST00000389562.2_Silent_p.I1323I|EP400_ENST00000330386.6_Silent_p.I1324I Q96L91 EP400_HUMAN E1A binding protein p400 1360 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TCCTGAGCATCCTTGTGCGGC 0.607000 28 59 0 0 0.740014 0 0 LILRA1 11024 broad.mit.edu 37 19 55107923 55107923 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:55107923C>T ENST00000251372.3 + 7 1410 c.1228C>T c.(1228-1230)Cac>Tac p.H410Y LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron NM_006863.2 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 410 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCTGCTGTCTCACCCCAGTGA 0.612000 38 108 0 0 0.870114 0 0 FAM160A2 84067 broad.mit.edu 37 11 6239209 6239209 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:6239209C>T ENST00000265978.4 - 9 2007 c.1649G>A c.(1648-1650)cGa>cAa p.R550Q FAM160A2_ENST00000524416.1_Missense_Mutation_p.R536Q|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R536Q NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 536 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGTAGGCCGTCGGCCAGGGCT 0.657000 9 34 0 0 0.307466 0 0 CACNA1A 773 broad.mit.edu 37 19 13340984 13340984 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:13340984C>G ENST00000360228.5 - 36 5439 c.5440G>C c.(5440-5442)Gag>Cag p.E1814Q CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1815Q|CACNA1A_ENST00000574822.1_5'UTR NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1815 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GTGAGGTACTCAAAGTTGTCC 0.577000 4 34 0 0 0.217242 0 0 SETD3 84193 broad.mit.edu 37 14 99871626 99871626 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:99871626C>T ENST00000331768.5 - 10 1166 c.1007G>A c.(1006-1008)aGa>aAa p.R336K NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 336 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) TATTTTCACTCTGTCGTGTGA 0.438000 29 62 0 0 0.706142 0 0 EAPP 55837 broad.mit.edu 37 14 35008795 35008795 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:35008795C>T ENST00000250454.3 - 1 121 c.40G>A c.(40-42)Gaa>Aaa p.E14K NM_018453.3 NP_060923.2 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 14 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 12 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) CTAGGCTCTTCAACCGCGTAG 0.627000 6 26 0 0 0.278610 0 0 CCNF 899 broad.mit.edu 37 16 2495468 2495468 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:2495468G>A ENST00000397066.4 + 10 1027 c.939G>A c.(937-939)ctG>ctA p.L313L NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 313 Cyclin N-terminal. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) GGTACATTCTGATCGACTGGC 0.592000 17 92 0 0 0.639603 0 0 POMGNT2 84892 broad.mit.edu 37 3 43121671 43121671 + Missense_Mutation SNP T T C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:43121671T>C ENST00000344697.2 - 2 1598 c.1253A>G c.(1252-1254)gAc>gGc p.D418G POMGNT2_ENST00000441964.1_Missense_Mutation_p.D418G NM_032806.5 NP_116195.2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) CTCAGCCCGGTCCAGATGGGT 0.612000 6 24 0 0 0.278610 0 0 GCC2 9648 broad.mit.edu 37 2 109087226 109087226 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:109087226G>C ENST00000309863.6 + 6 2155 c.1441G>C c.(1441-1443)Gag>Cag p.E481Q NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 481 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 TTTAAATTATGAGAGTTTACG 0.333000 16 48 0 0 0.520397 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183791 11183791 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:11183791G>C ENST00000390675.2 - 1 215 c.144C>G c.(142-144)ctC>ctG p.L48L TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 48 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 CCAGAGCAGTGAGAATCTGGT 0.368000 16 71 0 0 0.557998 0 0 FMO3 2328 broad.mit.edu 37 1 171076861 171076861 + Missense_Mutation SNP G G A rs113006768 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:171076861G>A ENST00000367755.4 + 4 478 c.367G>A c.(367-369)Ggc>Agc p.G123S FMO3_ENST00000392085.2_Missense_Mutation_p.G123S|FMO3_ENST00000542847.1_Missense_Mutation_p.G103S|FMO3_ENST00000538429.1_Missense_Mutation_p.G60S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 123 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity 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) TGCAACTACTGGCCAGTGGGA 0.403000 25 64 0 0 0.740014 0 0 PIK3CG 5294 broad.mit.edu 37 7 106545575 106545575 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:106545575C>G ENST00000359195.3 + 11 3362 c.3052C>G c.(3052-3054)Cta>Gta p.L1018V PIK3CG_ENST00000440650.2_Missense_Mutation_p.L1018V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.L1018V NM_001282427.1|NM_002649.2 NP_001269356.1|NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 1018 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TAAGGCTTATCTAGCCCTTCG 0.398000 41 136 0 0 0.870114 0 0 RNASEL 6041 broad.mit.edu 37 1 182555827 182555827 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:182555827C>G ENST00000367559.3 - 2 368 c.115G>C c.(115-117)Gac>Cac p.D39H RNASEL_ENST00000444138.1_Missense_Mutation_p.D39H|RNASEL_ENST00000539397.1_Missense_Mutation_p.D39H NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 39 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TGGACCAGGTCAACATCTTCG 0.512000 30 119 0 0 0.760397 0 0 S100PBP 64766 broad.mit.edu 37 1 33291827 33291827 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:33291827G>A ENST00000373475.5 + 3 381 c.127G>A c.(127-129)Gag>Aag p.E43K S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.E43K|S100PBP_ENST00000398243.3_Missense_Mutation_p.E43K NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 43 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GGAGCTGTCAGAGGGAGAAGA 0.468000 35 136 0 0 0.804634 0 0 ADH6 130 broad.mit.edu 37 4 100129920 100129920 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:100129920G>C ENST00000394897.1 - 6 815 c.733C>G c.(733-735)Cag>Gag p.Q245E ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.Q36E|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.Q245E|ADH6_ENST00000394899.2_Missense_Mutation_p.Q245E P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 245 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TTTAAGTCCTGAGGGTTGAGG 0.438000 53 257 0 0 0.870114 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34113462 34113462 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:34113462A>G ENST00000341394.4 + 15 1753 c.1564A>G c.(1564-1566)Atg>Gtg p.M522V CAPRIN1_ENST00000389645.3_Missense_Mutation_p.M522V|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.M522V|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.M441V|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.M522V NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 522 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) GGTGTTCAATATGAATGCCCC 0.373000 15 52 0 0 0.557998 0 0 VILL 50853 broad.mit.edu 37 3 38043072 38043072 + Silent SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:38043072G>T ENST00000283713.6 + 12 1574 c.1308G>T c.(1306-1308)ctG>ctT p.L436L VILL_ENST00000383759.2_Silent_p.L436L|VILL_ENST00000465644.1_Silent_p.L154L O15195 VILL_HUMAN villin-like 436 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) AGTACATCCTGTACCTATGGC 0.607000 16 96 1.33834e-09 1.41414e-09 0.557998 1 0 TLL2 7093 broad.mit.edu 37 10 98155044 98155044 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:98155044C>G ENST00000357947.3 - 13 1851 c.1626G>C c.(1624-1626)gaG>gaC p.E542D TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 542 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCTCCGGCTTCTCATAGCCAC 0.502000 11 32 0 0 0.864702 0 0 MBTPS1 8720 broad.mit.edu 37 16 84135328 84135328 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:84135328G>C ENST00000343411.3 - 2 556 c.61C>G c.(61-63)Ctg>Gtg p.L21V NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 21 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CTGTCGCCCAGATGTTTCTTC 0.438000 39 81 0 0 0.870114 0 0 VSIG8 391123 broad.mit.edu 37 1 159827692 159827692 + Silent SNP C C A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:159827692C>A ENST00000368100.1 - 4 630 c.495G>T c.(493-495)ctG>ctT p.L165L NM_001013661.1 NP_001013683.1 Q5VU13 VSIG8_HUMAN V-set and immunoglobulin domain containing 8 165 Ig-like V-type 2. integral to membrane p.L165L(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(112;0.0597) CATAGCACTTCAGCACCACAT 0.592000 11 38 0.00010058 0.000104042 0.411799 1 0 C6orf203 51250 broad.mit.edu 37 6 107365503 107365503 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:107365503G>A ENST00000443043.1 + 4 1200 c.525G>A c.(523-525)ctG>ctA p.L175L C6orf203_ENST00000311381.5_Silent_p.L170L|C6orf203_ENST00000405204.2_Silent_p.L170L NM_001142470.1 NP_001135942.1 Q9P0P8 CF203_HUMAN chromosome 6 open reading frame 203 170 large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1) 8 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) AACTCAGGCTGAATGAGGAAA 0.383000 28 53 0 0 0.760397 0 0 TANGO6 79613 broad.mit.edu 37 16 68909058 68909058 + Splice_Site SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr16:68909058G>A ENST00000261778.1 + 5 1008 c.996G>A c.(994-996)gcG>gcA p.A332A NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) TTGTGCCAGCGGGAGCAGCTG 0.468000 17 50 0 0 0.624587 0 0 GRIK3 2899 broad.mit.edu 37 1 37319267 37319267 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:37319267C>T ENST00000373091.3 - 8 1177 c.1161G>A c.(1159-1161)cgG>cgA p.R387R GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Silent_p.R387R NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 387 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CAAAATCCGTCCGCAAGCCAC 0.547000 24 67 0 0 0.639603 0 0 REC8 9985 broad.mit.edu 37 14 24647296 24647296 + Splice_Site SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr14:24647296G>C ENST00000311457.3 + 13 1460 c.e13-1 REC8_ENST00000559919.1_Splice_Site O95072 REC8_HUMAN REC8 meiotic recombination protein mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) CCACTCAACAGAGGAGGCCCC 0.622000 16 49 0 0 0.575678 0 0 SMAD3 4088 broad.mit.edu 37 15 67473650 67473650 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr15:67473650G>A ENST00000327367.4 + 6 1040 c.730G>A c.(730-732)Gtc>Atc p.V244I SMAD3_ENST00000537194.2_Missense_Mutation_p.V49I|SMAD3_ENST00000439724.3_Missense_Mutation_p.V200I|SMAD3_ENST00000540846.2_Missense_Mutation_p.V139I NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 244 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GAACCAGCGCGTCGGGGAGAC 0.607000 8 52 0 0 0.335167 0 0 EHD2 30846 broad.mit.edu 37 19 48244215 48244215 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:48244215G>A ENST00000263277.3 + 6 1409 c.1158G>A c.(1156-1158)ctG>ctA p.L386L EHD2_ENST00000538399.1_Silent_p.L250L|EHD2_ENST00000540884.1_3'UTR NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 386 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) ACGAGATGCTGACGCACGACA 0.647000 22 31 0 0 0.667858 0 0 GLIPR1L1 256710 broad.mit.edu 37 12 75728668 75728668 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:75728668G>A ENST00000312442.2 + 1 206 c.160G>A c.(160-162)Gac>Aac p.D54N GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.D54N|CAPS2_ENST00000442339.2_Intron NM_152779.2 NP_689992.1 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 54 extracellular region endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 TCCCGCGGCCGACATGAAATA 0.473000 OREG0021998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 46 0 0 0.500413 0 0 LYZL2 119180 broad.mit.edu 37 10 30901786 30901786 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:30901786C>G ENST00000375318.2 - 4 536 c.480G>C c.(478-480)aaG>aaC p.K160N NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 114 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) TAACAATTTTCTTGGCACAGA 0.443000 8 91 0 0 0.520397 0 0 KCNN1 3780 broad.mit.edu 37 19 18099287 18099287 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:18099287G>A ENST00000222249.9 + 7 1442 c.1123G>A c.(1123-1125)Gag>Aag p.E375K NM_002248.3 NP_002239.2 Q92952 KCNN1_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 8 CACCAAGGCTGAGAAGCACGT 0.637000 7 16 0 0 0.307466 0 0 ANK2 287 broad.mit.edu 37 4 114274832 114274832 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:114274832G>T ENST00000357077.4 + 38 5111 c.5058G>T c.(5056-5058)gaG>gaT p.E1686D ANK2_ENST00000264366.6_Missense_Mutation_p.E1653D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1653 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCCCAGATGAGACACAGAGTA 0.443000 3 46 0.115264 0.116557 0.115264 1 0 SSBP3 23648 broad.mit.edu 37 1 54692805 54692805 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:54692805C>T ENST00000371320.3 - 18 1576 c.1166G>A c.(1165-1167)tGa>tAa p.*389* SSBP3_ENST00000371319.3_Silent_p.*362*|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Silent_p.*369*|SSBP3_ENST00000417664.2_Silent_p.*279* NM_145716.2 NP_663768.1 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 11 AAGGGGGGATCACACACTCAT 0.567000 52 193 0 0 0.870114 0 0 ABHD8 79575 broad.mit.edu 37 19 17411697 17411697 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr19:17411697C>T ENST00000247706.3 - 2 968 c.729G>A c.(727-729)aaG>aaA p.K243K MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 243 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 CATTTCGCTTCTTGGCATAGC 0.597000 36 150 0 0 0.834066 0 0 VILL 50853 broad.mit.edu 37 3 38043288 38043288 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:38043288G>A ENST00000283713.6 + 13 1682 c.1416G>A c.(1414-1416)gtG>gtA p.V472V VILL_ENST00000383759.2_Silent_p.V472V|VILL_ENST00000465644.1_Silent_p.V190V O15195 VILL_HUMAN villin-like 472 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) AGGAGCATGTGACCATGGGCA 0.607000 10 68 0 0 0.411799 0 0 UNC93A 54346 broad.mit.edu 37 6 167709658 167709658 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:167709658G>A ENST00000230256.3 + 3 583 c.408G>A c.(406-408)caG>caA p.Q136Q UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Silent_p.Q136Q NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 136 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGGTGAACCAGTATTTTGGCA 0.537000 28 116 0 0 0.779181 0 0 ATP11B 23200 broad.mit.edu 37 3 182566341 182566341 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:182566341G>C ENST00000323116.5 + 10 1107 c.847G>C c.(847-849)Gaa>Caa p.E283Q ATP11B_ENST00000482794.1_3'UTR NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 283 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATCTGCAGTAGAAAAGTAAGA 0.249000 13 35 0 0 0.435327 0 0 DUSP2 1844 broad.mit.edu 37 2 96809649 96809649 + Silent SNP G G A rs147952657 byFrequency TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:96809649G>A ENST00000288943.4 - 4 943 c.858C>T c.(856-858)ttC>ttT p.F286F NM_004418.3 NP_004409.1 Q05923 DUS2_HUMAN dual specificity phosphatase 2 286 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity NS(1)|breast(1)|lung(2)|skin(1) 5 Ovarian(717;0.0228) GCTGCTTAACGAAGTCAAAGG 0.617000 10 22 0 0 0.411799 0 0 DAGLB 221955 broad.mit.edu 37 7 6472552 6472552 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:6472552G>A ENST00000425398.2 - 4 549 c.458C>T c.(457-459)tCg>tTg p.S153L DAGLB_ENST00000297056.6_Silent_p.L239L|DAGLB_ENST00000421761.2_Missense_Mutation_p.S26L|DAGLB_ENST00000428902.2_Silent_p.L112L|DAGLB_ENST00000436575.1_Silent_p.L198L NM_001142936.1 NP_001136408.1 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 0 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) GAAGCAGGGCGAGGCCCGCCG 0.607000 33 38 0 0 0.788014 0 0 LAMA5 3911 broad.mit.edu 37 20 60897153 60897153 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr20:60897153C>G ENST00000252999.3 - 48 6484 c.6418G>C c.(6418-6420)Gag>Cag p.E2140Q NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2140 Laminin EGF-like 22. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGCAGCGCTCCCCGCTGAGC 0.692000 9 19 0 0 0.307466 0 0 SPEG 10290 broad.mit.edu 37 2 220337739 220337739 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:220337739C>G ENST00000312358.7 + 16 4200 c.4068C>G c.(4066-4068)atC>atG p.I1356M SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1356 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TCCAGCACATCTTCCGGGTCC 0.667000 15 56 0 0 0.520397 0 0 ACOXL 55289 broad.mit.edu 37 2 111562905 111562905 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:111562905A>G ENST00000389811.4 + 9 910 c.686A>G c.(685-687)aAt>aGt p.N229S ACOXL_ENST00000340561.4_Missense_Mutation_p.N229S|ACOXL_ENST00000439055.1_Missense_Mutation_p.N229S Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 229 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 GCAAGATTCAATGCCATGCTG 0.458000 30 85 0 0 0.729181 0 0 CCL1 6346 broad.mit.edu 37 17 32688887 32688887 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr17:32688887G>C ENST00000225842.3 - 2 174 c.105C>G c.(103-105)ttC>ttG p.F35L NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 35 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) CCGCAAATGAGAAGCAACATC 0.453000 OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 77 0 0 0.750413 0 0 FAM135B 51059 broad.mit.edu 37 8 139263175 139263175 + Missense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:139263175G>T ENST00000395297.1 - 6 621 c.451C>A c.(451-453)Cag>Aag p.Q151K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 151 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCGGGACCTGGTGGTGCAGA 0.587000 HNSCC(54;0.14) 52 189 2.53126e-37 2.75536e-37 0.870114 1 0 WRN 7486 broad.mit.edu 37 8 31015039 31015039 + Silent SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:31015039C>T ENST00000298139.5 + 33 4224 c.3975C>T c.(3973-3975)gtC>gtT p.V1325V NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1325 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) ACCCTCCCGTCAACTCAGGTG 0.478000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 11 13 0 0 0.411799 0 0 CIT 11113 broad.mit.edu 37 12 120173111 120173111 + Missense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr12:120173111C>T ENST00000392521.2 - 25 3065 c.3010G>A c.(3010-3012)Gaa>Aaa p.E1004K CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.E962K NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 962 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TTGTTGAGTTCAGCGTTGTCC 0.478000 10 87 0 0 0.361761 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86569360 86569360 + Silent SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr7:86569360G>C ENST00000450689.2 - 6 998 c.813C>G c.(811-813)gtC>gtG p.V271V KIAA1324L_ENST00000416314.1_Silent_p.V104V|KIAA1324L_ENST00000297222.6_Silent_p.V31V|KIAA1324L_ENST00000444627.1_Silent_p.V271V NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 271 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GCACAGGCTTGACCGCCTTAG 0.368000 18 77 0 0 0.608945 0 0 USP47 55031 broad.mit.edu 37 11 11913630 11913630 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr11:11913630C>G ENST00000339865.5 + 3 1032 c.269C>G c.(268-270)tCt>tGt p.S90C USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.S158C|USP47_ENST00000399455.2_Missense_Mutation_p.S178C NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 178 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) TCCTACTCATCTATTTTGAAT 0.393000 17 148 0 0 0.539581 0 0 CEBPZ 10153 broad.mit.edu 37 2 37449631 37449631 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:37449631C>G ENST00000234170.5 - 4 2102 c.1957G>C c.(1957-1959)Gaa>Caa p.E653Q NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 653 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) ATCTCTGTTTCTTTGTCTGCA 0.343000 13 40 0 0 0.457914 0 0 COPB2 9276 broad.mit.edu 37 3 139087069 139087069 + Missense_Mutation SNP A A G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:139087069A>G ENST00000333188.5 - 13 1644 c.1463T>C c.(1462-1464)cTt>cCt p.L488P COPB2_ENST00000507777.1_Missense_Mutation_p.L459P NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 488 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 CAGATACTTAAGGATAAAAAA 0.393000 9 52 0 0 0.335167 0 0 UROD 7389 broad.mit.edu 37 1 45479331 45479332 + Frame_Shift_Del DEL AG AG - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr1:45479331_45479332delAG ENST00000246337.4 + 5 461_462 c.342_343delAG c.(340-345)gaagagfs p.EE114fs UROD_ENST00000494399.1_3'UTR NM_000374.4 NP_000365.3 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 114 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) CATTAAGAGAAGAGCAGGACCT 0.559 Porphyria Cutanea Tarda, Type II 13 56 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22666863 22666865 + RNA DEL GAG GAG - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr2:22666863_22666865delGAG ENST00000450551.1 - 0 70 AC096570.2_ENST00000419013.1_lincRNA aaaggaggaagaggaggaggagg 0.424 2 4 --- --- --- --- EIF4A2 1974 broad.mit.edu 37 3 186504931 186504932 + Frame_Shift_Del DEL AC AC - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr3:186504931_186504932delAC ENST00000323963.5 + 8 851_852 c.787_788delAC c.(787-789)acafs p.T263fs EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.T264fs|EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.T168fs Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 263 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) GAAGTTGGATACACTTTGTGAC 0.416 T BCL6 NHL 56 178 --- --- --- --- LINC00575 439934 broad.mit.edu 37 4 83540364 83540366 + RNA DEL AGC AGC - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr4:83540364_83540366delAGC ENST00000426551.1 - 0 226 NR_024087.1 gagcgtggcaagcagcagcagca 0.502 3 6 --- --- --- --- KIFC1 3833 broad.mit.edu 37 6 33372709 33372709 + Frame_Shift_Del DEL G G - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:33372709delG ENST00000428849.2 + 7 1287 c.837delG c.(835-837)cagfs p.Q279fs NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 279 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CTGTGGCCCAGGCAGCCTTAC 0.587 10 80 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652121 36652122 + Frame_Shift_Ins INS - - C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr6:36652121_36652122insC ENST00000405375.1 + 2 478_479 c.243_244insC c.(244-246)cccfs p.P82fs CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.P116fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.P82fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.P82fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 82 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 TTCCCACGGGGCCCCGGCGAGG 0.653 8 23 --- --- --- --- SGK3 23678 broad.mit.edu 37 8 67748054 67748054 + Frame_Shift_Del DEL G G - rs34561918 TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr8:67748054delG ENST00000396596.1 + 9 796 c.582delG c.(580-582)cagfs p.Q194fs SGK3_ENST00000520976.1_Frame_Shift_Del_p.Q194fs|SGK3_ENST00000345714.4_Frame_Shift_Del_p.Q194fs|SGK3_ENST00000522398.1_Frame_Shift_Del_p.Q194fs|SGK3_ENST00000521198.2_Frame_Shift_Del_p.Q194fs|C8orf44-SGK3_ENST00000519289.1_Frame_Shift_Del_p.Q194fs NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 194 Protein kinase. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) AAGTGTTACAGAAAAAAATAG 0.289 19 48 --- --- --- --- LINC00963 100506190 broad.mit.edu 37 9 132259654 132259654 + RNA DEL G G - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr9:132259654delG ENST00000419300.3 + 0 200 ggggcggggaggggggcggtg 0.697 2 4 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCT rs138084841 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:21805466_21805467insCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGG c.(1285-1287)ggg>gAGGgg p.428_429insE SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insE NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 3 3 --- --- --- --- TYSND1 219743 broad.mit.edu 37 10 71905929 71905931 + In_Frame_Del DEL CAG CAG - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:71905929_71905931delCAG ENST00000287078.6 - 1 411_413 c.412_414delCTG c.(412-414)ctgdel p.L138del TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 138 proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CCGGGCAGCTCAGCAGCAGCAGC 0.739 2 4 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89720700 89720709 + Frame_Shift_Del DEL AGGAAACCTC AGGAAACCTC - TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr10:89720700_89720709delAGGAAACCTC ENST00000371953.3 + 8 2208_2217 c.851_860delAGGAAACCTC c.(850-861)gaggaaacctcafs p.EETS284fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 284 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.S287fs*8(1)|p.S287fs*4(1)|p.W274_F341del(1)|p.S287fs*1(1)|p.S287*(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CCAGGACCAGAGGAAACCTCAGAAAAAGTA 0.300 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 13 33 --- --- --- --- RP11-161I6.2 0 broad.mit.edu 37 18 2089458 2089459 + RNA INS - - C rs115165417 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr18:2089458_2089459insC ENST00000579097.1 - 0 310 ccCATTCACTGCCCCCCCACCC 0.520 4 2 --- --- --- --- C21orf58 54058 broad.mit.edu 37 21 47721985 47721986 + In_Frame_Ins INS - - TGG rs144223236 by1000genomes TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 173c1518-6bcb-4e25-a119-de32dab91286 c919f230-5d67-44e2-b154-1839ec548f56 g.chr21:47721985_47721986insTGG ENST00000291691.7 - 8 2032_2033 c.896_897insCCA c.(895-897)cat>caCCAt p.299_299H>HH C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000472607.1_5'UTR NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 299 Poly-His. p.H299_A300insH(3) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) GCCACACAGCAtggtggtggtg 0.708 3 5 --- --- --- ---