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 DMXL1 1657 broad.mit.edu 37 5 118485427 118485427 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:118485427C>A ENST00000311085.8 + 18 3985 c.3905C>A c.(3904-3906)cCt>cAt p.P1302H DMXL1_ENST00000539542.1_Missense_Mutation_p.P1302H NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1302 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GCATTCGATCCTTCAGTGGAT 0.438000 51 20 2.76378e-25 3.52335e-25 1 1 0 PSMB1 5689 broad.mit.edu 37 6 170862291 170862291 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:170862291C>G ENST00000262193.6 - 1 138 c.40G>C c.(40-42)Gac>Cac p.D14H NM_002793.3 NP_002784.1 P20618 PSB1_HUMAN proteasome (prosome, macropain) subunit, beta type, 1 14 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|interspecies interaction between organisms|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|S phase of mitotic cell cycle|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) ATCCCCAAGTCTCTGCCAGGA 0.597000 7 19 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51329189 51329189 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:51329189G>A ENST00000326856.4 - 6 760 c.631C>T c.(631-633)Ccc>Tcc p.P211S KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000598239.1_Missense_Mutation_p.P212S|KLK15_ENST00000416184.1_Missense_Mutation_p.P127S|KLK15_ENST00000596931.1_3'UTR NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 212 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) CAGACCAGGGGTCCCCCAGAG 0.552000 33 19 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129284333 129284333 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:129284333C>A ENST00000393239.1 - 25 4549 c.4371G>T c.(4369-4371)gaG>gaT p.E1457D PLXND1_ENST00000324093.4_Missense_Mutation_p.E1457D Q9Y4D7 PLXD1_HUMAN plexin D1 1457 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TGGTGTAGTACTCCAGCTTGC 0.632000 67 54 2.69673e-31 3.60435e-31 1 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140755960 140755960 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:140755960C>A ENST00000517434.1 + 1 2310 c.2310C>A c.(2308-2310)ttC>ttA p.F770L PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCTGATTTTCCCCCAGCCCA 0.517000 80 30 3.89792e-41 5.39262e-41 1 1 0 TTN 7273 broad.mit.edu 37 2 179403929 179403929 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:179403929C>T ENST00000589042.1 - 353 98957 c.98733G>A c.(98731-98733)aaG>aaA p.K32911K TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.K24038K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.K30343K|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.K23846K|TTN_ENST00000591111.1_Silent_p.K31270K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.K23971K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31270 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) TAACAGAACTCTTGGTTACAT 0.458000 11 35 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114276414 114276414 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:114276414C>A ENST00000357077.4 + 38 6693 c.6640C>A c.(6640-6642)Ccg>Acg p.P2214T ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2181T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2181 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) AGCCGGCTCTCCGTGTGGCAG 0.517000 50 74 1.07234e-20 1.31834e-20 1 1 0 KIAA0930 23313 broad.mit.edu 37 22 45601541 45601541 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:45601541C>T ENST00000336156.5 - 4 449 c.384G>A c.(382-384)ggG>ggA p.G128G KIAA0930_ENST00000251993.7_Silent_p.G133G|KIAA0930_ENST00000391627.2_Silent_p.G94G|KIAA0930_ENST00000443310.3_Silent_p.G110G NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 TGTGAATGTCCCCGCCGTCAG 0.612000 29 43 0 0 1 0 0 RNF183 138065 broad.mit.edu 37 9 116060181 116060181 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:116060181C>A ENST00000478815.1 - 1 1864 c.284G>T c.(283-285)gGc>gTc p.G95V RNF183_ENST00000416588.2_Missense_Mutation_p.G95V|RNF183_ENST00000441031.3_Missense_Mutation_p.G95V|RNF183_ENST00000297894.5_Missense_Mutation_p.G95V Q96D59 RN183_HUMAN ring finger protein 183 95 integral to membrane zinc ion binding lung(1)|prostate(1)|skin(1) 3 CAGCTGATGGCCTTCCAGGAT 0.657000 52 40 3.19069e-20 3.87942e-20 1 1 0 PAH 5053 broad.mit.edu 37 12 103288653 103288653 + Missense_Mutation SNP C C T rs62508695 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:103288653C>T ENST00000553106.1 - 3 684 c.212G>A c.(211-213)cGt>cAt p.R71H PAH_ENST00000307000.2_Missense_Mutation_p.R66H|PAH_ENST00000551988.1_5'UTR NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 71 ACT. catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TTTCTTTAAACGAGAAGGTCT 0.443000 23 89 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113941042 113941042 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:113941042G>C ENST00000441564.3 + 2 1178 c.1009G>C c.(1009-1011)Gcc>Ccc p.A337P PSD4_ENST00000245796.6_Missense_Mutation_p.A337P Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTCAGTGGCTGCCGCTGAGGG 0.617000 29 32 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114204677 114204677 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:114204677C>A ENST00000259335.4 - 6 831 c.832G>T c.(832-834)Ggc>Tgc p.G278C KIAA0368_ENST00000338205.5_Missense_Mutation_p.G100C NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 CGAGGATAGCCCATTTTAACA 0.378000 7 14 0.00198382 0.00200195 1 1 0 IMPG1 3617 broad.mit.edu 37 6 76751757 76751757 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:76751757A>G ENST00000369950.3 - 2 343 c.154T>C c.(154-156)Tac>Cac p.Y52H IMPG1_ENST00000369963.3_Intron NM_001282368.1|NM_001563.2 NP_001269297.1|NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 52 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GACATTTTGTACATTTTTTCA 0.358000 59 55 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1441523 1441523 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:1441523G>T ENST00000270349.9 - 3 496 c.369C>A c.(367-369)ttC>ttA p.F123L SLC6A3_ENST00000453492.2_Missense_Mutation_p.F123L NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 123 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CTTCCCTGTTGAACTGGCCGA 0.587000 33 23 6.50621e-10 7.05585e-10 1 1 0 UNC13C 440279 broad.mit.edu 37 15 54803976 54803976 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:54803976A>G ENST00000545554.1 + 23 5405 c.5405A>G c.(5404-5406)cAa>cGa p.Q1802R UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1800R|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1802R Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1802 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AACAATATTCAACAATTGCGG 0.313000 11 5 0 0 1 0 0 TUBA3D 113457 broad.mit.edu 37 2 132235813 132235813 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:132235813A>G ENST00000321253.6 + 2 187 c.80A>G c.(79-81)gAa>gGa p.E27G NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 27 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) TACTGCCTTGAACATGGAATT 0.532000 53 97 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45927519 45927519 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:45927519C>A ENST00000311275.7 - 4 600 c.347G>T c.(346-348)aGa>aTa p.R116I ZMYND8_ENST00000262975.4_Missense_Mutation_p.R116I|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R111I|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R111I|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R91I|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R116I|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R143I|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R136I|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R111I|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R136I|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R116I|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R111I|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R136I NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 116 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CGATGTCAGTCTCAGACACTT 0.502000 36 24 9.17885e-22 1.13859e-21 1 1 0 BACH2 60468 broad.mit.edu 37 6 90661238 90661238 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:90661238G>T ENST00000257749.4 - 7 1294 c.587C>A c.(586-588)gCc>gAc p.A196D BACH2_ENST00000537989.1_Missense_Mutation_p.A196D|BACH2_ENST00000343122.3_Missense_Mutation_p.A196D|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 196 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TACGGGGATGGCGGCGGCCTC 0.602000 53 57 1.86277e-20 2.26987e-20 1 1 0 WDR1 9948 broad.mit.edu 37 4 10084738 10084738 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:10084738C>A ENST00000382452.2 - 10 1386 c.1104G>T c.(1102-1104)gtG>gtT p.V368V WDR1_ENST00000502702.1_Silent_p.V228V|WDR1_ENST00000382451.2_Silent_p.V228V|WDR1_ENST00000499869.2_Silent_p.V368V|WDR1_ENST00000515743.1_5'UTR NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 368 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) TCATCCTGGACACCTGGTTCG 0.602000 18 26 5.03518e-11 5.54775e-11 1 1 0 SMTN 6525 broad.mit.edu 37 22 31491427 31491427 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:31491427G>A ENST00000333137.7 + 12 1989 c.1771G>A c.(1771-1773)Gtc>Atc p.V591I SMTN_ENST00000347557.2_Missense_Mutation_p.V591I|SMTN_ENST00000358743.1_Missense_Mutation_p.V591I|SMTN_ENST00000404574.1_Missense_Mutation_p.V190I NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 591 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GGATGAAGGAGTCTTGGACAA 0.582000 24 26 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3742336 3742336 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:3742336C>A ENST00000378230.3 - 18 2674 c.2350G>T c.(2350-2352)Gac>Tac p.D784Y NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 784 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 TTGCAGTGGTCACATCTTGTC 0.507000 45 32 1.61004e-24 2.02909e-24 1 1 0 LRTM2 654429 broad.mit.edu 37 12 1940231 1940231 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:1940231G>A ENST00000543818.1 + 4 1040 c.198G>A c.(196-198)gtG>gtA p.V66V CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000299194.1_Silent_p.V66V|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.V66V|CACNA2D4_ENST00000588077.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 66 LRRNT. integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CCCCAGACGTGCCCGCAGCCA 0.642000 94 79 0 0 1 0 0 CNNM3 26505 broad.mit.edu 37 2 97482025 97482025 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:97482025C>A ENST00000305510.3 + 1 39 c.11C>A c.(10-12)gCg>gAg p.A4E CNNM3_ENST00000377060.3_Missense_Mutation_p.A4E NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 4 ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 ATGGCGGCGGCGGTAGCTGCG 0.761000 5 4 0.248553 0.248553 1 1 0 SHD 56961 broad.mit.edu 37 19 4280064 4280064 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:4280064G>A ENST00000543264.2 + 1 1467 c.4G>A c.(4-6)Gcc>Acc p.A2T SHD_ENST00000599689.1_Missense_Mutation_p.A2T NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 2 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCCAAATGGCCAAGTGGCT 0.682000 8 1 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 3 20 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131521341 131521341 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:131521341C>G ENST00000423981.1 + 2 1806 c.1696C>G c.(1696-1698)Cag>Gag p.Q566E AMER3_ENST00000321420.4_Missense_Mutation_p.Q566E NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 ACCCAGCAGGCAGGAGCTGTG 0.692000 19 26 0 0 1 0 0 ZNF774 342132 broad.mit.edu 37 15 90897897 90897897 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:90897897G>C ENST00000354377.3 + 2 191 c.5G>C c.(4-6)tGg>tCg p.W2S ZNF774_ENST00000558115.1_Intron|ZNF774_ENST00000379090.5_Missense_Mutation_p.W2S NM_001004309.2 NP_001004309.2 Q6NX45 ZN774_HUMAN zinc finger protein 774 2 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TTGATAATGTGGCTGGGGACT 0.483000 10 11 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73064405 73064405 + RNA SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:73064405C>T ENST00000429829.1 - 0 8183 NR_001564.2 CAATTGTGCACCTTGATTGTC 0.453000 28 6 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127821519 127821519 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:127821519G>A ENST00000316724.5 - 8 1099 c.688C>T c.(688-690)Ctg>Ttg p.L230L BIN1_ENST00000393040.3_Silent_p.L199L|BIN1_ENST00000348750.4_Silent_p.L199L|BIN1_ENST00000393041.3_Silent_p.L199L|BIN1_ENST00000357970.3_Silent_p.L230L|BIN1_ENST00000409400.1_Silent_p.L199L|BIN1_ENST00000346226.3_Silent_p.L199L|BIN1_ENST00000351659.3_Silent_p.L230L|BIN1_ENST00000376113.2_Silent_p.L199L|BIN1_ENST00000352848.3_Silent_p.L199L|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000259238.4_Silent_p.L199L NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 230 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CTGTTCCACAGGGACGGCAGC 0.652000 51 48 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4153858 4153858 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:4153858G>T ENST00000404826.2 + 25 3914 c.3775G>T c.(3775-3777)Ggg>Tgg p.G1259W SDK1_ENST00000389531.3_Missense_Mutation_p.G1259W NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1259 Fibronectin type-III 6. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAACGCCGTCGGGGCTGGGCC 0.642000 26 21 2.44723e-14 2.81432e-14 1 1 0 KRT83 3889 broad.mit.edu 37 12 52709714 52709714 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:52709714C>A ENST00000293670.3 - 7 1287 c.1225G>T c.(1225-1227)Gcc>Tcc p.A409S AC121757.1_ENST00000594763.1_Intron NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 409 Coil 2.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CTGTAGGTGGCGATCTCGATA 0.597000 62 68 1.98135e-44 2.75493e-44 1 1 0 SNX14 57231 broad.mit.edu 37 6 86227735 86227735 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:86227735T>C ENST00000314673.3 - 22 2315 c.2139A>G c.(2137-2139)ctA>ctG p.L713L SNX14_ENST00000369627.2_Silent_p.L704L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Silent_p.L660L|SNX14_ENST00000513865.1_Silent_p.L432L|SNX14_ENST00000505648.1_Silent_p.L661L NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 713 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) CCTCTTTCATTAGTTTTCCAG 0.254000 45 55 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1064299 1064299 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:1064299G>T ENST00000264930.5 - 19 2549 c.2506C>A c.(2506-2508)Caa>Aaa p.Q836K NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 836 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCCTGGTTTTGCGGAAACGAG 0.672000 15 29 2.23348e-06 2.31745e-06 1 1 0 ZNF668 79759 broad.mit.edu 37 16 31073488 31073488 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:31073488C>T ENST00000538906.1 - 3 1545 c.761G>A c.(760-762)tGc>tAc p.C254Y ZNF668_ENST00000539836.3_Missense_Mutation_p.C277Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C277Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.C254Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C254Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.C254Y NM_001172668.1 NP_001166139 Q96K58 ZN668_HUMAN zinc finger protein 668 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGGCCGGGCAGCGGTAGGG 0.697000 35 39 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14307612 14307612 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:14307612G>A ENST00000378053.3 - 2 797 c.541C>T c.(541-543)Cgc>Tgc p.R181C MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R181C|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 181 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TCATCCAAGCGTAGTTCTTCT 0.458000 23 145 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135376027 135376027 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:135376027C>G ENST00000354042.4 - 13 2054 c.1365G>C c.(1363-1365)tgG>tgC p.W455C C7orf73_ENST00000422968.1_Intron NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 455 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 GGAAGTCCTTCCACGTGATGA 0.498000 34 46 0 0 1 0 0 GEN1 348654 broad.mit.edu 37 2 17962140 17962140 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:17962140A>C ENST00000381254.2 + 14 1875 c.1661A>C c.(1660-1662)cAg>cCg p.Q554P GEN1_ENST00000317402.7_Missense_Mutation_p.Q554P|SMC6_ENST00000402989.1_Intron NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 554 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTGGCTATACAGCAAATTAAA 0.363000 Homologous recombination 33 2 0 0 1 0 0 BARHL2 343472 broad.mit.edu 37 1 91178154 91178154 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:91178154C>A ENST00000370445.4 - 3 920 c.879G>T c.(877-879)gtG>gtT p.V293V NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 293 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) ACTCCAGGCCCACCGCTGTCT 0.617000 17 19 9.16793e-09 9.76969e-09 1 1 0 ZNF653 115950 broad.mit.edu 37 19 11609127 11609127 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:11609127C>T ENST00000585656.1 - 2 238 c.239G>A c.(238-240)aGc>aAc p.S80N ZNF653_ENST00000293771.5_Silent_p.K109K|ZNF653_ENST00000593191.1_5'UTR TCCGCTTTGGCTTTTTGGGGA 0.597000 138 514 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11199772 11199772 + Splice_Site SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:11199772A>C ENST00000304623.8 - 11 1952 c.1763T>G c.(1762-1764)aTa>aGa p.I588R CTNND2_ENST00000458100.2_Splice_Site_p.I155R|CTNND2_ENST00000359640.2_Splice_Site_p.I588R|CTNND2_ENST00000511377.1_Splice_Site_p.I497R|CTNND2_ENST00000503622.1_Splice_Site_p.I251R|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 588 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTGTCTCCTTATCTGAAAGAG 0.448000 20 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179593726 179593726 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:179593726C>A ENST00000589042.1 - 65 19263 c.19039G>T c.(19039-19041)Gcc>Tcc p.A6347S TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A5103S|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A6030S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6030 Ig-like 44. 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) TGAAGTGTGGCCACACTGTCC 0.413000 17 15 1.02788e-11 1.15324e-11 1 1 0 PKNOX2 63876 broad.mit.edu 37 11 125221258 125221258 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:125221258C>A ENST00000542175.1 + 4 280 c.5C>A c.(4-6)tCc>tAc p.S2Y PKNOX2_ENST00000298282.9_Silent_p.V19V|PKNOX2_ENST00000530517.1_Intron Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 0 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CGCAGAATGTCCCGCCCCCAC 0.657000 11 14 1.08611e-07 1.14414e-07 1 1 0 ZDBF2 57683 broad.mit.edu 37 2 207170202 207170202 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:207170202C>T ENST00000374423.3 + 5 1336 c.950C>T c.(949-951)tCt>tTt p.S317F NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 317 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GACATGCCTTCTAATAAAGGA 0.368000 8 15 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6828657 6828657 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:6828657G>T ENST00000304076.2 + 12 1211 c.1117G>T c.(1117-1119)Gtc>Ttc p.V373F VAV1_ENST00000596764.1_Missense_Mutation_p.V341F|VAV1_ENST00000539284.1_Missense_Mutation_p.V276F|VAV1_ENST00000599806.1_Missense_Mutation_p.V318F|VAV1_ENST00000602142.1_Missense_Mutation_p.V373F NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 373 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CGTGAACGAGGTCAAGCGAGA 0.632000 33 520 1.36615e-20 1.67209e-20 1 1 0 HUNK 30811 broad.mit.edu 37 21 33297057 33297057 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:33297057C>T ENST00000270112.2 + 2 899 c.539C>T c.(538-540)gCc>gTc p.A180V NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 180 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 CTGCACCGGGCCGGGGTGGTC 0.612000 59 66 0 0 1 0 0 LPGAT1 9926 broad.mit.edu 37 1 212002548 212002548 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:212002548C>A ENST00000366997.4 - 2 317 c.91G>T c.(91-93)Gtt>Ttt p.V31F LPGAT1_ENST00000366996.1_Missense_Mutation_p.V31F|LPGAT1_ENST00000488600.1_5'UTR NM_014873.2 NP_055688.1 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 31 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) GGAATAGCAACCAGGTTGTTG 0.463000 108 141 2.66069e-56 3.8148e-56 1 1 0 FCRL4 83417 broad.mit.edu 37 1 157557731 157557731 + Silent SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:157557731A>G ENST00000271532.1 - 4 621 c.486T>C c.(484-486)aaT>aaC p.N162N FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 162 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GATAATTGCCATTGTTATTTG 0.308000 13 14 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88530508 88530508 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:88530508C>T ENST00000552810.1 - 6 696 c.353G>A c.(352-354)tGc>tAc p.C118Y CEP290_ENST00000309041.7_Missense_Mutation_p.C118Y NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 118 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TTCAAGTTGGCAAATTTCATT 0.338000 20 38 0 0 1 0 0 MAP10 54627 broad.mit.edu 37 1 232942439 232942439 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:232942439G>T ENST00000418460.1 + 1 1797 c.1670G>T c.(1669-1671)aGt>aTt p.S557I NM_019090.2 NP_061963.2 microtubule-associated protein 10 CCTGTGACAAGTCCTGCTCAT 0.413000 21 62 3.62473e-10 3.94645e-10 1 1 0 CPNE3 8895 broad.mit.edu 37 8 87568404 87568404 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:87568404T>G ENST00000521271.1 + 16 1491 c.1329T>G c.(1327-1329)aaT>aaG p.N443K CPNE3_ENST00000198765.4_Missense_Mutation_p.N443K NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 443 VWFA. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 CTATAGTTAATGCCTCCAGGC 0.458000 62 63 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157874068 157874068 + Splice_Site SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:157874068C>A ENST00000389413.3 - 10 1661 c.1558G>T c.(1558-1560)Gtt>Ttt p.V520F PTPRN2_ENST00000389418.4_Splice_Site_p.V549F|PTPRN2_ENST00000409483.1_Splice_Site_p.V511F|PTPRN2_ENST00000404321.2_Splice_Site_p.V572F|PTPRN2_ENST00000389416.4_Splice_Site_p.V532F NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 549 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GGTCCGAGAACCCTGGAAGGG 0.473000 49 44 1.05386e-31 1.4154e-31 1 1 0 SREBF1 6720 broad.mit.edu 37 17 17719174 17719174 + Splice_Site SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:17719174C>G ENST00000355815.4 - 13 2642 c.2473G>C c.(2473-2475)Gtg>Ctg p.V825L SREBF1_ENST00000261646.5_Splice_Site_p.V795L|SREBF1_ENST00000395757.1_Splice_Site_p.V541L|SREBF1_ENST00000338854.5_Splice_Site_p.V795L NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 795 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 AAGAGAGCACCTGGGTTCCCG 0.627000 8 21 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115596934 115596934 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:115596934C>G ENST00000361384.2 - 8 3766 c.2849G>C c.(2848-2850)gGt>gCt p.G950A DCLRE1A_ENST00000369305.1_Missense_Mutation_p.G950A NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 950 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) GTATTTCCCACCACACTTCTT 0.373000 Other identified genes with known or suspected DNA repair function 43 43 0 0 1 0 0 C6orf62 81688 broad.mit.edu 37 6 24716501 24716501 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:24716501T>G ENST00000378119.4 - 2 2348 c.181A>C c.(181-183)Aat>Cat p.N61H C6orf62_ENST00000540769.1_Missense_Mutation_p.N3H|C6orf62_ENST00000378102.3_Missense_Mutation_p.N32H NM_030939.4 NP_112201.1 Q9GZU0 CF062_HUMAN chromosome 6 open reading frame 62 61 intracellular endometrium(2)|kidney(3)|large_intestine(2)|lung(3) 10 TCATAATTATTTGTCATGACT 0.398000 34 34 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139751262 139751262 + Missense_Mutation SNP C C A rs142680518 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:139751262C>A ENST00000445819.1 + 17 2108 c.2058C>A c.(2056-2058)gaC>gaA p.D686E MAMDC4_ENST00000317446.2_Missense_Mutation_p.D607E|MAMDC4_ENST00000485732.1_3'UTR Q6UXC1 AEGP_HUMAN MAM domain containing 4 686 MAM 4. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CTGACCACGACCACACCACAG 0.647000 12 16 4.36969e-10 4.74817e-10 1 1 0 SAMD14 201191 broad.mit.edu 37 17 48195665 48195665 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:48195665C>T ENST00000330175.4 - 3 387 c.70G>A c.(70-72)Gcc>Acc p.A24T SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.A24T NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 24 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 TCCAGTCTGGCCGTCTCTGGC 0.662000 95 83 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16883004 16883004 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:16883004A>G ENST00000377833.4 - 61 9771 c.9706T>C c.(9706-9708)Ttt>Ctt p.F3236L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3236 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAACCACAAAACGTTCCAGCC 0.368000 20 21 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211327 72211327 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:72211327G>C ENST00000340726.3 - 9 1420 c.781C>G c.(781-783)Ccg>Gcg p.P261A EYA1_ENST00000303824.7_Missense_Mutation_p.P255A|EYA1_ENST00000388743.2_Missense_Mutation_p.P260A|EYA1_ENST00000419131.1_Missense_Mutation_p.P256A|EYA1_ENST00000388741.2_Missense_Mutation_p.P227A|EYA1_ENST00000388740.3_Missense_Mutation_p.P228A|EYA1_ENST00000388742.4_Missense_Mutation_p.P261A NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 261 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CCAGATGGCGGTTCTTGAAGC 0.453000 51 78 0 0 1 0 0 MORC3 23515 broad.mit.edu 37 21 37721694 37721694 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:37721694C>A ENST00000400485.1 + 9 1167 c.1091C>A c.(1090-1092)aCt>aAt p.T364N MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 364 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 TTCGACTATACTAATGAGTAC 0.328000 17 20 1.99824e-07 2.09701e-07 1 1 0 ACTL7B 10880 broad.mit.edu 37 9 111618174 111618174 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:111618174C>A ENST00000374667.3 - 1 1065 c.37G>T c.(37-39)Gct>Tct p.A13S NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 13 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TCACCCTGAGCCGTGCCCAGG 0.652000 7 94 3.09899e-07 3.246e-07 1 1 0 ARHGAP15 55843 broad.mit.edu 37 2 143959730 143959730 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:143959730C>T ENST00000409869.1 + 4 370 c.193C>T c.(193-195)Cag>Tag p.Q65* ARHGAP15_ENST00000295095.6_Nonsense_Mutation_p.Q65* Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 65 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) GAATCATTCACAGCATATCTT 0.299000 25 53 0 0 1 0 0 DPF3 8110 broad.mit.edu 37 14 73137957 73137957 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:73137957C>G ENST00000541685.1 - 9 973 c.961G>C c.(961-963)Gac>Cac p.D321H DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.D331H|DPF3_ENST00000556509.1_Intron NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 149 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GTTGACGTGTCACTTTCTGAC 0.562000 48 49 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31088322 31088322 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:31088322A>G ENST00000394979.2 + 1 1100 c.677A>G c.(676-678)gAg>gGg p.E226G ZNF646_ENST00000300850.5_Missense_Mutation_p.E226G O15015 ZN646_HUMAN zinc finger protein 646 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GGGGGCCAGGAGCCCACCCAG 0.602000 39 42 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85598394 85598394 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:85598394C>G ENST00000322366.6 - 66 10771 c.10364G>C c.(10363-10365)aGa>aCa p.R3455T WDFY3_ENST00000295888.4_Missense_Mutation_p.R3472T Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3472 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATGGTGTCGTCTTTCTGTGAG 0.468000 35 71 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58893494 58893494 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:58893494G>C ENST00000343597.3 + 4 2115 c.1924G>C c.(1924-1926)Gat>Cat p.D642H FAM111B_ENST00000411426.1_Missense_Mutation_p.D612H|FAM111B_ENST00000529618.1_Missense_Mutation_p.D612H NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 642 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 GCTTAGTTATGATACTTGTTT 0.413000 35 41 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62146695 62146695 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:62146695C>A ENST00000261517.5 - 85 11296 c.11223G>T c.(11221-11223)caG>caT p.Q3741H VPS13C_ENST00000249837.3_Missense_Mutation_p.Q3698H NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3741 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TCACTGATGACTGCTTCATCA 0.398000 112 135 1.37143e-49 1.94111e-49 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129636975 129636975 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:129636975T>C ENST00000421865.2 + 26 3853 c.3804T>C c.(3802-3804)tcT>tcC p.S1268S NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1268 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CAGGTTTCTCTACATATAATC 0.438000 62 58 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068085 9068085 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9068085G>A ENST00000397910.4 - 3 19564 c.19361C>T c.(19360-19362)gCg>gTg p.A6454V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6456 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A6454V(2)|p.A6454E(2)|p.A2087V(1)|p.A2087E(1) 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 CTGTGATGTCGCCCTATGAGG 0.498000 91 433 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2168842 2168842 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:2168842G>A ENST00000262304.4 - 4 572 c.364C>T c.(364-366)Ctg>Ttg p.L122L PKD1_ENST00000423118.1_Silent_p.L122L NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 122 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTCCCACTCAGGTTTCTGCAG 0.682000 8 38 0 0 1 0 0 ENTHD2 146705 broad.mit.edu 37 17 79207838 79207838 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:79207838C>G ENST00000300714.3 - 5 375 c.318G>C c.(316-318)ggG>ggC p.G106G ENTHD2_ENST00000374769.2_5'UTR NM_144679.2 NP_653280.1 ENTH domain containing 2 GATCTGGGGGCCCTGCAAAAG 0.677000 32 29 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177098267 177098267 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:177098267G>A ENST00000393643.2 + 28 3805 c.3553G>A c.(3553-3555)Gaa>Aaa p.E1185K WDR17_ENST00000508596.1_Missense_Mutation_p.E1170K|WDR17_ENST00000507824.2_Missense_Mutation_p.E1184K|WDR17_ENST00000280190.4_Missense_Mutation_p.E1209K NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1209 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCTTTCTGAGGAATTGGATGC 0.363000 21 48 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18622501 18622501 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:18622501C>A ENST00000379989.3 + 13 1742 c.1457C>A c.(1456-1458)gCc>gAc p.A486D CDKL5_ENST00000379996.3_Missense_Mutation_p.A486D|CDKL5_ENST00000463994.1_3'UTR NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 486 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) AGGACCAAGGCCAAAAGCCAT 0.532000 65 11 3.8688e-20 4.69358e-20 1 1 0 MAVS 57506 broad.mit.edu 37 20 3845324 3845324 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:3845324G>T ENST00000428216.2 + 6 1175 c.1047G>T c.(1045-1047)ttG>ttT p.L349F MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.L208F NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 349 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CATCCAAATTGCCCATCAACT 0.567000 54 156 1.4374e-25 1.84094e-25 1 1 0 ZXDA 7789 broad.mit.edu 37 X 57936038 57936038 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:57936038G>A ENST00000358697.4 - 1 1029 c.817C>T c.(817-819)Ctg>Ttg p.L273L NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 273 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 TGCCCGCACAGCGCCTCGGGG 0.711000 7 2 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93667528 93667528 + Translation_Start_Site SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:93667528G>A ENST00000334652.5 + 0 1300 CCDC18_ENST00000401026.3_Missense_Mutation_p.A260T|CCDC18_ENST00000343253.7_Missense_Mutation_p.A260T|CCDC18_ENST00000557479.1_Missense_Mutation_p.A378T|CCDC18_ENST00000338949.4_Missense_Mutation_p.A59T Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AAAAAAAGTGGCTGAAAAACT 0.308000 17 17 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48269225 48269225 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:48269225T>C ENST00000225964.5 - 31 2169 c.2051A>G c.(2050-2052)gAg>gGg p.E684G NM_000088.3 NP_000079 P02452 CO1A1_HUMAN collagen, type I, alpha 1 684 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CACACCACGCTCGCCAGGGAA 0.642000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 19 23 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048854 6048854 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:6048854G>T ENST00000316650.5 - 1 117 c.81C>A c.(79-81)ttC>ttA p.F27L NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCAACTCTGGAAGTTGGGGA 0.572000 64 5 7.75977e-34 1.04985e-33 1 1 0 NRP2 8828 broad.mit.edu 37 2 206631519 206631519 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:206631519C>T ENST00000360409.3 + 15 3208 c.2417C>T c.(2416-2418)gCt>gTt p.A806V NRP2_ENST00000357118.4_Missense_Mutation_p.A806V|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000412873.2_Missense_Mutation_p.A806V|NRP2_ENST00000272849.3_Missense_Mutation_p.A806V|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000357785.5_Missense_Mutation_p.A806V NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 806 angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CCCATCTCGGCTTTTGCAGGT 0.343000 OREG0015156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 24 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71472154 71472154 + Missense_Mutation SNP G G A rs141401324 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:71472154G>A ENST00000322937.6 + 13 1154 c.1051G>A c.(1051-1053)Gca>Aca p.A351T AMBN_ENST00000449493.2_Missense_Mutation_p.A336T NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 351 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) TGCTCCCCACGCAGGGCTCCT 0.587000 11 40 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46764580 46764580 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:46764580T>C ENST00000394809.4 - 5 1608 c.1493A>G c.(1492-1494)gAa>gGa p.E498G MYLK3_ENST00000536476.1_Missense_Mutation_p.E157G NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 498 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TACCCGGTGTTCAAAAGGAGC 0.602000 46 92 0 0 1 0 0 DCAF8 50717 broad.mit.edu 37 1 160209813 160209813 + Nonsense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:160209813C>A ENST00000368073.3 - 4 831 c.397G>T c.(397-399)Gag>Tag p.E133* DCAF8_ENST00000368074.1_Nonsense_Mutation_p.E133*|DCAF8_ENST00000608310.1_Nonsense_Mutation_p.E287*|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E287*|DCAF8_ENST00000475733.1_Nonsense_Mutation_p.E133*|DCAF8_ENST00000326837.2_Nonsense_Mutation_p.E133*|DCAF8_ENST00000610139.1_Nonsense_Mutation_p.E133* Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 133 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 AGGGCCCGCTCATCATCTGAT 0.612000 46 80 3.21987e-24 4.03947e-24 1 1 0 BEST3 144453 broad.mit.edu 37 12 70070774 70070774 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:70070774G>A ENST00000330891.5 - 7 1015 c.789C>T c.(787-789)ggC>ggT p.G263G BEST3_ENST00000488961.1_Intron|BEST3_ENST00000331471.4_Silent_p.G263G|BEST3_ENST00000553096.1_Silent_p.G157G|BEST3_ENST00000476098.1_Intron NM_001282613.1|NM_032735.2 NP_001269542.1|NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 263 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GCCCTGCGTAGCCTTTGGTGG 0.502000 59 49 0 0 1 0 0 INSL4 3641 broad.mit.edu 37 9 5233806 5233806 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:5233806C>A ENST00000239316.4 + 2 454 c.349C>A c.(349-351)Cgt>Agt p.R117S NM_002195.1 NP_002186.1 Q14641 INSL4_HUMAN insulin-like 4 (placenta) 117 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding p.R117C(1) endometrium(2)|lung(2)|skin(1)|urinary_tract(1) 6 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) GAGAAGTGGACGTCACAGATT 0.383000 29 5 5.60225e-13 6.32401e-13 1 1 0 MMRN1 22915 broad.mit.edu 37 4 90856744 90856744 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:90856744A>G ENST00000394980.1 + 7 2232 c.1913A>G c.(1912-1914)cAa>cGa p.Q638R MMRN1_ENST00000508372.1_Missense_Mutation_p.Q380R|MMRN1_ENST00000264790.2_Missense_Mutation_p.Q638R|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 638 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ATGAGTGAGCAACTAAATGAT 0.378000 38 66 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56152722 56152722 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:56152722G>T ENST00000508342.1 - 7 2399 c.2100C>A c.(2098-2100)gcC>gcA p.A700A NEDD4_ENST00000435532.3_Silent_p.A281A|NEDD4_ENST00000338963.2_Silent_p.A628A|NEDD4_ENST00000506154.1_Silent_p.A684A NM_001284338.1 NP_001271267.1 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 700 Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GTGATGGGAAGGCCTGGTTGC 0.423000 11 66 5.50884e-06 5.68388e-06 1 1 0 FBN3 84467 broad.mit.edu 37 19 8176067 8176067 + Splice_Site SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:8176067T>C ENST00000600128.1 - 33 4499 c.4085A>G c.(4084-4086)gAc>gGc p.D1362G FBN3_ENST00000270509.2_Splice_Site_p.D1362G|FBN3_ENST00000601739.1_Splice_Site_p.D1362G Q75N90 FBN3_HUMAN fibrillin 3 1362 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TTCATCCCTGTCTGAGGGGCC 0.637000 35 197 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94343960 94343960 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:94343960T>A ENST00000282020.4 + 10 1644 c.1386T>A c.(1384-1386)ggT>ggA p.G462G GRID2_ENST00000510992.1_Silent_p.G367G NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 462 G -> C (in Ref. 1; AAC39579). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATGTCTTGGGTAAGCCGAAGA 0.383000 33 33 0 0 1 0 0 PNPLA3 80339 broad.mit.edu 37 22 44332964 44332964 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:44332964C>T ENST00000216180.3 + 6 964 c.791C>T c.(790-792)tCa>tTa p.S264L PNPLA3_ENST00000423180.2_Missense_Mutation_p.S260L NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 264 triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) GGCCTGAAGTCATCCTCAGAA 0.602000 23 36 0 0 1 0 0 SIPA1 6494 broad.mit.edu 37 11 65417137 65417137 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:65417137G>C ENST00000394224.3 + 11 2927 c.2631G>C c.(2629-2631)ctG>ctC p.L877L SIPA1_ENST00000534313.1_Silent_p.L877L|SIPA1_ENST00000394227.3_Silent_p.L775L|SIPA1_ENST00000527525.1_Silent_p.L775L NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 877 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 AGACACCCCTGACCCAGGTGA 0.607000 68 65 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55378838 55378838 + Nonstop_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:55378838A>T ENST00000428842.1 - 4 471 c.454T>A c.(454-456)Tga>Aga p.*152R HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000274901.4_Intron|HMGCLL1_ENST00000398661.2_Intron Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 0 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GTGGGATTTCATAAGTACCCT 0.289000 39 32 0 0 1 0 0 UBE2S 27338 broad.mit.edu 37 19 55915730 55915730 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:55915730C>A ENST00000264552.9 - 3 455 c.268G>T c.(268-270)Gcc>Tcc p.A90S UBE2S_ENST00000589978.1_Missense_Mutation_p.R64L NM_014501.2 NP_055316.2 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 90 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity lung(1) 1 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) TCGCCATTGGCGCCCACGTTC 0.617000 32 22 2.37825e-27 3.07446e-27 1 1 0 EFNA1 1942 broad.mit.edu 37 1 155104034 155104034 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:155104034G>A ENST00000368407.3 + 2 830 c.312G>A c.(310-312)ctG>ctA p.L104L EFNA1_ENST00000368406.2_Silent_p.L104L|EFNA1_ENST00000469878.1_3'UTR NM_004428.2 NP_004419.2 P20827 EFNA1_HUMAN ephrin-A1 104 angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading extracellular region|integral to plasma membrane ephrin receptor binding breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1) 5 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) CGGAGAAGCTGTCTGAGAAGT 0.582000 22 41 0 0 1 0 0 TRAJ29 28726 broad.mit.edu 37 14 22982966 22982966 + RNA SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:22982966T>A ENST00000390508.1 + 0 46 GGCACAAGACTTTCTGTGATT 0.423000 50 77 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336381 126336381 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:126336381C>T ENST00000394329.3 + 5 6276 c.6263C>T c.(6262-6264)aCt>aTt p.T2088I FAT4_ENST00000335110.5_Missense_Mutation_p.T386I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2088 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATTGAGTACACTCTGCTGAAC 0.403000 97 91 0 0 1 0 0 PEX3 8504 broad.mit.edu 37 6 143784110 143784110 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:143784110G>A ENST00000367591.4 + 3 326 c.263G>A c.(262-264)aGc>aAc p.S88N NM_003630.2 NP_003621.1 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 88 protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) AATTCCGAGAGCCTCACAGCT 0.358000 38 33 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110489565 110489565 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:110489565G>A ENST00000378402.5 + 53 9133 c.9029G>A c.(9028-9030)tGc>tAc p.C3010Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3010 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) CTCCAGGATTGCTTTCCTGTA 0.413000 HNSCC(38;0.096) 31 25 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67147961 67147961 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:67147961A>T ENST00000371037.4 + 15 1301 c.1224A>T c.(1222-1224)agA>agT p.R408S SGIP1_ENST00000237247.6_Missense_Mutation_p.R412S|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 408 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 TGGGACAAAGAGCAACTCCAC 0.512000 26 179 0 0 1 0 0 MRPL3 11222 broad.mit.edu 37 3 131208827 131208827 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:131208827G>T ENST00000264995.3 - 5 713 c.566C>A c.(565-567)cCa>cAa p.P189Q MRPL3_ENST00000425847.2_Missense_Mutation_p.P216Q|MRPL3_ENST00000506946.1_5'UTR NM_007208.3 NP_009139.1 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 189 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 CAAATTACCTGGTTTAATTGC 0.363000 11 17 1.61879e-10 1.76595e-10 1 1 0 HECW1 23072 broad.mit.edu 37 7 43503285 43503285 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:43503285C>G ENST00000395891.2 + 14 3283 c.2678C>G c.(2677-2679)gCa>gGa p.A893G HECW1_ENST00000453890.1_Missense_Mutation_p.A859G NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CGAACCATTGCAACAGAGAGG 0.498000 51 73 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60635046 60635046 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:60635046C>G ENST00000278853.5 + 1 12 c.12C>G c.(10-12)ggC>ggG p.G4G NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 4 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGGCAGGAGGCTCAGCCACGA 0.667000 32 31 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50658876 50658876 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:50658876T>C ENST00000439308.2 - 16 4404 c.3912A>G c.(3910-3912)tcA>tcG p.S1304S TUBGCP6_ENST00000248846.5_Silent_p.S1304S|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1304 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGCTGAGCGCTGACTGGGACG 0.682000 15 26 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 7 37 0 0 1 0 0 ACBD4 79777 broad.mit.edu 37 17 43220992 43220992 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:43220992G>A ENST00000431281.1 + 12 1479 c.1010G>A c.(1009-1011)aGc>aAc p.S337N ACBD4_ENST00000321854.8_3'UTR|ACBD4_ENST00000591859.1_Missense_Mutation_p.S337N|ACBD4_ENST00000398322.3_3'UTR|ACBD4_ENST00000592162.1_3'UTR|ACBD4_ENST00000586346.1_Missense_Mutation_p.S337N NM_001135704.1 NP_001129176.1 Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 0 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 TGTGCCCTGAGCCTTCCTAGG 0.542000 66 0 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878038 150878038 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:150878038C>G ENST00000422024.1 - 3 1352 c.1227G>C c.(1225-1227)ggG>ggC p.G409G ASB10_ENST00000420175.2_Silent_p.G364G|ASB10_ENST00000377867.3_Silent_p.G349G|ASB10_ENST00000275838.1_Silent_p.G364G|ASB10_ENST00000434669.1_Silent_p.G409G NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 364 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGGGAGGGCCCCTGGCCAGA 0.682000 15 15 0 0 1 0 0 MAPK12 6300 broad.mit.edu 37 22 50694610 50694610 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:50694610C>G ENST00000215659.8 - 7 838 c.523G>C c.(523-525)Gcc>Ccc p.A175P MAPK12_ENST00000395780.1_Missense_Mutation_p.A85P|MAPK12_ENST00000497036.1_5'UTR NM_002969.3 NP_002960.2 P53778 MK12_HUMAN mitogen-activated protein kinase 12 175 Protein kinase. cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction mitochondrion|nucleoplasm ATP binding|magnesium ion binding|MAP kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCTGCCTGGCCAGGCCGAAG 0.637000 27 46 0 0 1 0 0 WDR1 9948 broad.mit.edu 37 4 10100674 10100674 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:10100674C>A ENST00000382452.2 - 4 601 c.319G>T c.(319-321)Gac>Tac p.D107Y WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.D107Y NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 107 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CAAGCAATGTCTTTGATCTTC 0.557000 50 79 2.0833e-19 2.51637e-19 1 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209725 140209725 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:140209725G>A ENST00000529310.1 + 1 2163 c.2049G>A c.(2047-2049)tcG>tcA p.S683S PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGGCGTCGGTGGGCGCCG 0.667000 80 30 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166901824 166901824 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:166901824G>A ENST00000423058.2 - 10 1408 c.1391C>T c.(1390-1392)gCa>gTa p.A464V SCN1A_ENST00000375405.3_Missense_Mutation_p.A464V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A464V|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A464V NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 464 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGAGGCAGTTGCCGTTGCTGC 0.448000 53 91 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166903446 166903446 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:166903446A>G ENST00000423058.2 - 9 1228 c.1211T>C c.(1210-1212)gTa>gCa p.V404A SCN1A_ENST00000375405.3_Missense_Mutation_p.V404A|SCN1A_ENST00000409050.1_Missense_Mutation_p.V404A|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.V404A NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 404 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AATGACCAATACAAAAAATAT 0.398000 60 44 0 0 1 0 0 ACTL7A 10881 broad.mit.edu 37 9 111624682 111624682 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:111624682C>T ENST00000333999.3 + 1 80 c.80C>T c.(79-81)gCc>gTc p.A27V NM_006687.2 NP_006678.1 Q9Y615 ACL7A_HUMAN actin-like 7A 27 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CAGACACAGGCCCTCCAGACT 0.617000 50 63 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17277194 17277194 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:17277194T>C ENST00000544301.1 + 7 1448 c.1035T>C c.(1033-1035)cgT>cgC p.R345R VIM_ENST00000224237.5_Silent_p.R345R NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 345 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCCAGATGCGTGAAATGGAAG 0.483000 17 43 0 0 1 0 0 ZNF141 7700 broad.mit.edu 37 4 367619 367619 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:367619C>A ENST00000240499.7 + 4 1542 c.1393C>A c.(1393-1395)Cac>Aac p.H465N ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 465 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 ACGGTTCTCACACCTGAATAA 0.333000 49 50 1.47857e-17 1.76661e-17 1 1 0 ARHGAP31 57514 broad.mit.edu 37 3 119128361 119128361 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:119128361C>A ENST00000264245.4 + 11 2196 c.1664C>A c.(1663-1665)gCa>gAa p.A555E NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 555 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 CCTAAGAAGGCAGGTCTTGAG 0.517000 14 29 1.05317e-09 1.13767e-09 1 1 0 VGLL4 9686 broad.mit.edu 37 3 11600188 11600188 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:11600188C>G ENST00000273038.3 - 6 1080 c.715G>C c.(715-717)Gac>Cac p.D239H VGLL4_ENST00000430365.2_Missense_Mutation_p.D245H|VGLL4_ENST00000424529.2_Missense_Mutation_p.D155H|VGLL4_ENST00000451674.2_Missense_Mutation_p.D159H|VGLL4_ENST00000404339.1_Missense_Mutation_p.D244H|VGLL4_ENST00000413604.1_Missense_Mutation_p.D180H NM_001284391.1|NM_014667.2 NP_001271320.1|NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) GCAAAGTGGTCGTCCACGGAG 0.642000 123 146 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18181198 18181198 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:18181198C>A ENST00000321105.5 - 18 2832 c.2618G>T c.(2617-2619)tGc>tTc p.C873F TOP3A_ENST00000540524.1_Missense_Mutation_p.C403F|TOP3A_ENST00000542570.1_Missense_Mutation_p.C778F NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 873 2 X 27 AA approximate repeats. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 GCCTGGTGGGCATCCCAGGGA 0.642000 57 55 2.14255e-21 2.65177e-21 1 1 0 B4GALT1 2683 broad.mit.edu 37 9 33166812 33166812 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:33166812A>T ENST00000379731.4 - 1 542 c.356T>A c.(355-357)gTg>gAg p.V119E B4GALT1_ENST00000535206.1_Missense_Mutation_p.V119E NM_001497.3 NP_001488.2 P15291 B4GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 119 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) GGTGTGGGGCACTGGGACCGA 0.711000 21 33 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48248887 48248887 + Missense_Mutation SNP G G C rs142830864 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:48248887G>C ENST00000394747.1 - 8 1502 c.1153C>G c.(1153-1155)Ctg>Gtg p.L385V ABCC11_ENST00000394748.1_Missense_Mutation_p.L385V|ABCC11_ENST00000356608.2_Missense_Mutation_p.L385V|ABCC11_ENST00000353782.5_Missense_Mutation_p.L385V|ABCC11_ENST00000537808.1_Missense_Mutation_p.L385V NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 385 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) ATACTTGTCAGGCTCTGGACA 0.448000 31 30 0 0 1 0 0 SCFD1 23256 broad.mit.edu 37 14 31119826 31119826 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:31119826C>T ENST00000458591.2 + 9 952 c.725C>T c.(724-726)aCa>aTa p.T242I SCFD1_ENST00000541123.1_Missense_Mutation_p.T57I|SCFD1_ENST00000544052.2_Missense_Mutation_p.T175I|SCFD1_ENST00000396629.2_Missense_Mutation_p.T150I|SCFD1_ENST00000421551.3_Missense_Mutation_p.T183I NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 242 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) AGTCTTTTTACAGGTGATACA 0.289000 23 40 0 0 1 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57989742 57989742 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:57989742G>C ENST00000354947.5 + 4 457 c.441G>C c.(439-441)cgG>cgC p.R147R PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000550465.1_Silent_p.R129R|PIP4K2C_ENST00000540759.2_Silent_p.R147R Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 147 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) CCTACGATCGGACTCTGGTCA 0.522000 52 85 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201016656 201016656 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:201016656C>T ENST00000362061.3 - 37 4766 c.4540G>A c.(4540-4542)Gga>Aga p.G1514R CACNA1S_ENST00000367338.3_Missense_Mutation_p.G1495R NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1514 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CACCTACCTCCTATTGGAGGG 0.547000 18 46 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39804639 39804639 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:39804639C>A ENST00000248668.4 - 1 1337 c.1338G>T c.(1336-1338)agG>agT p.R446S NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 446 Fibronectin type-III. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CGGGCACAGGCCTCTGGGCTG 0.647000 16 39 2.32078e-09 2.49722e-09 1 1 0 KCNS2 3788 broad.mit.edu 37 8 99441294 99441294 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:99441294G>T ENST00000287042.4 + 2 1437 c.1087G>T c.(1087-1089)Gcc>Tcc p.A363S KCNS2_ENST00000521839.1_Missense_Mutation_p.A363S NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 363 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CACCATCCCTGCCTGCTGGTG 0.602000 52 51 4.88482e-21 6.0188e-21 1 1 0 BRF2 55290 broad.mit.edu 37 8 37702487 37702487 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:37702487G>A ENST00000220659.6 - 4 901 c.781C>T c.(781-783)Ccg>Tcg p.P261S BRF2_ENST00000520601.1_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 261 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) GAGGACGCCGGGTAGGGCAGG 0.587000 141 30 0 0 1 0 0 VENTX 27287 broad.mit.edu 37 10 135053570 135053570 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:135053570C>T ENST00000325980.9 + 3 1048 c.537C>T c.(535-537)ggC>ggT p.G179G NM_014468.3 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 179 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) TTGCCAATGGCCTGCAGCTGC 0.647000 22 53 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155158070 155158070 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:155158070C>A ENST00000357232.4 - 25 6368 c.6369G>T c.(6367-6369)tgG>tgT p.W2123C NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTTCACGGGTCCAGTCATGGT 0.378000 58 70 6.3091e-27 8.11801e-27 1 1 0 ANGPT4 51378 broad.mit.edu 37 20 869075 869075 + Missense_Mutation SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:869075T>A ENST00000381922.3 - 3 575 c.473A>T c.(472-474)aAc>aTc p.N158I ANGPT4_ENST00000546022.1_Missense_Mutation_p.N158I NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 158 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TGATGTCTGGTTCAGGAGCTG 0.602000 16 100 0 0 1 0 0 PIDD 55367 broad.mit.edu 37 11 800619 800619 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:800619C>A ENST00000347755.5 - 12 2106 c.1965G>T c.(1963-1965)gaG>gaT p.E655D PIDD_ENST00000411829.2_Missense_Mutation_p.E655D NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 655 apoptosis|signal transduction cytoplasm|nucleus death receptor binding TGTCAGAGGGCTCGGGGCCCC 0.677000 17 1 4.75885e-15 5.49557e-15 1 1 0 MTA2 9219 broad.mit.edu 37 11 62363785 62363785 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:62363785C>G ENST00000278823.2 - 11 1371 c.982G>C c.(982-984)Gac>Cac p.D328H MTA2_ENST00000524902.1_Missense_Mutation_p.D155H|MTA2_ENST00000527204.1_Missense_Mutation_p.D155H NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 328 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 AGTTTGCTGTCTGCTTCAGCA 0.468000 21 23 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54142079 54142079 + Silent SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:54142079A>G ENST00000265572.3 - 4 1218 c.921T>C c.(919-921)gcT>gcC p.A307A OPRK1_ENST00000524278.1_Silent_p.A218A|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.A307A NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 307 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TGGAGAGAGCAGCTGTGCTGT 0.527000 27 28 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7636000 7636000 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:7636000C>A ENST00000340080.4 + 11 2730 c.2309C>A c.(2308-2310)tCt>tAt p.S770Y MIOS_ENST00000405785.1_Missense_Mutation_p.S770Y NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 770 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCAACGAAATCTAAAGTCACA 0.468000 16 134 1.52009e-12 1.70894e-12 1 1 0 PRPH2 5961 broad.mit.edu 37 6 42689673 42689673 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:42689673G>T ENST00000230381.5 - 1 639 c.400C>A c.(400-402)Ctc>Atc p.L134I NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 134 cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) CCGTTCTTGAGCCCTTGGCCC 0.542000 33 43 1.30293e-26 1.6726e-26 1 1 0 MUC16 94025 broad.mit.edu 37 19 9058002 9058002 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9058002G>T ENST00000397910.4 - 3 29647 c.29444C>A c.(29443-29445)gCc>gAc p.A9815D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9817 Ser-rich.|Thr-rich. 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 CCTCACTTTGGCCACCGCTGT 0.458000 73 138 1.08321e-29 1.44079e-29 1 1 0 NBEAP1 606 broad.mit.edu 37 15 20876539 20876539 + RNA SNP T T A rs146180697 by1000genomes TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:20876539T>A ENST00000556948.1 - 0 61 ACCATCAAGGTATTTTGCAAA 0.348000 9 75 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117301499 117301499 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:117301499C>A ENST00000321322.6 - 32 5806 c.5805G>T c.(5803-5805)aaG>aaT p.K1935N DSCAML1_ENST00000527706.1_Missense_Mutation_p.K1665N NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1875 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CATCCTGGGGCTTGGGTGGTG 0.637000 93 126 1.59228e-47 2.23081e-47 1 1 0 DSC1 1823 broad.mit.edu 37 18 28720107 28720107 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:28720107G>A ENST00000257197.3 - 10 1679 c.1418C>T c.(1417-1419)cCt>cTt p.P473L RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P473L NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 473 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTTCACTGGAGGGTGGCATTC 0.473000 52 61 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36365745 36365745 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:36365745G>A ENST00000221891.4 + 10 1510 c.1318G>A c.(1318-1320)Gag>Aag p.E440K APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.E401K|APLP1_ENST00000586861.1_Missense_Mutation_p.E434K NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 440 Heparin-binding (By similarity). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGTGGATCCCGAGAAGGCACA 0.642000 25 26 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55549036 55549036 + Splice_Site SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:55549036T>G ENST00000294383.6 - 58 6883 c.6884A>C c.(6883-6885)cAa>cCa p.Q2295P USP24_ENST00000407756.1_Splice_Site_p.Q2135P NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2295 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CCTAATTCCTTGCTGTCACAA 0.393000 26 6 0 0 1 0 0 ZNF846 162993 broad.mit.edu 37 19 9868990 9868990 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9868990C>T ENST00000397902.2 - 6 1176 c.763G>A c.(763-765)Gtc>Atc p.V255I ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.V126I|ZNF846_ENST00000588267.1_Missense_Mutation_p.V126I NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 TCTTTACAGACATAGGGCTTC 0.393000 47 107 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100610083 100610083 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:100610083G>A ENST00000319509.7 + 10 2568 c.2568G>A c.(2566-2568)gaG>gaA p.E856E RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TGGCCTTGGAGAACGTGGACA 0.577000 25 125 0 0 1 0 0 RCOR3 55758 broad.mit.edu 37 1 211462527 211462527 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:211462527C>T ENST00000367005.4 + 7 695 c.554C>T c.(553-555)aCt>aTt p.T185I RCOR3_ENST00000367006.4_Missense_Mutation_p.T243I|RCOR3_ENST00000452621.2_Missense_Mutation_p.T243I|RCOR3_ENST00000419091.2_Missense_Mutation_p.T243I NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) TAGGGTAATACTGAACAACCT 0.378000 47 71 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607839 84607839 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:84607839G>T ENST00000344803.2 + 4 2501 c.2454G>T c.(2452-2454)ggG>ggT p.G818G NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 ATGACTCAGGGGTGAGACTAG 0.458000 37 60 1.47244e-24 1.8642e-24 1 1 0 TRIM59 286827 broad.mit.edu 37 3 160156689 160156689 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:160156689C>A ENST00000543469.1 - 2 497 c.283G>T c.(283-285)Gtc>Ttc p.V95F RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V95F|TRIM59_ENST00000309784.4_Missense_Mutation_p.V95F Q8IWR1 TRI59_HUMAN tripartite motif containing 59 95 integral to membrane|intracellular zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGGCAGGTGACAATATCTGGA 0.363000 39 58 1.47244e-24 1.8642e-24 1 1 0 CELSR3 1951 broad.mit.edu 37 3 48684347 48684347 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:48684347T>C ENST00000544264.1 - 22 7439 c.7159A>G c.(7159-7161)Agc>Ggc p.S2387G CELSR3_ENST00000164024.4_Missense_Mutation_p.S2382G Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2382 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTATGCTGCTGCTTGTGGGC 0.572000 9 2 0 0 1 0 0 TEX35 84066 broad.mit.edu 37 1 178483197 178483197 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:178483197G>A ENST00000367642.3 + 2 146 c.75G>A c.(73-75)aaG>aaA p.K25K TEX35_ENST00000367643.3_Silent_p.K25K|TEX35_ENST00000367639.1_Silent_p.K33K|TEX35_ENST00000319416.2_Silent_p.K25K|TEX35_ENST00000367641.3_Silent_p.K25K|TEX35_ENST00000258298.2_5'UTR testis expressed 35 TGGAATTGAAGCCAGAGCCGA 0.532000 35 78 0 0 1 0 0 PAPSS2 9060 broad.mit.edu 37 10 89472929 89472929 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:89472929C>G ENST00000361175.4 + 3 612 c.243C>G c.(241-243)gtC>gtG p.V81V PAPSS2_ENST00000427144.2_Silent_p.V85V|PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Silent_p.V81V NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 81 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) GGGACAATGTCCGTCATGGCC 0.517000 77 51 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54911366 54911366 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:54911366G>T ENST00000293373.6 + 12 1224 c.1145G>T c.(1144-1146)tGg>tTg p.W382L NCKAP1L_ENST00000545638.2_Missense_Mutation_p.W332L NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 382 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GAGGTCACCTGGCTGGTTCGC 0.448000 42 43 3.86236e-30 5.14981e-30 1 1 0 OR10A6 390093 broad.mit.edu 37 11 7949365 7949365 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:7949365G>T ENST00000309838.2 - 1 844 c.845C>A c.(844-846)aCa>aAa p.T282K NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGCAGTGGTGTCAGAAGTGA 0.423000 49 8 4.25531e-23 5.31433e-23 1 1 0 CEACAM4 1089 broad.mit.edu 37 19 42132180 42132180 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:42132180T>A ENST00000221954.2 - 2 329 c.219A>T c.(217-219)gcA>gcT p.A73A CEACAM4_ENST00000600925.1_Silent_p.A73A NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 73 Ig-like V-type. integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 GGCTCCCTTCTGCCGTTTTCC 0.493000 87 54 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162865119 162865119 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:162865119A>G ENST00000360534.3 - 22 2500 c.1940T>C c.(1939-1941)tTc>tCc p.F647S DPP4_ENST00000491591.1_5'UTR NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 647 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) TCCACACTTGAACACGCCACT 0.463000 45 51 0 0 1 0 0 LRCH1 23143 broad.mit.edu 37 13 47243194 47243194 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:47243194G>C ENST00000311191.6 + 3 711 c.482G>C c.(481-483)tGc>tCc p.C161S LRCH1_ENST00000389798.3_Missense_Mutation_p.C161S|LRCH1_ENST00000389797.3_Missense_Mutation_p.C161S NM_001164213.1 NP_001157685 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 161 p.C161>?(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) CTGCCTGCCTGCCTGTGTGGT 0.443000 82 107 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51044009 51044009 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:51044009G>T ENST00000399908.2 + 5 1779 c.1063G>T c.(1063-1065)Gac>Tac p.D355Y MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.D620Y|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.D241Y|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.D326Y|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.D355Y|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.D343Y NM_016431.3 NP_057515.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 621 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCGGCATCCAGACGAGCTGGA 0.652000 7 9 0.00198382 0.00200195 1 1 0 NOL6 65083 broad.mit.edu 37 9 33468850 33468850 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:33468850C>A ENST00000379471.2 - 8 1134 c.1047G>T c.(1045-1047)ggG>ggT p.G349G NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Silent_p.G289G Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 349 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGACAAGGAACCCAGTAAACC 0.572000 95 138 1.1777e-47 1.65839e-47 1 1 0 NRBF2 29982 broad.mit.edu 37 10 64913495 64913495 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:64913495G>T ENST00000277746.6 + 4 562 c.381G>T c.(379-381)ctG>ctT p.L127L NRBF2_ENST00000435510.2_Silent_p.L117L NM_030759.3 NP_110386.2 Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 127 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent cytoplasm|nucleoplasm protein binding large_intestine(2)|lung(3)|skin(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) AGAAATGCCTGCCTGAGATTC 0.507000 12 25 1.61879e-10 1.76595e-10 1 1 0 SMO 6608 broad.mit.edu 37 7 128850354 128850354 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:128850354G>A ENST00000249373.3 + 9 1897 c.1617G>A c.(1615-1617)aaG>aaA p.K539K RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 539 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TCTGGACCAAGGCCACGCTGC 0.607000 Mis skin basal cell OREG0018305 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 71 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38649641 38649641 + Splice_Site SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:38649641C>T ENST00000413689.1 - 8 1192 c.e8+1 SCN5A_ENST00000450102.2_Splice_Site|SCN5A_ENST00000414099.2_Splice_Site|SCN5A_ENST00000443581.1_Splice_Site|SCN5A_ENST00000423572.2_Splice_Site|SCN5A_ENST00000455624.2_Splice_Site|SCN5A_ENST00000333535.4_Splice_Site|SCN5A_ENST00000449557.2_Splice_Site|SCN5A_ENST00000425664.1_Splice_Site|SCN5A_ENST00000451551.2_Splice_Site NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTGCCACATACCCAGCGTCAG 0.522000 228 129 0 0 1 0 0 RNF215 200312 broad.mit.edu 37 22 30780398 30780398 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:30780398C>T ENST00000382363.3 - 5 748 c.674G>A c.(673-675)gGc>gAc p.G225D NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 225 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 CTTGGAGAGGCCACAGGTGGT 0.602000 42 45 0 0 1 0 0 SLAMF8 56833 broad.mit.edu 37 1 159802972 159802972 + Splice_Site SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:159802972G>A ENST00000289707.5 + 3 822 c.e3+1 SLAMF8_ENST00000368104.4_Splice_Site|SLAMF8_ENST00000471286.1_Splice_Site NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) CATGAGGCAGGTATGCTAAGG 0.562000 105 62 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157994 26157994 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:26157994G>T ENST00000325250.1 + 2 1079 c.892G>T c.(892-894)Gcc>Tcc p.A298S NM_173699.3 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 298 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 CGTCCCTAGTGCCTTCCCATC 0.522000 12 1 5.16669e-11 5.6813e-11 1 1 0 STAG3L4 64940 broad.mit.edu 37 7 66767776 66767776 + RNA SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:66767776C>T ENST00000416602.2 + 0 169 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) ACGGGCGCGGCGCGCCTCTCC 0.637000 14 24 0 0 1 0 0 DUSP13 51207 broad.mit.edu 37 10 76867962 76867962 + Translation_Start_Site SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:76867962G>A ENST00000491677.2 - 0 209 DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000372702.3_Missense_Mutation_p.T52M|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607009.1_5'UTR NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GTTGTTTGCCGTGGCCCTGGG 0.662000 21 39 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497669 1497669 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:1497669G>C ENST00000421627.2 + 2 944 c.810G>C c.(808-810)aaG>aaC p.K270N NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 349 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACGACGTCAAGTGCTCGGCCT 0.672000 65 7 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42845396 42845396 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:42845396C>A ENST00000398585.3 - 9 926 c.866G>T c.(865-867)cGc>cTc p.R289L TMPRSS2_ENST00000332149.5_Missense_Mutation_p.R252L|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.R252L NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 252 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CCTGCTCTGGCGGCTTGAGTT 0.687000 T """ERG, ETV1, ETV4, ETV5""" prostate 5 12 3.45872e-05 3.54214e-05 1 1 0 OTUD6A 139562 broad.mit.edu 37 X 69282757 69282757 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:69282757A>T ENST00000338352.2 + 1 417 c.383A>T c.(382-384)gAg>gTg p.E128V NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 128 autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 AAGCGCGAGGAGGAGGAGAAG 0.627000 6 1 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8609325 8609325 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:8609325G>A ENST00000338257.8 - 14 1647 c.1380C>T c.(1378-1380)gtC>gtT p.V460V NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 460 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CGTCGTCCAAGACGCTCATGA 0.657000 35 115 0 0 1 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926316 106926316 + RNA SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:106926316T>A ENST00000434710.1 - 0 305 TAGTATGTGCTACCACCATCC 0.493000 329 163 0 0 1 0 0 NANOS3 342977 broad.mit.edu 37 19 13988397 13988397 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:13988397G>A ENST00000397555.2 + 2 278 c.278G>A c.(277-279)tGt>tAt p.C93Y NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_Missense_Mutation_p.C112Y NM_001098622.2 NP_001092092.1 P60323 NANO3_HUMAN nanos homolog 3 (Drosophila) 93 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GACTACGTGTGTCCCCAGTGC 0.647000 30 27 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182403985 182403985 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:182403985A>T ENST00000410087.3 - 12 1472 c.1372T>A c.(1372-1374)Ttt>Att p.F458I CERKL_ENST00000374970.2_Missense_Mutation_p.F389I|CERKL_ENST00000374969.2_Missense_Mutation_p.F345I|CERKL_ENST00000409440.3_Missense_Mutation_p.F440I|CERKL_ENST00000339098.5_Missense_Mutation_p.F484I NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 484 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) ACAAATGGAAAATTGAACTAA 0.353000 26 29 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149482090 149482090 + RNA SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:149482090G>A ENST00000378016.2 + 0 2878 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGTCCACCAGGCACGGTGCT 0.627000 22 17 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024154 55024154 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:55024154C>A ENST00000324000.3 + 3 2347 c.313C>A c.(313-315)Ctt>Att p.L105I NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 105 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.L105I(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GCAAGAAATTCTTCAGCATGT 0.318000 24 21 5.35047e-06 5.53082e-06 1 1 0 FGFR3 2261 broad.mit.edu 37 4 1803564 1803564 + Missense_Mutation SNP C C T rs121913482 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:1803564C>T ENST00000340107.4 + 7 998 c.742C>T c.(742-744)Cgc>Tgc p.R248C FGFR3_ENST00000260795.2_Missense_Mutation_p.R248C|FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 248 R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCCCACAGAGCGCTCCCCGCA 0.741000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 6 37 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35700720 35700720 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:35700720A>C ENST00000440995.2 + 16 2249 c.2249A>C c.(2248-2250)aAa>aCa p.K750T SPEF2_ENST00000509059.1_Missense_Mutation_p.K750T|SPEF2_ENST00000356031.3_Missense_Mutation_p.K755T|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 755 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAAAGAAAAAAAGCACAAAAA 0.383000 12 38 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5775984 5775984 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:5775984A>C ENST00000317254.3 + 1 62 c.14A>C c.(13-15)aAt>aCt p.N5T TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CTAACACTGAATAAAACAGAC 0.358000 29 1 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88961372 88961372 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:88961372G>T ENST00000375961.2 - 3 758 c.544C>A c.(544-546)Cct>Act p.P182T ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P182T|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.P182T|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.P15T|ZCCHC6_ENST00000277141.6_5'UTR Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 182 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 GGCTTCCTAGGTCTGGACCTC 0.428000 55 85 7.50695e-29 9.91349e-29 1 1 0 RCCD1 91433 broad.mit.edu 37 15 91500713 91500713 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:91500713G>A ENST00000394258.2 + 3 739 c.537G>A c.(535-537)gtG>gtA p.V179V RCCD1_ENST00000555155.1_Silent_p.V179V|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000556618.1_Silent_p.V179V NM_001017919.1|NM_033544.2 NP_001017919.1|NP_291022.2 A6NED2 RCCD1_HUMAN RCC1 domain containing 1 179 RLPLLPCARAYVSPRAPFYRPLAPELRARQLELGAEHALLL DAAGQVFSWGGGR -> GGAAGGLVRLRFLRLRAGAGLRTR APGAQPQSAAGGRRHLPRERELELHRFRDP (in Ref. 3; AAI13827). breast(1)|kidney(1)|large_intestine(2) 4 Lung NSC(78;0.0987)|all_lung(78;0.175) Lung(145;0.189) CTGGCCAGGTGTTCTCCTGGG 0.706000 3 5 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13644837 13644837 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:13644837G>A ENST00000011619.3 - 6 1110 c.1052C>T c.(1051-1053)gCa>gTa p.A351V RANBP9_ENST00000539980.1_Missense_Mutation_p.A122V NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 351 axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ATCTATCTGTGCCTGGATTTT 0.413000 73 90 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100124558 100124558 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:100124558C>A ENST00000375202.2 + 42 5221 c.3869C>A c.(3868-3870)tCt>tAt p.S1290Y CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000357054.1_Intron|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.S1290Y coiled-coil domain containing 180 GCCTGTGGGTCTCGGGGCAGC 0.587000 91 100 2.33925e-33 3.15713e-33 1 1 0 OTUD7A 161725 broad.mit.edu 37 15 31776332 31776332 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:31776332A>G ENST00000382902.1 - 11 2059 c.1967T>C c.(1966-1968)tTc>tCc p.F656S OTUD7A_ENST00000307050.4_Missense_Mutation_p.F649S Q8TE49 OTU7A_HUMAN OTU domain containing 7A 649 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CTCCTCGTGGAACTGGTGCCG 0.682000 17 32 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75523669 75523669 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:75523669T>A ENST00000339365.2 + 9 1317 c.1155T>A c.(1153-1155)tcT>tcA p.S385S SEC24C_ENST00000345254.4_Silent_p.S385S|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.S266S NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 385 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) CTTGCACATCTGACATGGCTA 0.542000 17 9 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79801895 79801895 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:79801895T>C ENST00000331483.4 - 11 1742 c.1520A>G c.(1519-1521)gAa>gGa p.E507G P4HB_ENST00000439918.2_Missense_Mutation_p.E463G|P4HB_ENST00000576390.1_Intron NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 507 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GTATTACAGTTCATCTTTCAC 0.612000 193 130 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73914079 73914079 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:73914079C>A ENST00000586717.1 - 21 2550 c.2277G>T c.(2275-2277)gaG>gaT p.E759D FBF1_ENST00000319129.5_Missense_Mutation_p.E758D|FBF1_ENST00000389570.4_Missense_Mutation_p.E759D A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 758 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GGTGCGAGGCCTCCACGCGGG 0.657000 24 43 1.42536e-11 1.58949e-11 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33576746 33576746 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:33576746A>T ENST00000504830.1 - 19 3720 c.3385T>A c.(3385-3387)Ttg>Atg p.L1129M ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L1044M NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1129 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GAAGATGACAAGCCAGAACCA 0.483000 HNSCC(64;0.19) 30 68 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30863342 30863342 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:30863342C>A ENST00000251071.5 - 18 3628 c.2878G>T c.(2878-2880)Ggt>Tgt p.G960C CAPRIN2_ENST00000417045.1_3'UTR|CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.G910C|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.G626C NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 960 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CCAGAGTCACCACTGTTAAAG 0.502000 153 149 7.93641e-56 1.13495e-55 1 1 0 OR5T1 390155 broad.mit.edu 37 11 56043760 56043760 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:56043760G>T ENST00000313033.2 + 1 732 c.646G>T c.(646-648)Ggc>Tgc p.G216C NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) CTACTTTGTGGGCTCTATTGA 0.408000 76 113 1.14856e-27 1.49178e-27 1 1 0 SEPT1 1731 broad.mit.edu 37 16 30392504 30392504 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:30392504C>A ENST00000321367.3 - 7 688 c.643G>T c.(643-645)Gtc>Ttc p.V215F SEPT1_ENST00000571393.1_Missense_Mutation_p.V168F|SEPT1_ENST00000605106.1_Missense_Mutation_p.V173F NM_052838.4 NP_443070.5 Q8WYJ6 SEPT1_HUMAN septin 1 168 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1) 24 Colorectal(24;0.193) TTGCCAATGACTGGGATGATG 0.582000 56 92 4.96213e-28 6.46014e-28 1 1 0 FN1 2335 broad.mit.edu 37 2 216240428 216240428 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:216240428G>A ENST00000354785.4 - 37 6270 c.5901C>T c.(5899-5901)ggC>ggT p.G1967G FN1_ENST00000359671.1_Silent_p.G1876G|FN1_ENST00000432072.2_Silent_p.G1877G|FN1_ENST00000346544.3_Silent_p.G1876G|FN1_ENST00000345488.5_Silent_p.G1876G|FN1_ENST00000421182.1_Silent_p.G1786G|FN1_ENST00000323926.6_Silent_p.G1967G|FN1_ENST00000357009.2_Silent_p.G1876G|FN1_ENST00000356005.4_Silent_p.G1786G|FN1_ENST00000336916.4_Silent_p.G1876G|FN1_ENST00000357867.4_Silent_p.G1786G|FN1_ENST00000443816.1_Silent_p.G1786G|FN1_ENST00000446046.1_Silent_p.G1876G P02751 FINC_HUMAN fibronectin 1 1966 Binds to FBLN1.|Fibronectin type-III 15.|Heparin-binding 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTAGTCAGTGCCTGGTTGTA 0.438000 14 28 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2596782 2596782 + Splice_Site SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:2596782G>T ENST00000358864.1 + 15 1887 c.e15-1 TMC2_ENST00000496948.1_Splice_Site NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 tccctctctAGCCTTCATATG 0.468000 32 43 2.70662e-09 2.90672e-09 1 1 0 MYO1B 4430 broad.mit.edu 37 2 192255219 192255219 + Splice_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:192255219G>C ENST00000392318.3 + 18 2229 c.e18+1 MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GACCAGCCAGGTAAGAAATTC 0.378000 16 20 0 0 1 0 0 ATXN3 4287 broad.mit.edu 37 14 92555107 92555107 + Translation_Start_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:92555107G>C ENST00000502250.1 - 0 175 ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000532032.1_Missense_Mutation_p.L148V|ATXN3_ENST00000340660.6_Missense_Mutation_p.L93V|ATXN3_ENST00000503767.1_Missense_Mutation_p.L133V|ATXN3_ENST00000429774.2_Missense_Mutation_p.L133V|ATXN3_ENST00000545170.1_Missense_Mutation_p.L148V|ATXN3_ENST00000393287.5_Missense_Mutation_p.L148V NM_001164780.1 NP_001158252.1 P54252 ATX3_HUMAN ataxin 3 cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) AAAAGTGCAAGATATGTATCT 0.323000 127 144 0 0 1 0 0 SH2B2 10603 broad.mit.edu 37 7 101944428 101944428 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:101944428G>C ENST00000536178.1 + 2 768 c.723G>C c.(721-723)ggG>ggC p.G241G SH2B2_ENST00000306803.8_Silent_p.G198G O14492 SH2B2_HUMAN SH2B adaptor protein 2 198 PH. blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 AACGCGAGGGGGCGCTGCGCT 0.746000 7 5 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296649 28296649 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:28296649G>T ENST00000284987.5 - 8 2637 c.2516C>A c.(2515-2517)cCc>cAc p.P839H AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 839 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TGGTTTAGTGGGGTCTGTTGC 0.448000 56 99 1.78197e-24 2.24065e-24 1 1 0 UCK2 7371 broad.mit.edu 37 1 165860506 165860506 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:165860506C>T ENST00000367879.4 + 3 606 c.303C>T c.(301-303)atC>atT p.I101I UCK2_ENST00000372212.4_Silent_p.I101I NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 101 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TCAAAGAAATCACTGAAGGGA 0.413000 37 94 0 0 1 0 0 KCNJ13 3769 broad.mit.edu 37 2 233635823 233635823 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:233635823C>T ENST00000233826.3 - 2 389 c.250G>A c.(250-252)Gat>Aat p.D84N KCNJ13_ENST00000410029.1_Missense_Mutation_p.D84N|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000409779.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000373563.4_Intron NM_002242.4 NP_002233.2 O60928 IRK13_HUMAN potassium inwardly-rectifying channel, subfamily J, member 13 84 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1) 9 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908) Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617) AGTTCCAGATCACCATTCATC 0.473000 57 42 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013158 73013158 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:73013158G>A ENST00000308744.6 + 4 1296 c.1198G>A c.(1198-1200)Gac>Aac p.D400N NPFFR2_ENST00000358749.3_Missense_Mutation_p.D298N|NPFFR2_ENST00000395999.1_Missense_Mutation_p.D301N|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 400 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GATGCTCTCAGACTACGCTGA 0.478000 49 49 0 0 1 0 0 RAB36 9609 broad.mit.edu 37 22 23495282 23495282 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:23495282A>G ENST00000263116.2 + 5 528 c.488A>G c.(487-489)gAg>gGg p.E163G RAB36_ENST00000341989.4_Missense_Mutation_p.E141G NM_004914.2 NP_004905.2 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 163 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) TTTGAAATTGAGCGCTTTGAG 0.507000 69 98 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121279123 121279123 + Splice_Site SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:121279123G>A ENST00000297848.3 + 25 3343 c.e25+1 COL14A1_ENST00000432943.2_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GCAAAAGAAGGTAAAAGAATA 0.353000 76 88 0 0 1 0 0 NAT9 26151 broad.mit.edu 37 17 72769175 72769175 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:72769175C>A ENST00000357814.3 - 4 267 c.194G>T c.(193-195)tGt>tTt p.C65F NAT9_ENST00000583757.1_Missense_Mutation_p.C64F|NAT9_ENST00000582524.1_Missense_Mutation_p.C65F|NAT9_ENST00000578822.1_Missense_Mutation_p.C70F|NAT9_ENST00000582870.1_Missense_Mutation_p.C69F|NAT9_ENST00000583476.1_Missense_Mutation_p.C65F|NAT9_ENST00000581136.1_Missense_Mutation_p.C65F|NAT9_ENST00000580632.1_Missense_Mutation_p.C64F|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000580301.1_Missense_Mutation_p.C64F NM_015654.3 NP_056469.2 Q9BTE0 NAT9_HUMAN N-acetyltransferase 9 (GCN5-related, putative) 65 N-acetyltransferase. protein complex N-acetyltransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3) 8 AATGAAGGTACACTCTGAGGA 0.567000 29 15 1.99505e-19 2.41506e-19 1 1 0 CLEC14A 161198 broad.mit.edu 37 14 38723983 38723983 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:38723983C>G ENST00000342213.2 - 1 1591 c.1245G>C c.(1243-1245)atG>atC p.M415I NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 415 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CCAGTACTGTCATGGTCAAGA 0.557000 33 29 0 0 1 0 0 PIK3R2 5296 broad.mit.edu 37 19 18273235 18273235 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:18273235A>G ENST00000593731.1 + 9 1588 c.1028A>G c.(1027-1029)aAa>aGa p.K343R PIK3R2_ENST00000222254.8_Missense_Mutation_p.K343R O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 343 SH2 1. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 GTGAACGAGAAACTCCGGGAC 0.627000 17 38 0 0 1 0 0 KCNJ14 3770 broad.mit.edu 37 19 48965180 48965180 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:48965180G>A ENST00000391884.1 + 1 675 c.199G>A c.(199-201)Ggt>Agt p.G67S KCNJ14_ENST00000342291.2_Missense_Mutation_p.G67S Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 67 voltage-gated potassium channel complex inward rectifier potassium channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) CGTAAACCTGGGTGGCCAGGG 0.677000 17 11 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27556790 27556790 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:27556790C>G ENST00000356183.4 - 2 291 c.276G>C c.(274-276)gtG>gtC p.V92V GTF3C1_ENST00000561623.1_Silent_p.V92V NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 92 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCTCCAAAGCCACCGGGTCCC 0.423000 37 39 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11143966 11143966 + Splice_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:11143966G>C ENST00000358026.2 + 26 3831 c.3547G>C c.(3547-3549)Gac>Cac p.D1183H SMARCA4_ENST00000590574.1_Splice_Site_p.D1183H|SMARCA4_ENST00000344626.4_Splice_Site_p.D1183H|SMARCA4_ENST00000589677.1_Splice_Site_p.D1183H|SMARCA4_ENST00000429416.3_Splice_Site_p.D1183H|SMARCA4_ENST00000413806.3_Splice_Site_p.D1183H|SMARCA4_ENST00000541122.2_Splice_Site_p.D1183H|SMARCA4_ENST00000444061.3_Splice_Site_p.D1183H|SMARCA4_ENST00000450717.3_Splice_Site_p.D1183H NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1183 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTTCCCCCAGGACCTGCAAGC 0.627000 """F, N, Mis""" NSCLC 107 48 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5693379 5693379 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:5693379G>C ENST00000360614.3 - 17 2790 c.2633C>G c.(2632-2634)gCc>gGc p.A878G LONP1_ENST00000593119.1_Missense_Mutation_p.A814G|LONP1_ENST00000585374.1_Missense_Mutation_p.A764G|LONP1_ENST00000590729.1_Missense_Mutation_p.A748G|LONP1_ENST00000540670.2_Missense_Mutation_p.A682G NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 878 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCCAGTCATGGCCAGATTCTG 0.652000 59 11 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192275843 192275843 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:192275843G>T ENST00000392318.3 + 27 3065 c.2818G>T c.(2818-2820)Gag>Tag p.E940* MYO1B_ENST00000339514.4_Nonsense_Mutation_p.E882*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.E940*|MYO1B_ENST00000439065.2_Nonsense_Mutation_p.E185*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.E911* NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 940 myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TATTTATGAAGAGAAACTAGA 0.318000 13 75 0.000151284 0.000153792 1 1 0 TNFRSF1B 7133 broad.mit.edu 37 1 12251959 12251959 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:12251959G>T ENST00000376259.3 + 4 525 c.436G>T c.(436-438)Ggc>Tgc p.G146C TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.G146C NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 146 apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity p.G146R(1) central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GTGCCGCCCGGGCTTCGGCGT 0.682000 58 5 6.75472e-32 9.09416e-32 1 1 0 EIF3B 8662 broad.mit.edu 37 7 2404033 2404033 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:2404033G>A ENST00000360876.4 + 6 1082 c.1026G>A c.(1024-1026)tgG>tgA p.W342* EIF3B_ENST00000397011.2_Nonsense_Mutation_p.W342* NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 342 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) ATGTGCGTTGGTCTCCTAAGG 0.463000 97 95 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102647046 102647046 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:102647046G>T ENST00000279441.4 - 6 933 c.897C>A c.(895-897)agC>agA p.S299R NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 299 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CCCTCAGAGTGCTGATGGCAT 0.438000 30 51 2.47316e-13 2.80325e-13 1 1 0 SLC12A1 6557 broad.mit.edu 37 15 48561931 48561931 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:48561931C>A ENST00000396577.3 + 19 2587 c.2372C>A c.(2371-2373)aCa>aAa p.T791K SLC12A1_ENST00000558405.1_Missense_Mutation_p.T791K|SLC12A1_ENST00000380993.3_Missense_Mutation_p.T791K NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 791 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GCTCCCTTGACAGAGATTGAG 0.408000 13 16 4.3838e-07 4.58306e-07 1 1 0 PTK2B 2185 broad.mit.edu 37 8 27297834 27297834 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:27297834G>C ENST00000397501.1 + 26 2723 c.1915G>C c.(1915-1917)Gag>Cag p.E639Q PTK2B_ENST00000338238.4_Missense_Mutation_p.E639Q|PTK2B_ENST00000420218.2_Missense_Mutation_p.E639Q|PTK2B_ENST00000346049.5_Missense_Mutation_p.E639Q|PTK2B_ENST00000517339.1_Missense_Mutation_p.E639Q|PTK2B_ENST00000397497.4_Missense_Mutation_p.E385Q|PTK2B_ENST00000544172.1_Missense_Mutation_p.E639Q NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 639 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CGGGGTGCTGGAGAAAGGAGA 0.607000 28 31 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141747614 141747614 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:141747614C>A ENST00000475668.2 + 22 2582 c.2528C>A c.(2527-2529)gCc>gAc p.A843D MGAM_ENST00000549489.2_Missense_Mutation_p.A843D O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 843 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTTATCATTGCCCTAGATGAG 0.438000 10 16 3.27435e-08 3.45591e-08 1 1 0 ERCC2 2068 broad.mit.edu 37 19 45860917 45860917 + Silent SNP C C G rs148469762 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:45860917C>G ENST00000391945.4 - 13 1355 c.1278G>C c.(1276-1278)ccG>ccC p.P426P ERCC2_ENST00000391944.3_Silent_p.P348P NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 426 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGGCAATGGTCGGGGTTCTGT 0.642000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 12 52 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30672193 30672193 + Splice_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:30672193G>C ENST00000534862.1 + 9 985 c.e9-1 HCK_ENST00000518730.1_Splice_Site|HCK_ENST00000375862.2_Splice_Site|HCK_ENST00000520553.1_Splice_Site|HCK_ENST00000538448.1_Splice_Site|HCK_ENST00000375852.2_Splice_Site NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTCTGTTCCAGAGGGGAACGA 0.597000 12 26 0 0 1 0 0 P2RY14 9934 broad.mit.edu 37 3 150931787 150931787 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:150931787G>A ENST00000309170.3 - 3 630 c.318C>T c.(316-318)taC>taT p.Y106Y MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Silent_p.Y106Y|MED12L_ENST00000273432.4_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 106 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAATGCTGACGTACATGTTGA 0.458000 38 33 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12939700 12939700 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:12939700G>C ENST00000218032.6 + 2 2628 c.2541G>C c.(2539-2541)ctG>ctC p.L847L TLR8_ENST00000311912.5_Silent_p.L865L NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 847 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TGGCTGCCCTGGCTCACCATT 0.393000 67 9 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414682 138414682 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:138414682A>T ENST00000409968.1 + 24 4505 c.4327A>T c.(4327-4329)Aac>Tac p.N1443Y THSD7B_ENST00000272643.3_Missense_Mutation_p.N1446Y|THSD7B_ENST00000543459.1_Silent_p.I277I|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1415Y thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTGGAACAATAACGAACGAAC 0.418000 30 36 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96277135 96277135 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:96277135C>G ENST00000347108.3 - 6 1291 c.859G>C c.(859-861)Gac>Cac p.D287H DZIP1_ENST00000361156.3_Missense_Mutation_p.D287H|DZIP1_ENST00000376829.2_Missense_Mutation_p.D287H|DZIP1_ENST00000361396.2_Missense_Mutation_p.D287H Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 287 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TTCCACCTGTCAAATAACTTC 0.294000 4 15 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27327365 27327365 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:27327365G>A ENST00000407991.1 - 3 815 c.207C>T c.(205-207)ggC>ggT p.G69G CHRNA2_ENST00000520933.2_Silent_p.G69G|CHRNA2_ENST00000240132.2_Silent_p.G69G NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 69 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) AGCGGTTGTAGCCCCGGAAGA 0.622000 77 9 0 0 1 0 0 CCT3 7203 broad.mit.edu 37 1 156294831 156294831 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:156294831G>C ENST00000295688.3 - 6 634 c.354C>G c.(352-354)caC>caG p.H118Q CCT3_ENST00000472765.2_Missense_Mutation_p.H73Q|CCT3_ENST00000368259.2_Missense_Mutation_p.H80Q|CCT3_ENST00000368261.3_Missense_Mutation_p.H73Q NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 118 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CCACTGTTGGGTGCATCTGCT 0.433000 37 90 0 0 1 0 0 WBSCR22 114049 broad.mit.edu 37 7 73101013 73101013 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:73101013A>G ENST00000423166.2 + 3 250 c.203A>G c.(202-204)gAg>gGg p.E68G WBSCR22_ENST00000464615.1_3'UTR|WBSCR22_ENST00000265758.2_Missense_Mutation_p.E45G|WBSCR22_ENST00000423497.1_Missense_Mutation_p.E45G O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 45 nucleus methyltransferase activity autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1) 13 Lung NSC(55;0.0908)|all_lung(88;0.198) CGAGCATTGGAGCTTCTTTAT 0.483000 86 113 0 0 1 0 0 CLN3 1201 broad.mit.edu 37 16 28493802 28493802 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:28493802C>A ENST00000569430.1 - 13 1721 c.902G>T c.(901-903)gGa>gTa p.G301V CLN3_ENST00000360019.2_Missense_Mutation_p.G301V|CLN3_ENST00000355477.5_Missense_Mutation_p.G253V|CLN3_ENST00000567963.1_Missense_Mutation_p.G301V|CLN3_ENST00000568224.1_Missense_Mutation_p.G223V|CLN3_ENST00000395653.4_Missense_Mutation_p.G201V|CLN3_ENST00000357806.7_Missense_Mutation_p.G202V|CLN3_ENST00000357857.9_Missense_Mutation_p.G247V|CLN3_ENST00000354630.5_Intron|CLN3_ENST00000359984.7_Missense_Mutation_p.G301V|CLN3_ENST00000565316.1_Intron|CLN3_ENST00000357076.5_Missense_Mutation_p.G191V|CLN3_ENST00000535392.1_Missense_Mutation_p.G223V|CLN3_ENST00000333496.9_Missense_Mutation_p.G277V Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 301 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 ACTTACAAGTCCCTGGTTAAT 0.542000 15 102 9.16793e-09 9.76969e-09 1 1 0 ZNF773 374928 broad.mit.edu 37 19 58018245 58018245 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:58018245A>G ENST00000282292.4 + 4 922 c.782A>G c.(781-783)gAc>gGc p.D261G ZNF773_ENST00000598770.1_Missense_Mutation_p.D260G|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 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;0.0254) CGTAATGCTGACCTCATTCAA 0.418000 24 71 0 0 1 0 0 MDFI 4188 broad.mit.edu 37 6 41621214 41621214 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:41621214G>T ENST00000373050.4 + 4 646 c.459G>T c.(457-459)ctG>ctT p.L153L Q99750 MDFI_HUMAN MyoD family inhibitor 214 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTGCGACCTGCCCTGCGACC 0.657000 97 112 3.46703e-50 4.9198e-50 1 1 0 CCDC50 152137 broad.mit.edu 37 3 191074896 191074896 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:191074896C>T ENST00000392455.3 + 2 667 c.69C>T c.(67-69)gtC>gtT p.V23V CCDC50_ENST00000392456.3_Silent_p.V23V NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 23 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) ATTTTGCTGTCCTGGAGGACC 0.398000 28 51 0 0 1 0 0 FPGT 8790 broad.mit.edu 37 1 74670542 74670542 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:74670542G>C ENST00000609362.1 + 4 848 c.811G>C c.(811-813)Gat>Cat p.D271H FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D284H|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron NM_003838.4 NP_003829.3 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 TGTCTACACAGATAGCCTATT 0.368000 25 21 0 0 1 0 0 ACOX3 8310 broad.mit.edu 37 4 8383332 8383332 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:8383332C>T ENST00000356406.5 - 14 1617 c.1540G>A c.(1540-1542)Gcc>Acc p.A514T ACOX3_ENST00000413009.2_Missense_Mutation_p.A514T|ACOX3_ENST00000503233.1_Missense_Mutation_p.A514T NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 514 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 GCTGCCAGGGCGACTTCGGAA 0.468000 27 44 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155615800 155615800 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:155615800G>T ENST00000496455.2 + 3 629 c.294G>T c.(292-294)aaG>aaT p.K98N GMPS_ENST00000295920.7_Intron|GMPS_ENST00000476145.1_3'UTR NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase Glutamine amidotransferase type-1. glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTATTGGCAAGCCTGTTCTTG 0.368000 T MLL AML 152 156 1.09856e-86 1.59162e-86 1 1 0 TANC2 26115 broad.mit.edu 37 17 61278265 61278265 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:61278265G>A ENST00000424789.2 + 5 498 c.494G>A c.(493-495)gGg>gAg p.G165E TANC2_ENST00000389520.4_Missense_Mutation_p.G165E|AC037445.1_ENST00000581421.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 165 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 TGCAGCTATGGGGCTGTTACT 0.468000 127 78 0 0 1 0 0 OR4D1 26689 broad.mit.edu 37 17 56232574 56232574 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:56232574C>G ENST00000268912.5 + 1 81 c.60C>G c.(58-60)acC>acG p.T20T NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTCACAGACCCAAGAGCTCC 0.453000 113 97 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669846 24669846 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:24669846G>C ENST00000376454.3 + 3 433 c.403G>C c.(403-405)Gac>Cac p.D135H KIAA1217_ENST00000376462.1_Missense_Mutation_p.D55H|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D135H|KIAA1217_ENST00000430453.2_Missense_Mutation_p.D56H|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D135H NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 135 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CAGTCTGGGTGACCCGGTCGA 0.502000 13 46 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24723917 24723917 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:24723917C>A ENST00000206765.6 - 13 2164 c.2041G>T c.(2041-2043)Gcc>Tcc p.A681S TGM1_ENST00000544573.1_Missense_Mutation_p.A239S NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 681 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TGCTGCTTGGCCAGCACCTGC 0.627000 62 77 1.7104e-27 2.21629e-27 1 1 0 FBXL7 23194 broad.mit.edu 37 5 15928355 15928355 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:15928355G>A ENST00000504595.1 + 3 965 c.484G>A c.(484-486)Gag>Aag p.E162K FBXL7_ENST00000510662.1_Missense_Mutation_p.E115K|FBXL7_ENST00000329673.7_Missense_Mutation_p.E150K NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 162 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CCTGACGGGCGAGACCATCAA 0.662000 6 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9001859 9001859 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9001859T>C ENST00000397910.4 - 53 40592 c.40389A>G c.(40387-40389)agA>agG p.R13463R MUC16_ENST00000380951.5_Silent_p.R104R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13465 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 AGGCTGGAGTTCTCGAGGTTG 0.488000 8 39 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79571722 79571722 + Missense_Mutation SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:79571722T>A ENST00000372391.2 - 22 4287 c.4282A>T c.(4282-4284)Aac>Tac p.N1428Y DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.N1088Y NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1428 PDZ 3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACGTGGGGGTTGTACTGGGCC 0.667000 31 19 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34085680 34085680 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:34085680G>A ENST00000397527.1 + 26 4159 c.3439G>A c.(3439-3441)Gcc>Acc p.A1147T CEP250_ENST00000342580.4_Missense_Mutation_p.A1091T NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1147 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGCCCAGGAAGCCAAGGCAGC 0.662000 14 10 0 0 1 0 0 MIPOL1 145282 broad.mit.edu 37 14 37777260 37777260 + Splice_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:37777260G>C ENST00000327441.7 + 9 1089 c.e9-1 MIPOL1_ENST00000545536.1_Splice_Site|MIPOL1_ENST00000536774.1_Splice_Site|MIPOL1_ENST00000537471.1_Splice_Site|MIPOL1_ENST00000556451.1_Splice_Site|MIPOL1_ENST00000396294.2_Splice_Site|MIPOL1_ENST00000539062.2_Splice_Site NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) CTTTTTTCTAGGCTAGAAAAT 0.358000 38 56 0 0 1 0 0 UROD 7389 broad.mit.edu 37 1 45480182 45480182 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:45480182C>T ENST00000246337.4 + 7 827 c.708C>T c.(706-708)taC>taT p.Y236Y UROD_ENST00000494399.1_3'UTR NM_000374.4 NP_000365.3 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 236 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) CACTGCCTTACATCCGTGATG 0.542000 Porphyria Cutanea Tarda, Type II OREG0013449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 3 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24910248 24910248 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:24910248A>C ENST00000396432.2 - 9 1062 c.576T>G c.(574-576)aaT>aaG p.N192K ARHGAP21_ENST00000320481.6_5'UTR NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 191 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TATTGCGGGCATTGCCGCTAT 0.463000 6 7 0 0 1 0 0 IMP4 92856 broad.mit.edu 37 2 131103212 131103212 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:131103212G>T ENST00000259239.3 + 5 1087 c.379G>T c.(379-381)Gcc>Tcc p.A127S IMP4_ENST00000409935.1_Missense_Mutation_p.A127S NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 127 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) ACTGGTGCGAGCCTGCAAAGC 0.647000 27 34 1.26454e-06 1.31703e-06 1 1 0 CNTN4 152330 broad.mit.edu 37 3 2908487 2908487 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:2908487G>A ENST00000397461.1 + 7 890 c.506G>A c.(505-507)cGc>cAc p.R169H CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H|CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000358480.3_5'UTR NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 169 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CAGGATAATCGCCGCTTTGTT 0.388000 63 123 0 0 1 0 0 SRSF12 135295 broad.mit.edu 37 6 89808433 89808433 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:89808433G>A ENST00000452027.2 - 5 843 c.650C>T c.(649-651)tCt>tTt p.S217F NM_080743.4 NP_542781.3 Q8WXF0 SRS12_HUMAN serine/arginine-rich splicing factor 12 217 Arg/Ser-rich (RS domain). assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome nucleoplasm nucleotide binding|RNA binding|RS domain binding|unfolded protein binding autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 TATTGAGTCAGAATGTCTTCC 0.398000 76 80 0 0 1 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185278644 185278644 + Splice_Site SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:185278644C>A ENST00000367498.3 - 3 605 c.e3-1 IVNS1ABP_ENST00000367497.1_Splice_Site|IVNS1ABP_ENST00000392007.3_Splice_Site|IVNS1ABP_ENST00000459929.1_Splice_Site NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 ATAAATTTGGCTAGATGATGA 0.299000 22 39 1.40151e-16 1.64954e-16 1 1 0 CELF4 56853 broad.mit.edu 37 18 34852990 34852990 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:34852990G>T ENST00000420428.2 - 7 1333 c.938C>A c.(937-939)aCc>aAc p.T313N CELF4_ENST00000588597.1_Missense_Mutation_p.T302N|CELF4_ENST00000591287.1_Missense_Mutation_p.T312N|CELF4_ENST00000361795.5_Missense_Mutation_p.T311N|CELF4_ENST00000412753.1_Missense_Mutation_p.T312N|CELF4_ENST00000603232.1_Missense_Mutation_p.T312N|CELF4_ENST00000601019.1_Missense_Mutation_p.T311N|CELF4_ENST00000334919.5_Missense_Mutation_p.T303N|CELF4_ENST00000591282.1_Missense_Mutation_p.T313N NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 313 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 TGAGGTTGGGGTCATAGGTGC 0.662000 40 36 6.21074e-16 7.24805e-16 1 1 0 GRIP2 80852 broad.mit.edu 37 3 14563323 14563323 + RNA SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:14563323G>A ENST00000273083.3 - 0 632 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CACCAGCCTGGCCCGGCAGCA 0.672000 14 13 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26236509 26236509 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:26236509T>C ENST00000354667.4 - 5 597 c.429A>G c.(427-429)atA>atG p.I143M HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.I131M NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 143 RRM 2. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 TATCAGTAATTATCTCAATGG 0.368000 T ETV1 prostate 108 94 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102029296 102029296 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:102029296G>T ENST00000251127.6 - 5 568 c.487C>A c.(487-489)Cca>Aca p.P163T NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.P163T|NALCN_ENST00000376196.3_Missense_Mutation_p.P163T NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 163 integral to membrane sodium channel activity|voltage-gated ion channel activity p.P163T(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTGGTCCTTGGCAGTTCAAAT 0.378000 27 36 2.41591e-17 2.8741e-17 1 1 0 HUS1B 135458 broad.mit.edu 37 6 656803 656803 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:656803C>G ENST00000380907.2 - 1 160 c.142G>C c.(142-144)Ggc>Cgc p.G48R EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 48 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) TCGTGGAGGCCGCCGGAACCC 0.667000 14 7 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195968895 195968895 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:195968895C>T ENST00000292823.2 - 8 804 c.632G>A c.(631-633)cGg>cAg p.R211Q PCYT1A_ENST00000431016.1_Missense_Mutation_p.R211Q|PCYT1A_ENST00000419333.1_Missense_Mutation_p.R211Q NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 211 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) ATCATAATCCCGCACAATTCG 0.488000 54 97 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56717578 56717578 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:56717578C>T ENST00000260129.5 + 10 2603 c.2126C>T c.(2125-2127)gCc>gTc p.A709V NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 709 Sufficient for catalytic activity. cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) ATTCAGTTTGCCTTAACAGGA 0.398000 42 56 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695441 247695441 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:247695441C>T ENST00000366487.3 - 2 734 c.373G>A c.(373-375)Gct>Act p.A125T GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron NM_198074.4 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CAGATGGCAGCGTAGCGGTCA 0.562000 25 63 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1168818 1168818 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:1168818C>T ENST00000308624.5 + 8 669 c.540C>T c.(538-540)tcC>tcT p.S180S SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 180 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GTGGGGCCTCCTCTCCCCTCT 0.473000 113 18 0 0 1 0 0 ERCC5 2073 broad.mit.edu 37 13 103510737 103510737 + Missense_Mutation SNP G G A rs146833751 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:103510737G>A ENST00000355739.4 + 6 2064 c.641G>A c.(640-642)cGc>cAc p.R214H ERCC5_ENST00000535557.1_Missense_Mutation_p.R214H|BIVM-ERCC5_ENST00000602836.1_Silent_p.A639A NM_000123.3 NP_000114 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TTCACCAAGCGCAGAAGAACA 0.383000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 20 104 0 0 1 0 0 OXER1 165140 broad.mit.edu 37 2 42990186 42990186 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:42990186G>A ENST00000378661.2 - 1 1215 c.1134C>T c.(1132-1134)ggC>ggT p.G378G NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 378 regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 CGCTCACTGGGCCCTGCCGGC 0.662000 51 2 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101148053 101148053 + Splice_Site SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:101148053G>A ENST00000259455.2 - 11 1990 c.1531C>T c.(1531-1533)Ctc>Ttc p.L511F NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 511 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) ATCTTTATGAGCCTGACAAGA 0.378000 29 45 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76255837 76255837 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:76255837G>A ENST00000529032.1 + 18 3244 c.3244G>A c.(3244-3246)Gct>Act p.A1082T C11orf30_ENST00000524767.1_Missense_Mutation_p.A1097T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A1082T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A1083T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A1083T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A1082T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A984T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A991T Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1082 Gln-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GTCGCTCCCAGCTTCTTCAGA 0.478000 49 55 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19319264 19319264 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:19319264C>T ENST00000461366.1 + 14 1887 c.1672C>T c.(1672-1674)Ctc>Ttc p.L558F NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 558 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 GGGGGCCGGGCTCATGGGCCT 0.692000 8 11 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95712374 95712374 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:95712374T>C ENST00000524717.1 - 5 4493 c.3209A>G c.(3208-3210)aAt>aGt p.N1070S NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 1070 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CCTCGACTGATTCAACCCTGT 0.512000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 27 29 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962143 10962143 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:10962143A>T ENST00000240691.2 - 1 624 c.532T>A c.(532-534)Ttc>Atc p.F178I NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 178 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AACTGTTTGAAAGTACCTGGA 0.378000 26 54 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561389 145561389 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:145561389C>T ENST00000355594.4 + 10 1164 c.1077C>T c.(1075-1077)ggC>ggT p.G359G NM_144698.3 NP_653299.4 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 359 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAAAGCAAGGCTCTAGTCTCC 0.582000 22 30 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102477386 102477386 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:102477386C>T ENST00000260228.2 - 6 845 c.833G>A c.(832-834)gGg>gAg p.G278E MMP20_ENST00000544938.1_5'UTR NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 278 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding p.G278E(1) endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) AGTGGGCTTCCCCAGGAATAC 0.537000 6 50 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120009 103120009 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:103120009C>A ENST00000295269.4 + 3 1280 c.823C>A c.(823-825)Ctt>Att p.L275I NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 275 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CGTTGTGGGGCTTGGAGGGGT 0.388000 22 32 5.35047e-06 5.53082e-06 1 1 0 PALD1 27143 broad.mit.edu 37 10 72293777 72293777 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:72293777G>T ENST00000263563.6 + 8 1238 c.970G>T c.(970-972)Gtc>Ttc p.V324F NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CCTGGGCATGGTCCTGGGCAC 0.701000 15 12 6.72482e-11 7.37993e-11 1 1 0 FAT2 2196 broad.mit.edu 37 5 150925116 150925116 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:150925116C>G ENST00000261800.5 - 9 5584 c.5572G>C c.(5572-5574)Gtc>Ctc p.V1858L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1858 Cadherin 16. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAATGATGACTTGGGCAGGT 0.463000 17 66 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50211048 50211048 + Nonsense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:50211048C>A ENST00000284509.6 - 19 2164 c.2023G>T c.(2023-2025)Gga>Tga p.G675* ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.G675* NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 675 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGTTTGTCTCCTGTTAGGACC 0.343000 33 45 1.90571e-15 2.20998e-15 1 1 0 DOCK9 23348 broad.mit.edu 37 13 99532221 99532221 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:99532221G>T ENST00000376460.1 - 27 2954 c.2874C>A c.(2872-2874)taC>taA p.Y958* DOCK9_ENST00000339416.2_Nonsense_Mutation_p.Y959*|DOCK9_ENST00000448493.2_Nonsense_Mutation_p.Y970*|DOCK9_ENST00000442173.1_Nonsense_Mutation_p.Y958* NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 959 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AAAACCATGAGTACTAAAAGA 0.368000 18 21 2.35188e-11 2.61742e-11 1 1 0 VRTN 55237 broad.mit.edu 37 14 74824202 74824202 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:74824202C>A ENST00000256362.4 + 2 957 c.716C>A c.(715-717)cCt>cAt p.P239H NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 239 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 TACTTTGCCCCTGTGGTGGGG 0.687000 46 76 3.28156e-27 4.23229e-27 1 1 0 EEF1D 1936 broad.mit.edu 37 8 144671790 144671790 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:144671790C>A ENST00000532741.1 - 1 840 c.612G>T c.(610-612)gtG>gtT p.V204V EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Silent_p.V154V|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Silent_p.V154V|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000528610.1_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 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) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GGTGGCAGGCCACCTGGTTTC 0.657000 23 18 3.28513e-13 3.71596e-13 1 1 0 MYCN 4613 broad.mit.edu 37 2 16082801 16082801 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:16082801G>T ENST00000281043.3 + 2 912 c.615G>T c.(613-615)gtG>gtT p.V205V NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 205 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CAGCGCCCGTGCCCGCAGCCC 0.816000 A neuroblastoma 3 2 0.115264 0.115473 1 1 0 GABRR1 2569 broad.mit.edu 37 6 89910940 89910940 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:89910940G>T ENST00000435811.1 - 2 621 c.167C>A c.(166-168)aCa>aAa p.T56K GABRR1_ENST00000454853.2_Missense_Mutation_p.T73K|GABRR1_ENST00000369451.3_5'UTR NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 73 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TTCTGACTTTGTCAGAGGCGA 0.473000 73 105 2.25582e-47 3.15244e-47 1 1 0 MAP3K13 9175 broad.mit.edu 37 3 185198111 185198111 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:185198111G>A ENST00000265026.3 + 13 2927 c.2593G>A c.(2593-2595)Gac>Aac p.D865N MAP3K13_ENST00000535426.1_Missense_Mutation_p.D721N|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D658N|MAP3K13_ENST00000443863.1_Missense_Mutation_p.D721N|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D865N NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 865 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAATACCAGTGACCACTCAAA 0.488000 86 77 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154393911 154393911 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:154393911G>T ENST00000435029.4 + 1 652 c.492G>T c.(490-492)cgG>cgT p.R164R NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 164 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TAAATATACGGGAGGATCCTA 0.388000 19 124 2.89027e-11 3.20367e-11 1 1 0 FLVCR2 55640 broad.mit.edu 37 14 76107313 76107313 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:76107313C>A ENST00000238667.4 + 7 1607 c.1251C>A c.(1249-1251)ggC>ggA p.G417G FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.G212G|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.G132G|FLVCR2_ENST00000553587.1_Intron NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 417 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) TTATGACTGGCTATCTCCCAC 0.532000 35 58 1.57351e-24 1.9876e-24 1 1 0 SDK2 54549 broad.mit.edu 37 17 71426748 71426748 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:71426748C>T ENST00000392650.3 - 12 1485 c.1485G>A c.(1483-1485)cgG>cgA p.R495R SDK2_ENST00000388726.3_Silent_p.R495R NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 495 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGATGCGGGTCCGAGCTGAAA 0.587000 3 21 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19404471 19404471 + Splice_Site SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:19404471T>G ENST00000375267.2 - 104 15326 c.15323A>C c.(15322-15324)aAg>aCg p.K5108T UBR4_ENST00000375254.3_Splice_Site_p.K5108T|UBR4_ENST00000375217.2_Splice_Site_p.K5101T|UBR4_ENST00000543981.1_Splice_Site_p.K772T|UBR4_ENST00000429347.2_Splice_Site_p.K631T|UBR4_ENST00000375226.2_Splice_Site_p.K5084T|UBR4_ENST00000375224.1_Splice_Site_p.K815T|UBR4_ENST00000375225.3_Splice_Site_p.K183T Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 5108 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CCTCCTTACCTTAAACATGTT 0.507000 43 2 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30350069 30350069 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:30350069C>A ENST00000359358.4 - 2 924 c.486G>T c.(484-486)aaG>aaT p.K162N AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.K162N NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 162 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TGTGCAGGATCTTGCTGACCG 0.622000 65 74 2.73361e-28 3.57572e-28 1 1 0 ZSCAN10 84891 broad.mit.edu 37 16 3140433 3140433 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:3140433C>A ENST00000252463.2 - 5 924 c.837G>T c.(835-837)gtG>gtT p.V279V ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Silent_p.V197V NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 279 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CGCCCTCAGCCACTTTGACCT 0.652000 95 135 1.70349e-48 2.40493e-48 1 1 0 NR2F2 7026 broad.mit.edu 37 15 96877679 96877679 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:96877679G>T ENST00000394166.3 + 2 2206 c.817G>T c.(817-819)Gcc>Tcc p.A273S NR2F2_ENST00000394171.2_Missense_Mutation_p.A120S|NR2F2_ENST00000421109.2_Missense_Mutation_p.A140S|NR2F2_ENST00000453270.2_Missense_Mutation_p.A120S NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 273 Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) CCTGGCCGCCGCCGGCCTGCA 0.652000 36 50 4.65686e-17 5.51628e-17 1 1 0 MFN2 9927 broad.mit.edu 37 1 12057360 12057360 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:12057360A>G ENST00000235329.5 + 6 803 c.481A>G c.(481-483)Aac>Gac p.N161D MFN2_ENST00000444836.1_Missense_Mutation_p.N161D NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 161 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TCAGACTGTGAACCAGCTGGC 0.572000 50 4 0 0 1 0 0 FAM53A 152877 broad.mit.edu 37 4 1656734 1656734 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:1656734G>A ENST00000308132.6 - 4 1045 c.853C>T c.(853-855)Cca>Tca p.P285S FAM53A_ENST00000461064.1_Missense_Mutation_p.P285S|FAM53A_ENST00000489363.1_Missense_Mutation_p.P285S|FAM53A_ENST00000472884.2_Missense_Mutation_p.P285S NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 285 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) TCCAAGGATGGGCGTGTCCAC 0.647000 27 54 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057120 9057120 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9057120G>T ENST00000397910.4 - 3 30529 c.30326C>A c.(30325-30327)aCc>aAc p.T10109N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10111 Ser-rich.|Thr-rich. 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 AGAACTGGTGGTTCCCACATT 0.488000 38 186 2.87052e-16 3.37133e-16 1 1 0 PTGES2 80142 broad.mit.edu 37 9 130886051 130886051 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:130886051C>T ENST00000338961.6 - 4 1360 c.616G>A c.(616-618)Ggc>Agc p.G206S PTGES2_ENST00000277462.5_Missense_Mutation_p.G15S|PTGES2_ENST00000483625.1_5'UTR NM_001256335.1|NM_025072.6 NP_001243264.1|NP_079348.1 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 206 cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(2) 4 TACTTATTGCCGAACTCGGTC 0.592000 45 50 0 0 1 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105459055 105459055 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:105459055A>T ENST00000258494.9 - 6 916 c.776T>A c.(775-777)aTa>aAa p.I259K ALDH1L2_ENST00000424857.2_Missense_Mutation_p.I259K NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 259 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 CTGTCCATTTATCTCTGTCCA 0.458000 32 51 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102498707 102498707 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:102498707C>A ENST00000360184.4 + 52 10146 c.9982C>A c.(9982-9984)Ctg>Atg p.L3328M NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3328 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CTGCCTGCTGCTGGGGGAAAG 0.577000 186 115 4.99412e-61 7.19779e-61 1 1 0 PPFIA2 8499 broad.mit.edu 37 12 81688795 81688795 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:81688795G>A ENST00000550584.2 - 23 3039 c.2744C>T c.(2743-2745)gCg>gTg p.A915V PPFIA2_ENST00000550359.2_Missense_Mutation_p.A762V|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A841V|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A915V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A900V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A900V|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A482V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A915V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A816V|PPFIA2_ENST00000541017.1_Missense_Mutation_p.A132V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A915V NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 841 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CACGTACCACGCAGGCATTCC 0.398000 8 28 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19925991 19925991 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:19925991G>C ENST00000295824.9 - 11 2211 c.2050C>G c.(2050-2052)Ctc>Gtc p.L684V EFHB_ENST00000344838.4_Missense_Mutation_p.L554V NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 684 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 AGTGTCCGGAGAGTCTTTTCT 0.393000 46 124 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52183724 52183724 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:52183724C>G ENST00000282588.6 + 8 1309 c.851C>G c.(850-852)tCt>tGt p.S284C NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 284 VWFA. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GATGGAGAGTCTCATGACAAT 0.423000 11 49 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096802 167096802 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:167096802T>G ENST00000361200.2 + 6 2600 c.2434T>G c.(2434-2436)Tgc>Ggc p.C812G DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.C812G|DUSP27_ENST00000271385.5_Missense_Mutation_p.C812G Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 812 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CGCGGAAAGTTGCAGAAGCAA 0.562000 88 51 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17639309 17639309 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:17639309C>A ENST00000377813.1 - 3 2147 c.1844G>T c.(1843-1845)aGc>aTc p.S615I RRBP1_ENST00000246043.4_Missense_Mutation_p.S615I|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Missense_Mutation_p.S185I|RRBP1_ENST00000360807.4_Missense_Mutation_p.S185I Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 615 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 TGCCTCTGGGCTCTGGGCCAC 0.493000 51 98 1.38909e-20 1.69642e-20 1 1 0 GNG4 2786 broad.mit.edu 37 1 235747123 235747123 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:235747123A>G ENST00000391854.2 - 3 469 c.16T>C c.(16-18)Tct>Cct p.S6P GNG4_ENST00000450593.1_Missense_Mutation_p.S6P|GNG4_ENST00000366597.1_Missense_Mutation_p.S6P|GNG4_ENST00000366598.4_Missense_Mutation_p.S6P|GNG4_ENST00000484517.1_5'UTR NM_001098722.1|NM_004485.3 NP_001092192.1|NP_004476.1 P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), gamma 4 6 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) CTGTTATTAGACATGCCCTCT 0.507000 70 156 0 0 1 0 0 EXOC5 10640 broad.mit.edu 37 14 57689135 57689135 + Splice_Site SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:57689135C>A ENST00000413566.2 - 13 1656 c.e13-1 EXOC5_ENST00000340918.7_Splice_Site NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 GATCAGAGAGCTTAAAAACAA 0.308000 22 31 1.96895e-08 2.0861e-08 1 1 0 GRIK2 2898 broad.mit.edu 37 6 102372594 102372594 + Splice_Site SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:102372594G>A ENST00000369138.1 + 12 2357 c.1867G>A c.(1867-1869)Ggt>Agt p.G623S GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Splice_Site_p.G574S|GRIK2_ENST00000413795.1_Splice_Site_p.G623S|GRIK2_ENST00000318991.6_Splice_Site_p.G623S|GRIK2_ENST00000421544.1_Splice_Site_p.G623S NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 623 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CATGCAGCAAGGTATACGATT 0.498000 14 46 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52663442 52663442 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:52663442C>T ENST00000355568.4 - 14 1355 c.1216G>A c.(1216-1218)Gag>Aag p.E406K NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 406 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TGAAGGTACTCAGCAGGCCTT 0.333000 8 14 0 0 1 0 0 NTAN1 123803 broad.mit.edu 37 16 15133844 15133844 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:15133844T>A ENST00000287706.3 - 8 713 c.621A>T c.(619-621)cgA>cgT p.R207R PDXDC1_ENST00000535621.2_Intron NM_001270766.1|NM_173474.3 NP_001257695.1|NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 207 cytoplasm endometrium(1)|large_intestine(4)|lung(3) 8 CTGCTAAAGTTCGCGCAGCAC 0.443000 129 154 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30350105 30350105 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:30350105G>A ENST00000359358.4 - 2 888 c.450C>T c.(448-450)tcC>tcT p.S150S AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.S150S NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 150 BTB. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 CCGTGTCCAGGGACAGGGTCA 0.642000 70 102 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5103373 5103373 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:5103373G>A ENST00000396912.1 + 5 805 c.286G>A c.(286-288)Gac>Aac p.D96N RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Missense_Mutation_p.D96N|RBAK_ENST00000353796.3_Missense_Mutation_p.D96N NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 96 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) AGAAAACGAAGACAAACATTC 0.363000 19 28 0 0 1 0 0 NODAL 4838 broad.mit.edu 37 10 72195635 72195635 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:72195635G>C ENST00000287139.3 - 2 297 c.298C>G c.(298-300)Cct>Gct p.P100A AC022532.1_ENST00000420338.2_3'UTR NM_018055.4 NP_060525.3 Q96S42 NODAL_HUMAN nodal growth differentiation factor 100 growth extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 15 AGGTCCACAGGGCTGGACAGC 0.572000 19 52 0 0 1 0 0 TEAD2 8463 broad.mit.edu 37 19 49863219 49863219 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:49863219G>T ENST00000377214.4 - 1 476 c.114C>A c.(112-114)ggC>ggA p.G38G TEAD2_ENST00000311227.2_Silent_p.G38G|TEAD2_ENST00000598810.1_Silent_p.G38G|TEAD2_ENST00000601519.1_Silent_p.G38G|TEAD2_ENST00000593945.1_Silent_p.G38G|TEAD2_ENST00000539846.1_Intron Q15562 TEAD2_HUMAN TEA domain family member 2 38 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) CTGCATCCGGGCCCCCGTCAC 0.677000 74 32 1.1397e-45 1.58868e-45 1 1 0 INADL 10207 broad.mit.edu 37 1 62240939 62240939 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:62240939G>T ENST00000371158.2 + 7 896 c.782G>T c.(781-783)gGa>gTa p.G261V INADL_ENST00000316485.6_Missense_Mutation_p.G261V NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 261 PDZ 2. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CTAGGTTTTGGAATAGTTGGA 0.413000 61 96 6.70656e-16 7.81017e-16 1 1 0 MTMR3 8897 broad.mit.edu 37 22 30416019 30416019 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:30416019G>T ENST00000333027.3 + 17 2699 c.2371G>T c.(2371-2373)Gtc>Ttc p.V791F MTMR3_ENST00000406629.1_Missense_Mutation_p.V791F|MTMR3_ENST00000351488.3_Missense_Mutation_p.V791F|MTMR3_ENST00000323630.5_Missense_Mutation_p.V655F|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Missense_Mutation_p.V791F NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 791 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TTCCCTGGAGGTCCCTGTGGA 0.537000 45 64 6.4771e-29 8.574e-29 1 1 0 INHBB 3625 broad.mit.edu 37 2 121107164 121107164 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:121107164G>C ENST00000295228.3 + 2 984 c.938G>C c.(937-939)cGc>cCc p.R313P NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 313 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) ATTGACTTCCGCCTCATCGGC 0.632000 71 91 0 0 1 0 0 STX18 53407 broad.mit.edu 37 4 4459161 4459161 + Missense_Mutation SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:4459161T>A ENST00000306200.2 - 4 482 c.419A>T c.(418-420)gAt>gTt p.D140V STX18_ENST00000505286.1_Missense_Mutation_p.D140V NM_016930.2 NP_058626.1 Q9P2W9 STX18_HUMAN syntaxin 18 140 ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) TTTCAAGTAATCTTCAATGAA 0.378000 32 21 0 0 1 0 0 CPSF3L 54973 broad.mit.edu 37 1 1248252 1248252 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:1248252G>A ENST00000540437.1 - 14 1682 c.1227C>T c.(1225-1227)ggC>ggT p.G409G CPSF3L_ENST00000435064.1_Silent_p.G403G|CPSF3L_ENST00000450926.2_Silent_p.G381G|CPSF3L_ENST00000411962.1_Silent_p.G305G|CPSF3L_ENST00000421495.2_Silent_p.G145G|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Silent_p.G374G|CPSF3L_ENST00000419704.1_Silent_p.G302G NM_001256456.1 NP_001243385.1 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like 403 Golgi apparatus|nucleus hydrolase activity endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) GCTCTGCCTGGCCCACCAGCT 0.632000 59 5 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9968097 9968097 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9968097G>A ENST00000264833.4 - 4 607 c.422C>T c.(421-423)gCa>gTa p.A141V OLFM2_ENST00000590841.1_Missense_Mutation_p.A63V NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 141 extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 CCGCGTGTCTGCCTTGTACTG 0.597000 40 146 0 0 1 0 0 PTK6 5753 broad.mit.edu 37 20 62162261 62162261 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:62162261C>T ENST00000217185.2 - 6 879 c.852G>A c.(850-852)ctG>ctA p.L284L PTK6_ENST00000542869.1_Silent_p.L183L NM_005975.3 NP_005966.1 Q13882 PTK6_HUMAN protein tyrosine kinase 6 284 Protein kinase. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) CCGAAACGGGCAGGACTTTCT 0.622000 32 15 0 0 1 0 0 RCSD1 92241 broad.mit.edu 37 1 167653169 167653169 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:167653169C>A ENST00000367854.3 + 2 370 c.39C>A c.(37-39)gaC>gaA p.D13E RCSD1_ENST00000537350.1_Missense_Mutation_p.D13E NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 13 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CCAATGTGGACAACTCGGCGT 0.587000 120 313 2.4537e-52 3.49083e-52 1 1 0 MIER1 57708 broad.mit.edu 37 1 67436628 67436628 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:67436628A>G ENST00000357692.2 + 10 1059 c.802A>G c.(802-804)Aaa>Gaa p.K268E MIER1_ENST00000371016.1_Missense_Mutation_p.K268E|MIER1_ENST00000355977.6_Missense_Mutation_p.K188E|MIER1_ENST00000401041.1_Missense_Mutation_p.K304E|MIER1_ENST00000371018.3_Missense_Mutation_p.K268E|MIER1_ENST00000355356.3_Missense_Mutation_p.K251E|MIER1_ENST00000401042.3_Missense_Mutation_p.K251E|MIER1_ENST00000371014.1_Missense_Mutation_p.K304E NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 275 ELM2.|Interaction with HDAC1. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 ATCTCACATAAAAGACAATGA 0.353000 19 42 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96542225 96542225 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:96542225G>A ENST00000456556.1 - 59 3586 c.3502C>T c.(3502-3504)Caa>Taa p.Q1168* ANKRD36C_ENST00000419039.2_Nonsense_Mutation_p.Q195*|ANKRD36C_ENST00000420871.2_Nonsense_Mutation_p.Q419*|ANKRD36C_ENST00000295246.5_Nonsense_Mutation_p.Q589* ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AGCCTCTTTTGCTCTCCCTCT 0.313000 8 17 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49407936 49407936 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:49407936C>A ENST00000299191.3 + 1 203 c.86C>A c.(85-87)tCt>tAt p.S29Y NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 29 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 AGGCGCATGTCTGACCTCACC 0.502000 63 55 3.94839e-29 5.23921e-29 1 1 0 LRRC37A6P 387646 broad.mit.edu 37 10 27539241 27539241 + RNA SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:27539241G>A ENST00000574842.1 + 0 510 LRRC37A6P_ENST00000284414.4_RNA ATGTTCTGGAGGCTGAGCTGG 0.547000 52 43 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117424464 117424464 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:117424464C>T ENST00000160373.3 - 5 2204 c.2113G>A c.(2113-2115)Gcc>Acc p.A705T NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 705 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GCCAGGGGGGCAGGACCACCA 0.507000 79 66 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40033665 40033665 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:40033665C>G ENST00000373233.3 - 37 7893 c.7716G>C c.(7714-7716)aaG>aaC p.K2572N CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2572 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GGCTACTCGGCTTGTCTTCCG 0.502000 75 189 0 0 1 0 0 ARFRP1 10139 broad.mit.edu 37 20 62337724 62337724 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:62337724C>T ENST00000440854.1 - 4 386 c.249G>A c.(247-249)caG>caA p.Q83Q ARFRP1_ENST00000359715.5_Silent_p.Q83Q|ARFRP1_ENST00000324228.2_Silent_p.Q83Q|ARFRP1_ENST00000609142.1_Silent_p.Q83Q|ARFRP1_ENST00000607873.1_Silent_p.Q36Q NM_001134758.2|NM_001267544.1|NM_001267545.1|NM_001267547.1|NM_001267549.1|NM_003224.4 NP_001128230.1|NP_001254473.1|NP_001254474.1|NP_001254476.1|NP_001254478.1|NP_003215.1 Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 83 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) CCCACAAAGACTGCAGCTCTT 0.597000 86 218 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2115870 2115870 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:2115870G>T ENST00000382203.1 + 25 3714 c.3505G>T c.(3505-3507)Gtc>Ttc p.V1169F SMARCA2_ENST00000357248.2_Missense_Mutation_p.V1169F|SMARCA2_ENST00000382194.1_Missense_Mutation_p.V1169F|SMARCA2_ENST00000349721.2_Missense_Mutation_p.V1169F P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1169 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GCAGAACGAGGTCCGGGTACT 0.572000 18 3 6.94344e-10 7.51526e-10 1 1 0 KANK4 163782 broad.mit.edu 37 1 62739459 62739459 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:62739459G>A ENST00000371153.4 - 3 1695 c.1317C>T c.(1315-1317)agC>agT p.S439S KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 439 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 CAGACTCCATGCTGCCTAGAA 0.562000 116 105 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32715215 32715215 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:32715215A>C ENST00000421745.2 + 43 8337 c.8203A>C c.(8203-8205)Aat>Cat p.N2735H NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2735 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CATGCAGCTTAATTGTAAGTT 0.358000 67 7 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44111919 44111919 + Missense_Mutation SNP C C T rs138982373 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:44111919C>T ENST00000361807.3 + 5 622 c.428C>T c.(427-429)tCg>tTg p.S143L ZNF485_ENST00000374437.2_Missense_Mutation_p.S52L|ZNF485_ENST00000374435.3_Missense_Mutation_p.S143L NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 AAATACAATTCGTCCTTTATT 0.413000 15 53 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138719397 138719397 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:138719397G>C ENST00000389532.4 - 8 1143 c.1079C>G c.(1078-1080)cCt>cGt p.P360R CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P82R|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P371R NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 360 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CGGTACAGGAGGCCGGCTGCT 0.562000 19 32 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62081096 62081096 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:62081096G>A ENST00000404929.1 - 1 92 c.81C>T c.(79-81)gtC>gtT p.V27V FAM161A_ENST00000405894.3_Silent_p.V27V NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 27 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CGTACTGGGCGACCCGCGCTC 0.667000 18 6 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237753123 237753123 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:237753123C>A ENST00000366574.2 + 30 3946 c.3629C>A c.(3628-3630)gCt>gAt p.A1210D RYR2_ENST00000360064.6_Missense_Mutation_p.A1208D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1194D NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1210 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTGGAGTGGCTCAAGTGGGT 0.383000 23 39 1.64293e-13 1.8699e-13 1 1 0 FGD6 55785 broad.mit.edu 37 12 95485582 95485582 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:95485582C>T ENST00000343958.4 - 17 3974 c.3751G>A c.(3751-3753)Gta>Ata p.V1251I FGD6_ENST00000546711.1_Missense_Mutation_p.V1251I NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1251 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 GCTTGGCATACAATCTGAAAA 0.328000 9 25 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45912357 45912357 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:45912357T>C ENST00000311275.7 - 9 1033 c.780A>G c.(778-780)ctA>ctG p.L260L ZMYND8_ENST00000262975.4_Silent_p.L260L|ZMYND8_ENST00000372023.3_Silent_p.L255L|ZMYND8_ENST00000540497.1_Silent_p.L255L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Silent_p.L197L|ZMYND8_ENST00000396281.4_Silent_p.L260L|ZMYND8_ENST00000536340.1_Silent_p.L287L|ZMYND8_ENST00000471951.2_Silent_p.L280L|ZMYND8_ENST00000458360.2_Silent_p.L255L|ZMYND8_ENST00000352431.2_Silent_p.L280L|ZMYND8_ENST00000355972.4_Silent_p.L260L|ZMYND8_ENST00000360911.3_Silent_p.L255L|ZMYND8_ENST00000461685.1_Silent_p.L280L NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 260 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GGCAAGCAGCTAGATAACATT 0.393000 14 75 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36303753 36303753 + Silent SNP C C G rs142806923 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:36303753C>G ENST00000301175.3 - 2 200 c.183G>C c.(181-183)ctG>ctC p.L61L NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 61 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCTCTGGAGGCAGCAAGTTCA 0.587000 19 20 0 0 1 0 0 FAM204A 63877 broad.mit.edu 37 10 120095128 120095128 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:120095128T>C ENST00000369183.4 - 4 519 c.260A>G c.(259-261)cAt>cGt p.H87R FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.H87R NM_022063.2 NP_071346.1 Q9H8W3 F204A_HUMAN family with sequence similarity 204, member A 87 kidney(1)|large_intestine(5)|lung(4)|ovary(1) 11 CTGTTCAGAATGTTTTTTATG 0.303000 5 36 0 0 1 0 0 FUT5 2527 broad.mit.edu 37 19 5866680 5866680 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:5866680C>T ENST00000252675.5 - 5 1619 c.1057G>A c.(1057-1059)Gcc>Acc p.A353T FUT5_ENST00000588525.1_Missense_Mutation_p.A353T Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 353 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 TTCCAGCAGGCCTTGCAGAAA 0.652000 39 7 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47702220 47702220 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:47702220G>T ENST00000406134.1 + 12 1878 c.1816G>T c.(1816-1818)Gtc>Ttc p.V606F MSH2_ENST00000233146.2_Missense_Mutation_p.V606F|MSH2_ENST00000543555.1_Missense_Mutation_p.V540F P43246 MSH2_HUMAN mutS homolog 2 606 Interaction with EXO1. B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGATGCTGTTGTCAGCTTTGC 0.393000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 44 7 3.4345e-17 4.07708e-17 1 1 0 TRIML1 339976 broad.mit.edu 37 4 189068457 189068457 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:189068457C>A ENST00000332517.3 + 6 1478 c.1338C>A c.(1336-1338)tcC>tcA p.S446S TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 446 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CTATCTTTTCCCCCTGCCTCC 0.562000 40 90 8.69298e-16 1.01022e-15 1 1 0 MUC6 4588 broad.mit.edu 37 11 1018244 1018244 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:1018244G>C ENST00000421673.2 - 31 4607 c.4557C>G c.(4555-4557)aaC>aaG p.N1519K NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1519 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TAGGTGTTTTGTTTGTGCTGA 0.547000 121 11 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20117916 20117916 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:20117916C>A ENST00000397165.2 - 4 555 c.395G>T c.(394-396)gGa>gTa p.G132V ZNF682_ENST00000397162.1_Missense_Mutation_p.G100V|ZNF682_ENST00000595736.1_Missense_Mutation_p.G56V|ZNF682_ENST00000597972.1_Missense_Mutation_p.G138V|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.G100V|ZNF682_ENST00000593468.1_3'UTR NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TTGGTTAAGTCCATTATAAAT 0.323000 28 43 2.4375e-19 2.93137e-19 1 1 0 ZNF827 152485 broad.mit.edu 37 4 146807045 146807045 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:146807045C>A ENST00000508784.1 - 4 1759 c.1532G>T c.(1531-1533)aGc>aTc p.S511I ZNF827_ENST00000513320.1_Missense_Mutation_p.S161I|ZNF827_ENST00000379448.4_Missense_Mutation_p.S511I Q17R98 ZN827_HUMAN zinc finger protein 827 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CCCTCCCTGGCTAGTCCTCTC 0.602000 57 47 4.96213e-28 6.46014e-28 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139418227 139418227 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:139418227G>A ENST00000277541.6 - 3 420 c.345C>T c.(343-345)ggC>ggT p.G115G NOTCH1_ENST00000491649.1_5'UTR NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 115 EGF-like 3. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGTCGCAGGTGCCCCCGTTGC 0.687000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 19 15 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22934568 22934568 + RNA SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:22934568C>T ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA AAACCAAAGGCTTACAAAAAT 0.433000 23 30 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238275417 238275417 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:238275417G>C ENST00000295550.4 - 11 5865 c.5413C>G c.(5413-5415)Ctg>Gtg p.L1805V COL6A3_ENST00000472056.1_Missense_Mutation_p.L1198V|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1599V|COL6A3_ENST00000347401.3_Missense_Mutation_p.L1604V|COL6A3_ENST00000409809.1_Missense_Mutation_p.L1599V|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1605V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1805 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGTTCGGACAGCTCCTGGACG 0.517000 69 88 0 0 1 0 0 PAAF1 80227 broad.mit.edu 37 11 73625498 73625498 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:73625498G>C ENST00000544909.1 + 6 1028 c.771G>C c.(769-771)ttG>ttC p.L257F PAAF1_ENST00000535604.1_Missense_Mutation_p.L141F|PAAF1_ENST00000544552.1_Missense_Mutation_p.L239F|PAAF1_ENST00000310571.3_Missense_Mutation_p.L256F|PAAF1_ENST00000376384.5_Missense_Mutation_p.L239F|PAAF1_ENST00000536003.1_Missense_Mutation_p.L239F|PAAF1_ENST00000541951.1_Missense_Mutation_p.L141F Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 256 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) TGCTGCTCTTGGCCCGGGAAG 0.498000 28 46 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100185614 100185614 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:100185614C>T ENST00000325103.6 - 12 1349 c.1116G>A c.(1114-1116)ctG>ctA p.L372L HPS1_ENST00000361490.4_Silent_p.L372L|HPS1_ENST00000467246.1_5'UTR NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 372 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GCCACAGGGGCAGGCAGTACA 0.627000 Hermansky-Pudlak syndrome OREG0020430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 85 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906934 129906934 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:129906934T>G ENST00000368654.3 - 13 3545 c.3170A>C c.(3169-3171)gAg>gCg p.E1057A MKI67_ENST00000368653.3_Missense_Mutation_p.E697A NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1057 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCCTGCTGGCTCTCTGTGCGT 0.547000 172 115 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933116 43933116 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:43933116C>T ENST00000537548.1 - 4 639 c.395G>A c.(394-396)cGa>cAa p.R132Q MATN4_ENST00000360607.6_Missense_Mutation_p.R132Q|MATN4_ENST00000372754.1_Missense_Mutation_p.R132Q|MATN4_ENST00000353917.5_Missense_Mutation_p.R132Q|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.R132Q|MATN4_ENST00000342716.4_Missense_Mutation_p.R132Q O95460 MATN4_HUMAN matrilin 4 132 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) CTCTGGCGGTCGCGCGCCCTC 0.731000 6 19 0 0 1 0 0 HSP90B1 7184 broad.mit.edu 37 12 104327817 104327817 + Silent SNP C C T rs144387251 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:104327817C>T ENST00000299767.5 + 5 677 c.495C>T c.(493-495)acC>acT p.T165T NM_003299.2 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 165 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) ACCTTGGTACCATAGCCAAAT 0.438000 31 50 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58314503 58314503 + Silent SNP G G A rs151211769 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:58314503G>A ENST00000219301.4 - 7 1207 c.813C>T c.(811-813)gcC>gcT p.A271A CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Silent_p.A271A|PRSS54_ENST00000543437.1_Silent_p.A172A|CCDC113_ENST00000219299.4_3'UTR NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 271 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGGGAGGGCCGGCCCTCTCAG 0.527000 33 29 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240374392 240374392 + Splice_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:240374392G>C ENST00000319653.9 + 6 4152 c.3922G>C c.(3922-3924)Gac>Cac p.D1308H NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1308 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TAATTTTAGAGACTCCAGTAC 0.363000 45 37 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20084882 20084882 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:20084882G>T ENST00000570682.1 - 1 357 c.57C>A c.(55-57)ccC>ccA p.P19P NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 19 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AGGCCGAGCCGGGGGACCACC 0.697000 15 5 1.2644e-06 1.31703e-06 1 1 0 FAM98C 147965 broad.mit.edu 37 19 38896273 38896273 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:38896273G>C ENST00000252530.5 + 6 767 c.748G>C c.(748-750)Gag>Cag p.E250Q FAM98C_ENST00000343358.7_Missense_Mutation_p.E224Q|FAM98C_ENST00000588262.1_Intron NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 250 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGACCGGGCAGAGGTGTGGTG 0.607000 23 36 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105190500 105190500 + Splice_Site SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:105190500A>G ENST00000257700.2 + 8 1227 c.e8-1 NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CTCCTTCCTTAGCCAGAATGG 0.328000 23 30 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55357674 55357674 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:55357674G>T ENST00000524622.1 - 6 754 c.93C>A c.(91-93)ggC>ggA p.G31G TESPA1_ENST00000316577.8_Silent_p.G169G|TESPA1_ENST00000532804.1_Silent_p.G31G|TESPA1_ENST00000531122.1_Silent_p.G31G|TESPA1_ENST00000449076.1_Silent_p.G169G|TESPA1_ENST00000524959.1_5'UTR NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 169 CTTGGCCAAAGCCCAGACTGA 0.478000 68 64 7.07328e-35 9.59325e-35 1 1 0 COL19A1 1310 broad.mit.edu 37 6 70890380 70890380 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:70890380G>T ENST00000322773.4 + 44 2842 c.2740G>T c.(2740-2742)Ggt>Tgt p.G914C COL19A1_ENST00000393344.1_Missense_Mutation_p.G536C NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 914 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TGGAGATATAGGTTTCCCTGG 0.398000 40 46 2.56662e-36 3.50686e-36 1 1 0 QSOX1 5768 broad.mit.edu 37 1 180165664 180165664 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:180165664A>G ENST00000367602.3 + 12 1810 c.1736A>G c.(1735-1737)gAc>gGc p.D579G QSOX1_ENST00000367600.5_Missense_Mutation_p.D579G O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 579 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCAACTCTGGACCCTGGGAAG 0.642000 74 143 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124738754 124738754 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:124738754C>A ENST00000397801.1 + 2 409 c.217C>A c.(217-219)Ctg>Atg p.L73M ROBO3_ENST00000538940.1_Missense_Mutation_p.L51M NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 73 Ig-like C2-type 1. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GCCGCCAGATCTGCTGGTCTC 0.667000 9 19 2.17888e-05 2.23558e-05 1 1 0 KCNH8 131096 broad.mit.edu 37 3 19389402 19389402 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:19389402C>A ENST00000328405.2 + 5 1022 c.756C>A c.(754-756)tcC>tcA p.S252S KCNH8_ENST00000475063.1_3'UTR NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 252 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 ACGACCTGTCCACAACTCGGA 0.418000 239 113 1.47544e-110 2.14327e-110 1 1 0 ACBD7 414149 broad.mit.edu 37 10 15120593 15120593 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:15120593G>A ENST00000356189.5 - 4 250 c.203C>T c.(202-204)aCg>aTg p.T68M ACBD7_ENST00000496890.1_5'UTR NM_001039844.2 NP_001034933.1 Q8N6N7 ACBD7_HUMAN acyl-CoA binding domain containing 7 68 ACB. fatty-acyl-CoA binding endometrium(1)|lung(4)|prostate(1) 6 CGCATCTTCCGTCGACAACCC 0.363000 14 48 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409268 59409268 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:59409268G>A ENST00000301645.3 - 3 940 c.803C>T c.(802-804)tCc>tTc p.S268F NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 268 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ATCAAAGGTGGACAAAGTGTC 0.498000 Neonatal Giant Cell Hepatitis 101 132 0 0 1 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118228771 118228771 + Silent SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:118228771T>C ENST00000369230.3 + 9 1148 c.1002T>C c.(1000-1002)aaT>aaC p.N334N NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 334 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) ACTTCAAAAATATGAAGACTA 0.353000 29 16 0 0 1 0 0 KIAA0355 9710 broad.mit.edu 37 19 34832392 34832392 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:34832392C>A ENST00000299505.6 + 10 2426 c.1553C>A c.(1552-1554)gCt>gAt p.A518D NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 518 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GGCAACCAGGCTGACCTGCCT 0.433000 55 57 1.27862e-28 1.68047e-28 1 1 0 GRM6 2916 broad.mit.edu 37 5 178410002 178410002 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:178410002G>A ENST00000231188.5 - 9 2523 c.2345C>T c.(2344-2346)gCc>gTc p.A782V RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.A782V NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 782 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GATGGGCTTGGCCTCGTTGAA 0.587000 78 26 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116975551 116975551 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:116975551A>T ENST00000355044.3 + 9 1571 c.1445A>T c.(1444-1446)tAt>tTt p.Y482F NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 482 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AAGTCCATTTATGTTCATGGA 0.363000 7 27 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126683152 126683152 + Silent SNP G G A rs78653489 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:126683152G>A ENST00000309035.6 - 5 2416 c.2286C>T c.(2284-2286)ggC>ggT p.G762G CTBP2_ENST00000334808.6_Silent_p.G290G|CTBP2_ENST00000531469.1_Silent_p.G222G|CTBP2_ENST00000494626.2_Silent_p.G222G|CTBP2_ENST00000337195.5_Silent_p.G222G|CTBP2_ENST00000411419.2_Silent_p.G222G NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 222 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCCTCTGCACGCCCAGGGACC 0.552000 14 94 0 0 1 0 0 LSAMP 4045 broad.mit.edu 37 3 115805390 115805390 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:115805390C>A ENST00000490035.2 - 2 668 c.169G>T c.(169-171)Gac>Tac p.D57Y LSAMP_ENST00000539563.1_Missense_Mutation_p.D54Y NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein Ig-like C2-type 1. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GAGTTCTTGTCTTCTACAACG 0.458000 40 27 1.76056e-25 2.2496e-25 1 1 0 SOX8 30812 broad.mit.edu 37 16 1034810 1034810 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:1034810G>T ENST00000293894.3 + 3 880 c.765G>T c.(763-765)ggG>ggT p.G255G NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 255 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) TGGACAGCGGGCGCCAGAACA 0.682000 28 21 3.65163e-15 4.22578e-15 1 1 0 NEK10 152110 broad.mit.edu 37 3 27326389 27326389 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:27326389G>T ENST00000429845.2 - 22 2215 c.1853C>A c.(1852-1854)tCt>tAt p.S618Y NEK10_ENST00000341435.5_Missense_Mutation_p.S618Y|NEK10_ENST00000357467.2_Missense_Mutation_p.S15Y Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 618 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TTCCTTCAAAGAACTGAAATG 0.313000 25 131 4.22769e-11 4.67673e-11 1 1 0 CEP170B 283638 broad.mit.edu 37 14 105354104 105354104 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:105354104G>C ENST00000453495.1 + 12 3759 c.3531G>C c.(3529-3531)cgG>cgC p.R1177R CEP170B_ENST00000418279.1_Silent_p.R1106R|CEP170B_ENST00000414716.3_Silent_p.R1176R|CEP170B_ENST00000556508.1_Silent_p.R1106R centrosomal protein 170B CCCGGAAGCGGGCCGGCTCCT 0.697000 10 6 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87179515 87179515 + Missense_Mutation SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:87179515T>C ENST00000265724.3 - 13 1739 c.1322A>G c.(1321-1323)cAg>cGg p.Q441R ABCB1_ENST00000543898.1_Missense_Mutation_p.Q377R NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 441 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATAGAGCCTCTGCATCAGCTG 0.552000 31 47 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25449350 25449350 + RNA SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:25449350C>A ENST00000424208.1 + 0 2242 SNHG14_ENST00000424333.1_RNA NR_003305.1 GTATTGGGGCCACTGGCCCCA 0.622000 14 16 0.00244969 0.00246758 1 1 0 EIF3J 8669 broad.mit.edu 37 15 44829435 44829435 + Splice_Site SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:44829435G>C ENST00000261868.5 + 1 181 c.43G>C c.(43-45)Gac>Cac p.D15H EIF3J_ENST00000535391.1_Splice_Site_p.D15H|EIF3J_ENST00000424492.3_Splice_Site_p.D15H NM_003758.2 NP_003749.2 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, subunit J 15 Sufficient for interaction with EIF3B. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GGACTCCTGGGGTGAGGAGAA 0.711000 8 10 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88039908 88039908 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:88039908C>A ENST00000319595.4 + 1 63 c.9C>A c.(7-9)ttC>ttA p.F3L NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 3 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) AAATGGATTTCTTAAATTCAT 0.368000 38 65 6.97489e-18 8.35171e-18 1 1 0 SORBS1 10580 broad.mit.edu 37 10 97096652 97096652 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:97096652G>T ENST00000371247.2 - 30 3454 c.3265C>A c.(3265-3267)Caa>Aaa p.Q1089K SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.Q1089K|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.Q1043K|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000306402.6_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 1089 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AAGCTATCTTGGTGGATGCCT 0.562000 39 19 2.00842e-17 2.39449e-17 1 1 0 CBX1 10951 broad.mit.edu 37 17 46152410 46152410 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:46152410C>G ENST00000393408.3 - 4 851 c.371G>C c.(370-372)gGa>gCa p.G124A CBX1_ENST00000225603.4_Missense_Mutation_p.G124A|CBX1_ENST00000495350.1_Missense_Mutation_p.G124A NM_006807.4 NP_006798.1 P83916 CBX1_HUMAN chromobox homolog 1 124 Chromo 2; shadow subtype. nuclear heterochromatin|nucleoplasm|spindle chromatin binding|enzyme binding breast(1)|central_nervous_system(1)|kidney(1)|prostate(1) 4 GTCTGTAGCTCCAATAATCCG 0.453000 87 87 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15121757 15121757 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:15121757G>A ENST00000292574.3 + 1 202 c.120G>A c.(118-120)ggG>ggA p.G40G NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 40 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 ATCGCTGCGGGCAGGAGGCGG 0.711000 5 12 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578455 7578455 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:7578455C>G ENST00000420246.2 - 5 607 c.475G>C c.(475-477)Gcc>Ccc p.A159P TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000359597.4_Missense_Mutation_p.A159P|TP53_ENST00000269305.4_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 159 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (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.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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) ATGGCCATGGCGCGGACGCGG 0.627000 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) 52 9 0 0 1 0 0 RGS19 10287 broad.mit.edu 37 20 62705211 62705211 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:62705211C>A ENST00000395042.1 - 6 915 c.649G>T c.(649-651)Gcc>Tcc p.A217S RGS19_ENST00000332298.5_Missense_Mutation_p.A217S NM_005873.2 NP_005864.1 P49795 RGS19_HUMAN regulator of G-protein signaling 19 217 Interaction with GIPC. autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity lung(1)|prostate(1)|skin(1) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GCGGCCTAGGCCTCGGAGGAG 0.667000 68 33 9.21137e-24 1.15299e-23 1 1 0 AKAP8L 26993 broad.mit.edu 37 19 15491178 15491178 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:15491178C>G ENST00000397410.5 - 14 1826 c.1696G>C c.(1696-1698)Gcc>Ccc p.A566P AC005785.2_ENST00000597164.2_RNA|AKAP8L_ENST00000595465.2_Missense_Mutation_p.A505P NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like EEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPE PA -> RRRRSRRRLRAVPWTRGRRAKRQGFRRAQRACRRS LPCPQSQP (in Ref. 3; AAF86048). cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 TCGTCCAGGGCACCGCCCTCA 0.741000 7 7 0 0 1 0 0 RNASE9 390443 broad.mit.edu 37 14 21024720 21024720 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:21024720C>T ENST00000557068.1 - 4 2234 c.509G>A c.(508-510)tGg>tAg p.W170* RNASE9_ENST00000555230.1_Nonsense_Mutation_p.W170*|RNASE9_ENST00000553706.1_Nonsense_Mutation_p.W175*|RNASE9_ENST00000429244.2_Nonsense_Mutation_p.W170*|RNASE9_ENST00000338904.3_Nonsense_Mutation_p.W170*|RNASE9_ENST00000553541.1_Nonsense_Mutation_p.W170*|RNASE9_ENST00000557209.1_Nonsense_Mutation_p.W175*|RNASE9_ENST00000554964.1_Nonsense_Mutation_p.W170*|RNASE9_ENST00000404716.3_Nonsense_Mutation_p.W175*|RNASE9_ENST00000556208.1_Nonsense_Mutation_p.W175* P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 170 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) TTCATTTTGCCATGAACAAGT 0.383000 14 17 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2944710 2944710 + Silent SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:2944710A>T ENST00000602557.1 - 50 7941 c.7386T>A c.(7384-7386)ccT>ccA p.P2462P CSMD1_ENST00000520002.1_Silent_p.P2462P|CSMD1_ENST00000537824.1_Silent_p.P2461P|CSMD1_ENST00000602723.1_Silent_p.P2462P|CSMD1_ENST00000400186.3_Silent_p.P2462P|CSMD1_ENST00000542608.1_Silent_p.P2461P Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2462 Sushi 14. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCGGTATCCAGGCTTGCAAA 0.522000 56 3 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75981330 75981330 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:75981330G>A ENST00000308508.5 - 3 2168 c.2076C>T c.(2074-2076)gcC>gcT p.A692A NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 692 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CCTGCCCCACGGCATTGGTCT 0.662000 57 84 0 0 1 0 0 CLEC18B 497190 broad.mit.edu 37 16 74452026 74452026 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:74452026T>A ENST00000339953.5 - 3 508 c.387A>T c.(385-387)gcA>gcT p.A129A NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 129 SCP. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCTGCCCCTCTGCAAACCACA 0.662000 29 36 0 0 1 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149785176 149785176 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:149785176G>A ENST00000331491.1 - 1 60 c.61C>T c.(61-63)Ctg>Ttg p.L21L NM_001123375.2 NP_001116847.1 Q71DI3 H32_HUMAN histone cluster 2, H3d 21 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 TTGGTAGCCAGCTGCTTCCTC 0.667000 21 75 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19965049 19965049 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:19965049G>T ENST00000263207.3 - 9 2050 c.1759C>A c.(1759-1761)Ccc>Acc p.P587T ARVCF_ENST00000406522.1_Missense_Mutation_p.P524T|ARVCF_ENST00000406259.1_Missense_Mutation_p.P587T|ARVCF_ENST00000401994.1_Missense_Mutation_p.P524T|ARVCF_ENST00000344269.3_Missense_Mutation_p.P524T NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 587 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) TCGGCCCCGGGCACCTCCTTG 0.677000 62 67 2.17656e-39 2.99616e-39 1 1 0 NFATC2 4773 broad.mit.edu 37 20 50048713 50048713 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:50048713G>A ENST00000371564.3 - 9 2832 c.2613C>T c.(2611-2613)agC>agT p.S871S NFATC2_ENST00000414705.1_Silent_p.S851S|NFATC2_ENST00000396009.3_Silent_p.S871S|NFATC2_ENST00000609507.1_Silent_p.S652S|NFATC2_ENST00000610033.1_Silent_p.S652S|NFATC2_ENST00000609943.1_Silent_p.S851S NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 871 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CGGCTCTTTGGCTCGTGGCAT 0.592000 51 117 0 0 1 0 0 C11orf58 10944 broad.mit.edu 37 11 16776487 16776487 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:16776487C>A ENST00000228136.4 + 5 766 c.388C>A c.(388-390)Cct>Act p.P130T C11orf58_ENST00000422258.2_Missense_Mutation_p.P86T|C11orf58_ENST00000525684.1_3'UTR O00193 SMAP_HUMAN chromosome 11 open reading frame 58 130 Asp-rich. NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1) 7 tTCACCTGATCCTGAAAGTCC 0.438000 29 3 1.2476e-16 1.47153e-16 1 1 0 RNF126P1 376412 broad.mit.edu 37 17 55123481 55123481 + RNA SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:55123481C>G ENST00000567452.1 + 0 643 NR_002818.2 ACGGGCCCCCCACCGGCAGAT 0.612000 6 2 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33591101 33591101 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:33591101C>G ENST00000380099.3 + 1 531 c.523C>G c.(523-525)Cgc>Ggc p.R175G KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 175 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CTACTACCGGCGCCTGCTGGA 0.726000 11 16 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10353854 10353854 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:10353854G>C ENST00000255381.2 - 30 4207 c.4097C>G c.(4096-4098)tCc>tGc p.S1366C RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1366 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTTGGCCTTGGACATTCCCCT 0.602000 102 9 0 0 1 0 0 IL23A 51561 broad.mit.edu 37 12 56733306 56733306 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:56733306C>T ENST00000228534.4 + 2 425 c.259C>T c.(259-261)Cag>Tag p.Q87* NM_016584.2 NP_057668.1 Q9NPF7 IL23A_HUMAN interleukin 23, alpha subunit p19 87 defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling interleukin-23 complex cytokine activity kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 5 GGACAACAGTCAGGTACCACT 0.493000 25 28 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201868633 201868633 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:201868633G>A ENST00000367288.4 - 2 1754 c.1508C>T c.(1507-1509)gCc>gTc p.A503V RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 503 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CTTAGCCACGGCCCCGGCCTT 0.582000 23 30 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158641934 158641934 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:158641934C>A ENST00000368147.4 - 11 1583 c.1403G>T c.(1402-1404)cGt>cTt p.R468L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R468H(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGACGATGACGCTCGTCCCA 0.438000 64 52 7.73544e-29 1.01908e-28 1 1 0 IZUMO2 126123 broad.mit.edu 37 19 50657922 50657922 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:50657922C>T ENST00000293405.3 - 6 558 c.558G>A c.(556-558)caG>caA p.Q186Q NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 186 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 CCAACAGCGCCTGGTTCCTCG 0.622000 21 78 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123481053 123481053 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:123481053C>A ENST00000280562.5 - 12 1939 c.1734G>T c.(1732-1734)gtG>gtT p.V578V PITPNM2_ENST00000392428.1_Silent_p.V299V|PITPNM2_ENST00000542749.1_Silent_p.V578V|PITPNM2_ENST00000320201.4_Silent_p.V578V Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 578 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GACTCTCAGACACCGGCTGGT 0.652000 23 48 1.1804e-14 1.36029e-14 1 1 0 TMEM131 23505 broad.mit.edu 37 2 98422040 98422040 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:98422040C>T ENST00000186436.5 - 20 2410 c.2182G>A c.(2182-2184)Gac>Aac p.D728N NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 728 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GGCTCCAAGTCTTCCTTATTG 0.343000 75 102 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927213 55927213 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:55927213T>G ENST00000313447.1 - 1 580 c.581A>C c.(580-582)gAa>gCa p.E194A NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CAATTCTATTTCCTGTGCATT 0.333000 7 61 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586121 20586121 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:20586121C>G ENST00000315543.4 + 1 556 c.556C>G c.(556-558)Cac>Gac p.H186D NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H186Y(1) kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GGGTCTCCTTCACTCAGGGTT 0.453000 60 94 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652481 1652481 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:1652481G>T ENST00000252804.4 - 17 3121 c.3071C>A c.(3070-3072)gCg>gAg p.A1024E NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1024 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CTGGATCTCCGCACCCACGAT 0.622000 11 0 3.86212e-05 3.94794e-05 1 1 0 CCT5 22948 broad.mit.edu 37 5 10254301 10254301 + Silent SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:10254301A>C ENST00000280326.4 + 2 570 c.150A>C c.(148-150)acA>acC p.T50T CCT5_ENST00000515390.1_Silent_p.T50T|CCT5_ENST00000515676.1_Silent_p.T12T|CCT5_ENST00000506600.1_Silent_p.T12T|CCT5_ENST00000503026.1_Silent_p.T29T NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 50 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 CAATGAGAACATCACTTGGAC 0.328000 22 33 0 0 1 0 0 HSD17B1 3292 broad.mit.edu 37 17 40704977 40704977 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:40704977C>G ENST00000585807.1 + 1 3746 c.26C>G c.(25-27)aCc>aGc p.T9S RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.T9S|RP11-400F19.6_ENST00000590513.1_RNA NM_000413.2 NP_000404.2 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 9 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity NS(1)|endometrium(1)|kidney(1)|lung(2) 5 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) GTGCTCATCACCGGCTGTTCC 0.647000 55 4 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213224846 213224846 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:213224846G>T ENST00000366960.3 + 1 250 c.100G>T c.(100-102)Gcc>Tcc p.A34S RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A34S|RPS6KC1_ENST00000543354.1_5'UTR NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 34 PX. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TAAGGTCACCGCCCGGGTGAG 0.627000 12 24 0.00136819 0.00138831 1 1 0 MARVELD3 91862 broad.mit.edu 37 16 71668682 71668682 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:71668682G>T ENST00000268485.3 + 3 1226 c.1182G>T c.(1180-1182)aaG>aaT p.K394N MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron NM_052858.4 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 394 integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) TAAAAGAGAAGCCAGCAGAAA 0.493000 37 43 1.07637e-12 1.21256e-12 1 1 0 MMP2 4313 broad.mit.edu 37 16 55523725 55523725 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:55523725G>A ENST00000219070.4 + 7 1678 c.1169G>A c.(1168-1170)tGc>tAc p.C390Y MMP2_ENST00000570308.1_Missense_Mutation_p.C314Y|MMP2_ENST00000437642.2_Missense_Mutation_p.C340Y|MMP2_ENST00000543485.1_Missense_Mutation_p.C314Y NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 390 Collagen-binding.|Fibronectin type-II 3. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGGGGCTTCTGCCCTGACCAA 0.572000 25 37 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169101351 169101351 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:169101351G>C ENST00000256935.8 + 6 452 c.372G>C c.(370-372)ctG>ctC p.L124L NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 124 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTACGATCTGATGGAGTGGA 0.478000 50 23 0 0 1 0 0 ZER1 10444 broad.mit.edu 37 9 131516169 131516169 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:131516169G>C ENST00000291900.2 - 3 634 c.228C>G c.(226-228)gaC>gaG p.D76E ZER1_ENST00000494461.1_5'UTR NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 76 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 TGCTGCGGGGGTCCGAAAAGA 0.627000 5 10 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66436895 66436895 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:66436895C>A ENST00000341529.3 + 12 2326 c.2178C>A c.(2176-2178)gaC>gaA p.D726E CDH5_ENST00000539168.1_Missense_Mutation_p.D165E NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 726 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CCCCCTACGACACGCTGCACA 0.667000 23 23 3.5997e-14 4.13105e-14 1 1 0 SNX25 83891 broad.mit.edu 37 4 186188167 186188167 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:186188167A>G ENST00000504273.1 + 5 751 c.457A>G c.(457-459)Aac>Gac p.N153D SNX25_ENST00000264694.8_Missense_Mutation_p.N153D Q9H3E2 SNX25_HUMAN sorting nexin 25 153 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) AGATTACATTAACCAAATGCT 0.453000 37 65 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28669557 28669557 + Splice_Site SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr18:28669557C>G ENST00000280904.6 - 5 918 c.475G>C c.(475-477)Gtt>Ctt p.V159L DSC2_ENST00000251081.6_Splice_Site_p.V159L NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 159 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TCAGATTGAACCTAGAAAGTA 0.328000 15 20 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21374421 21374421 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:21374421C>T ENST00000400602.2 - 15 2056 c.2021G>A c.(2020-2022)gGt>gAt p.G674D XPO4_ENST00000255305.6_Missense_Mutation_p.G674D NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 674 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) CCACTGAGAACCCTCTGTATC 0.413000 40 45 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113286403 113286403 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:113286403A>G ENST00000264852.4 + 3 1087 c.361A>G c.(361-363)Aac>Gac p.N121D SIDT1_ENST00000393830.3_Missense_Mutation_p.N121D NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 121 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 GAGGAGCTACAACTATCAAGA 0.468000 59 101 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54799117 54799117 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:54799117C>T ENST00000293379.4 - 12 1319 c.1058G>A c.(1057-1059)cGg>cAg p.R353Q RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 353 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 GTCAGGGGTCCGATCCATGAG 0.652000 25 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086125 9086125 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9086125G>T ENST00000397910.4 - 1 5893 c.5690C>A c.(5689-5691)aCt>aAt p.T1897N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1897 Ser-rich.|Thr-rich. 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 CTCTGTGTAAGTCATGGAAGT 0.488000 25 109 2.27525e-19 2.74223e-19 1 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21007999 21007999 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:21007999A>T ENST00000381545.3 + 4 341 c.122A>T c.(121-123)aAa>aTa p.K41I SLCO1B3_ENST00000553473.1_Missense_Mutation_p.K41I|LST3_ENST00000540229.1_Missense_Mutation_p.K41I|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.K41I|LST3_ENST00000381541.3_Missense_Mutation_p.K41I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.K41I NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 41 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TATATTGCTAAAGCACTAGGT 0.318000 15 20 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113803477 113803477 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:113803477C>A ENST00000375559.3 + 8 1151 c.1113C>A c.(1111-1113)ggC>ggA p.G371G F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 371 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) ACGAGAAGGGCCGGCAGTCCA 0.637000 31 37 1.06801e-11 1.19583e-11 1 1 0 ASTL 431705 broad.mit.edu 37 2 96798412 96798412 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:96798412C>A ENST00000342380.2 - 6 503 c.504G>T c.(502-504)ctG>ctT p.L168L NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 168 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 ACGTGGGCGCCAGGGAGACCA 0.652000 46 88 5.34276e-22 6.64234e-22 1 1 0 GATA5 140628 broad.mit.edu 37 20 61050567 61050567 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:61050567C>T ENST00000252997.2 - 2 72 c.11G>A c.(10-12)aGc>aAc p.S4N NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 4 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) CAGCGCCAGGCTCTGGTACAT 0.716000 5 13 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162463736 162463736 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:162463736C>T ENST00000306100.5 - 9 1561 c.1125G>A c.(1123-1125)ttG>ttA p.L375L FSTL5_ENST00000427802.2_Silent_p.L374L|FSTL5_ENST00000536695.1_Silent_p.L374L|FSTL5_ENST00000379164.4_Silent_p.L374L NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 375 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTCCATTCTTCAACCAGCCAA 0.443000 42 59 0 0 1 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553561 135553561 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:135553561G>C ENST00000372146.4 + 2 1119 c.555G>C c.(553-555)ctG>ctC p.L185L GTF3C4_ENST00000483873.2_Intron NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 185 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TGGCAGCACTGACCATGGACA 0.527000 56 51 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176863873 176863873 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:176863873G>A ENST00000367654.3 - 17 3000 c.2789C>T c.(2788-2790)aCc>aTc p.T930I ASTN1_ENST00000367657.3_Missense_Mutation_p.T922I|ASTN1_ENST00000424564.2_Missense_Mutation_p.T922I|ASTN1_ENST00000361833.2_Missense_Mutation_p.T922I NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CATGTGCTTGGTGCCGGAGTC 0.597000 36 142 0 0 1 0 0 IFNA4 3441 broad.mit.edu 37 9 21187497 21187497 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:21187497G>A ENST00000421715.1 - 1 101 c.34C>T c.(34-36)Ctg>Ttg p.L12L NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 12 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTGAGCACCAGCACGGCCATC 0.502000 36 9 0 0 1 0 0 TMX4 56255 broad.mit.edu 37 20 7980425 7980425 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:7980425G>C ENST00000246024.2 - 4 636 c.421C>G c.(421-423)Caa>Gaa p.Q141E TMX4_ENST00000530935.1_5'UTR NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 141 cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 TCGACTGATTGCCATTTCTTC 0.403000 18 54 0 0 1 0 0 FAM175B 23172 broad.mit.edu 37 10 126519948 126519948 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:126519948C>T ENST00000298492.5 + 8 739 c.694C>T c.(694-696)Cga>Tga p.R232* NM_032182.3 NP_115558.3 Q15018 F175B_HUMAN family with sequence similarity 175, member B 232 BRISC complex polyubiquitin binding NS(1) 1 AAAGAGTGAGCGAGTTGTTGA 0.378000 6 44 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29638200 29638200 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:29638200G>C ENST00000323874.8 + 22 3129 c.3019G>C c.(3019-3021)Gac>Cac p.D1007H PTPRU_ENST00000460170.2_Missense_Mutation_p.D1007H|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1007H|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1001H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Missense_Mutation_p.D1011H|PTPRU_ENST00000428026.2_Missense_Mutation_p.D998H Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1011 Tyrosine-protein phosphatase 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CACCTACGGGGACATCAAGAT 0.607000 45 88 0 0 1 0 0 NCF4 4689 broad.mit.edu 37 22 37266564 37266564 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:37266564C>G ENST00000397147.4 + 5 634 c.450C>G c.(448-450)ctC>ctG p.L150L NCF4_ENST00000248899.6_Silent_p.L150L NM_013416.3 NP_038202.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 150 cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 TCCGCCGGCTCCGCCCGCGCA 0.617000 33 54 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53039197 53039197 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:53039197G>A ENST00000309680.3 - 9 1547 c.1526C>T c.(1525-1527)tCa>tTa p.S509L NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 509 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) CACATTTGATGAAATGGTGCT 0.537000 68 68 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183933111 183933111 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:183933111C>A ENST00000361927.4 - 6 1247 c.876G>T c.(874-876)ctG>ctT p.L292L COLGALT2_ENST00000546159.1_Silent_p.L292L|COLGALT2_ENST00000367520.3_Silent_p.L29L NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 GGGGGATGGGCAGGTAGCCAT 0.522000 24 59 4.7796e-09 5.11306e-09 1 1 0 PUS3 83480 broad.mit.edu 37 11 125765537 125765537 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:125765537C>A ENST00000227474.3 - 3 623 c.526G>T c.(526-528)Gcc>Tcc p.A176S HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.A176S|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron NM_001271985.1|NM_031307.3 NP_001258914.1|NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 176 nucleus RNA binding NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) GGGGCCCAGGCCAATATACGG 0.478000 44 37 2.26627e-22 2.82389e-22 1 1 0 TMBIM6 7009 broad.mit.edu 37 12 50152022 50152022 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:50152022G>A ENST00000423828.1 + 5 801 c.473G>A c.(472-474)gGc>gAc p.G158D TMBIM6_ENST00000552699.1_Missense_Mutation_p.G158D|TMBIM6_ENST00000547798.1_Missense_Mutation_p.G63D|TMBIM6_ENST00000549385.1_Missense_Mutation_p.G100D|TMBIM6_ENST00000267115.5_Missense_Mutation_p.G100D|TMBIM6_ENST00000395006.4_Missense_Mutation_p.G100D NM_001098576.1 NP_001092046.1 P55061 BI1_HUMAN transmembrane BAX inhibitor motif containing 6 100 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 6 GTTGGCCTGGGCCCTGCCCTG 0.408000 66 94 0 0 1 0 0 TMEM143 55260 broad.mit.edu 37 19 48845927 48845927 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:48845927C>G ENST00000293261.3 - 6 1151 c.835G>C c.(835-837)Gcc>Ccc p.A279P TMEM143_ENST00000435956.3_Missense_Mutation_p.A244P|TMEM143_ENST00000541566.1_Missense_Mutation_p.A169P|TMEM143_ENST00000377431.2_Missense_Mutation_p.A179P|TMEM143_ENST00000436660.2_Missense_Mutation_p.A214P NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 279 integral to membrane|mitochondrion p.A279T(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) TTGAGCAGGGCGCGCTGCAGG 0.642000 35 24 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28925724 28925724 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:28925724C>A ENST00000358201.4 - 5 1315 c.727G>T c.(727-729)Gtc>Ttc p.V243F RABEP2_ENST00000544477.1_Missense_Mutation_p.V172F|RABEP2_ENST00000357573.6_Missense_Mutation_p.V243F NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 243 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CTGCTGCCGACCCCACCGCCA 0.672000 37 32 3.76114e-14 4.29844e-14 1 1 0 ZNF839 55778 broad.mit.edu 37 14 102792535 102792535 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:102792535G>C ENST00000262236.5 + 2 509 c.154G>C c.(154-156)Gac>Cac p.D52H ZNF839_ENST00000559185.1_Missense_Mutation_p.D52H|ZNF839_ENST00000442396.2_Missense_Mutation_p.D168H|ZNF839_ENST00000558850.1_Missense_Mutation_p.D52H NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 52 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CTTCCTAAGTGACTTATGCCA 0.607000 38 17 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39071345 39071345 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:39071345G>A ENST00000331366.5 - 17 1379 c.1283C>T c.(1282-1284)tCt>tTt p.S428F CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000360449.3_Missense_Mutation_p.S416F|CPNE8_ENST00000538596.2_Missense_Mutation_p.S97F NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 428 VWFA. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) ATCCTTTACAGAAGAAGCATA 0.363000 15 29 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3613643 3613643 + RNA SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:3613643C>A ENST00000301749.7 - 0 1700 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCACGGGGCGCCCTGCAGCAG 0.587000 19 19 1.01871e-10 1.11573e-10 1 1 0 MUC16 94025 broad.mit.edu 37 19 9090068 9090068 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9090068C>G ENST00000397910.4 - 1 1950 c.1747G>C c.(1747-1749)Gaa>Caa p.E583Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 583 Thr-rich. 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 GATGTTTCTTCAAGCCAAATC 0.532000 104 28 0 0 1 0 0 PMEL 6490 broad.mit.edu 37 12 56349451 56349451 + Missense_Mutation SNP A A C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr12:56349451A>C ENST00000548747.1 - 9 2221 c.1559T>G c.(1558-1560)cTg>cGg p.L520R PMEL_ENST00000552882.1_Missense_Mutation_p.L520R|PMEL_ENST00000550447.1_Missense_Mutation_p.L149R|PMEL_ENST00000360714.4_Missense_Mutation_p.L520R|PMEL_ENST00000449260.2_Missense_Mutation_p.L520R|PMEL_ENST00000550464.1_Missense_Mutation_p.L434R|PMEL_ENST00000536427.1_Missense_Mutation_p.L478R|PMEL_ENST00000539511.1_Missense_Mutation_p.L434R|PMEL_ENST00000548493.1_Missense_Mutation_p.L520R P40967 PMEL_HUMAN premelanosome protein 520 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 TTCCTTGGGCAGCCTGGAAGA 0.577000 30 42 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29760165 29760165 + Missense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:29760165A>T ENST00000375398.2 - 33 5986 c.5537T>A c.(5536-5538)gTt>gAt p.V1846D PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.V1420D|SVIL_ENST00000355867.4_Missense_Mutation_p.V1846D|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.V760D O95425 SVIL_HUMAN supervillin 1846 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TCCCTGGAGAACCTGGACCTT 0.498000 12 10 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60686272 60686272 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr13:60686272G>A ENST00000400324.4 - 3 482 c.262C>T c.(262-264)Cct>Tct p.P88S DIAPH3_ENST00000400320.1_Missense_Mutation_p.P77S|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P88S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P77S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P88S NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 88 actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GGAAGTGGAGGTCTCTCTTTC 0.438000 97 129 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106235715 106235715 + RNA SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:106235715G>T ENST00000390551.2 - 0 991 AGAAGGAGCCGTCGGAGTCCA 0.597000 104 525 1.28261e-47 1.80153e-47 1 1 0 SLITRK3 22865 broad.mit.edu 37 3 164907895 164907895 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:164907895G>T ENST00000475390.1 - 2 1167 c.724C>A c.(724-726)Caa>Aaa p.Q242K SLITRK3_ENST00000241274.3_Missense_Mutation_p.Q242K O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 242 LRRCT 1. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CTCTTCAGTTGTACAATTTCA 0.463000 HNSCC(40;0.11) 47 93 1.23713e-20 1.51754e-20 1 1 0 CDKL5 6792 broad.mit.edu 37 X 18622521 18622521 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:18622521A>G ENST00000379989.3 + 13 1762 c.1477A>G c.(1477-1479)Agt>Ggt p.S493G CDKL5_ENST00000379996.3_Missense_Mutation_p.S493G|CDKL5_ENST00000463994.1_3'UTR NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 493 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) TGGGGCACTGAGTGACTCCAA 0.517000 60 11 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158590242 158590242 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:158590242G>A ENST00000368147.4 - 44 6315 c.6135C>T c.(6133-6135)ttC>ttT p.F2045F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAAATTCCACGAACAGGTCCT 0.423000 19 50 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70605036 70605036 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:70605036G>T ENST00000302516.5 + 25 3658 c.3447G>T c.(3445-3447)cgG>cgT p.R1149R NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 1149 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TGCACCTGCGGTCTGAACATC 0.498000 109 113 8.74965e-44 1.21352e-43 1 1 0 SLC40A1 30061 broad.mit.edu 37 2 190428407 190428407 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr2:190428407C>A ENST00000261024.2 - 7 1731 c.1305G>T c.(1303-1305)ggG>ggT p.G435G NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 435 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CAGAATTAGACCCATTAGACA 0.408000 41 49 1.67305e-13 1.90025e-13 1 1 0 BCR 613 broad.mit.edu 37 22 23626223 23626223 + Silent SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:23626223G>C ENST00000305877.8 + 9 2926 c.2175G>C c.(2173-2175)ctG>ctC p.L725L BCR_ENST00000359540.3_Silent_p.L725L NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 725 PH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CCCGCAAGCTGCGCCACGTCT 0.657000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 4 10 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108206598 108206598 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:108206598T>A ENST00000278616.4 + 56 8563 c.8178T>A c.(8176-8178)gcT>gcA p.A2726A ATM_ENST00000452508.2_Silent_p.A2726A|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2726 PI3K/PI4K. A -> V (in AT). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GACAAGATGCTGTCATGCAAC 0.348000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 20 21 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9016999 9016999 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:9016999G>A ENST00000397910.4 - 27 38199 c.37996C>T c.(37996-37998)Cct>Tct p.P12666S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12668 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 GTGGGCACAGGGATCCAATGG 0.537000 25 141 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44636769 44636769 + Nonsense_Mutation SNP A A T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:44636769A>T ENST00000262894.6 + 5 2282 c.2002A>T c.(2002-2004)Aaa>Taa p.K668* ZNF225_ENST00000590612.1_Nonsense_Mutation_p.K668*|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 668 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) TTCATGCCTTAAAGACCAACA 0.443000 23 9 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106858277 106858277 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:106858277C>T ENST00000379987.2 + 4 593 c.377C>T c.(376-378)tCc>tTc p.S126F NPNT_ENST00000514622.1_Missense_Mutation_p.S126F|NPNT_ENST00000305572.8_Missense_Mutation_p.S126F|NPNT_ENST00000427316.2_Missense_Mutation_p.S156F|NPNT_ENST00000506666.1_Missense_Mutation_p.S156F|NPNT_ENST00000453617.2_Missense_Mutation_p.S143F|NPNT_ENST00000513430.1_3'UTR NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 126 EGF-like 2; calcium-binding (Potential). cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) CCGGATGGTTCCTGCTCAAGT 0.488000 35 95 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236925893 236925893 + Missense_Mutation SNP G G A rs148972050 TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:236925893G>A ENST00000366578.4 + 21 2825 c.2659G>A c.(2659-2661)Gca>Aca p.A887T ACTN2_ENST00000542672.1_Missense_Mutation_p.A887T|ACTN2_ENST00000546208.1_Missense_Mutation_p.A381T NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 887 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GTTCTCTTCCGCACTCTACGG 0.552000 8 92 0 0 1 0 0 PARM1 25849 broad.mit.edu 37 4 75937717 75937717 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:75937717G>T ENST00000307428.7 + 2 338 c.126G>T c.(124-126)tgG>tgT p.W42C RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 42 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CCACCATCTGGACTAGCTCTC 0.522000 32 56 2.80507e-11 3.11549e-11 1 1 0 TUBB2A 7280 broad.mit.edu 37 6 3154784 3154784 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:3154784C>G ENST00000333628.3 - 4 713 c.651G>C c.(649-651)ctG>ctC p.L217L NM_001069.2 NP_001060.1 Q13885 TBB2A_HUMAN tubulin, beta 2A class IIa 217 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 Ovarian(93;0.0386) all_hematologic(90;0.0895) TGGGGGTGGTCAGCTTCAGGG 0.612000 49 71 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158824638 158824638 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:158824638C>T ENST00000262178.2 - 11 1277 c.1092G>A c.(1090-1092)ggG>ggA p.G364G VIPR2_ENST00000377633.3_Silent_p.G348G|VIPR2_ENST00000402066.1_Silent_p.G505G NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 364 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CCTGGAACGACCCGAGGCACA 0.607000 64 67 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104642734 104642734 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:104642734C>G ENST00000315264.7 + 11 3570 c.3192C>G c.(3190-3192)gcC>gcG p.A1064A KIF26A_ENST00000423312.2_Silent_p.A1203A Q9ULI4 KI26A_HUMAN kinesin family member 26A 1203 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CATCCGCAGCCCAGACCATCC 0.736000 16 20 0 0 1 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 98807755 98807755 + Splice_Site SNP T T C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:98807755T>C ENST00000453547.2 - 25 2742 c.e25-2 SLIT1_ENST00000266058.4_Splice_Site|SLIT1_ENST00000371070.4_Splice_Site GCTCTTTGGCTGGGAAGAGAA 0.597000 42 119 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136323081 136323081 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:136323081G>A ENST00000371929.3 + 28 4386 c.3942G>A c.(3940-3942)tcG>tcA p.S1314S ADAMTS13_ENST00000356589.2_Silent_p.S1227S|ADAMTS13_ENST00000371910.1_Silent_p.S110S|ADAMTS13_ENST00000355699.2_Silent_p.S1258S|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1314 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TGAGCCCCTCGCTGAGTCCAG 0.607000 61 54 0 0 1 0 0 IGLV2-23 28813 broad.mit.edu 37 22 23040596 23040596 + RNA SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr22:23040596C>T ENST00000390306.2 + 0 208 TCCCTCTTTCCAGGGTCCTGG 0.612000 90 24 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5693378 5693378 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:5693378G>T ENST00000360614.3 - 17 2791 c.2634C>A c.(2632-2634)gcC>gcA p.A878A LONP1_ENST00000593119.1_Silent_p.A814A|LONP1_ENST00000585374.1_Silent_p.A764A|LONP1_ENST00000590729.1_Silent_p.A748A|LONP1_ENST00000540670.2_Silent_p.A682A NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 878 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CGCCAGTCATGGCCAGATTCT 0.647000 61 11 1.33661e-31 1.7908e-31 1 1 0 NDNF 79625 broad.mit.edu 37 4 121958321 121958321 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:121958321G>A ENST00000379692.4 - 4 1331 c.805C>T c.(805-807)Cag>Tag p.Q269* NDNF_ENST00000506900.1_5'UTR NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 269 Fibronectin type-III 1. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 GGCTTTGCCTGGAAACTGCGT 0.463000 24 41 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105495534 105495534 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr10:105495534C>A ENST00000369774.4 - 4 538 c.262G>T c.(262-264)Gac>Tac p.D88Y SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D88Y Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 88 PX. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) ACAGCTACGTCCCGGATGTGG 0.572000 107 63 4.37601e-64 6.32345e-64 1 1 0 TULP2 7288 broad.mit.edu 37 19 49385331 49385331 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:49385331G>A ENST00000221399.3 - 12 1549 c.1405C>T c.(1405-1407)Cgg>Tgg p.R469W NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 469 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) ACCGAAGCCCGAGTGACTCGA 0.547000 16 81 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150945387 150945387 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:150945387C>A ENST00000261800.5 - 1 3118 c.3106G>T c.(3106-3108)Gtg>Ttg p.V1036L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1036 Cadherin 9. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCTGGTGCACGAAGGAGGCA 0.602000 9 44 2.17888e-05 2.23558e-05 1 1 0 TMEM143 55260 broad.mit.edu 37 19 48846055 48846055 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:48846055T>G ENST00000293261.3 - 6 1023 c.707A>C c.(706-708)aAg>aCg p.K236T TMEM143_ENST00000435956.3_Missense_Mutation_p.K201T|TMEM143_ENST00000541566.1_Missense_Mutation_p.K126T|TMEM143_ENST00000377431.2_Missense_Mutation_p.K136T|TMEM143_ENST00000436660.2_Missense_Mutation_p.K171T NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 236 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GACCACCCGCTTAAAGTATCT 0.627000 26 16 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77271359 77271359 + Silent SNP A A G rs61053012 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:77271359A>G ENST00000341514.6 + 12 2762 c.2607A>G c.(2605-2607)gtA>gtG p.V869V ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.V791V NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 869 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 ATTCTATGGTAGATGAGTCCC 0.378000 60 1 0 0 1 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880543 105880543 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:105880543C>G ENST00000301919.4 - 3 2172 c.757G>C c.(757-759)Gag>Cag p.E253Q NM_032424.1 NP_115800.1 Q8NCY6 K1826_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 253 nucleus CGCTCCTTCTCTAGCTGAAGC 0.463000 63 67 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628764 84628764 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:84628764C>T ENST00000284136.6 - 17 2369 c.2326G>A c.(2326-2328)Gcc>Acc p.A776T SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 776 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 AACTACGTGGCTACAGCTCTA 0.393000 26 43 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296648 28296648 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:28296648G>T ENST00000284987.5 - 8 2638 c.2517C>A c.(2515-2517)ccC>ccA p.P839P AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 839 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 ATGGTTTAGTGGGGTCTGTTG 0.453000 55 99 9.72345e-25 1.23671e-24 1 1 0 SLC34A1 6569 broad.mit.edu 37 5 176815166 176815166 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:176815166G>T ENST00000324417.5 + 7 907 c.816G>T c.(814-816)gaG>gaT p.E272D SLC34A1_ENST00000512593.1_Missense_Mutation_p.E272D NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 272 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCATCACAGAGCCCTTCACGA 0.597000 41 13 7.63091e-17 9.01984e-17 1 1 0 HCK 3055 broad.mit.edu 37 20 30672279 30672279 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:30672279G>A ENST00000534862.1 + 9 1071 c.708G>A c.(706-708)gaG>gaA p.E236E HCK_ENST00000518730.1_Silent_p.E234E|HCK_ENST00000375862.2_Silent_p.E255E|HCK_ENST00000520553.1_Silent_p.E235E|HCK_ENST00000538448.1_Silent_p.E235E|HCK_ENST00000375852.2_Silent_p.E256E NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 256 SH2. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ATGCCTGGGAGATCCCTCGGG 0.602000 30 84 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89148328 89148328 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:89148328C>T ENST00000554922.1 - 21 3278 c.3030G>A c.(3028-3030)ctG>ctA p.L1010L EML5_ENST00000352093.5_Silent_p.L972L|EML5_ENST00000380664.5_Silent_p.L1010L NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1010 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CACAGATGGGCAGATAAGGGT 0.408000 44 54 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39103645 39103645 + Missense_Mutation SNP C C T rs142346085 by1000genomes TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:39103645C>T ENST00000379907.4 + 17 1989 c.1862C>T c.(1861-1863)gCt>gTt p.A621V ADAM32_ENST00000519315.1_Missense_Mutation_p.A515V|ADAM32_ENST00000437682.2_Missense_Mutation_p.A522V NM_145004.5 NP_659441 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 621 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) ATAATTAAGGCTTCAGCACAT 0.368000 29 168 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039328 11039328 + RNA SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:11039328C>T ENST00000470054.1 - 0 875 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCCATTTTATCTTCAATTTGA 0.378000 21 301 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6696452 6696452 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:6696452G>T ENST00000245907.6 - 23 2980 c.2888C>A c.(2887-2889)cCa>cAa p.P963Q NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 963 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GTCTGCAGGTGGGATGTCCTC 0.572000 36 22 4.4194e-11 4.87902e-11 1 1 0 TEP1 7011 broad.mit.edu 37 14 20876347 20876347 + Silent SNP T T A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:20876347T>A ENST00000262715.5 - 2 292 c.252A>T c.(250-252)acA>acT p.T84T TEP1_ENST00000556935.1_Silent_p.T84T NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 84 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGTCAGAAAGTGTGGCCAGGC 0.552000 75 69 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30571979 30571979 + Silent SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:30571979C>A ENST00000376511.2 - 14 1866 c.1314G>T c.(1312-1314)ctG>ctT p.L438L NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 438 Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GTCGGTCTGACAGTATCTCTC 0.542000 68 72 9.04393e-38 1.24185e-37 1 1 0 MTNR1B 4544 broad.mit.edu 37 11 92715238 92715238 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:92715238C>G ENST00000257068.2 + 2 855 c.849C>G c.(847-849)ccC>ccG p.P283P NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 283 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AAATGGCTCCCCAGATCCCTG 0.498000 116 172 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692251 116692251 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:116692251G>C ENST00000357780.3 - 3 637 c.523C>G c.(523-525)Ctg>Gtg p.L175V NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GAGGCCTGCAGGCTGTCGGCG 0.672000 119 122 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27475764 27475764 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:27475764C>T ENST00000356183.4 - 34 5764 c.5749G>A c.(5749-5751)Gaa>Aaa p.E1917K GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1917K NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1917 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GCGGTGTCTTCAAGAGCTGGG 0.652000 107 104 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105174812 105174812 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:105174812C>A ENST00000392634.4 + 9 1887 c.1775C>A c.(1774-1776)gCc>gAc p.A592D INF2_ENST00000330634.7_Missense_Mutation_p.A592D NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 592 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) AGCCCCGACGCCGAGGCTGTG 0.682000 OREG0022959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 62 1.34159e-35 1.82404e-35 1 1 0 PCDHA1 56147 broad.mit.edu 37 5 140167598 140167598 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:140167598G>A ENST00000504120.2 + 1 1723 c.1723G>A c.(1723-1725)Ggt>Agt p.G575S PCDHA1_ENST00000378133.3_Missense_Mutation_p.G575S|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCACTATTGGTGCAGTCAG 0.672000 91 44 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126754869 126754869 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:126754869C>T ENST00000274473.6 + 12 1630 c.1363C>T c.(1363-1365)Cgc>Tgc p.R455C MEGF10_ENST00000508365.1_Missense_Mutation_p.R455C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R455C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R455C NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 455 EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTGTTCCTCTCGCTGTGGCTG 0.458000 23 107 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17379440 17379440 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:17379440G>T ENST00000242057.4 + 10 2634 c.1991G>T c.(1990-1992)tGt>tTt p.C664F NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 664 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CCTTTCAATTGTCCACAGCAA 0.408000 81 78 6.71967e-41 9.27314e-41 1 1 0 LCA5L 150082 broad.mit.edu 37 21 40795035 40795035 + Missense_Mutation SNP A A G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:40795035A>G ENST00000358268.2 - 5 1232 c.704T>C c.(703-705)tTa>tCa p.L235S LCA5L_ENST00000380671.2_Missense_Mutation_p.L235S|LCA5L_ENST00000485895.2_Missense_Mutation_p.L235S|LCA5L_ENST00000288350.3_Missense_Mutation_p.L235S O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 235 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) AGTCTTCAGTAACTGGCTGTC 0.353000 39 55 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96222783 96222783 + Missense_Mutation SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:96222783C>T ENST00000453304.1 - 3 812 c.464G>A c.(463-465)aGc>aAc p.S155N UNC5C_ENST00000504962.1_Missense_Mutation_p.S155N|UNC5C_ENST00000506749.1_Missense_Mutation_p.S155N NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 155 Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CGCCTTCCGGCTCTTTGTGGT 0.498000 49 40 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98487961 98487961 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:98487961G>A ENST00000359863.4 + 4 363 c.154G>A c.(154-156)Gtc>Atc p.V52I TRRAP_ENST00000355540.3_Missense_Mutation_p.V52I|TRRAP_ENST00000446306.3_Missense_Mutation_p.V52I NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 52 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAATTAGAATGTCACGTCATC 0.328000 22 24 0 0 1 0 0 ENTPD8 377841 broad.mit.edu 37 9 140330634 140330634 + Missense_Mutation SNP T T G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr9:140330634T>G ENST00000371506.2 - 7 1064 c.881A>C c.(880-882)cAc>cCc p.H294P ENTPD8_ENST00000472938.1_Missense_Mutation_p.H294P|ENTPD8_ENST00000344119.2_Missense_Mutation_p.H294P NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 294 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GGGCGTGGCGTGGACACAGGG 0.657000 35 49 0 0 1 0 0 ZNF143 7702 broad.mit.edu 37 11 9522678 9522678 + Silent SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:9522678G>T ENST00000396602.2 + 11 1127 c.1008G>T c.(1006-1008)cgG>cgT p.R336R ZNF143_ENST00000396604.1_Silent_p.R335R|ZNF143_ENST00000396597.3_Silent_p.R305R|ZNF143_ENST00000530463.1_Silent_p.R335R|ZNF143_ENST00000299606.2_Silent_p.R308R NM_001282656.1|NM_001282657.1|NM_003442.5 NP_001269585.1|NP_001269586.1|NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 336 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) GCTGCGGTCGGTCCTTTACAA 0.423000 71 10 8.27458e-37 1.13339e-36 1 1 0 C19orf52 90580 broad.mit.edu 37 19 11040151 11040151 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:11040151G>T ENST00000270502.6 + 2 646 c.556G>T c.(556-558)Gac>Tac p.D186Y NM_138358.2 NP_612367.1 Q9BSF4 CS052_HUMAN chromosome 19 open reading frame 52 186 prostate(1) 1 CGACATCAACGACGACGAATT 0.672000 100 40 3.45148e-53 4.92304e-53 1 1 0 DNM1P46 196968 broad.mit.edu 37 15 100340361 100340361 + RNA SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr15:100340361G>A ENST00000341853.1 - 0 565 NR_003260.1 GCATCTCGTCGCGCCGCTGTG 0.612000 17 17 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16130386 16130386 + Silent SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:16130386C>T ENST00000399408.2 + 7 910 c.735C>T c.(733-735)aaC>aaT p.N245N ABCC1_ENST00000349029.5_Silent_p.N245N|ABCC1_ENST00000399410.3_Silent_p.N245N|ABCC1_ENST00000351154.5_Silent_p.N245N|ABCC1_ENST00000346370.5_Silent_p.N245N|ABCC1_ENST00000345148.5_Silent_p.N245N P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 245 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) GGTCCTTAAACAAGGAGGACA 0.532000 66 74 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37698748 37698748 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:37698748G>T ENST00000315215.7 + 16 2604 c.2241G>T c.(2239-2241)agG>agT p.R747S GPR124_ENST00000412232.2_Missense_Mutation_p.R964S Q96PE1 GP124_HUMAN G protein-coupled receptor 124 964 GPS. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCAACAGCAGGGCCTCCCTGG 0.637000 38 155 2.75727e-19 3.30873e-19 1 1 0 ZNF878 729747 broad.mit.edu 37 19 12167103 12167103 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:12167103G>C ENST00000602107.1 - 1 24 c.25C>G c.(25-27)Ctg>Gtg p.L9V C9JN71 ZN878_HUMAN zinc finger protein 878 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TACAACCCCAGATAGGACAGA 0.562000 4 4 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198713182 198713182 + Splice_Site SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:198713182G>T ENST00000367376.2 + 26 2862 c.e26-1 PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000442510.2_Splice_Site|PTPRC_ENST00000594404.1_Splice_Site|PTPRC_ENST00000348564.6_Splice_Site NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TGAAATTGTAGGCCCAGTACA 0.328000 32 24 3.76114e-14 4.29844e-14 1 1 0 RDM1 201299 broad.mit.edu 37 17 34251642 34251642 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:34251642G>A ENST00000394529.3 - 3 951 c.465C>T c.(463-465)ggC>ggT p.G155G RDM1_ENST00000591402.1_Intron|RDM1_ENST00000430160.2_Silent_p.G155G|RDM1_ENST00000394528.3_Silent_p.G178G|RDM1_ENST00000293273.6_Silent_p.G178G|RDM1_ENST00000431884.2_Silent_p.G178G|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000419453.2_Silent_p.G155G|RDM1_ENST00000394527.1_Intron NM_001163130.1 NP_001156602.1 Q8NG50 RDM1_HUMAN RAD52 motif 1 178 DNA recombination|DNA repair Cajal body|cytoplasm|nucleolus|PML body DNA binding|nucleotide binding|RNA binding breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1) 9 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CCTCCACCAAGCCAATGCCAG 0.483000 Other identified genes with known or suspected DNA repair function 113 10 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23388689 23388689 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:23388689G>A ENST00000343070.2 + 10 1562 c.1386G>A c.(1384-1386)tgG>tgA p.W462* SCNN1B_ENST00000307331.5_Nonsense_Mutation_p.W507*|SCNN1B_ENST00000568923.1_Nonsense_Mutation_p.W435*|SCNN1B_ENST00000568085.1_Nonsense_Mutation_p.W426* NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 462 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TGGCTGACTGGCCTTCTGAGG 0.587000 34 55 0 0 1 0 0 SNX27 81609 broad.mit.edu 37 1 151611551 151611551 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:151611551G>A ENST00000368843.3 + 2 619 c.499G>A c.(499-501)Gtc>Atc p.V167I SNX27_ENST00000368838.1_Missense_Mutation_p.V74I|SNX27_ENST00000458013.2_Missense_Mutation_p.V167I NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 167 PX. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GCCCATATCGGTCCCCAGATA 0.463000 49 73 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 9014215 9014215 + Splice_Site SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:9014215C>T ENST00000344836.4 - 5 810 c.e5+1 USP7_ENST00000535863.1_Splice_Site|USP7_ENST00000381886.4_Splice_Site NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 GAAAAACTTACGCAACTCCAT 0.378000 37 51 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153037013 153037013 + Missense_Mutation SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:153037013G>A ENST00000538966.1 + 15 2760 c.2489G>A c.(2488-2490)tGc>tAc p.C830Y PLXNB3_ENST00000361971.5_Missense_Mutation_p.C807Y|PLXNB3_ENST00000538282.1_Missense_Mutation_p.C417Y|PLXNB3_ENST00000538776.1_Missense_Mutation_p.C460Y|PLXNB3_ENST00000538543.1_Intron NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 807 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGCCTGGGCTGCCTGTGGTGT 0.672000 29 0 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63221386 63221386 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr17:63221386G>A ENST00000449996.3 + 18 1737 c.1665G>A c.(1663-1665)gaG>gaA p.E555E RGS9_ENST00000262406.9_Silent_p.E558E|RGS9_ENST00000443584.3_Silent_p.E555E NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 558 E -> D (in Ref. 7; AAC25430). intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 AGAGCAGCGAGGCCTCCCTCG 0.672000 104 165 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124048787 124048787 + Missense_Mutation SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:124048787C>G ENST00000360013.3 + 8 1485 c.1358C>G c.(1357-1359)gCa>gGa p.A453G KALRN_ENST00000240874.3_Missense_Mutation_p.A453G|KALRN_ENST00000460856.1_Missense_Mutation_p.A453G NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 453 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 CTAGAGCTGGCAATCCACCAC 0.562000 71 71 0 0 1 0 0 FAM43B 163933 broad.mit.edu 37 1 20880268 20880270 + In_Frame_Del DEL GAG GAG - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:20880268_20880270delGAG ENST00000332947.4 + 1 1337_1339 c.802_804delGAG c.(802-804)gagdel p.E272del NM_207334.2 NP_997217.1 Q6ZT52 FA43B_HUMAN family with sequence similarity 43, member B 272 large_intestine(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) ggaggaggacgaggaggaggagg 0.744 2 4 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cgagga>cga p.G69del HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 69 Poly-Gly. G -> GG (in Ref. 3; ABC40718). axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 7 161 --- --- --- --- PPARG 5468 broad.mit.edu 37 3 12422901 12422902 + Frame_Shift_Ins INS - - C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr3:12422901_12422902insC ENST00000397026.2 + 5 708_709 c.325_326insC c.(325-327)tccfs p.S109fs PPARG_ENST00000397000.1_Frame_Shift_Ins_p.S103fs|PPARG_ENST00000309576.6_Frame_Shift_Ins_p.S103fs|PPARG_ENST00000397012.2_Frame_Shift_Ins_p.S103fs|PPARG_ENST00000397015.2_Frame_Shift_Ins_p.S103fs|PPARG_ENST00000287820.6_Frame_Shift_Ins_p.S131fs|PPARG_ENST00000397010.2_Frame_Shift_Ins_p.S103fs|PPARG_ENST00000539812.1_Frame_Shift_Ins_p.S101fs P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 131 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TGAAGAGCCTTCCAACTCCCTC 0.426 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 15 72 --- --- --- --- NOP14 8602 broad.mit.edu 37 4 2941321 2941327 + Frame_Shift_Del DEL GGCAGAG GGCAGAG - rs138901812 byFrequency TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr4:2941321_2941327delGGCAGAG ENST00000416614.2 - 16 2310_2316 c.2245_2251delCTCTGCC c.(2245-2253)ctctgccggfs p.LCR749fs NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000502735.1_Frame_Shift_Del_p.LCR749fs|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000512802.1_RNA|NOP14_ENST00000398071.4_Frame_Shift_Del_p.LCR749fs|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14-AS1_ENST00000507999.1_RNA|NOP14_ENST00000314262.6_Frame_Shift_Del_p.LCR749fs P78316 NOP14_HUMAN NOP14 nucleolar protein 749 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 GTCAGCGGCCGGCAGAGCTGCTTCTGG 0.589 17 49 --- --- --- --- CTD-2296D1.4 0 broad.mit.edu 37 5 7372616 7372616 + RNA DEL A A - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr5:7372616delA ENST00000513219.1 - 0 202 caccaccaccacctccaccat 0.597 2 4 --- --- --- --- HIST1H2BB 3018 broad.mit.edu 37 6 26043564 26043564 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:26043564delC ENST00000357905.2 - 1 321 c.322delG c.(322-324)gctfs p.A108fs NM_021062.2 NP_066406.1 P33778 H2B1B_HUMAN histone cluster 1, H2bb 108 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GCATGCTTAGCCAGCTCCCCA 0.552 49 53 --- --- --- --- RGL2 5863 broad.mit.edu 37 6 33262770 33262771 + Frame_Shift_Ins INS - - A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr6:33262770_33262771insA ENST00000497454.1 - 10 1756_1757 c.1261_1262insT c.(1261-1263)tctfs p.S421fs PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Frame_Shift_Ins_p.S339fs|RGL2_ENST00000437840.2_5'UTR NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 421 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 CCGGGAGCCAGACCTCGGGGCC 0.589 8 5 --- --- --- --- ADCY1 107 broad.mit.edu 37 7 45725689 45725689 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr7:45725689delC ENST00000297323.7 + 13 2224 c.2202delC c.(2200-2202)tgcfs p.C734fs NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 734 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TGCTCTGCTGCCTGGTGGGCA 0.622 37 56 --- --- --- --- PCMTD1 115294 broad.mit.edu 37 8 52733063 52733063 + Frame_Shift_Del DEL T T - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr8:52733063delT ENST00000360540.5 - 7 1328 c.922delA c.(922-924)atgfs p.M308fs PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs|PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 308 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) tcctcttccattttttcatcc 0.373 8 132 --- --- --- --- EPS8L2 64787 broad.mit.edu 37 11 722404 722404 + Frame_Shift_Del DEL G G - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr11:722404delG ENST00000533256.1 + 14 1438 c.1063delG c.(1063-1065)gtcfs p.V355fs EPS8L2_ENST00000530636.1_Frame_Shift_Del_p.V355fs|EPS8L2_ENST00000526198.1_Frame_Shift_Del_p.V371fs|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Frame_Shift_Del_p.V355fs Q9H6S3 ES8L2_HUMAN EPS8-like 2 355 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCCCAGATCGTCAACACCTG 0.657 47 6 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:75601711_75601712insA ENST00000303575.4 - 5 590 c.e5-2 RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TTGTTGACTCTAAAAAAAAACA 0.426 8 99 --- --- --- --- EXOC3L4 91828 broad.mit.edu 37 14 103566640 103566640 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr14:103566640delC ENST00000380069.3 + 1 160 c.84delC c.(82-84)ggcfs p.G28fs NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 28 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 CAGCTCAGGGCTCCCGGCGAA 0.657 7 15 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81232364 81232364 + RNA DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr16:81232364delC ENST00000337114.4 - 0 1445 PKD1L2_ENST00000525539.1_RNA NM_001076780.1 NP_001070248.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCTCAAAGGTCAGCTCTTCCG 0.562 65 61 --- --- --- --- QTRT1 81890 broad.mit.edu 37 19 10822952 10822953 + Frame_Shift_Ins INS - - C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:10822952_10822953insC ENST00000250237.5 + 6 772_773 c.762_763insC c.(763-765)cccfs p.P255fs NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 255 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CGAAGGACAAGCCCCGATATCT 0.639 39 318 --- --- --- --- CILP2 148113 broad.mit.edu 37 19 19650559 19650559 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:19650559delC ENST00000586018.1 + 2 238 c.136delC c.(136-138)cccfs p.P46fs CILP2_ENST00000291495.5_Frame_Shift_Del_p.P46fs Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 46 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CACCGGCCAGCCCTCACCAGC 0.667 72 104 --- --- --- --- TPRX1 284355 broad.mit.edu 37 19 48305975 48305975 + Frame_Shift_Del DEL G G - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:48305975delG ENST00000535759.1 - 4 583 c.584delC c.(583-585)ccgfs p.P195fs TPRX1_ENST00000322175.3_Frame_Shift_Del_p.P98fs|TPRX1_ENST00000543508.1_Frame_Shift_Del_p.P98fs Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 98 Gly-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) ggcagggATCGGGCCAGGGCC 0.687 4 4 --- --- --- --- PPFIA3 8541 broad.mit.edu 37 19 49649253 49649253 + Frame_Shift_Del DEL G G - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:49649253delG ENST00000334186.4 + 22 3148 c.2799delG c.(2797-2799)acgfs p.T934fs PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.T934fs NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 934 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TTACGGCCACGACCAAGCCCG 0.642 OREG0025618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 54 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ctgccc>ccc p.L8del SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 7 100 --- --- --- --- TRIB3 57761 broad.mit.edu 37 20 377174 377174 + Frame_Shift_Del DEL C C - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:377174delC ENST00000217233.3 + 4 1470 c.917delC c.(916-918)gccfs p.A306fs TRIB3_ENST00000422053.2_Frame_Shift_Del_p.A333fs NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 306 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) CGGCTCACAGCCACAGGCATC 0.687 45 197 --- --- --- --- SPTLC3 55304 broad.mit.edu 37 20 13134777 13134777 + Frame_Shift_Del DEL T T - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:13134777delT ENST00000399002.2 + 10 1681 c.1407delT c.(1405-1407)ggtfs p.G469fs SPTLC3_ENST00000378194.4_3'UTR NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 469 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) ATATGCCTGGTAAAGTAGCGT 0.408 32 87 --- --- --- --- ZNFX1 57169 broad.mit.edu 37 20 47864087 47864088 + In_Frame_Ins INS - - GGC TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr20:47864087_47864088insGGC ENST00000396105.1 - 14 5719_5720 c.5473_5474insGCC c.(5473-5475)ctg>cGCCtg p.1824_1825insR ZNFX1_ENST00000371752.1_In_Frame_Ins_p.1824_1825insR|ZNFX1_ENST00000371754.4_Intron NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1824 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGAGATGCCCAGGCCAGAGCAG 0.495 42 145 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11049668 11049668 + RNA DEL T T - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chr21:11049668delT ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGAATTTAAATTTTTTCTGAC 0.338 12 163 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44918557 44918558 + Frame_Shift_Ins INS - - G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:44918557_44918558insG ENST00000377967.4 + 12 1081_1082 c.1040_1041insG c.(1039-1044)ttggacfs p.D348fs KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.D348fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.D348fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.D348fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 348 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GCTGTACAATTGGACCATGGCC 0.431 """D, N, F, S""" """renal, oesophageal SCC, MM""" 39 9 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123184129 123184130 + Frame_Shift_Del DEL AA AA - TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880d0e3d-c056-464e-af90-2b308666a1e3 dc83b106-af68-430d-b92c-24bb7199925e g.chrX:123184129_123184130delAA ENST00000371160.1 + 11 1277_1278 c.987_988delAA c.(985-990)ttaaaafs p.K330fs STAG2_ENST00000218089.9_Frame_Shift_Del_p.K330fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.K330fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.K330fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.K330fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.K261fs|STAG2_ENST00000469481.1_Intron NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 330 SCD. cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 ACAGTTATTTAAAATATGTTGG 0.401 141 18 --- --- --- ---