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 CA6 765 broad.mit.edu 37 1 9031007 9031007 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:9031007C>T ENST00000377443.2 + 7 815 c.811C>T c.(811-813)Cac>Tac p.H271Y CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.H211Y|CA6_ENST00000377436.3_Missense_Mutation_p.H271Y NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 271 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GCCCCTGAACCACAGAGTGGT 0.532 16 84 --- --- --- --- NBPF10 100132406 broad.mit.edu 37 1 145368503 145368503 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:145368503G>C ENST00000342960.5 + 84 10516 c.10481G>C c.(10480-10482)tGt>tCt p.C3494S NBPF10_ENST00000369338.1_Missense_Mutation_p.C610S|NBPF10_ENST00000369339.3_Missense_Mutation_p.C612S NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3494 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CTGGATAGATGTTATTCGACT 0.463 10 703 --- --- --- --- SMCP 4184 broad.mit.edu 37 1 152857072 152857072 + Silent SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:152857072C>T ENST00000368765.3 + 2 324 c.174C>T c.(172-174)tgC>tgT p.C58C NM_030663.2 NP_109588.2 P49901 MCSP_HUMAN sperm mitochondria-associated cysteine-rich protein 58 7 X 7 (OR 8) AA approximate repeats. penetration of zona pellucida|sperm motility mitochondrial membrane breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1) 8 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACAATCACTGCTGCCAGCCAA 0.537 18 214 --- --- --- --- INTS3 65123 broad.mit.edu 37 1 153732836 153732836 + Silent SNP C C A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:153732836C>A ENST00000456435.1 + 12 1855 c.669C>A c.(667-669)atC>atA p.I223I INTS3_ENST00000318967.2_Silent_p.I429I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.I429I|INTS3_ENST00000512605.1_Silent_p.I223I Q68E01 INT3_HUMAN integrator complex subunit 3 430 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACCCAGCCATCACTGCCACAC 0.522 5 58 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158605702 158605702 + Splice_Site SNP C C A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:158605702C>A ENST00000368147.4 - 38 5613 c.e38+1 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) ATCCCACTCACCGGGCCTTGG 0.537 5 124 --- --- --- --- ZNF281 23528 broad.mit.edu 37 1 200376763 200376763 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:200376763G>C ENST00000294740.3 - 2 2195 c.2071C>G c.(2071-2073)Caa>Gaa p.Q691E ZNF281_ENST00000367353.1_Missense_Mutation_p.Q691E|ZNF281_ENST00000367352.3_Missense_Mutation_p.Q655E NM_001281293.1|NM_001281294.1|NM_012482.4 NP_001268222.1|NP_001268223.1|NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 CTGACAAATTGGAAACCGTGT 0.388 6 169 --- --- --- --- ZNF281 23528 broad.mit.edu 37 1 200376772 200376772 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:200376772G>C ENST00000294740.3 - 2 2186 c.2062C>G c.(2062-2064)Cac>Gac p.H688D ZNF281_ENST00000367353.1_Missense_Mutation_p.H688D|ZNF281_ENST00000367352.3_Missense_Mutation_p.H652D NM_001281293.1|NM_001281294.1|NM_012482.4 NP_001268222.1|NP_001268223.1|NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 TGGAAACCGTGTCCAAGAGTA 0.393 7 177 --- --- --- --- CSRP1 1465 broad.mit.edu 37 1 201453913 201453913 + Silent SNP A A G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr1:201453913A>G ENST00000367306.1 - 7 873 c.510T>C c.(508-510)tgT>tgC p.C170C CSRP1_ENST00000532460.1_Silent_p.C170C|CSRP1_ENST00000526723.1_Silent_p.C137C|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000533432.1_Silent_p.C170C|CSRP1_ENST00000340006.2_Silent_p.C170C P21291 CSRP1_HUMAN cysteine and glycine-rich protein 1 170 LIM zinc-binding 2. nucleus zinc ion binding large_intestine(3)|lung(2)|ovary(1) 6 TTTTAGCATAACATCCTGCAG 0.592 6 28 --- --- --- --- SPTBN1 6711 broad.mit.edu 37 2 54895540 54895540 + Missense_Mutation SNP A A G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr2:54895540A>G ENST00000356805.4 + 36 7210 c.6929A>G c.(6928-6930)aAa>aGa p.K2310R NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 2310 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) TCCTCTGATAAACACGAGGTG 0.592 27 66 --- --- --- --- MTIF2 4528 broad.mit.edu 37 2 55489556 55489556 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr2:55489556C>T ENST00000394600.3 - 6 963 c.227G>A c.(226-228)gGa>gAa p.G76E MTIF2_ENST00000263629.4_Missense_Mutation_p.G76E|MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Missense_Mutation_p.G76E NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 76 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 TTTCCATGGTCCTTCTTCCTA 0.318 5 103 --- --- --- --- MTERFD2 130916 broad.mit.edu 37 2 242039186 242039186 + Nonsense_Mutation SNP C C A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr2:242039186C>A ENST00000391980.2 - 2 203 c.145G>T c.(145-147)Gga>Tga p.G49* MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000406593.1_Intron NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 49 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) ATGACCCCTCCATTGGAGGCT 0.512 9 94 --- --- --- --- CAV3 859 broad.mit.edu 37 3 8787407 8787407 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr3:8787407G>C ENST00000343849.2 + 2 387 c.310G>C c.(310-312)Gtg>Ctg p.V104L CAV3_ENST00000397368.2_Missense_Mutation_p.V104L|CAV3_ENST00000472766.1_Intron NM_001234.4|NM_033337.2 NP_001225.1|NP_203123.1 P56539 CAV3_HUMAN caveolin 3 104 Required for interaction with DAG1. cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 CTGGGCGGTGGTGCCATGCAT 0.607 7 54 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42684054 42684054 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr3:42684054C>T ENST00000232978.8 + 14 4296 c.4108C>T c.(4108-4110)Cgg>Tgg p.R1370W RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1370 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) AACCAGAAGCCGGAGCAGTTC 0.438 5 84 --- --- --- --- SPICE1 152185 broad.mit.edu 37 3 113172713 113172713 + Missense_Mutation SNP T T C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr3:113172713T>C ENST00000295872.4 - 14 2001 c.1742A>G c.(1741-1743)gAg>gGg p.E581G NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 581 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TAAGGTCTTCTCTTCCCAATT 0.403 4 92 --- --- --- --- ARHGAP31 57514 broad.mit.edu 37 3 119134256 119134256 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr3:119134256G>C ENST00000264245.4 + 12 4012 c.3480G>C c.(3478-3480)caG>caC p.Q1160H NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1160 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 TTTACTCCCAGGACCCCCAGG 0.532 30 40 --- --- --- --- CLCN3 1182 broad.mit.edu 37 4 170625290 170625290 + Missense_Mutation SNP A A T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr4:170625290A>T ENST00000513761.1 + 10 2264 c.1705A>T c.(1705-1707)Att>Ttt p.I569F CLCN3_ENST00000504131.2_Missense_Mutation_p.I552F|CLCN3_ENST00000360642.3_Missense_Mutation_p.I542F|CLCN3_ENST00000347613.4_Missense_Mutation_p.I569F NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 569 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GGCTGATTGCATTACACCTGG 0.517 4 52 --- --- --- --- ANKRD55 79722 broad.mit.edu 37 5 55422829 55422829 + Silent SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:55422829C>T ENST00000341048.4 - 8 868 c.717G>A c.(715-717)gcG>gcA p.A239A ANKRD55_ENST00000505970.2_Intron|ANKRD55_ENST00000504958.2_Silent_p.A196A NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 238 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) AGCCCGCTGCCGCTGCGATAT 0.493 4 135 --- --- --- --- PCDHGA9 56107 broad.mit.edu 37 5 140784549 140784549 + Missense_Mutation SNP G G T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:140784549G>T ENST00000573521.1 + 1 2030 c.2030G>T c.(2029-2031)aGt>aTt p.S677I PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCTGGGCAGTCTTCAGATC 0.592 21 127 --- --- --- --- SLC26A2 1836 broad.mit.edu 37 5 149359955 149359955 + Missense_Mutation SNP T T A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:149359955T>A ENST00000286298.4 + 3 1067 c.799T>A c.(799-801)Tct>Act p.S267T NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 267 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TATTCTTACATCTCAGGCCAA 0.473 6 141 --- --- --- --- SPDL1 54908 broad.mit.edu 37 5 169015536 169015536 + Missense_Mutation SNP A A T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr5:169015536A>T ENST00000265295.4 + 2 395 c.116A>T c.(115-117)aAt>aTt p.N39I SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 GAATTACAGAATCAATTGGAT 0.408 16 45 --- --- --- --- MOG 4340 broad.mit.edu 37 6 29627139 29627139 + Silent SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr6:29627139G>C ENST00000376894.4 + 2 250 c.132G>C c.(130-132)ctG>ctC p.L44L MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Silent_p.L44L|MOG_ENST00000533330.2_Silent_p.L44L|MOG_ENST00000376917.3_Silent_p.L44L|MOG_ENST00000396704.3_Silent_p.L44L|MOG_ENST00000376902.3_Silent_p.L44L|MOG_ENST00000431798.2_Silent_p.L44L|MOG_ENST00000416766.2_Silent_p.L44L|MOG_ENST00000494692.1_Silent_p.L44L|MOG_ENST00000376898.3_Silent_p.L44L|MOG_ENST00000396701.2_Silent_p.L44L|MOG_ENST00000490427.1_Intron|MOG_ENST00000483013.1_Intron Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 44 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 TCCGGGCTCTGGTCGGGGATG 0.552 63 208 --- --- --- --- UPP1 7378 broad.mit.edu 37 7 48146608 48146608 + Missense_Mutation SNP T T C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr7:48146608T>C ENST00000331803.4 + 8 1198 c.575T>C c.(574-576)cTg>cCg p.L192P UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.L192P|UPP1_ENST00000395564.4_Missense_Mutation_p.L192P|UPP1_ENST00000429491.2_Missense_Mutation_p.L55P Q16831 UPP1_HUMAN uridine phosphorylase 1 192 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 GAGCTGTTGCTGTGTTCTGCA 0.542 22 81 --- --- --- --- CDCA2 157313 broad.mit.edu 37 8 25341516 25341516 + Silent SNP A A C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr8:25341516A>C ENST00000330560.3 + 10 1632 c.1155A>C c.(1153-1155)ctA>ctC p.L385L CDCA2_ENST00000380665.3_Silent_p.L370L|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 385 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) CTGCCTTTCTAAATATGAGGA 0.338 13 35 --- --- --- --- CDCA2 157313 broad.mit.edu 37 8 25341608 25341608 + Missense_Mutation SNP A A T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr8:25341608A>T ENST00000330560.3 + 10 1724 c.1247A>T c.(1246-1248)aAa>aTa p.K416I CDCA2_ENST00000380665.3_Missense_Mutation_p.K401I|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 416 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) CCATTGCGTAAAGGAGGAACA 0.438 23 67 --- --- --- --- ARHGEF39 84904 broad.mit.edu 37 9 35662653 35662653 + Silent SNP A A G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr9:35662653A>G ENST00000378387.3 - 7 876 c.759T>C c.(757-759)gaT>gaC p.D253D ARHGEF39_ENST00000378395.2_Silent_p.D217D|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000343259.3_Intron NM_032818.2 NP_116207.2 Rho guanine nucleotide exchange factor (GEF) 39 TGAGGAGCACATCAGTGAAGA 0.647 6 19 --- --- --- --- TLN1 7094 broad.mit.edu 37 9 35725562 35725562 + Splice_Site SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr9:35725562G>A ENST00000314888.9 - 2 483 c.130C>T c.(130-132)Ccc>Tcc p.P44S TLN1_ENST00000540444.1_Splice_Site_p.P44S NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 44 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCAGACTCACGAGGACCAGCT 0.587 49 100 --- --- --- --- MED27 9442 broad.mit.edu 37 9 134889831 134889831 + Silent SNP T T C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr9:134889831T>C ENST00000292035.5 - 3 435 c.372A>G c.(370-372)gcA>gcG p.A124A MED27_ENST00000357028.2_Silent_p.A124A NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 124 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) AAAGGCCAGATGCTAGTCCTG 0.423 6 36 --- --- --- --- FAM196A 642938 broad.mit.edu 37 10 128973613 128973613 + Silent SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr10:128973613G>A ENST00000522781.1 - 4 1602 c.1047C>T c.(1045-1047)atC>atT p.I349I DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.I349I NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 349 p.I349I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TATGAGGCACGATTCGTTGGC 0.552 4 224 --- --- --- --- SLC22A11 55867 broad.mit.edu 37 11 64326610 64326610 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr11:64326610G>A ENST00000301891.4 + 2 771 c.397G>A c.(397-399)Gac>Aac p.D133N SLC22A11_ENST00000377585.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.D133N NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 133 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) CTTGCAGTGGGACCTGGTGTG 0.637 31 78 --- --- --- --- GUCY1A2 2977 broad.mit.edu 37 11 106810483 106810483 + Silent SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr11:106810483C>T ENST00000526355.2 - 4 1377 c.909G>A c.(907-909)aaG>aaA p.K303K GUCY1A2_ENST00000282249.2_Silent_p.K303K|GUCY1A2_ENST00000347596.2_Silent_p.K303K NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GTGGAAGGTTCTTCATGATAT 0.428 9 42 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6703665 6703665 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr12:6703665G>A ENST00000309577.6 - 15 2436 c.2273C>T c.(2272-2274)aCt>aTt p.T758I CHD4_ENST00000357008.2_Missense_Mutation_p.T758I|CHD4_ENST00000544040.1_Missense_Mutation_p.T751I|CHD4_ENST00000544484.1_Missense_Mutation_p.T755I Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 758 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGTCTGTACAGTTTTCCCAAG 0.493 26 65 --- --- --- --- SNAPC1 6617 broad.mit.edu 37 14 62233593 62233593 + Splice_Site SNP G G T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr14:62233593G>T ENST00000216294.4 + 2 232 c.e2-1 RP11-618G20.1_ENST00000555937.1_RNA NM_003082.3 NP_003073.1 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, polypeptide 1, 43kDa regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) CTGTTTATTAGTGGCAGAATG 0.308 9 15 --- --- --- --- IGHV1-46 28465 broad.mit.edu 37 14 106967145 106967145 + RNA SNP G G T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr14:106967145G>T ENST00000390622.2 - 0 558 TGGTGACTCTGCCCTGGAACT 0.557 54 191 --- --- --- --- MSRB1 51734 broad.mit.edu 37 16 1990838 1990838 + Missense_Mutation SNP G G T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr16:1990838G>T ENST00000361871.3 - 3 429 c.260C>A c.(259-261)cCc>cAc p.P87H MSRB1_ENST00000399753.2_Silent_p.P208P|MSRB1_ENST00000564908.1_Silent_p.P133P NM_016332.2 NP_057416.1 Q9NZV6 MSRB1_HUMAN methionine sulfoxide reductase B1 87 protein repair cytoplasm|nucleus peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding L-Methionine(DB00134) CCCCGGCTTGGGGCCGTCGTT 0.577 6 78 --- --- --- --- PYCARD 29108 broad.mit.edu 37 16 31213495 31213495 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr16:31213495C>T ENST00000247470.9 - 2 605 c.304G>A c.(304-306)Gcc>Acc p.A102T PYCARD_ENST00000350605.4_Intron|C16orf98_ENST00000561916.2_Intron NM_013258.4 NP_037390.2 Q9ULZ3 ASC_HUMAN PYD and CARD domain containing 102 induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding NS(1)|kidney(1) 2 TGAGGAGGGGCCTGGATCCCA 0.701 11 30 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696425 47696425 + Missense_Mutation SNP A A C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr17:47696425A>C ENST00000393331.3 - 7 868 c.398T>G c.(397-399)tTc>tGc p.F133C SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133C(3)|p.F133S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GAATTTCTTGAATCCCCAGTC 0.448 Prostate(2;0.17) 31 136 --- --- --- --- COX11 1353 broad.mit.edu 37 17 53040259 53040259 + Missense_Mutation SNP T T G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr17:53040259T>G ENST00000299335.3 - 4 804 c.666A>C c.(664-666)gaA>gaC p.E222D NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 222 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 TAAGCCTTTGTTCTTCAAAAC 0.308 7 67 --- --- --- --- USP32 84669 broad.mit.edu 37 17 58300782 58300782 + Missense_Mutation SNP T T G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr17:58300782T>G ENST00000300896.4 - 14 1792 c.1598A>C c.(1597-1599)gAa>gCa p.E533A USP32_ENST00000592339.1_Missense_Mutation_p.E203A NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 533 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CTTTACTGGTTCTTGAGTTAC 0.338 16 33 --- --- --- --- DSC3 1825 broad.mit.edu 37 18 28576863 28576863 + Missense_Mutation SNP C C T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr18:28576863C>T ENST00000434452.1 - 15 2541 c.2387G>A c.(2386-2388)gGg>gAg p.G796E DSC3_ENST00000360428.4_Missense_Mutation_p.G796E NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 796 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) ATGATGATGCCCAGCCCCCCG 0.517 13 42 --- --- --- --- TNFSF14 8740 broad.mit.edu 37 19 6670031 6670031 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:6670031G>A ENST00000326176.9 - 2 431 c.50C>T c.(49-51)aCc>aTc p.T17I TNFSF14_ENST00000245912.3_Missense_Mutation_p.T17I|TNFSF14_ENST00000599359.1_Missense_Mutation_p.T17I NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 17 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 TGGGATGTCGGTCTGTCCATC 0.627 6 137 --- --- --- --- FCGRT 2217 broad.mit.edu 37 19 50028719 50028719 + Missense_Mutation SNP C C G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:50028719C>G ENST00000221466.5 + 6 1363 c.877C>G c.(877-879)Cca>Gca p.P293A FCGRT_ENST00000426395.3_Missense_Mutation_p.P293A|FCGRT_ENST00000599988.1_Missense_Mutation_p.P27A|FCGRT_ENST00000596975.1_Missense_Mutation_p.P201A NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 293 Connecting peptide. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) TGCAGAATCTCCAGCCAAGTC 0.617 13 137 --- --- --- --- ZNF813 126017 broad.mit.edu 37 19 53993793 53993793 + Missense_Mutation SNP G G C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:53993793G>C ENST00000396403.4 + 4 435 c.307G>C c.(307-309)Gaa>Caa p.E103Q ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E103K(1) large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TCAGTGGCAAGAAGATGAAAG 0.403 38 108 --- --- --- --- NLRP13 126204 broad.mit.edu 37 19 56424212 56424212 + Missense_Mutation SNP T T G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:56424212T>G ENST00000588751.1 - 5 995 c.971A>C c.(970-972)gAg>gCg p.E324A NLRP13_ENST00000342929.3_Missense_Mutation_p.E324A Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 324 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATCCAAGCTCTCAGAGCGTGA 0.458 17 75 --- --- --- --- ZFP28 140612 broad.mit.edu 37 19 57065054 57065054 + Splice_Site SNP C C G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr19:57065054C>G ENST00000301318.3 + 8 971 c.900C>G c.(898-900)ggC>ggG p.G300G AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) ATCTTTCAGGCCAGCGATCTG 0.378 8 53 --- --- --- --- EIF2S3 1968 broad.mit.edu 37 X 24075812 24075812 + Silent SNP T T C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chrX:24075812T>C ENST00000253039.4 + 4 577 c.324T>C c.(322-324)agT>agC p.S108S NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 108 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 GTGGGAGCAGTACACCTGACG 0.373 4 34 --- --- --- --- BRPF1 7862 broad.mit.edu 37 3 9783062 9783063 + Frame_Shift_Ins INS - - G TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr3:9783062_9783063insG ENST00000383829.2 + 5 2197_2198 c.1793_1794insG c.(1792-1797)ttggagfs p.E599fs BRPF1_ENST00000457855.1_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000302054.3_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000433861.2_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000424362.1_Frame_Shift_Ins_p.E599fs NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 599 Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CGGCATGACTTGGAGCGAGCTC 0.510 52 99 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89717695 89717696 + Frame_Shift_Ins INS - - T TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58fdfbae-715d-4b84-9c40-5f5823a79bef 610916cc-7c38-42e8-8b8d-591284520b3e g.chr10:89717695_89717696insT ENST00000371953.3 + 7 2077_2078 c.720_721insT c.(721-723)tttfs p.F241fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 241 C2 tensin-type. F -> S (in MCEPHAS). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.F241fs*1(1)|p.Y240*(1)|p.R234fs*9(1)|p.F241fs*17(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGTTCATGTACTTTGAGTTCCC 0.411 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 28 58 --- --- --- ---