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 KCNIP2 30819 broad.mit.edu 37 10 103587157 103587157 + Splice_Site SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:103587157C>A ENST00000358038.3 - 9 1063 c.712G>T c.(712-714)Gat>Tat p.D238Y KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000370046.1_Splice_Site_p.D170Y|KCNIP2_ENST00000343195.4_Splice_Site_p.D206Y|KCNIP2_ENST00000356640.2_Splice_Site_p.D256Y|KCNIP2_ENST00000461105.1_Splice_Site_p.D271Y|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000353068.3_Splice_Site_p.D213Y|KCNIP2_ENST00000348850.5_Splice_Site_p.D211Y NM_173192.2|NM_173193.2|NM_173195.2 NP_775284.1|NP_775285.1|NP_775287.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 256 EF-hand 4. clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) ATGTTCTCATCCTGTGGCCAT 0.522000 25 111 1.55469e-16 1.62664e-16 1 1 0 CDH23 64072 broad.mit.edu 37 10 73326687 73326687 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:73326687C>T ENST00000224721.6 + 6 638 c.633C>T c.(631-633)aaC>aaT p.N211N CDH23_ENST00000299366.7_Silent_p.N251N|CDH23_ENST00000398842.3_Silent_p.N206N|CDH23_ENST00000398809.4_Silent_p.N206N|CDH23_ENST00000461841.3_Silent_p.N251N NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 206 Cadherin 2. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TCACGGTCAACGCCACAGTGA 0.627000 4 24 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132270153 132270153 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:132270153G>A ENST00000265343.5 - 3 983 c.604C>T c.(604-606)Cac>Tac p.H202Y AFF4_ENST00000378595.3_Missense_Mutation_p.H202Y|AFF4_ENST00000491831.1_5'UTR NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 202 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGCTATGGTGATCATTCCCA 0.488000 21 73 0 0 1 0 0 LBX2 85474 broad.mit.edu 37 2 74725261 74725261 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:74725261G>A ENST00000460508.3 - 2 834 c.378C>T c.(376-378)gtC>gtT p.V126V LBX2_ENST00000377566.4_Silent_p.V130V|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_3'UTR NM_001009812.1 NP_001009812.1 Q6XYB7 LBX2_HUMAN ladybird homeobox 2 130 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1) 4 GGAACCAAGTGACCACCTGCG 0.667000 15 34 0 0 1 0 0 C19orf33 64073 broad.mit.edu 37 19 38795250 38795250 + Missense_Mutation SNP G G A rs45437199 by1000genomes TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:38795250G>A ENST00000588605.1 + 3 282 c.184G>A c.(184-186)Gca>Aca p.A62T C19orf33_ENST00000301246.5_Intron|CTB-102L5.4_ENST00000591889.1_Silent_p.P129P Q9GZP8 IMUP_HUMAN chromosome 19 open reading frame 33 0 nucleus all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCTCACTGCCGCACCTCCATC 0.672000 3 17 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160824175 160824175 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:160824175C>T ENST00000283243.7 - 20 2985 c.2779G>A c.(2779-2781)Gaa>Aaa p.E927K PLA2R1_ENST00000392771.1_Missense_Mutation_p.E927K NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 927 C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GAACACTCTTCACTACCCCAG 0.403000 18 87 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67145021 67145021 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:67145021C>T ENST00000269081.4 - 40 5488 c.4579G>A c.(4579-4581)Gat>Aat p.D1527N ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1527 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TCAATTTTATCATCAACATTT 0.348000 18 71 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15512157 15512157 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:15512157G>A ENST00000397410.5 - 5 750 c.620C>T c.(619-621)gCc>gTc p.A207V AKAP8L_ENST00000595465.2_Missense_Mutation_p.A146V NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 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 CTGGCCCCGGGCCCCCATGGG 0.692000 13 54 0 0 1 0 0 CD2AP 23607 broad.mit.edu 37 6 47544789 47544789 + Nonsense_Mutation SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:47544789G>T ENST00000359314.5 + 8 1309 c.853G>T c.(853-855)Gaa>Taa p.E285* NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 285 SH3 3. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AGGTACTAATGAAGATGAACT 0.284000 11 113 3.83957e-06 3.91485e-06 1 1 0 IFNGR2 3460 broad.mit.edu 37 21 34804515 34804515 + Nonsense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr21:34804515C>G ENST00000290219.6 + 5 1241 c.593C>G c.(592-594)tCa>tGa p.S198* IFNGR2_ENST00000381995.1_Nonsense_Mutation_p.S217*|IFNGR2_ENST00000405436.1_Nonsense_Mutation_p.S119* NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 198 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) AACTCCATTTCATTGGATAAC 0.403000 7 80 0 0 1 0 0 ZNF669 79862 broad.mit.edu 37 1 247265040 247265040 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:247265040C>G ENST00000343381.6 - 3 614 c.442G>C c.(442-444)Gat>Cat p.D148H ZNF669_ENST00000358785.4_Intron|ZNF669_ENST00000448299.2_Missense_Mutation_p.D62H|ZNF669_ENST00000366501.1_Missense_Mutation_p.K60N|ZNF669_ENST00000366500.1_Intron NM_024804.2 NP_079080.2 Q96BR6 ZN669_HUMAN zinc finger protein 669 148 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) TACCTTATATCTTTCCCAGGT 0.338000 11 55 0 0 1 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153870637 153870637 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:153870637C>G ENST00000356448.4 + 6 1687 c.1403C>G c.(1402-1404)tCt>tGt p.S468C ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.S468C NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 468 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 TTTAAAAATTCTAAAGAACTG 0.363000 5 8 0 0 1 0 0 NELFA 7469 broad.mit.edu 37 4 1991499 1991499 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:1991499C>T ENST00000382882.3 - 3 1630 c.513G>A c.(511-513)gtG>gtA p.V171V NELFA_ENST00000411638.2_Silent_p.V160V|NELFA_ENST00000542778.1_Silent_p.V25V negative elongation factor complex member A GAAAATGCTTCACCGGGGGAG 0.612000 50 94 0 0 1 0 0 CHST6 4166 broad.mit.edu 37 16 75513367 75513367 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr16:75513367G>C ENST00000332272.4 - 3 539 c.360C>G c.(358-360)ctC>ctG p.L120L CHST6_ENST00000390664.2_Silent_p.L120L|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 120 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CCCACTGGAAGAGGTCGGACA 0.662000 23 31 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152477104 152477104 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:152477104C>T ENST00000367255.5 - 132 24520 c.23919G>A c.(23917-23919)acG>acA p.T7973T SYNE1_ENST00000354674.4_Silent_p.T128T|SYNE1_ENST00000356820.4_Silent_p.T2497T|SYNE1_ENST00000539504.1_Silent_p.T128T|SYNE1_ENST00000265368.4_Silent_p.T7973T|SYNE1_ENST00000423061.1_Silent_p.T7902T|SYNE1_ENST00000448038.1_Silent_p.T7902T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.T7585T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7973 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCAGGTTTCTCGTAGCCTGCT 0.532000 HNSCC(10;0.0054) 14 57 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167798547 167798547 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:167798547C>T ENST00000367848.1 - 26 3929 c.3432G>A c.(3430-3432)atG>atA p.M1144I ADCY10_ENST00000545172.1_Missense_Mutation_p.M1083I|ADCY10_ENST00000367851.4_Missense_Mutation_p.M1236I Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1236 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCATTTGCATCATAACTGCCA 0.413000 26 89 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 50 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55794872 55794872 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:55794872G>C ENST00000379665.2 + 1 659 c.560G>C c.(559-561)tGc>tCc p.C187S NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 CTGATTGCTTGCACAGACACA 0.448000 74 105 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43236942 43236942 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:43236942G>C ENST00000327495.5 - 3 887 c.703C>G c.(703-705)Ctc>Gtc p.L235V PSG3_ENST00000595140.1_Missense_Mutation_p.L235V NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 235 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TCACGGAGGAGATTCAGGGTG 0.537000 98 270 0 0 1 0 0 ANKRD6 22881 broad.mit.edu 37 6 90333717 90333717 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:90333717G>C ENST00000369408.5 + 11 1403 c.1054G>C c.(1054-1056)Gag>Cag p.E352Q ANKRD6_ENST00000447838.2_Missense_Mutation_p.E387Q|ANKRD6_ENST00000339746.4_Missense_Mutation_p.E387Q|ANKRD6_ENST00000520793.1_Missense_Mutation_p.E328Q|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000522441.1_Missense_Mutation_p.E387Q NM_001242813.1 NP_001229742.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 387 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) CCCACCCCATGAGTTCAGGGC 0.537000 6 17 0 0 1 0 0 NF2 4771 broad.mit.edu 37 22 30057257 30057257 + Nonsense_Mutation SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr22:30057257G>T ENST00000338641.4 + 8 1180 c.739G>T c.(739-741)Gag>Tag p.E247* NF2_ENST00000334961.7_Nonsense_Mutation_p.E164*|NF2_ENST00000397789.3_Nonsense_Mutation_p.E247*|NF2_ENST00000403435.1_Nonsense_Mutation_p.E247*|NF2_ENST00000361452.4_Nonsense_Mutation_p.E206*|NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Nonsense_Mutation_p.E247*|NF2_ENST00000353887.4_Nonsense_Mutation_p.E164*|NF2_ENST00000347330.5_Nonsense_Mutation_p.E88*|NF2_ENST00000403999.3_Nonsense_Mutation_p.E247*|NF2_ENST00000361676.4_Nonsense_Mutation_p.E205* NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 247 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.L232_P257del(1)|p.E247fs*4(1)|p.N226_E270del(1)|p.D245fs*31(1)|p.E247K(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 TTATGACCCTGAGAACAGACT 0.502000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 42 45 4.00102e-26 4.23733e-26 1 1 0 RFX6 222546 broad.mit.edu 37 6 117252568 117252568 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:117252568C>G ENST00000332958.2 + 19 2702 c.2686C>G c.(2686-2688)Caa>Gaa p.Q896E NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 896 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GTATCCAGCTCAAGAAACCCT 0.448000 26 66 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44424184 44424184 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:44424184C>T ENST00000372343.3 + 10 2463 c.1801C>T c.(1801-1803)Ctt>Ttt p.L601F NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 601 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GCTGTCAGCTCTTCAAGTGGA 0.552000 9 96 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8633395 8633395 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:8633395C>G ENST00000381196.4 - 11 817 c.274G>C c.(274-276)Gat>Cat p.D92H PTPRD_ENST00000358503.5_Missense_Mutation_p.D92H|PTPRD_ENST00000463477.1_Missense_Mutation_p.D92H|PTPRD_ENST00000540109.1_Missense_Mutation_p.D92H|PTPRD_ENST00000537002.1_Missense_Mutation_p.D92H|PTPRD_ENST00000355233.5_Missense_Mutation_p.D92H|PTPRD_ENST00000397611.3_Missense_Mutation_p.D92H|PTPRD_ENST00000360074.4_Missense_Mutation_p.D92H|PTPRD_ENST00000486161.1_Missense_Mutation_p.D92H|PTPRD_ENST00000397606.3_Missense_Mutation_p.D92H|PTPRD_ENST00000397617.3_Missense_Mutation_p.D92H|PTPRD_ENST00000356435.5_Missense_Mutation_p.D92H NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 92 Ig-like C2-type 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATGGCCTCATCCCTCGGAGTC 0.443000 TSP Lung(15;0.13) 28 72 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43380573 43380573 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:43380573C>T ENST00000039989.4 + 1 83 c.69C>T c.(67-69)ctC>ctT p.L23L TTC17_ENST00000299240.6_Silent_p.L23L|RP11-484D2.2_ENST00000526220.1_RNA NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 23 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GCTGGCTCCTCAGCCTTTCCG 0.711000 4 7 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67052909 67052909 + Silent SNP C C T rs144172325 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:67052909C>T ENST00000308595.5 + 21 2348 c.2058C>T c.(2056-2058)gcC>gcT p.A686A ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 686 activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GCGGCAGTGCCAACGGCCTCT 0.542000 7 16 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382631 41382631 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:41382631G>A ENST00000377801.3 - 2 183 c.109C>T c.(109-111)Cat>Tat p.H37Y PLCXD3_ENST00000328457.3_Missense_Mutation_p.H37Y Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 37 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AAGGAATCATGAGACCCTAGG 0.458000 36 47 0 0 1 0 0 RPS4Y2 140032 broad.mit.edu 37 Y 22918664 22918664 + Splice_Site SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrY:22918664G>A ENST00000288666.5 + 2 4 c.4G>A c.(4-6)Gcc>Acc p.A2T NM_001039567.2 NP_001034656.1 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 2 translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 TCTTTTTCAGGCCCGGGGCCC 0.433000 6 10 0 0 1 0 0 EED 8726 broad.mit.edu 37 11 85977176 85977176 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:85977176C>T ENST00000263360.6 + 8 1464 c.778C>T c.(778-780)Ctt>Ttt p.L260F EED_ENST00000528180.1_Intron|EED_ENST00000327320.4_Missense_Mutation_p.L260F|EED_ENST00000351625.6_Missense_Mutation_p.L260F NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 260 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) GGATCATTCTCTTAAACTTTG 0.289000 53 101 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28104452 28104452 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:28104452C>T ENST00000263181.6 - 9 1503 c.1213G>A c.(1213-1215)Gac>Aac p.D405N NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 405 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TTTGCTTGGTCATTTTCATTA 0.264000 4 34 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22233637 22233637 + Silent SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:22233637C>G ENST00000344041.6 - 10 864 c.552G>C c.(550-552)gtG>gtC p.V184V RAPGEF5_ENST00000405243.1_Silent_p.V337V|RAPGEF5_ENST00000475788.1_5'UTR NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 0 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 GAACAGTCGTCACTTCATCAT 0.493000 45 142 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166901813 166901813 + Missense_Mutation SNP C C G rs138602926 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:166901813C>G ENST00000423058.2 - 10 1419 c.1402G>C c.(1402-1404)Gaa>Caa p.E468Q AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.E468Q|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E468Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.E468Q NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 468 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) CTGGAATGTTCTGAGGCAGTT 0.458000 8 115 0 0 1 0 0 EXTL2 2135 broad.mit.edu 37 1 101343047 101343047 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:101343047C>T ENST00000370114.3 - 3 1854 c.418G>A c.(418-420)Gaa>Aaa p.E140K EXTL2_ENST00000370113.3_Missense_Mutation_p.E140K|EXTL2_ENST00000535414.1_Missense_Mutation_p.E127K NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 140 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) GTTTCCAGTTCAGGAAAGACC 0.488000 13 48 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322918 4322918 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:4322918G>A ENST00000337872.4 + 8 2294 c.2173G>A c.(2173-2175)Gac>Aac p.D725N ZBTB49_ENST00000538529.1_Missense_Mutation_p.D208N|ZBTB49_ENST00000355834.3_Missense_Mutation_p.D603N NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 725 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 CCACGGCGGTGACCCCCTGGG 0.587000 12 15 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1977056 1977056 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:1977056C>T ENST00000382895.3 + 22 3981 c.3550C>T c.(3550-3552)Ctg>Ttg p.L1184L WHSC1_ENST00000508803.1_Silent_p.L1184L|WHSC1_ENST00000382892.2_Silent_p.L1184L|WHSC1_ENST00000382891.5_Silent_p.L1184L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.L532L NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 1184 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CCTCGATTGTCTGGGCAATGA 0.532000 T IGH@ MM 18 24 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134425016 134425016 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:134425016C>G ENST00000370766.3 - 6 3451 c.742G>C c.(742-744)Gag>Cag p.E248Q ZNF75D_ENST00000370764.1_Missense_Mutation_p.E153Q|ZNF75D_ENST00000494295.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 248 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AATTGCCACTCTTCCTCAGAA 0.393000 8 85 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50091139 50091139 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:50091139C>T ENST00000281631.5 + 12 1474 c.1316C>T c.(1315-1317)tCa>tTa p.S439L PARP8_ENST00000514067.2_Missense_Mutation_p.S439L|PARP8_ENST00000503750.2_Missense_Mutation_p.S439L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.S439L|PARP8_ENST00000505554.1_Missense_Mutation_p.S418L|PARP8_ENST00000514342.2_Missense_Mutation_p.S192L NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 439 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) GCCCCCAAGTCATCCAAAACT 0.438000 22 50 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183920242 183920242 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:183920242G>A ENST00000361927.4 - 8 1406 c.1035C>T c.(1033-1035)ttC>ttT p.F345F COLGALT2_ENST00000367520.3_Silent_p.F82F|COLGALT2_ENST00000546159.1_Silent_p.F345F NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 GGTTTATCATGAAAATCTAAT 0.403000 72 109 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43627846 43627846 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr22:43627846C>T ENST00000360835.4 - 8 1006 c.880G>A c.(880-882)Gac>Aac p.D294N NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 EGF-like 7; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CAGAAGTGGTCGCAGCCTCCG 0.647000 OREG0026615 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 16 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42680599 42680599 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:42680599G>C ENST00000232978.8 + 13 3591 c.3403G>C c.(3403-3405)Gat>Cat p.D1135H RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1135 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) CTGCACTCCTGATAGGAGTTC 0.448000 26 55 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114134882 114134882 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:114134882G>C ENST00000259335.4 - 43 4888 c.4889C>G c.(4888-4890)tCt>tGt p.S1630C KIAA0368_ENST00000338205.5_Missense_Mutation_p.S1452C|KIAA0368_ENST00000374378.3_5'UTR 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 CAAAGCACAAGAGGTCTTGTA 0.363000 5 24 0 0 1 0 0 OGFOD3 79701 broad.mit.edu 37 17 80373478 80373478 + Missense_Mutation SNP C C T rs116051835 by1000genomes TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:80373478C>T ENST00000313056.5 - 2 251 c.100G>A c.(100-102)Gag>Aag p.E34K OGFOD3_ENST00000329197.5_Missense_Mutation_p.E34K NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 CTCTGCACCTCCCGCGGGGCT 0.637000 14 23 0 0 1 0 0 ARL6IP6 151188 broad.mit.edu 37 2 153591519 153591519 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:153591519C>G ENST00000326446.5 + 3 1177 c.466C>G c.(466-468)Cta>Gta p.L156V ARL6IP6_ENST00000463690.1_3'UTR NM_152522.5 NP_689735.1 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting protein 6 156 integral to membrane kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 5 ATTCTGGACTCTACTTATAAT 0.363000 25 87 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558545 140558545 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:140558545C>T ENST00000239444.2 + 1 1175 c.930C>T c.(928-930)ttC>ttT p.F310F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 310 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACTTGATTTCGAAAAATTTC 0.383000 32 275 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34064217 34064217 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:34064217G>A ENST00000389232.4 + 63 8983 c.8913G>A c.(8911-8913)ctG>ctA p.L2971L RYR3_ENST00000415757.3_Silent_p.L2971L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2971 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGAAAACCTGAAACTTGGGA 0.473000 5 16 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11890924 11890924 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:11890924G>A ENST00000357901.4 + 4 387 c.285G>A c.(283-285)gaG>gaA p.E95E ZNF441_ENST00000454339.2_Silent_p.E28E NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTGTGAACGAGAAAATACCTG 0.413000 21 53 0 0 1 0 0 ABI2 10152 broad.mit.edu 37 2 204244965 204244965 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:204244965G>A ENST00000295851.5 + 3 616 c.320G>A c.(319-321)aGa>aAa p.R107K ABI2_ENST00000422511.2_Missense_Mutation_p.R107K|ABI2_ENST00000261016.6_Missense_Mutation_p.R62K|ABI2_ENST00000424558.1_Missense_Mutation_p.R107K|ABI2_ENST00000261017.5_Missense_Mutation_p.R107K|ABI2_ENST00000430418.1_Missense_Mutation_p.R107K NM_001282925.1|NM_001282926.1 NP_001269854.1|NP_001269855.1 Q9NYB9 ABI2_HUMAN abl-interactor 2 t-SNARE coiled-coil homology. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15 GTTGCAAGAAGAGAAATTGGT 0.299000 17 48 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 65983618 65983618 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:65983618C>T ENST00000443035.3 - 23 3526 c.3311G>A c.(3310-3312)gGa>gAa p.G1104E DENND4A_ENST00000431932.2_Missense_Mutation_p.G1061E NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1061 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TGCATCAGCTCCCAATTTTTC 0.378000 5 31 0 0 1 0 0 XAF1 54739 broad.mit.edu 37 17 6663026 6663026 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:6663026G>C ENST00000361842.3 + 3 453 c.214G>C c.(214-216)Gag>Cag p.E72Q XAF1_ENST00000441631.1_Intron|XAF1_ENST00000346752.4_Intron|XAF1_ENST00000438512.1_Missense_Mutation_p.E72Q NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 72 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 GTCCTCGCTGGAGTTTCATAA 0.507000 12 48 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8825631 8825631 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr18:8825631G>A ENST00000359865.3 + 15 4265 c.4123G>A c.(4123-4125)Gag>Aag p.E1375K SOGA2_ENST00000306285.7_Missense_Mutation_p.E700K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E700K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1334K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E1334K|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1694K NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1685 CCCTGCCATCGAGAAGGTGCA 0.607000 10 22 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92345940 92345940 + Silent SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:92345940C>G ENST00000377067.3 + 3 1197 c.825C>G c.(823-825)ctC>ctG p.L275L NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 275 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GATACTGCCTCAATGTCATGC 0.547000 5 73 0 0 1 0 0 KRT8 3856 broad.mit.edu 37 12 53292539 53292539 + Nonsense_Mutation SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:53292539C>A ENST00000552551.1 - 7 1558 c.1126G>T c.(1126-1128)Gag>Tag p.E376* KRT8_ENST00000552150.1_Nonsense_Mutation_p.E404*|KRT8_ENST00000546897.1_Nonsense_Mutation_p.E376*|KRT8_ENST00000293308.6_Nonsense_Mutation_p.E376* P05787 K2C8_HUMAN keratin 8 376 Coil 2.|Necessary for interaction with PNN.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCATCAGCTCCTGGTACTCA 0.642000 40 51 7.63091e-17 8.00015e-17 1 1 0 ATF6B 1388 broad.mit.edu 37 6 32085730 32085730 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:32085730C>T ENST00000375201.4 - 12 1366 c.1321G>A c.(1321-1323)Gag>Aag p.E441K ATF6B_ENST00000375203.3_Missense_Mutation_p.E444K Q99941 ATF6B_HUMAN activating transcription factor 6 beta 444 Cleavage; by PS1 (By similarity). response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 GGCTCTTGCTCTGAGAACCCC 0.602000 13 19 0 0 1 0 0 CCDC148 130940 broad.mit.edu 37 2 159195330 159195330 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:159195330C>G ENST00000283233.5 - 7 985 c.672G>C c.(670-672)ttG>ttC p.L224F CCDC148_ENST00000409187.1_Missense_Mutation_p.L233F|CCDC148_ENST00000409889.1_Missense_Mutation_p.L224F|CCDC148_ENST00000536771.1_Missense_Mutation_p.L138F NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 224 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TTGAAGATTTCAAATCAGGGT 0.353000 18 52 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190541406 190541406 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:190541406C>G ENST00000520309.1 + 2 278 c.190C>G c.(190-192)Caa>Gaa p.Q64E ANKAR_ENST00000313581.4_Missense_Mutation_p.Q64E|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Missense_Mutation_p.Q64E|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_5'UTR NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 64 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TGTGCGCTCTCAAGTAGACCT 0.438000 26 87 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200137286 200137286 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:200137286G>A ENST00000443023.1 - 10 3138 c.1673C>T c.(1672-1674)tCt>tTt p.S558F SATB2_ENST00000457245.1_Missense_Mutation_p.S617F|SATB2_ENST00000428695.1_Missense_Mutation_p.S499F|SATB2_ENST00000417098.1_Missense_Mutation_p.S617F|SATB2_ENST00000260926.5_Missense_Mutation_p.S617F Q9UPW6 SATB2_HUMAN SATB homeobox 2 617 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTTTGTGCGAGACCGGGGCTT 0.557000 24 66 0 0 1 0 0 HADHA 3030 broad.mit.edu 37 2 26424095 26424095 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:26424095C>G ENST00000380649.3 - 13 1444 c.1315G>C c.(1315-1317)Gaa>Caa p.E439Q NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 439 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) TCGGCCTTTTCAAAACCTTGG 0.423000 16 39 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7369149 7369149 + Silent SNP C C G rs143028324 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:7369149C>G ENST00000311403.4 - 3 1311 c.972G>C c.(970-972)ctG>ctC p.L324L ZBTB4_ENST00000380599.4_Silent_p.L324L NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) TGTGTCTCTTCAGACTGGACA 0.607000 18 33 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56695312 56695312 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr8:56695312G>A ENST00000260129.5 + 2 584 c.107G>A c.(106-108)cGa>cAa p.R36Q NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 36 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) CGCAGGGATCGAAAATTGTAC 0.313000 21 55 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150059906 150059906 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:150059906C>G ENST00000340413.2 - 5 587 c.511G>C c.(511-513)Gat>Cat p.D171H NUP43_ENST00000367404.4_Intron|NUP43_ENST00000460354.2_Missense_Mutation_p.D171H|NUP43_ENST00000367403.3_Intron NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 171 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) GTACTACTATCTGCATTGTCT 0.333000 25 85 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62865241 62865241 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:62865241G>C ENST00000584306.1 - 8 3480 c.2950C>G c.(2950-2952)Ctc>Gtc p.L984V LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L102V|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L984V|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L22V NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 984 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 AATTTAAAGAGATATGGATCT 0.299000 40 126 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119134253 119134253 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:119134253G>A ENST00000334464.5 - 1 725 c.486C>T c.(484-486)ctC>ctT p.L162L NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 162 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) CTGGCCGCACGAGCCGGATGG 0.731000 4 17 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8485769 8485769 + Silent SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:8485769C>A ENST00000381196.4 - 25 3591 c.3048G>T c.(3046-3048)gtG>gtT p.V1016V PTPRD_ENST00000358503.5_Silent_p.V994V|PTPRD_ENST00000540109.1_Silent_p.V1016V|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Silent_p.V1003V|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Silent_p.V1016V NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1016 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TACCTTGATCCACAGGCAGTG 0.448000 TSP Lung(15;0.13) 4 9 5.9392e-07 6.10353e-07 1 1 0 HADHB 3032 broad.mit.edu 37 2 26486347 26486347 + Splice_Site SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:26486347C>T ENST00000317799.5 + 4 313 c.209C>T c.(208-210)tCa>tTa p.S70L HADHB_ENST00000405867.3_Splice_Site_p.S70L|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Splice_Site_p.S70L|HADHB_ENST00000545822.1_Splice_Site_p.S48L NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 70 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGGCACTTCGTAAGTATGA 0.378000 16 57 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83239311 83239311 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:83239311C>T ENST00000296591.5 - 11 1788 c.1370G>A c.(1369-1371)aGa>aAa p.R457K EDIL3_ENST00000380138.3_Missense_Mutation_p.R447K NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 457 F5/8 type C 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) AGGAAGGATTCTTATGTGTCG 0.468000 11 42 0 0 1 0 0 SPO11 23626 broad.mit.edu 37 20 55909876 55909876 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:55909876G>C ENST00000371263.3 + 6 690 c.581G>C c.(580-582)tGt>tCt p.C194S SPO11_ENST00000345868.4_Missense_Mutation_p.C156S|SPO11_ENST00000371260.4_Missense_Mutation_p.C156S NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 194 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) AAAGTGAATTGTACCTGTGGT 0.343000 Editing and processing nucleases 10 33 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57012191 57012191 + Silent SNP T T C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:57012191T>C ENST00000370706.4 + 10 1552 c.1308T>C c.(1306-1308)tcT>tcC p.S436S RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Silent_p.S436S|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Silent_p.S436S|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTAAAGAATCTAGCTCACTGG 0.353000 18 56 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196397285 196397285 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:196397285C>G ENST00000367433.5 - 10 1035 c.934G>C c.(934-936)Gat>Cat p.D312H KCNT2_ENST00000294725.9_Missense_Mutation_p.D312H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.D312H|KCNT2_ENST00000609185.1_Missense_Mutation_p.D312H NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 312 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ATAAGTAAATCAATCTTCAGT 0.373000 20 72 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25446503 25446503 + RNA SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:25446503G>C ENST00000424208.1 + 0 1988 SNHG14_ENST00000424333.1_RNA|SNORD115-17_ENST00000364612.1_RNA NR_003305.1 TTGTCCTGAAGAGAGGTGATG 0.498000 62 219 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141816461 141816461 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:141816461G>C ENST00000389484.3 - 9 2370 c.1399C>G c.(1399-1401)Caa>Gaa p.Q467E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 467 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTGTTGGTTGAGTTCTTTTT 0.358000 TSP Lung(27;0.18) 10 42 0 0 1 0 0 HLA-E 3133 broad.mit.edu 37 6 30458229 30458229 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:30458229G>A ENST00000376630.4 + 3 612 c.547G>A c.(547-549)Gac>Aac p.D183N NM_005516.5 NP_005507.3 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 183 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1) 18 CTACCTGGAAGACACATGCGT 0.597000 20 42 0 0 1 0 0 MRFAP1L1 114932 broad.mit.edu 37 4 6711276 6711276 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:6711276G>A ENST00000320848.6 - 1 331 c.81C>T c.(79-81)ttC>ttT p.F27F NM_203462.2 NP_982287.1 Q96HT8 MR1L1_HUMAN Morf4 family associated protein 1-like 1 27 CCGGGAGCAGGAACTGCTCGA 0.632000 21 32 0 0 1 0 0 MSTO1 55154 broad.mit.edu 37 1 155582954 155582954 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:155582954G>A ENST00000245564.2 + 11 1237 c.1213G>A c.(1213-1215)Gag>Aag p.E405K MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.E370K|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron NM_001256532.1|NM_001256533.1|NM_018116.3 NP_001243461.1|NP_001243462.1|NP_060586.2 Q9BUK6 MSTO1_HUMAN misato 1, mitochondrial distribution and morphology regulator 405 mitochondrion distribution|protein polymerization mitochondrial outer membrane|protein complex breast(2)|endometrium(1)|lung(3)|skin(1) 7 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) TGCATGTGGGGAGCCTTCTGG 0.567000 19 84 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151860303 151860303 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:151860303G>A ENST00000355193.2 - 43 10577 c.10359C>T c.(10357-10359)ttC>ttT p.F3453F KMT2C_ENST00000262189.6_Silent_p.F3453F lysine (K)-specific methyltransferase 2C CGGAACTGTAGAAGGGAATCT 0.478000 49 149 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64670063 64670063 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:64670063G>C ENST00000421419.2 - 27 3816 c.3702C>G c.(3700-3702)ctC>ctG p.L1234L ATG2A_ENST00000377264.3_Silent_p.L1234L Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1234 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 TTACGTACTGGAGCAGGTTGA 0.652000 4 10 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222347094 222347094 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:222347094G>A ENST00000281821.2 - 5 1337 c.1296C>T c.(1294-1296)gtC>gtT p.V432V EPHA4_ENST00000392071.4_Silent_p.V381V|EPHA4_ENST00000409854.1_Silent_p.V432V|EPHA4_ENST00000409938.1_Silent_p.V432V NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 432 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TGGTCACAGTGACAGAAACTG 0.373000 8 125 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79667810 79667810 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:79667810C>T ENST00000329138.4 + 20 2237 c.2102C>T c.(2101-2103)tCa>tTa p.S701L NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 701 Gln-rich.|Interaction with NF2. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) GGGAGCCAGTCAGTCTCCATG 0.637000 13 35 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9225252 9225252 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:9225252G>C ENST00000318602.7 - 30 4279 c.3972C>G c.(3970-3972)ctC>ctG p.L1324L NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 1324 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GTCTCACCTGGAGGTAGACAC 0.507000 50 47 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73068104 73068104 + RNA SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:73068104G>A ENST00000429829.1 - 0 4484 NR_001564.2 ACTAACAGCAGATAGGGAAAT 0.443000 6 8 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518877 108518877 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:108518877C>T ENST00000375915.2 - 1 206 c.68G>A c.(67-69)cGa>cAa p.R23Q NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 23 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTCGTTCTCTCGGGGTGCTGC 0.532000 55 133 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135428058 135428058 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:135428058G>C ENST00000394143.1 + 6 2484 c.2193G>C c.(2191-2193)ttG>ttC p.L731F GPR112_ENST00000287534.4_Missense_Mutation_p.L668F|GPR112_ENST00000412101.1_Missense_Mutation_p.L526F|GPR112_ENST00000370652.1_Missense_Mutation_p.L731F|GPR112_ENST00000394141.1_Missense_Mutation_p.L526F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 731 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TATCCAAATTGACATCACCAT 0.398000 29 17 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139206926 139206926 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:139206926G>A ENST00000423192.1 + 17 2379 c.2218G>A c.(2218-2220)Gca>Aca p.A740T ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Missense_Mutation_p.A740T Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 740 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 CTTGACCACTGCAATTGACCA 0.418000 """N, Splice, Mis""" ETP ALL 25 53 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537271 5537271 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:5537271C>G ENST00000380184.1 - 1 664 c.401G>C c.(400-402)aGa>aCa p.R134T HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 134 p.R134T(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) TTGGTGCACTCTGCTGCTGTT 0.537000 17 55 0 0 1 0 0 KLF1 10661 broad.mit.edu 37 19 12997900 12997900 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:12997900G>A ENST00000264834.4 - 1 95 c.55C>T c.(55-57)Ccc>Tcc p.P19S NM_006563.3 NP_006554.1 Q13351 KLF1_HUMAN Kruppel-like factor 1 (erythroid) 19 Pro-rich. erythrocyte differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|skin(1) 5 Hepatocellular(1079;0.137) GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18) TCCGGGAAGGGGCCCAGGGCG 0.657000 23 38 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996131 140996131 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:140996131G>C ENST00000285879.4 + 4 3227 c.2941G>C c.(2941-2943)Gac>Cac p.D981H MAGEC1_ENST00000406005.2_Missense_Mutation_p.D48H NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 981 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AAACACATTAGACCTCACCTC 0.468000 HNSCC(15;0.026) 52 44 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120438233 120438233 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:120438233C>T ENST00000369400.1 - 1 885 c.727G>A c.(727-729)Gat>Aat p.D243N NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 243 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) ATACGAACATCTTGAAAGTAG 0.368000 23 70 0 0 1 0 0 SLC46A1 113235 broad.mit.edu 37 17 26731743 26731743 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:26731743G>C ENST00000440501.1 - 2 1067 c.972C>G c.(970-972)ctC>ctG p.L324L SLC46A1_ENST00000321666.5_Silent_p.L324L|SLC46A1_ENST00000584729.1_5'UTR NM_080669.4 NP_542400.2 Q96NT5 PCFT_HUMAN solute carrier family 46 (folate transporter), member 1 324 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) AGTACTGCAGGAGCTTCAGGG 0.577000 13 31 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271978 22271978 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:22271978C>G ENST00000594947.1 + 4 1570 c.1426C>G c.(1426-1428)Caa>Gaa p.Q476E NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) ACACCTTACTCAACATAAAAT 0.383000 16 31 0 0 1 0 0 PSIP1 11168 broad.mit.edu 37 9 15474012 15474012 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:15474012C>T ENST00000380733.4 - 9 1196 c.853G>A c.(853-855)Gaa>Aaa p.E285K PSIP1_ENST00000397519.2_Missense_Mutation_p.E285K|PSIP1_ENST00000380716.4_Missense_Mutation_p.E285K|PSIP1_ENST00000380715.1_Missense_Mutation_p.E285K|PSIP1_ENST00000380738.4_Missense_Mutation_p.E285K O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 285 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) TATACCTTTTCACCTTCTTGA 0.274000 8 46 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7526237 7526237 + Splice_Site SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:7526237C>T ENST00000313599.3 - 14 3467 c.e14-1 CD163L1_ENST00000396630.1_Splice_Site|CD163L1_ENST00000416109.2_Splice_Site Q9NR16 C163B_HUMAN CD163 molecule-like 1 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GCTGTGAATTCTACAGAGAAA 0.438000 7 118 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118647366 118647366 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:118647366G>A ENST00000354673.2 - 5 791 c.411C>T c.(409-411)ctC>ctT p.L137L IGSF11_ENST00000491903.1_Silent_p.L138L|IGSF11_ENST00000489689.1_Silent_p.L138L|IGSF11_ENST00000425327.2_Silent_p.L137L|IGSF11_ENST00000393775.2_Silent_p.L138L|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000441144.2_Silent_p.L137L NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 138 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity p.L137L(1)|p.L138L(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTAACACTGTGAGACCGGTGA 0.493000 12 42 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847570 123847570 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:123847570G>A ENST00000531945.1 - 1 918 c.829C>T c.(829-831)Cgc>Tgc p.R277C NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCACTGGAGCGAGGCTGCAGG 0.592000 30 72 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47951061 47951061 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:47951061G>A ENST00000426837.2 - 10 4988 c.4901C>T c.(4900-4902)tCt>tTt p.S1634F MAP4_ENST00000360240.6_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.S224F P27816 MAP4_HUMAN microtubule-associated protein 4 991 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) AACTGCAACAGACCCTTCTTT 0.438000 47 118 0 0 1 0 0 TSPAN33 340348 broad.mit.edu 37 7 128806685 128806685 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:128806685G>A ENST00000289407.4 + 6 635 c.526G>A c.(526-528)Gac>Aac p.D176N NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 176 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 CTGCTCAGAAGACAACCCCAG 0.522000 39 143 0 0 1 0 0 MLX 6945 broad.mit.edu 37 17 40723603 40723603 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:40723603G>A ENST00000246912.4 + 8 932 c.879G>A c.(877-879)ttG>ttA p.L293L MLX_ENST00000346833.4_Silent_p.L209L|MLX_ENST00000435881.2_Silent_p.L239L NM_170607.2 NP_733752.1 Q9UH92 MLX_HUMAN MLX, MAX dimerization protein 293 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 10 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) TGCACCAATTGAAAAACCAGC 0.537000 52 122 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79229280 79229280 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:79229280G>C ENST00000264895.6 + 15 2035 c.1595G>C c.(1594-1596)aGa>aCa p.R532T FRAS1_ENST00000325942.6_Missense_Mutation_p.R532T|FRAS1_ENST00000264899.6_Missense_Mutation_p.R532T NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 532 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TTGGCCTGCAGAGATCCCCTC 0.577000 5 11 0 0 1 0 0 ZNF548 147694 broad.mit.edu 37 19 57911010 57911010 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:57911010G>A ENST00000366197.5 + 3 1605 c.1355G>A c.(1354-1356)aGa>aAa p.R452K ZNF548_ENST00000336128.7_Missense_Mutation_p.R464K|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 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;0.026) TACGAGTGCAGAGAGTGTGGG 0.468000 18 32 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183714402 183714402 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:183714402G>A ENST00000511685.1 + 26 6700 c.6577G>A c.(6577-6579)Gaa>Aaa p.E2193K TENM3_ENST00000406950.2_Missense_Mutation_p.E2193K teneurin transmembrane protein 3 TCGGTTGGATGAAGATGGTTT 0.483000 20 41 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32097634 32097634 + Missense_Mutation SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:32097634C>A ENST00000375250.5 - 17 2460 c.2219G>T c.(2218-2220)aGa>aTa p.R740I ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R718I|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R770I|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R765I|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R718I NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 770 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) TGGCAACTGTCTGATTAGGTC 0.433000 47 136 2.74695e-27 2.91513e-27 1 1 0 WWTR1 25937 broad.mit.edu 37 3 149260194 149260194 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:149260194C>G ENST00000465804.1 - 5 955 c.699G>C c.(697-699)caG>caC p.Q233H WWTR1_ENST00000360632.3_Missense_Mutation_p.Q233H|WWTR1_ENST00000467467.1_Missense_Mutation_p.Q233H NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCT 0.577000 T CAMTA1 epitheliod hemangioendothelioma 8 40 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78944941 78944941 + Nonsense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:78944941C>T ENST00000453514.1 + 10 1648 c.955C>T c.(955-957)Cag>Tag p.Q319* PAPD4_ENST00000296783.3_Nonsense_Mutation_p.Q319*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.Q315*|PAPD4_ENST00000504233.1_Intron|PAPD4_ENST00000428308.2_Nonsense_Mutation_p.Q319* NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 319 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) AAGTCACCATCAGATAAATGA 0.358000 10 26 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136113174 136113174 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:136113174C>T ENST00000298110.1 - 1 659 c.660G>A c.(658-660)cgG>cgA p.R220R NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 220 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) CATGCTGCCTCCGGGCTGCAC 0.537000 33 22 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76795973 76795973 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:76795973C>T ENST00000278559.3 + 2 230 c.41C>T c.(40-42)tCa>tTa p.S14L CAPN5_ENST00000456580.2_Missense_Mutation_p.S14L|CAPN5_ENST00000531028.1_Missense_Mutation_p.S14L|CAPN5_ENST00000529629.1_Missense_Mutation_p.S14L NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 14 proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 CAGAACTACTCAGCCCTGAGG 0.637000 11 31 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160097482 160097482 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:160097482G>A ENST00000361216.3 + 8 978 c.889G>A c.(889-891)Gct>Act p.A297T ATP1A2_ENST00000392233.3_Missense_Mutation_p.A297T NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 297 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CACAGGGGTCGCTGTATTCCT 0.577000 36 141 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48936983 48936983 + Nonsense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:48936983C>T ENST00000267163.4 + 8 889 c.751C>T c.(751-753)Cga>Tga p.R251* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 251 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6)|p.R251*(5) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGTTCACCTCGAACACCCAG 0.343000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 17 46 0 0 1 0 0 YAP1 10413 broad.mit.edu 37 11 102098267 102098267 + Nonsense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:102098267C>T ENST00000282441.5 + 8 1619 c.1231C>T c.(1231-1233)Cga>Tga p.R411* YAP1_ENST00000345877.2_Nonsense_Mutation_p.R361*|YAP1_ENST00000526343.1_Nonsense_Mutation_p.R357*|YAP1_ENST00000524575.1_Nonsense_Mutation_p.R233*|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000531439.1_Nonsense_Mutation_p.R395*|YAP1_ENST00000537274.1_Nonsense_Mutation_p.R399* NM_001130145.2|NM_001282101.1 NP_001123617.1|NP_001269030.1 P46937 YAP1_HUMAN Yes-associated protein 1 411 Transactivation domain. cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) CAGTGTCCCTCGAACCCCAGA 0.433000 8 17 0 0 1 0 0 CLUL1 27098 broad.mit.edu 37 18 627295 627295 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr18:627295G>C ENST00000581619.1 + 5 1544 c.697G>C c.(697-699)Gag>Cag p.E233Q CLUL1_ENST00000540035.1_Missense_Mutation_p.E260Q|CLUL1_ENST00000579494.1_Missense_Mutation_p.E208Q|CLUL1_ENST00000400606.2_Missense_Mutation_p.E208Q|CLUL1_ENST00000338387.7_Missense_Mutation_p.E208Q Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 208 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 GATGCAGCAAGAGTTTGACCA 0.408000 52 147 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39824885 39824885 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:39824885G>A ENST00000564288.1 + 47 12970 c.12193G>A c.(12193-12195)Gaa>Aaa p.E4065K MACF1_ENST00000372915.3_Missense_Mutation_p.E4070K|MACF1_ENST00000289893.4_Missense_Mutation_p.E2505K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.E4102K|MACF1_ENST00000317713.7_Missense_Mutation_p.E2003K|MACF1_ENST00000545844.1_Missense_Mutation_p.E2003K|MACF1_ENST00000361689.2_Missense_Mutation_p.E2003K|MACF1_ENST00000539005.1_Missense_Mutation_p.E2003K Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4070 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGACATAATGGAAATTGAAGG 0.423000 16 62 0 0 1 0 0 KIAA1456 57604 broad.mit.edu 37 8 12879157 12879157 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr8:12879157G>C ENST00000524591.2 + 5 1458 c.969G>C c.(967-969)tgG>tgC p.W323C KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 323 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 ACTTGGAGTGGCTGAGAGCAC 0.423000 4 41 0 0 1 0 0 IGHV3-33 28434 broad.mit.edu 37 14 106815856 106815856 + RNA SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr14:106815856C>T ENST00000390615.2 - 0 296 TTACTTCCATCATACCATATA 0.517000 45 214 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126318913 126318913 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:126318913C>G ENST00000525144.2 - 8 1237 c.988G>C c.(988-990)Gac>Cac p.D330H KIRREL3_ENST00000525704.2_Missense_Mutation_p.D330H|KIRREL3_ENST00000529097.2_Missense_Mutation_p.D330H NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 330 Ig-like C2-type 3. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) CAGTAGACGTCAACCGTGCGG 0.577000 12 30 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165956858 165956858 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:165956858C>G ENST00000360093.3 - 22 4411 c.3920G>C c.(3919-3921)aGa>aCa p.R1307T SCN3A_ENST00000409101.3_Missense_Mutation_p.R1258T|SCN3A_ENST00000283254.7_Missense_Mutation_p.R1307T NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1307 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TCTTAAAGCTCTTAATGTCCG 0.378000 7 66 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53215603 53215603 + Missense_Mutation SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:53215603G>T ENST00000394729.2 + 5 848 c.520G>T c.(520-522)Gtg>Ttg p.V174L PRKCD_ENST00000330452.3_Missense_Mutation_p.V174L NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 174 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) CTTCTGTTCTGTGTGCAAAGA 0.567000 19 59 5.3912e-06 5.48616e-06 1 1 0 NLE1 54475 broad.mit.edu 37 17 33463472 33463472 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:33463472G>A ENST00000442241.4 - 8 912 c.873C>T c.(871-873)aaC>aaT p.N291N NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.N249N NM_001014445.1|NM_018096.3 NP_001014445.1|NP_060566.2 Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 291 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) GGGCCATGGTGTTCACCCAGT 0.607000 30 119 0 0 1 0 0 MAPK8 5599 broad.mit.edu 37 10 49633961 49633961 + Missense_Mutation SNP A A G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:49633961A>G ENST00000374189.1 + 8 900 c.719A>G c.(718-720)cAg>cGg p.Q240R MAPK8_ENST00000374182.3_Missense_Mutation_p.Q240R|MAPK8_ENST00000360332.3_Missense_Mutation_p.Q240R|MAPK8_ENST00000395611.3_Intron P45983 MK08_HUMAN mitogen-activated protein kinase 8 240 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) GTTATTGAACAGCTTGGAACA 0.318000 9 44 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44170868 44170868 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:44170868G>A ENST00000260665.7 - 23 2519 c.2462C>T c.(2461-2463)tCc>tTc p.S821F NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 821 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TATGTTGGTGGATGGTTCTGC 0.358000 32 108 0 0 1 0 0 UBE3A 7337 broad.mit.edu 37 15 25616710 25616710 + Nonsense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:25616710G>C ENST00000232165.3 - 6 1267 c.611C>G c.(610-612)tCa>tGa p.S204* UBE3A_ENST00000397954.2_Nonsense_Mutation_p.S207*|UBE3A_ENST00000566215.1_Nonsense_Mutation_p.S184*|UBE3A_ENST00000428984.2_Nonsense_Mutation_p.S184*|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Nonsense_Mutation_p.S184* NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 207 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) AGATGCTTCTGAGTCTTCTTC 0.408000 45 141 0 0 1 0 0 MRGPRF 116535 broad.mit.edu 37 11 68773667 68773667 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:68773667C>T ENST00000309099.6 - 3 493 c.111G>A c.(109-111)caG>caA p.Q37Q MRGPRF_ENST00000441623.1_Silent_p.Q37Q NM_145015.4 NP_659452.3 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 37 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|lung(4) 7 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCATCGCGATCTGCTCGATGG 0.642000 11 31 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163076436 163076436 + Splice_Site SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:163076436C>G ENST00000188790.4 - 7 621 c.e7-1 FAP_ENST00000443424.1_Splice_Site NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TACAAATTCTCTAGAAGGAAA 0.294000 16 28 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144857639 144857639 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:144857639C>G ENST00000369359.4 - 42 6861 c.6823G>C c.(6823-6825)Gaa>Caa p.E2275Q PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E2139Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2139Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2224Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E2033Q|PDE4DIP_ENST00000524974.1_5'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2139 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGGGCGTTTCTGAGCCAGGA 0.488000 T PDGFRB MPD 12 254 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14563188 14563188 + RNA SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:14563188C>T ENST00000273083.3 - 0 738 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 AAGAGTGCCTCGTGGCTGCAC 0.672000 8 11 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40933043 40933043 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:40933043G>A ENST00000246914.5 + 1 348 c.327G>A c.(325-327)acG>acA p.T109T NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 109 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCGAGGGCACGTGGACCGAGG 0.731000 5 17 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129373852 129373852 + Nonsense_Mutation SNP T T A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:129373852T>A ENST00000393238.3 - 5 1946 c.1606A>T c.(1606-1608)Aaa>Taa p.K536* TMCC1_ENST00000426664.2_Nonsense_Mutation_p.K422*|TMCC1_ENST00000432054.2_Nonsense_Mutation_p.K212*|TMCC1_ENST00000329333.5_Nonsense_Mutation_p.K357* NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 536 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TACGCGATTTTTTCTTCCATG 0.423000 23 70 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414111 121414111 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:121414111C>T ENST00000393667.3 - 13 5369 c.5259G>A c.(5257-5259)gaG>gaA p.E1753E GOLGB1_ENST00000340645.5_Silent_p.E1748E NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1748 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GAGAGTCTTTCTCAGACATTA 0.378000 42 99 0 0 1 0 0 FAM71F1 84691 broad.mit.edu 37 7 128356937 128356937 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:128356937C>G ENST00000315184.5 + 2 373 c.320C>G c.(319-321)tCg>tGg p.S107W FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Silent_p.L28L NM_001282788.1|NM_032599.2 NP_001269717.1|NP_115988.1 Q96KD3 F71F1_HUMAN family with sequence similarity 71, member F1 107 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 GTGACCTCCTCGGTACCCTGC 0.587000 7 23 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139358973 139358973 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:139358973G>A ENST00000313050.7 - 7 4418 c.4345C>T c.(4345-4347)Cat>Tat p.H1449Y SEC16A_ENST00000290037.6_Missense_Mutation_p.H1271Y|SEC16A_ENST00000371706.3_Missense_Mutation_p.H1271Y|SEC16A_ENST00000431893.2_Missense_Mutation_p.H1271Y NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1271 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GCACAGACATGAGGCACTGAA 0.458000 20 66 0 0 1 0 0 IFT88 8100 broad.mit.edu 37 13 21217598 21217598 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:21217598G>A ENST00000382778.4 + 20 2832 c.1714G>A c.(1714-1716)Gaa>Aaa p.E572K IFT88_ENST00000351808.5_Missense_Mutation_p.E563K|IFT88_ENST00000319980.6_Missense_Mutation_p.E572K|IFT88_ENST00000537103.1_Missense_Mutation_p.E544K Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 572 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) CATAAGATATGAATTAATGGA 0.318000 11 42 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113763586 113763586 + Missense_Mutation SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:113763586C>A ENST00000259211.6 + 2 457 c.46C>A c.(46-48)Cag>Aag p.Q16K NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 16 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 GGGGAGCATTCAGGATATCAA 0.468000 29 45 3.69857e-22 3.90905e-22 1 1 0 AGL 178 broad.mit.edu 37 1 100358047 100358047 + Missense_Mutation SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:100358047G>T ENST00000294724.4 + 24 3621 c.3143G>T c.(3142-3144)tGt>tTt p.C1048F AGL_ENST00000370163.3_Missense_Mutation_p.C1048F|AGL_ENST00000370161.2_Missense_Mutation_p.C1032F|AGL_ENST00000361915.3_Missense_Mutation_p.C1048F|AGL_ENST00000361522.4_Missense_Mutation_p.C1031F|AGL_ENST00000370165.3_Missense_Mutation_p.C1048F|AGL_ENST00000361302.3_Missense_Mutation_p.C1032F NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1048 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GTTCAACTGTGTGGAGTAGGA 0.368000 15 40 2.32078e-09 2.41362e-09 1 1 0 FAM110B 90362 broad.mit.edu 37 8 59059267 59059267 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr8:59059267G>A ENST00000361488.3 + 5 1358 c.478G>A c.(478-480)Gcg>Acg p.A160T FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 160 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) TCACTCCTTCGCGGAGTCCCT 0.692000 5 10 0 0 1 0 0 RNF180 285671 broad.mit.edu 37 5 63510308 63510308 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:63510308G>A ENST00000389100.4 + 4 1227 c.1155G>A c.(1153-1155)agG>agA p.R385R RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Silent_p.R385R NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 385 Interaction with ZIC2 (By similarity). integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) ATCTAAGAAGGAAACAACGAA 0.393000 16 55 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97365429 97365429 + RNA SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:97365429C>T ENST00000457909.1 + 0 4256 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CTTTGGAGCTCATTGTGGGCT 0.527000 38 80 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7892992 7892992 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:7892992C>T ENST00000264668.2 + 11 1634 c.1604C>T c.(1603-1605)tCc>tTc p.S535F MTRR_ENST00000440940.2_Missense_Mutation_p.S508F NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 535 FAD-binding FR-type. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) ATACATGCATCCCATGAAGAC 0.448000 21 71 0 0 1 0 0 TRMT13 54482 broad.mit.edu 37 1 100614274 100614274 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:100614274C>T ENST00000370141.2 + 11 1350 c.1344C>T c.(1342-1344)ttC>ttT p.F448F NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) AGAAGGGATTCAGTCCTGCTT 0.383000 16 63 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167689355 167689355 + Missense_Mutation SNP T T C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:167689355T>C ENST00000519204.1 + 28 7620 c.7502T>C c.(7501-7503)gTg>gCg p.V2501A TENM2_ENST00000518659.1_Missense_Mutation_p.V2622A|TENM2_ENST00000545108.1_Missense_Mutation_p.V2621A|TENM2_ENST00000403607.2_Missense_Mutation_p.V2446A|TENM2_ENST00000520394.1_Missense_Mutation_p.V2383A teneurin transmembrane protein 2 CACTACTTTGTGAAGATTGGC 0.592000 5 10 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30506048 30506048 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr16:30506048C>T ENST00000356798.6 + 13 1560 c.1380C>T c.(1378-1380)ttC>ttT p.F460F ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Silent_p.F377F|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 460 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCTCTTATTTCGGTGGGGAGC 0.597000 12 27 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49065842 49065842 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:49065842C>T ENST00000376265.2 - 42 4927 c.4866G>A c.(4864-4866)cgG>cgA p.R1622R CACNA1F_ENST00000376251.1_Silent_p.R1557R|CACNA1F_ENST00000323022.5_Silent_p.R1611R NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1622 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CCTGCAGGCTCCGCAGACCAG 0.607000 6 10 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39824525 39824525 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:39824525G>C ENST00000564288.1 + 46 12877 c.12100G>C c.(12100-12102)Gag>Cag p.E4034Q MACF1_ENST00000372915.3_Missense_Mutation_p.E4039Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E2474Q|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.E4071Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E1972Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E1972Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E1972Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E1972Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4039 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGTTCTCCAGGAGCAGCTTGC 0.512000 15 42 0 0 1 0 0 RRAGB 10325 broad.mit.edu 37 X 55784744 55784744 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:55784744G>A ENST00000374941.4 + 10 1598 c.1009G>A c.(1009-1011)Gat>Aat p.D337N RRAGB_ENST00000262850.7_Missense_Mutation_p.D365N NM_006064.4 NP_006055.3 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B 365 M -> V (in Ref. 1; CAA62132). cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding p.D365H(1) breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1) 14 GGAAAGAGTGGATGGACCAAA 0.403000 9 5 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32035515 32035515 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:32035515C>G ENST00000375244.3 - 18 6668 c.6467G>C c.(6466-6468)gGg>gCg p.G2156A TNXB_ENST00000375247.2_Missense_Mutation_p.G2156A P22105 TENX_HUMAN tenascin XB 2228 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GTACTTGCGCCCAGGCTCCAG 0.677000 15 49 0 0 1 0 0 SLK 9748 broad.mit.edu 37 10 105780327 105780327 + Missense_Mutation SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:105780327C>A ENST00000369755.3 + 17 3948 c.3403C>A c.(3403-3405)Cag>Aag p.Q1135K SLK_ENST00000335753.4_Missense_Mutation_p.Q1104K NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 1135 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GCGAGATCTTCAGTTGCAGTG 0.453000 15 56 3.41278e-10 3.55641e-10 1 1 0 LRRC37A3 374819 broad.mit.edu 37 17 62864606 62864606 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:62864606G>A ENST00000584306.1 - 9 3557 c.3027C>T c.(3025-3027)ctC>ctT p.L1009L LRRC37A3_ENST00000339474.5_Silent_p.L127L|LRRC37A3_ENST00000319651.5_Silent_p.L1009L|LRRC37A3_ENST00000400877.3_Silent_p.L47L NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1009 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CAGTCATCATGAGAATGTTCT 0.328000 40 105 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28302318 28302318 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr21:28302318C>T ENST00000284987.5 - 7 2233 c.2112G>A c.(2110-2112)gtG>gtA p.V704V AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 704 Cys-rich. 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 AGCCAGTTCTCACACACTTCC 0.493000 48 75 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52485839 52485839 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr14:52485839C>T ENST00000216286.5 - 14 2967 c.2968G>A c.(2968-2970)Gaa>Aaa p.E990K NID2_ENST00000541773.1_Missense_Mutation_p.E889K NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 990 Thyroglobulin type-1 1. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CCAGGAACTTCATGACCATCA 0.602000 8 22 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41739721 41739721 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:41739721C>T ENST00000242208.4 - 2 498 c.252G>A c.(250-252)ctG>ctA p.L84L INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Silent_p.L84L|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 84 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGATCGCGTTCAGAAGCGCCG 0.517000 TSP Lung(11;0.080) 135 329 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7262479 7262479 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:7262479G>A ENST00000361972.4 - 11 1314 c.1224C>T c.(1222-1224)ttC>ttT p.F408F SFMBT2_ENST00000397167.1_Silent_p.F408F NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 408 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TGTTCTTTGTGAAACCTCGAC 0.502000 18 70 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32959762 32959762 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:32959762G>C ENST00000321639.5 + 7 1580 c.1252G>C c.(1252-1254)Gag>Cag p.E418Q NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 418 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GAGTGGAAAAGAGTCTCGAGG 0.567000 18 53 0 0 1 0 0 LNX2 222484 broad.mit.edu 37 13 28127506 28127506 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:28127506C>T ENST00000316334.3 - 8 1746 c.1617G>A c.(1615-1617)ctG>ctA p.L539L NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 539 PDZ 3. zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) CACTGGCTTTCAGCATTGCAA 0.478000 15 52 0 0 1 0 0 LAYN 143903 broad.mit.edu 37 11 111430885 111430885 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:111430885G>A ENST00000436913.2 + 6 793 c.392G>A c.(391-393)gGa>gAa p.G131E LAYN_ENST00000375614.2_Missense_Mutation_p.G276E|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000375615.3_Missense_Mutation_p.G284E|LAYN_ENST00000525126.1_3'UTR NM_001258391.1 NP_001245320.1 Q6UX15 LAYN_HUMAN layilin 284 C-type lectin. cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) CCTCACCAGGGAAACAGCCCG 0.498000 13 48 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197870475 197870475 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:197870475C>T ENST00000328737.2 - 21 2291 c.2215G>A c.(2215-2217)Gac>Aac p.D739N ANKRD44_ENST00000450567.1_Missense_Mutation_p.D739N|ANKRD44_ENST00000282272.8_Missense_Mutation_p.D756N|ANKRD44_ENST00000337207.5_Missense_Mutation_p.D739N Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 764 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) AAACAACAGTCCTCCTCAGAA 0.522000 10 126 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957426 35957426 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:35957426G>C ENST00000274278.3 - 5 1296 c.939C>G c.(937-939)ctC>ctG p.L313L UGT3A1_ENST00000507113.1_Silent_p.L279L|UGT3A1_ENST00000503189.1_Silent_p.L313L|UGT3A1_ENST00000513233.1_5'UTR NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 313 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCATCTTCTTGAGGACTTCCT 0.493000 6 85 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196928035 196928035 + Missense_Mutation SNP T T C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:196928035T>C ENST00000367415.5 + 5 738 c.638T>C c.(637-639)aTt>aCt p.I213T CFHR2_ENST00000476712.2_Missense_Mutation_p.I197T|CFHR2_ENST00000367421.3_Missense_Mutation_p.I213T|CFHR2_ENST00000496448.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 TCACAAGAAATTATGGAAAAA 0.274000 8 31 0 0 1 0 0 KCNIP2 30819 broad.mit.edu 37 10 103588900 103588900 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:103588900C>G ENST00000358038.3 - 3 577 c.226G>C c.(226-228)Gag>Cag p.E76Q KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000370046.1_Missense_Mutation_p.E44Q|KCNIP2_ENST00000343195.4_Missense_Mutation_p.E44Q|KCNIP2_ENST00000356640.2_Missense_Mutation_p.E94Q|KCNIP2_ENST00000461105.1_Missense_Mutation_p.E109Q|KCNIP2_ENST00000353068.3_Missense_Mutation_p.E44Q|KCNIP2_ENST00000348850.5_Missense_Mutation_p.E49Q NM_173192.2|NM_173193.2|NM_173195.2 NP_775284.1|NP_775285.1|NP_775287.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 94 S -> R (in Ref. 10; BAB55052). clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) TGCAGCTGCTCCAGACCCTCA 0.617000 10 28 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109690005 109690005 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:109690005C>T ENST00000277225.5 + 3 4101 c.3812C>T c.(3811-3813)tCa>tTa p.S1271L ZNF462_ENST00000457913.1_Missense_Mutation_p.S1271L|ZNF462_ENST00000441147.2_Missense_Mutation_p.S116L Q96JM2 ZN462_HUMAN zinc finger protein 462 1271 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AGGCAGTGCTCATATACCTCC 0.522000 70 158 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176833621 176833621 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:176833621G>C ENST00000367654.3 - 23 3919 c.3708C>G c.(3706-3708)ctC>ctG p.L1236L ASTN1_ENST00000361833.2_Silent_p.L1228L|ASTN1_ENST00000367657.3_Intron 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 ACCAACTGCTGAGGTCCCCAA 0.522000 15 52 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54649696 54649696 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:54649696G>A ENST00000406403.1 + 8 2357 c.754G>A c.(754-756)Gag>Aag p.E252K CNOT3_ENST00000358389.3_Missense_Mutation_p.E71K|CNOT3_ENST00000221232.5_Missense_Mutation_p.E252K O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 252 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CATGGAGGATGAGATCTTCAA 0.642000 15 25 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143853407 143853407 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:143853407C>G ENST00000507359.3 + 3 2108 c.1017C>G c.(1015-1017)atC>atG p.I339M KCTD16_ENST00000512467.1_Missense_Mutation_p.I339M NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) AGACCAACATCCAGACTCTGG 0.582000 19 63 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846882 55846882 + Silent SNP G G A rs142733366 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:55846882G>A ENST00000322678.1 + 1 885 c.885G>A c.(883-885)gtG>gtA p.V295V RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V295V(1) kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 ACAAGCAAGTGAAACAAGCTT 0.398000 20 32 0 0 1 0 0 PRDX6 9588 broad.mit.edu 37 1 173455466 173455466 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:173455466G>A ENST00000340385.5 + 4 604 c.472G>A c.(472-474)Gat>Aat p.D158N PRDX6_ENST00000470017.1_3'UTR NM_004905.2 NP_004896.1 P30041 PRDX6_HUMAN peroxiredoxin 6 158 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 CAGGAACTTTGATGAGATTCT 0.443000 55 181 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127512277 127512277 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:127512277G>A ENST00000299130.3 + 1 163 c.151G>A c.(151-153)Gag>Aag p.E51K BCCIP_ENST00000368759.5_Missense_Mutation_p.E51K|BCCIP_ENST00000429863.2_Missense_Mutation_p.E51K|BCCIP_ENST00000278100.6_Missense_Mutation_p.E51K NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 51 cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) tgaagaggacgaggTCATTGA 0.488000 9 52 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131521644 131521644 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:131521644C>G ENST00000423981.1 + 2 2109 c.1999C>G c.(1999-2001)Ctg>Gtg p.L667V AMER3_ENST00000321420.4_Missense_Mutation_p.L667V 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 AGGTGACACTCTGGATGCAGA 0.652000 8 17 0 0 1 0 0 EPOR 2057 broad.mit.edu 37 19 11489167 11489167 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:11489167C>T ENST00000222139.6 - 8 1124 c.1020G>A c.(1018-1020)ggG>ggA p.G340G EPOR_ENST00000592375.2_3'UTR NM_000121.3 NP_000112.1 P19235 EPOR_HUMAN erythropoietin receptor 340 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CCTGCATCGTCCCCCAGCAGC 0.632000 17 21 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127512271 127512271 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:127512271G>A ENST00000299130.3 + 1 157 c.145G>A c.(145-147)Gag>Aag p.E49K BCCIP_ENST00000368759.5_Missense_Mutation_p.E49K|BCCIP_ENST00000429863.2_Missense_Mutation_p.E49K|BCCIP_ENST00000278100.6_Missense_Mutation_p.E49K NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 49 cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) aaaggatgaagaggacgaggT 0.493000 10 53 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169648730 169648730 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:169648730C>T ENST00000366787.3 - 4 640 c.391G>A c.(391-393)Gac>Aac p.D131N NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 131 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CGGGTGCCGTCAATCCAGTAG 0.652000 27 60 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30350474 30350474 + Missense_Mutation SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr18:30350474C>A ENST00000359358.4 - 2 519 c.81G>T c.(79-81)tgG>tgT p.W27C KLHL14_ENST00000358095.4_Missense_Mutation_p.W27C|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 27 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 GCTGCTTCCTCCACAGCAGGT 0.642000 21 22 2.70639e-06 2.76488e-06 1 1 0 GPR133 283383 broad.mit.edu 37 12 131471828 131471828 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:131471828G>A ENST00000261654.5 + 6 1238 c.679G>A c.(679-681)Gag>Aag p.E227K GPR133_ENST00000535015.1_Missense_Mutation_p.E259K NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 227 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGCTTTCGATGAGTTCATCAT 0.542000 14 44 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39671846 39671846 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:39671846C>T ENST00000254043.3 - 6 4710 c.1125G>A c.(1123-1125)ctG>ctA p.L375L KRT15_ENST00000393974.3_Silent_p.L210L|KRT15_ENST00000393981.3_Silent_p.L210L|KRT15_ENST00000393976.2_Silent_p.L375L NM_002275.3 NP_002266 P19012 K1C15_HUMAN keratin 15 375 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) GGAGCTCACTCAGCTGGGCCT 0.592000 29 56 0 0 1 0 0 RGMB 285704 broad.mit.edu 37 5 98129101 98129101 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:98129101G>A ENST00000308234.7 + 5 1483 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K RGMB_ENST00000513185.1_Missense_Mutation_p.E320K NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 320 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) CCCCCTGAGTGAACGCATCGA 0.637000 4 20 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 117884737 117884737 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:117884737G>C ENST00000439649.3 - 5 1117 c.750C>G c.(748-750)atC>atG p.I250M GFRA1_ENST00000369236.1_Missense_Mutation_p.I250M|GFRA1_ENST00000355422.6_Missense_Mutation_p.I255M|GFRA1_ENST00000544592.1_Missense_Mutation_p.I134M NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 255 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) CTTACCTGCAGATGTAATTCG 0.537000 16 26 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2419057 2419057 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:2419057G>A ENST00000449969.1 + 8 1215 c.1054G>A c.(1054-1056)Gac>Aac p.D352N PLCH2_ENST00000378488.3_Missense_Mutation_p.D379N|PLCH2_ENST00000419816.2_Missense_Mutation_p.D379N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D379N|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 379 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGATGGGCCCGACGGGGAGCC 0.567000 4 25 0 0 1 0 0 LEMD3 23592 broad.mit.edu 37 12 65563434 65563434 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:65563434C>G ENST00000308330.2 + 1 84 c.58C>G c.(58-60)Cag>Gag p.Q20E LEMD3_ENST00000541171.1_3'UTR NM_001167614.1|NM_014319.4 NP_001161086.1|NP_055134.2 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 20 LEM. negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GCTTTTCTCTCAGCTCCGCCG 0.602000 2 4 0 0 1 0 0 MRPL38 64978 broad.mit.edu 37 17 73895341 73895341 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:73895341C>G ENST00000309352.3 - 8 1441 c.904G>C c.(904-906)Gat>Cat p.D302H RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Missense_Mutation_p.D118H NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 302 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) TTGTAGAAATCAAAAGTGCGG 0.557000 5 14 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10960123 10960123 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:10960123G>A ENST00000254488.2 + 8 1171 c.1105G>A c.(1105-1107)Gag>Aag p.E369K NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 369 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) ACCCATTGCTGAGGTGGCAGA 0.567000 9 29 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 11 12 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130506924 130506924 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:130506924G>A ENST00000314830.8 - 7 1832 c.1719C>T c.(1717-1719)ggC>ggT p.G573G SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Silent_p.G219G|SH2D3C_ENST00000420366.1_Silent_p.G415G|SH2D3C_ENST00000373276.3_Silent_p.G505G|SH2D3C_ENST00000373277.4_Silent_p.G416G|SH2D3C_ENST00000373274.3_Silent_p.G413G NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 573 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGCGCAGAAGGCCCACCTCCA 0.612000 31 93 0 0 1 0 0 PHYKPL 85007 broad.mit.edu 37 5 177658513 177658513 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:177658513C>G ENST00000308158.5 - 2 305 c.71G>C c.(70-72)aGa>aCa p.R24T PHYKPL_ENST00000476170.2_Missense_Mutation_p.R24T NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase AAAAAAGAGTCTGCAGGAAGA 0.547000 32 94 0 0 1 0 0 RABL6 55684 broad.mit.edu 37 9 139726762 139726762 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:139726762G>A ENST00000371675.3 + 7 1185 c.300G>A c.(298-300)aaG>aaA p.K100K RABL6_ENST00000371663.4_Silent_p.K216K|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Silent_p.K215K|RABL6_ENST00000357466.2_Silent_p.K215K|RABL6_ENST00000432842.2_Silent_p.K177K|RABL6_ENST00000311502.7_Silent_p.K215K RAB, member RAS oncogene family-like 6 CTTCCATGAAGAACAGCTTCG 0.493000 25 58 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10789708 10789708 + Splice_Site SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:10789708G>A ENST00000361367.2 + 15 2386 c.1960G>A c.(1960-1962)Gga>Aga p.G654R NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 654 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CAATGGCATAGGTGATTATAA 0.343000 17 60 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7414870 7414870 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:7414870C>T ENST00000338316.4 + 2 484 c.395C>T c.(394-396)tCt>tTt p.S132F NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 132 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GGCACCGTCTCTCCCTGGGAC 0.423000 10 78 0 0 1 0 0 DCBLD2 131566 broad.mit.edu 37 3 98538214 98538214 + Nonsense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:98538214G>A ENST00000326840.6 - 8 1281 c.919C>T c.(919-921)Caa>Taa p.Q307* DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Q307* NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 307 F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 GCTGTTATTTGAGGATCCGCG 0.448000 14 21 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353621 133353621 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:133353621C>T ENST00000204726.3 - 20 4336 c.3778G>A c.(3778-3780)Gag>Aag p.E1260K GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1260K|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E1260K NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1260 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCCCGGGCCTCGGCCAGCTCT 0.587000 9 15 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 7016174 7016174 + Splice_Site SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:7016174G>A ENST00000409757.4 + 12 1771 c.e12-1 TBC1D14_ENST00000446947.2_Splice_Site|TBC1D14_ENST00000448507.1_Splice_Site|TBC1D14_ENST00000451522.2_Splice_Site|TBC1D14_ENST00000410031.1_Splice_Site NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 TATCTCCCTAGATGTTGACTT 0.299000 4 7 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454070 84454070 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:84454070C>G ENST00000377084.2 - 1 2458 c.1573G>C c.(1573-1575)Gac>Cac p.D525H NM_001281503.1|NM_052910.1 NP_001268432.1|NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 525 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CCGTGGAGGTCTATCTGGATG 0.557000 16 46 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596906 179596906 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:179596906G>C ENST00000589042.1 - 57 17014 c.16790C>G c.(16789-16791)tCt>tGt p.S5597C TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4353C|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S5280C|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5280 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) AACTGCAGTAGACTCCACAAA 0.433000 59 151 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83823834 83823834 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:83823834C>T ENST00000265362.4 - 1 383 c.69G>A c.(67-69)caG>caA p.Q23Q SEMA3A_ENST00000436949.1_Silent_p.Q23Q NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TCTTCCCATTCTGATAGTTTG 0.418000 37 104 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76066699 76066699 + Splice_Site SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:76066699C>G ENST00000260045.3 - 4 424 c.e4-1 PRKRIR_ENST00000531878.1_Splice_Site NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 CATCTTCACTCTAAATGTCAA 0.323000 3 8 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056980 120056980 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:120056980C>T ENST00000235547.6 + 4 979 c.840C>T c.(838-840)ctC>ctT p.L280L HSD3B1_ENST00000369413.3_Silent_p.L278L|HSD3B1_ENST00000528909.1_Silent_p.L278L NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 278 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) AGTTCGGCCTCCGCCTTGATT 0.473000 8 152 0 0 1 0 0 CD2AP 23607 broad.mit.edu 37 6 47544302 47544302 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:47544302G>C ENST00000359314.5 + 7 1228 c.772G>C c.(772-774)Gag>Cag p.E258Q NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 258 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) TCAGAGTGTGGAGATAACAAA 0.303000 21 76 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285449 223285449 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:223285449C>T ENST00000540964.1 - 4 1386 c.925G>A c.(925-927)Gag>Aag p.E309K TLR5_ENST00000342210.6_Missense_Mutation_p.E309K O60602 TLR5_HUMAN toll-like receptor 5 309 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TTGAGTGTCTCAAAGACTCGT 0.443000 51 62 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23810669 23810669 + Nonsense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:23810669C>T ENST00000354639.3 + 14 2154 c.1690C>T c.(1690-1692)Caa>Taa p.Q564* STK31_ENST00000355870.3_Nonsense_Mutation_p.Q587*|STK31_ENST00000433467.2_Nonsense_Mutation_p.Q587*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Nonsense_Mutation_p.Q564* NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 587 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TACATATAGTCAAGTACTGCA 0.348000 30 96 0 0 1 0 0 RANBP3L 202151 broad.mit.edu 37 5 36265595 36265595 + Nonsense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:36265595G>C ENST00000296604.3 - 5 781 c.296C>G c.(295-297)tCa>tGa p.S99* RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124*|RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99* NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 99 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) CACAAGAGCTGATGTCATAAA 0.299000 15 75 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127512238 127512238 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:127512238G>A ENST00000299130.3 + 1 124 c.112G>A c.(112-114)Gac>Aac p.D38N BCCIP_ENST00000368759.5_Missense_Mutation_p.D38N|BCCIP_ENST00000429863.2_Missense_Mutation_p.D38N|BCCIP_ENST00000278100.6_Missense_Mutation_p.D38N NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 38 cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) tgaggatgaagacgatgatga 0.527000 5 59 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 186997899 186997899 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:186997899G>A ENST00000296795.3 + 2 230 c.126G>A c.(124-126)ttG>ttA p.L42L NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 LRRNT. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) ACCTGAAGTTGACTCAGGTAC 0.498000 4 47 0 0 1 0 0 PCBP4 57060 broad.mit.edu 37 3 51994209 51994209 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:51994209C>T ENST00000461554.1 - 7 714 c.383G>A c.(382-384)cGa>cAa p.R128Q PCBP4_ENST00000395013.3_Missense_Mutation_p.R51Q|PCBP4_ENST00000322099.7_Missense_Mutation_p.R128Q|PCBP4_ENST00000428823.2_Missense_Mutation_p.R128Q|PCBP4_ENST00000471622.1_Missense_Mutation_p.R128Q|PCBP4_ENST00000484633.1_Missense_Mutation_p.R128Q|PCBP4_ENST00000355852.2_Missense_Mutation_p.R128Q|PCBP4_ENST00000395014.2_Missense_Mutation_p.R94Q NM_001174100.1 NP_001167571.1 P57723 PCBP4_HUMAN poly(rC) binding protein 4 128 KH 2. cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCTCACCTCTCGGATCTCCTT 0.592000 15 56 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61991019 61991019 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:61991019C>T ENST00000370263.4 - 2 330 c.109G>A c.(109-111)Gag>Aag p.E37K CHRNA4_ENST00000463705.1_Intron NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 37 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) AGCCGCTCCTCGGCGTGGGCC 0.667000 11 28 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158647509 158647509 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:158647509C>T ENST00000368147.4 - 7 1108 c.928G>A c.(928-930)Gag>Aag p.E310K 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) AGATTTCTCTCAAGTCCCTTG 0.453000 12 39 0 0 1 0 0 FCN1 2219 broad.mit.edu 37 9 137809709 137809709 + Silent SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:137809709C>G ENST00000371806.3 - 1 100 c.9G>C c.(7-9)ctG>ctC p.L3L NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 3 opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TGGCTCCACTCAGCTCCATGC 0.587000 21 51 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3600251 3600251 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:3600251C>T ENST00000302006.3 + 2 1241 c.1189C>T c.(1189-1191)Ccc>Tcc p.P397S CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 397 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CGTTGGCGCTCCCCACGCCGC 0.662000 7 39 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184103022 184103022 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:184103022C>T ENST00000204604.1 + 14 2060 c.1814C>T c.(1813-1815)tCa>tTa p.S605L CHRD_ENST00000450923.1_Missense_Mutation_p.S605L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.S235L|CHRD_ENST00000348986.3_Missense_Mutation_p.S565L NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 605 CHRD 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCTATGGCTCAGAGGTAAGG 0.582000 18 62 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49047507 49047507 + Nonsense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:49047507C>G ENST00000267163.4 + 24 2639 c.2501C>G c.(2500-2502)tCa>tGa p.S834* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 834 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11)|p.R830fs*8(1)|p.S834*(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATCTTAGTATCAATTGGTGAA 0.259000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 25 81 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33596062 33596062 + Nonsense_Mutation SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:33596062G>T ENST00000504830.1 - 17 2966 c.2631C>A c.(2629-2631)tgC>tgA p.C877* ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.C792*|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 877 TSP type-1 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 CCTTTTCATGGCACTTCTTCT 0.527000 HNSCC(64;0.19) 17 112 2.94398e-08 3.05563e-08 1 1 0 UBR1 197131 broad.mit.edu 37 15 43294862 43294862 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:43294862G>A ENST00000290650.4 - 32 3628 c.3550C>T c.(3550-3552)Cat>Tat p.H1184Y UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1184 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AGGTCAACATGAATGCGCTGC 0.413000 13 44 0 0 1 0 0 AREL1 9870 broad.mit.edu 37 14 75143291 75143291 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr14:75143291G>A ENST00000356357.4 - 6 1161 c.646C>T c.(646-648)Cat>Tat p.H216Y AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 p.H216D(1) CTTACCTCATGAATGGACAAG 0.453000 23 113 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63029226 63029226 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:63029226G>C ENST00000561311.1 + 28 3738 c.3508G>C c.(3508-3510)Gag>Cag p.E1170Q TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.E1170Q Q9Y4G6 TLN2_HUMAN talin 2 1170 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GCTCATTCAAGAGGCCAAGCA 0.577000 14 41 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349067 150349067 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:150349067G>A ENST00000218316.3 + 2 1081 c.1012G>A c.(1012-1014)Gcc>Acc p.A338T NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 338 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCTGGCCCGCGCCCGTGCCCA 0.567000 8 95 0 0 1 0 0 TNFSF13B 10673 broad.mit.edu 37 13 108959240 108959240 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:108959240C>T ENST00000375887.4 + 6 990 c.812C>T c.(811-813)tCa>tTa p.S271L TNFSF13B_ENST00000430559.1_Missense_Mutation_p.S252L NM_006573.4 NP_006564.1 Q9Y275 TN13B_HUMAN tumor necrosis factor (ligand) superfamily, member 13b 271 cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) GCACAAATATCACTGGATGGA 0.393000 15 38 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64395407 64395407 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:64395407C>G ENST00000262043.3 + 4 2124 c.1784C>G c.(1783-1785)tCt>tGt p.S595C PHF3_ENST00000393387.1_Missense_Mutation_p.S595C|PHF3_ENST00000509330.1_Missense_Mutation_p.S595C Q92576 PHF3_HUMAN PHD finger protein 3 595 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TTAACTCATTCTTTGAGTGAT 0.378000 16 58 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151163897 151163897 + Missense_Mutation SNP A A T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:151163897A>T ENST00000282466.3 - 4 3871 c.3872T>A c.(3871-3873)tTc>tAc p.F1291Y NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1291 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AAGGGGTGGGAAGGGAAGCTC 0.433000 53 124 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20563711 20563711 + Missense_Mutation SNP T T A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:20563711T>A ENST00000202677.7 - 20 2697 c.2690A>T c.(2689-2691)gAt>gTt p.D897V NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 ATTTGAAGCATCGGTGGGACT 0.463000 16 26 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121930184 121930184 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:121930184C>T ENST00000265922.3 - 8 1925 c.1464G>A c.(1462-1464)ctG>ctA p.L488L BRINP1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 bone morphogenetic protein/retinoic acid inducible neural-specific 1 488 GCAGGTACTTCAGCTCCAGGT 0.577000 9 34 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433227 55433227 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:55433227C>T ENST00000314259.3 + 1 614 c.585C>T c.(583-585)ctC>ctT p.L195L NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TCCTGGGCCTCTTAGTTACCC 0.443000 35 78 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140682702 140682702 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:140682702C>T ENST00000239451.4 - 1 910 c.731G>A c.(730-732)gGg>gAg p.G244E NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 244 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) TGCCTGTTTCCCATACATGGA 0.403000 23 51 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99770957 99770957 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:99770957G>C ENST00000370597.3 - 2 517 c.162C>G c.(160-162)ctC>ctG p.L54L CRTAC1_ENST00000298819.4_Silent_p.L54L|CRTAC1_ENST00000370591.2_Silent_p.L54L NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 54 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CACCATAGTTGAGCTGGGTGG 0.537000 35 83 0 0 1 0 0 ARPC5 10092 broad.mit.edu 37 1 183599601 183599601 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:183599601C>T ENST00000359856.6 - 3 454 c.388G>A c.(388-390)Gaa>Aaa p.E130K ARPC5_ENST00000294742.6_Missense_Mutation_p.E133K|ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000367534.1_Missense_Mutation_p.E130K NM_005717.3 NP_005708.1 O15511 ARPC5_HUMAN actin related protein 2/3 complex, subunit 5, 16kDa 130 actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cell projection|cytoplasm actin binding|structural constituent of cytoskeleton cervix(1)|large_intestine(1)|lung(2) 4 CTTACCTTTTCATGCCATTGC 0.348000 12 53 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143959251 143959251 + Splice_Site SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr8:143959251C>G ENST00000377675.3 - 4 537 c.e4-1 CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AGCCACATTTCTGCAAAACTC 0.532000 Familial Hyperaldosteronism type I 12 41 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36206116 36206116 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:36206116C>T ENST00000392197.2 + 3 906 c.588C>T c.(586-588)ctC>ctT p.L196L ZBTB32_ENST00000262630.3_Silent_p.L196L Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 196 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGAAACGCCTCCAAGCCCCTG 0.587000 18 40 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58467098 58467098 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:58467098C>T ENST00000357552.3 - 24 2536 c.2311G>A c.(2311-2313)Gag>Aag p.E771K SYCP2_ENST00000371001.2_Missense_Mutation_p.E771K Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 771 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AATTCTTTCTCTGCTTTTCTA 0.333000 15 35 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46594682 46594682 + Nonsense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:46594682G>C ENST00000242848.4 - 5 698 c.350C>G c.(349-351)tCa>tGa p.S117* ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.S117* Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 117 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCTCCCTCTTGAAGATTCTTT 0.284000 11 33 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117243302 117243302 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:117243302G>C ENST00000332958.2 + 13 1441 c.1425G>C c.(1423-1425)caG>caC p.Q475H NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 475 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGGTAGAACAGAGAGTTATTA 0.378000 19 61 0 0 1 0 0 MS4A7 58475 broad.mit.edu 37 11 60154219 60154219 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:60154219C>T ENST00000358246.1 + 3 370 c.177C>T c.(175-177)atC>atT p.I59I MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Silent_p.I59I|MS4A7_ENST00000300184.3_Silent_p.I104I NM_206938.1|NM_206940.1 NP_996821.1|NP_996823.1 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 104 integral to membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 TCTCAATTATCTCTGGAAAAC 0.403000 24 55 0 0 1 0 0 C5orf45 51149 broad.mit.edu 37 5 179264605 179264605 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:179264605C>G ENST00000292586.6 - 7 908 c.818G>C c.(817-819)aGa>aCa p.R273T C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523084.1_Missense_Mutation_p.R139T|SQSTM1_ENST00000376929.3_3'UTR|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.R218T|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518235.1_Intron NM_016175.3 NP_057259.2 Q6NTE8 CE045_HUMAN chromosome 5 open reading frame 45 273 breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 GAGGCCTTCTCTTGAGGCCTG 0.632000 31 64 0 0 1 0 0 SLC26A6 65010 broad.mit.edu 37 3 48665891 48665891 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:48665891C>T ENST00000358747.6 - 15 1963 c.1713G>A c.(1711-1713)caG>caA p.Q571Q SLC26A6_ENST00000455886.2_Silent_p.Q556Q|SLC26A6_ENST00000337000.8_Silent_p.Q485Q|SLC26A6_ENST00000383733.3_Silent_p.Q592Q|SLC26A6_ENST00000395550.2_Silent_p.Q592Q|SLC26A6_ENST00000420764.2_Silent_p.Q592Q NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) TCTCCTCTTTCTGCAGTTGCT 0.572000 38 96 0 0 1 0 0 ANKRD13A 88455 broad.mit.edu 37 12 110468561 110468561 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:110468561C>T ENST00000261739.4 + 12 1512 c.1346C>T c.(1345-1347)tCa>tTa p.S449L C12orf76_ENST00000546651.2_Intron NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 449 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 CAGGCTGATTCAGGtaaaaaa 0.368000 7 8 0 0 1 0 0 SS18L2 51188 broad.mit.edu 37 3 42632421 42632421 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:42632421G>C ENST00000447630.1 + 2 240 c.32G>C c.(31-33)aGg>aCg p.R11T SEC22C_ENST00000417572.1_Intron|SS18L2_ENST00000011691.4_Missense_Mutation_p.R11T Q9UHA2 S18L2_HUMAN synovial sarcoma translocation gene on chromosome 18-like 2 11 prostate(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) GACTGGCTGAGGGGCAAGGCG 0.672000 12 49 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135153600 135153600 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:135153600G>A ENST00000372169.2 - 21 6881 c.6699C>T c.(6697-6699)ttC>ttT p.F2233F SETX_ENST00000224140.5_Silent_p.F2233F|SETX_ENST00000393220.1_Silent_p.F2233F Q7Z333 SETX_HUMAN senataxin 2233 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GCAGTCTGCAGAAGCGAGCCA 0.458000 30 88 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103018061 103018061 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:103018061C>T ENST00000306312.3 - 18 2232 c.1971G>A c.(1969-1971)gtG>gtA p.V657V SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.V90V|SLC26A5_ENST00000393723.1_Silent_p.V627V|SLC26A5_ENST00000393727.1_Silent_p.V659V|SLC26A5_ENST00000393730.1_Silent_p.V625V|SLC26A5_ENST00000393729.1_Silent_p.V620V|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Silent_p.V625V|SLC26A5_ENST00000339444.6_Silent_p.V657V NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 657 STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 CCAGAGTTTTCACTCCAACAG 0.443000 18 43 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51497406 51497406 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:51497406C>T ENST00000371117.3 - 65 11897 c.11622G>A c.(11620-11622)ctG>ctA p.L3874L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3874 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCAGACAGCTCAGAGCCAGCC 0.438000 14 43 0 0 1 0 0 C9orf72 203228 broad.mit.edu 37 9 27561630 27561630 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:27561630G>C ENST00000380003.3 - 5 681 c.618C>G c.(616-618)ctC>ctG p.L206L C9orf72_ENST00000379997.3_Silent_p.L206L|C9orf72_ENST00000488117.1_5'UTR NM_001256054.1|NM_018325.3 NP_001242983.1|NP_060795.1 Q96LT7 CI072_HUMAN chromosome 9 open reading frame 72 206 breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1) 23 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) CATCATCATTGAGTACTGTAT 0.313000 11 41 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1460027 1460027 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:1460027G>A ENST00000345913.4 + 7 883 c.792G>A c.(790-792)gaG>gaA p.E264E TPO_ENST00000349624.3_Silent_p.E264E|TPO_ENST00000346956.3_Silent_p.E264E|TPO_ENST00000329066.4_Silent_p.E264E|TPO_ENST00000337415.3_Silent_p.E264E|TPO_ENST00000382201.3_Silent_p.E264E|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.E264E NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 264 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGACTTGTGAGAACCAAAACC 0.443000 8 30 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239741 3239741 + Missense_Mutation SNP C C T rs146955381 byFrequency TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:3239741C>T ENST00000217939.6 - 5 4139 c.3985G>A c.(3985-3987)Gat>Aat p.D1329N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1329 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTGGCAACATCATCCTTAATT 0.373000 41 35 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186281364 186281364 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:186281364G>A ENST00000445192.2 + 11 3896 c.3851G>A c.(3850-3852)aGa>aAa p.R1284K PRG4_ENST00000367486.3_Missense_Mutation_p.R1241K|PRG4_ENST00000367483.4_Missense_Mutation_p.R1243K|PRG4_ENST00000367484.3_Missense_Mutation_p.R813K|TPR_ENST00000367478.4_3'UTR|PRG4_ENST00000367485.4_Missense_Mutation_p.R1191K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1284 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGCCCTGGAAGAAGGCCTGCT 0.403000 57 71 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90119340 90119340 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:90119340G>A ENST00000268138.7 + 1 628 c.523G>A c.(523-525)Gag>Aag p.E175K TICRR_ENST00000560985.1_Missense_Mutation_p.E175K|RP11-429B14.1_ENST00000559041.1_RNA TOPBP1-interacting checkpoint and replication regulator GTCTGGGTGCGAGGCCCAGGC 0.662000 6 19 0 0 1 0 0 PIR 8544 broad.mit.edu 37 X 15474083 15474083 + Nonsense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:15474083G>C ENST00000380421.3 - 5 828 c.368C>G c.(367-369)tCa>tGa p.S123* PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Nonsense_Mutation_p.S123* NM_001018109.2|NM_003662.3 NP_001018119.1|NP_003653.1 O00625 PIR_HUMAN pirin (iron-binding nuclear protein) 123 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 Hepatocellular(33;0.183) CATCTTCTCTGAGCTCCTCAA 0.527000 24 146 0 0 1 0 0 AP3B1 8546 broad.mit.edu 37 5 77409639 77409639 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:77409639C>G ENST00000255194.6 - 19 2361 c.2186G>C c.(2185-2187)gGa>gCa p.G729A AP3B1_ENST00000519295.1_Missense_Mutation_p.G680A NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 729 Glu/Ser-rich. endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TGACTCCCGTCCACTCTCACT 0.453000 Hermansky-Pudlak syndrome 10 92 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17750460 17750460 + Missense_Mutation SNP G G C rs140651691 byFrequency TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:17750460G>C ENST00000380060.3 + 8 5107 c.4769G>C c.(4768-4770)aGc>aCc p.S1590T NHS_ENST00000398097.3_Missense_Mutation_p.S1434T NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1590 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CCTGCAGCCAGCAGCAGCCGC 0.592000 4 47 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21581919 21581919 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:21581919C>T ENST00000298925.5 + 18 2208 c.2055C>T c.(2053-2055)tgC>tgT p.C685C NELL1_ENST00000532434.1_Silent_p.C610C|NELL1_ENST00000325319.5_Silent_p.C600C|NELL1_ENST00000357134.5_Silent_p.C657C|NELL1_ENST00000529218.1_Intron Q92832 NELL1_HUMAN NEL-like 1 (chicken) 657 VWFC 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GTTCTGTCTGCTCCTGCAAGG 0.542000 14 20 0 0 1 0 0 GHRHR 2692 broad.mit.edu 37 7 31018736 31018736 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:31018736G>A ENST00000409316.1 + 10 885 c.448G>A c.(448-450)Gag>Aag p.E150K GHRHR_ENST00000326139.2_Silent_p.V383V|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Silent_p.V319V Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 0 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) CCCTGGAGGTGAGGACTGAGA 0.592000 10 46 0 0 1 0 0 RHCE 6006 broad.mit.edu 37 1 25729193 25729193 + Missense_Mutation SNP G G A rs1053346 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:25729193G>A ENST00000349320.3 - 5 720 c.332C>T c.(331-333)gCg>gTg p.A111V RHCE_ENST00000349438.4_Missense_Mutation_p.A127V|RHCE_ENST00000374352.2_Missense_Mutation_p.A111V|RHCE_ENST00000243186.6_Missense_Mutation_p.A127V|RHCE_ENST00000425135.1_Missense_Mutation_p.A127V|RHCE_ENST00000294413.7_Missense_Mutation_p.A127V|RHCE_ENST00000346452.4_Missense_Mutation_p.A127V|RHCE_ENST00000455194.1_Missense_Mutation_p.A127V|RHCE_ENST00000413854.1_Missense_Mutation_p.A127V|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000340849.4_Missense_Mutation_p.A127V P18577 RHCE_HUMAN Rh blood group, CcEe antigens 127 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) GACAGCACCCGCTGAGATCAG 0.552000 23 31 0 0 1 0 0 FOXD2 2306 broad.mit.edu 37 1 47904362 47904362 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:47904362C>G ENST00000334793.5 + 1 2674 c.555C>G c.(553-555)ttC>ttG p.F185L NM_004474.3 NP_004465.3 O60548 FOXD2_HUMAN forkhead box D2 185 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(4) 4 READ - Rectum adenocarcinoma(2;0.0908) ACGACTGCTTCGTCAAGATCC 0.637000 28 81 0 0 1 0 0 CYB561 1534 broad.mit.edu 37 17 61514723 61514723 + Silent SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:61514723G>T ENST00000584031.1 - 2 485 c.186C>A c.(184-186)atC>atA p.I62I CYB561_ENST00000582297.1_Silent_p.I62I|CYB561_ENST00000582034.1_Silent_p.I33I|CYB561_ENST00000392975.2_Silent_p.I62I|CYB561_ENST00000448884.2_Silent_p.I62I|CYB561_ENST00000581573.1_Silent_p.I62I|CYB561_ENST00000582997.1_Silent_p.I69I|CYB561_ENST00000392976.1_Silent_p.I62I|CYB561_ENST00000542042.1_Silent_p.I129I|CYB561_ENST00000360793.3_Silent_p.I62I P49447 CY561_HUMAN cytochrome b561 62 Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding lung(2)|ovary(1)|prostate(1) 4 READ - Rectum adenocarcinoma(1115;0.0689) CCTGCAGGAAGATCAGGCCTA 0.647000 16 47 6.31663e-08 6.54312e-08 1 1 0 PPP1R16B 26051 broad.mit.edu 37 20 37524349 37524349 + Nonsense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:37524349C>T ENST00000299824.1 + 4 652 c.463C>T c.(463-465)Cag>Tag p.Q155* PPP1R16B_ENST00000373331.2_Nonsense_Mutation_p.Q155* NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 155 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GATCCTCGTTCAGTAGTACGT 0.567000 9 18 0 0 1 0 0 SLC9A6 10479 broad.mit.edu 37 X 135126738 135126738 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:135126738G>A ENST00000370695.4 + 16 1996 c.1961G>A c.(1960-1962)gGa>gAa p.G654E SLC9A6_ENST00000370698.3_Missense_Mutation_p.G622E|SLC9A6_ENST00000370701.1_Missense_Mutation_p.G602E NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 622 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) AGATTTATGGGAAACAGTTCT 0.468000 23 17 0 0 1 0 0 BLOC1S6 26258 broad.mit.edu 37 15 45884353 45884353 + Translation_Start_Site SNP G G A rs149605903 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:45884353G>A ENST00000568816.1 + 0 227 BLOC1S6_ENST00000564765.1_De_novo_Start_OutOfFrame|BLOC1S6_ENST00000220531.3_Missense_Mutation_p.D35N|BLOC1S6_ENST00000566753.1_Missense_Mutation_p.D35N|BLOC1S6_ENST00000562384.1_Intron|BLOC1S6_ENST00000565216.1_Intron|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000565323.1_Missense_Mutation_p.D40N|BLOC1S6_ENST00000567740.1_Intron|BLOC1S6_ENST00000567461.1_Intron|BLOC1S6_ENST00000565409.1_De_novo_Start_OutOfFrame biogenesis of lysosomal organelles complex-1, subunit 6, pallidin CACTTCTCCAGATGAAGGGTT 0.383000 15 38 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18174783 18174783 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:18174783G>A ENST00000600835.2 - 14 1819 c.1521C>T c.(1519-1521)ctC>ctT p.L507L IL12RB1_ENST00000593993.2_Silent_p.L507L P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell 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 interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 GCAGGCCACTGAGGGTAACTT 0.647000 9 19 0 0 1 0 0 SFTPB 6439 broad.mit.edu 37 2 85893860 85893860 + Silent SNP C C T rs45478492 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:85893860C>T ENST00000393822.3 - 5 408 c.309G>A c.(307-309)acG>acA p.T103T SFTPB_ENST00000519937.2_Silent_p.T91T|SFTPB_ENST00000409383.1_Silent_p.T103T|SFTPB_ENST00000342375.3_Silent_p.T91T P07988 PSPB_HUMAN surfactant protein B 91 Saposin B-type 1. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 ACTTCCTCATCGTGTCCTGGG 0.632000 43 103 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057637 9057637 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:9057637C>T ENST00000397910.4 - 3 30012 c.29809G>A c.(29809-29811)Gaa>Aaa p.E9937K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9939 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 GTGATCACTTCAGTGATGATG 0.453000 64 115 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145567755 145567755 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:145567755G>A ENST00000355594.4 + 13 3092 c.3005G>A c.(3004-3006)tGa>tAa p.*1002* NM_144698.3 NP_653299.4 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 0 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) GAAGAGGAGTGAGGCAGCCTC 0.478000 39 117 0 0 1 0 0 KLRC2 3822 broad.mit.edu 37 12 10587089 10587089 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:10587089C>T ENST00000381902.2 - 3 333 c.327G>A c.(325-327)caG>caA p.Q109Q NKG2-E_ENST00000539033.1_Silent_p.Q109Q|KLRC2_ENST00000536833.2_Silent_p.Q50Q|KLRC2_ENST00000381901.1_Intron NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 109 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 ATGTACCTTTCTGCGTTCTTG 0.279000 13 100 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52619618 52619618 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:52619618C>G ENST00000374001.2 - 2 222 c.83G>C c.(82-84)gGa>gCa p.G28A A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000373997.3_Missense_Mutation_p.G28A|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.G28A|A1CF_ENST00000395495.1_Missense_Mutation_p.G28A|A1CF_ENST00000373993.1_Missense_Mutation_p.G28A Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CAAGCTATATCCTGTGCGCTG 0.498000 15 43 0 0 1 0 0 SLC46A1 113235 broad.mit.edu 37 17 26732064 26732064 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:26732064G>A ENST00000440501.1 - 2 746 c.651C>T c.(649-651)gcC>gcT p.A217A SLC46A1_ENST00000321666.5_Silent_p.A217A|SLC46A1_ENST00000584729.1_5'UTR NM_080669.4 NP_542400.2 Q96NT5 PCFT_HUMAN solute carrier family 46 (folate transporter), member 1 217 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) CTATCAGCAAGGCCAAGGCCA 0.607000 16 62 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69737198 69737198 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:69737198G>A ENST00000260363.4 + 19 2566 c.2449G>A c.(2449-2451)Gac>Aac p.D817N KIF23_ENST00000537891.1_Missense_Mutation_p.D530N|KIF23_ENST00000395392.2_Missense_Mutation_p.D810N|KIF23_ENST00000559279.1_Missense_Mutation_p.D713N|KIF23_ENST00000352331.4_Missense_Mutation_p.D713N|KIF23_ENST00000558585.1_Missense_Mutation_p.D530N NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 817 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 CTCTGCAGGAGACAGATGGGT 0.453000 10 65 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37513444 37513444 + Missense_Mutation SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:37513444C>A ENST00000379066.1 - 6 1548 c.786G>T c.(784-786)aaG>aaT p.K262N PRKD3_ENST00000234179.2_Missense_Mutation_p.K262N O94806 KPCD3_HUMAN protein kinase D3 262 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) ACATTACCATCTTTTCCATCC 0.433000 14 53 1.15088e-07 1.18506e-07 1 1 0 SLC27A5 10998 broad.mit.edu 37 19 59012064 59012064 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:59012064C>T ENST00000263093.2 - 5 1301 c.1192G>A c.(1192-1194)Gac>Aac p.D398N SLC27A5_ENST00000601355.1_Missense_Mutation_p.D314N NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 398 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) TGTGTCCGGTCCTCTGGTTGC 0.572000 17 22 0 0 1 0 0 CECR6 27439 broad.mit.edu 37 22 17601328 17601328 + Nonsense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr22:17601328C>T ENST00000331437.3 - 1 815 c.690G>A c.(688-690)tgG>tgA p.W230* CECR6_ENST00000399875.1_Intron NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 230 haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) CAGTGGCGATCCAGGAGCACC 0.701000 3 6 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66834533 66834533 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:66834533C>T ENST00000423207.2 + 14 2166 c.1681C>T c.(1681-1683)Cgg>Tgg p.R561W PDE4B_ENST00000480109.2_Missense_Mutation_p.R343W|PDE4B_ENST00000371049.3_Missense_Mutation_p.R576W|PDE4B_ENST00000329654.4_Missense_Mutation_p.R576W|PDE4B_ENST00000371045.5_Missense_Mutation_p.R404W NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 576 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) GGAATTGTATCGGCAATGGAC 0.463000 16 70 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49397721 49397721 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:49397721C>G ENST00000418115.1 - 5 887 c.503G>C c.(502-504)aGa>aCa p.R168T RHOA_ENST00000422781.1_3'UTR|RHOA_ENST00000454011.2_3'UTR NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 168 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) AAAAACCTCTCTCACTCCATC 0.493000 40 104 0 0 1 0 0 BAG1 573 broad.mit.edu 37 9 33256861 33256861 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:33256861C>T ENST00000472232.3 - 5 909 c.823G>A c.(823-825)Gat>Aat p.D275N BAG1_ENST00000467389.2_5'UTR|BAG1_ENST00000379704.2_Missense_Mutation_p.D160N NM_001172415.1|NM_004323.5 NP_001165886.1|NP_004314 Q99933 BAG1_HUMAN BCL2-associated athanogene 275 BAG.|Interaction with PPP1R15A. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding cytoplasm|intermediate filament cytoskeleton|nucleus protein binding|receptor signaling protein activity endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00506) ACTCTCCTATCAAGTTTGCAG 0.428000 22 66 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151671704 151671704 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:151671704C>T ENST00000402676.2 + 4 2418 c.2178C>T c.(2176-2178)gaC>gaT p.D726D AKAP12_ENST00000253332.1_Silent_p.D726D|AKAP12_ENST00000354675.6_Silent_p.D628D|AKAP12_ENST00000359755.5_Silent_p.D621D NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 726 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CGGGGACAGACGGGATCCTTG 0.587000 40 101 0 0 1 0 0 ECM1 1893 broad.mit.edu 37 1 150484937 150484937 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:150484937G>A ENST00000369047.4 + 8 1318 c.1193G>A c.(1192-1194)cGt>cAt p.R398H ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.R425H|ECM1_ENST00000346569.6_Missense_Mutation_p.R273H NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 398 2 X approximate repeats. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TGCTTTGCCCGTCGGGCTCCT 0.567000 23 104 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62263049 62263049 + Nonsense_Mutation SNP C C T rs117405402 byFrequency TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:62263049C>T ENST00000371158.2 + 11 1465 c.1351C>T c.(1351-1353)Cga>Tga p.R451* INADL_ENST00000316485.6_Nonsense_Mutation_p.R451* NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 451 PDZ 3. 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 AACCCTAGTTCGAAGGAAGAC 0.448000 33 84 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69351819 69351819 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr8:69351819G>A ENST00000337103.4 + 1 1672 c.80G>A c.(79-81)cGt>cAt p.R27H C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.R138H|C8orf34_ENST00000539993.1_Missense_Mutation_p.R52H|C8orf34_ENST00000523686.1_Missense_Mutation_p.R52H|C8orf34_ENST00000348340.2_Missense_Mutation_p.R52H Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 52 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAAGGGAACCGTGGACAACTT 0.403000 17 38 0 0 1 0 0 SLK 9748 broad.mit.edu 37 10 105780291 105780291 + Nonsense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:105780291C>T ENST00000369755.3 + 17 3912 c.3367C>T c.(3367-3369)Cag>Tag p.Q1123* SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1092* NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 1123 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GAGAATGGCTCAGCATCAGAA 0.393000 12 46 0 0 1 0 0 NDRG3 57446 broad.mit.edu 37 20 35310978 35310978 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:35310978C>T ENST00000373803.2 - 7 443 c.387G>A c.(385-387)ctG>ctA p.L129L NDRG3_ENST00000349004.1_Silent_p.L129L|NDRG3_ENST00000359675.2_Silent_p.L117L|NDRG3_ENST00000373773.3_Silent_p.L34L|NDRG3_ENST00000540765.1_Silent_p.L25L Q9UGV2 NDRG3_HUMAN NDRG family member 3 129 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) TGATGCTTTTCAGGCTGTGAA 0.453000 39 48 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1487786 1487786 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:1487786G>A ENST00000300954.5 - 5 652 c.591C>T c.(589-591)aaC>aaT p.N197N PCSK4_ENST00000587784.1_5'UTR NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 197 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCTCACCGGTTCTCTTTGC 0.682000 6 3 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111216259 111216259 + Silent SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:111216259C>G ENST00000369769.2 - 1 1396 c.1173G>C c.(1171-1173)ctG>ctC p.L391L NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 391 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGACGCCTTCAGCGTTTGCC 0.587000 28 83 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142490071 142490071 + RNA SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr8:142490071G>T ENST00000430863.1 - 0 994 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TCTCCTGACCGTGGCACCGTT 0.597000 10 35 1.15088e-07 1.18506e-07 1 1 0 FAM63A 55793 broad.mit.edu 37 1 150972348 150972348 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:150972348G>A ENST00000361936.5 - 7 1782 c.828C>T c.(826-828)ctC>ctT p.L276L FAM63A_ENST00000493834.2_Silent_p.L181L|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000312210.5_Silent_p.L134L|FAM63A_ENST00000361738.6_Silent_p.L324L NM_018379.4 NP_060849 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 276 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTTCTGTCACGAGGTTGGTGT 0.493000 8 39 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89735197 89735197 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:89735197G>A ENST00000343435.5 - 3 578 c.42C>T c.(40-42)atC>atT p.I14I RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Silent_p.I14I NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 14 plasma membrane GTP binding|GTPase activity p.I14I(1) breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TAAAGTTCTCGATGAGGCACA 0.478000 44 132 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239561 3239561 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:3239561C>T ENST00000217939.6 - 5 4319 c.4165G>A c.(4165-4167)Ggg>Agg p.G1389R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1389 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGTAGCCTCCCAGGCTGGGCC 0.507000 15 8 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111296402 111296402 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:111296402G>C ENST00000308208.5 + 4 434 c.192G>C c.(190-192)aaG>aaC p.K64N CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000552694.1_5'UTR|CCDC63_ENST00000545036.1_Missense_Mutation_p.K24N NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 64 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AGGAGATCAAGACCCTGAAGA 0.502000 7 19 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696036 48696036 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:48696036C>T ENST00000352832.5 + 31 5718 c.5346C>T c.(5344-5346)gaC>gaT p.D1782D CACNA1G_ENST00000505165.1_Silent_p.D1816D|CACNA1G_ENST00000515411.1_Silent_p.D1798D|CACNA1G_ENST00000442258.2_Silent_p.D1775D|CACNA1G_ENST00000502264.1_Silent_p.D1793D|CACNA1G_ENST00000515165.1_Silent_p.D1816D|CACNA1G_ENST00000354983.4_Silent_p.D1782D|CACNA1G_ENST00000510115.1_Silent_p.D1782D|CACNA1G_ENST00000359106.5_Silent_p.D1816D|CACNA1G_ENST00000515765.1_Silent_p.D1805D|CACNA1G_ENST00000360761.4_Silent_p.D1793D|CACNA1G_ENST00000513964.1_Silent_p.D1771D|CACNA1G_ENST00000507609.1_Silent_p.D1809D|CACNA1G_ENST00000513689.2_Silent_p.D1771D|CACNA1G_ENST00000503485.1_Silent_p.D1782D|CACNA1G_ENST00000507896.1_Silent_p.D1805D|CACNA1G_ENST00000429973.2_Silent_p.D1798D|CACNA1G_ENST00000358244.5_Silent_p.D1782D|CACNA1G_ENST00000510366.1_Silent_p.D1764D|CACNA1G_ENST00000507510.2_Silent_p.D1816D|CACNA1G_ENST00000507336.1_Silent_p.D1805D|CACNA1G_ENST00000514717.1_Silent_p.D1759D|CACNA1G_ENST00000512389.1_Silent_p.D1805D|CACNA1G_ENST00000514181.1_Silent_p.D1791D|CACNA1G_ENST00000514079.1_Silent_p.D1823D NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1816 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGGACTGTGACCAGGAGTCCA 0.577000 4 27 0 0 1 0 0 WDPCP 51057 broad.mit.edu 37 2 63349172 63349172 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:63349172G>A ENST00000409120.1 - 12 5184 c.1634C>T c.(1633-1635)tCt>tTt p.S545F WDPCP_ENST00000398544.3_Missense_Mutation_p.S578F|WDPCP_ENST00000409199.1_Missense_Mutation_p.S545F|WDPCP_ENST00000272321.7_Missense_Mutation_p.S737F O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 737 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 CATTTTGAGAGAACCACCATC 0.279000 15 59 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101656805 101656805 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:101656805G>A ENST00000409318.1 - 6 1045 c.915C>T c.(913-915)ttC>ttT p.F305F TBC1D8_ENST00000376840.4_Silent_p.F290F NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 290 GRAM 2. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 GCAACCTGAAGAAAGCCCGGA 0.572000 6 16 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87196174 87196174 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:87196174G>A ENST00000265724.3 - 7 874 c.457C>T c.(457-459)Cat>Tat p.H153Y ABCB1_ENST00000543898.1_Intron NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 153 ABC transmembrane type-1 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) ATTATAGCATGAAAAAACTGT 0.418000 9 41 0 0 1 0 0 FGD3 89846 broad.mit.edu 37 9 95784614 95784614 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:95784614G>A ENST00000375482.3 + 14 1996 c.1500G>A c.(1498-1500)acG>acA p.T500T FGD3_ENST00000416701.2_Silent_p.T500T|FGD3_ENST00000337352.6_Silent_p.T500T|FGD3_ENST00000538555.1_Silent_p.T103T NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 500 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 TCTAGATCACGAGCACCAGCC 0.637000 16 40 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69721528 69721528 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:69721528G>A ENST00000260363.4 + 10 1165 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K KIF23_ENST00000537891.1_Missense_Mutation_p.E167K|KIF23_ENST00000395392.2_Missense_Mutation_p.E350K|KIF23_ENST00000559279.1_Missense_Mutation_p.E350K|KIF23_ENST00000352331.4_Missense_Mutation_p.E350K|KIF23_ENST00000558585.1_Missense_Mutation_p.E167K NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 350 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 GACCAGAGCAGAAGGGAACAG 0.368000 13 16 0 0 1 0 0 ADAMTSL5 339366 broad.mit.edu 37 19 1508069 1508069 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:1508069C>T ENST00000330475.4 - 7 972 c.529G>A c.(529-531)Gag>Aag p.E177K ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.E187K|ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000590562.1_5'UTR NM_213604.2 NP_998769.2 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 177 proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCGGTCCTCGAGGGCACCC 0.682000 6 11 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7878257 7878257 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:7878257G>A ENST00000264668.2 + 5 713 c.683G>A c.(682-684)aGa>aAa p.R228K MTRR_ENST00000440940.2_Missense_Mutation_p.R201K|MTRR_ENST00000341013.6_3'UTR NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 228 Hinge. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) GATTCAGGAAGAAAGGATTCT 0.468000 9 177 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52858879 52858879 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:52858879C>T ENST00000266041.4 - 7 951 c.855G>A c.(853-855)atG>atA p.M285I ITIH4_ENST00000406595.1_Missense_Mutation_p.M285I|ITIH4_ENST00000346281.5_Missense_Mutation_p.M285I|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000485816.1_Missense_Mutation_p.M285I|ITIH4_ENST00000434759.3_Missense_Mutation_p.M197I|RP5-966M1.6_ENST00000468472.1_3'UTR NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 285 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TCCTGCCACTCATGGAGCCGC 0.572000 37 71 0 0 1 0 0 RPA1 6117 broad.mit.edu 37 17 1780584 1780584 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:1780584C>T ENST00000254719.5 + 8 776 c.666C>T c.(664-666)ttC>ttT p.F222F RPA1_ENST00000573924.1_3'UTR NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 222 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 GGAAGCTTTTCTCCCTAGAAC 0.532000 Nucleotide excision repair (NER) 7 22 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145439622 145439622 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:145439622G>A ENST00000369317.4 + 2 614 c.280G>A c.(280-282)Gga>Aga p.G94R TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 94 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CATGAGACCTGGAAACAAATA 0.398000 33 122 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94493358 94493358 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:94493358C>T ENST00000375708.3 - 7 1215 c.1017G>A c.(1015-1017)ccG>ccA p.P339P ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.P199P NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 339 Kringle. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCAGGGCCCACGGCTGGCACT 0.612000 33 51 0 0 1 0 0 KLHL40 131377 broad.mit.edu 37 3 42727254 42727254 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:42727254C>T ENST00000287777.4 + 1 244 c.144C>T c.(142-144)cgC>cgT p.R48R NM_152393.2 NP_689606.2 kelch-like family member 40 CGTGCCATCGCCTGGTGCTGG 0.692000 7 28 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 96074933 96074933 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:96074933G>C ENST00000524717.1 - 1 1411 c.127C>G c.(127-129)Cgg>Ggg p.R43G NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 43 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) ACAGCGATCCGAGCCCGGAGG 0.657000 T """MECT1, CRTC3""" salivary gland mucoepidermoid OREG0021305 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 9 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44497005 44497005 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:44497005G>C ENST00000425708.2 - 2 378 c.37C>G c.(37-39)Cag>Gag p.Q13E ZNF445_ENST00000396077.2_Missense_Mutation_p.Q13E P59923 ZN445_HUMAN zinc finger protein 445 13 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) GACTGGGCCTGAGCTGGATAG 0.567000 5 44 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123789171 123789171 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:123789171G>C ENST00000420886.2 - 28 3725 c.3726C>G c.(3724-3726)ctC>ctG p.L1242L SBNO1_ENST00000602398.1_Silent_p.L1242L|SBNO1_ENST00000602750.1_Silent_p.L1241L|SBNO1_ENST00000267176.4_Silent_p.L1241L NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1242 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TTTCTAATTTGAGCTGCTTCC 0.299000 7 20 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173952637 173952637 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:173952637G>C ENST00000367696.2 - 4 862 c.511C>G c.(511-513)Ctc>Gtc p.L171V RC3H1_ENST00000258349.4_Missense_Mutation_p.L171V|RC3H1_ENST00000367694.2_Missense_Mutation_p.L171V Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 171 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TGGTGCTGGAGAATGAGCTCT 0.483000 20 85 0 0 1 0 0 STMN3 50861 broad.mit.edu 37 20 62275132 62275132 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:62275132C>G ENST00000370053.1 - 3 349 c.268G>C c.(268-270)Gag>Cag p.E90Q STMN3_ENST00000540534.1_Missense_Mutation_p.E79Q NM_001276310.1|NM_015894.2 NP_001263239.1|NP_056978.2 Q9NZ72 STMN3_HUMAN stathmin-like 3 90 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding kidney(1)|large_intestine(1)|lung(5)|prostate(1) 8 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) TCGGCTGCCTCCAGCCGCTTT 0.642000 13 36 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209307167 209307167 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:209307167C>G ENST00000272847.2 + 5 703 c.490C>G c.(490-492)Ctc>Gtc p.L164V PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 164 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TGTGGCTATTCTCATCATTGG 0.438000 34 82 0 0 1 0 0 SNRPB2 6629 broad.mit.edu 37 20 16719545 16719545 + Missense_Mutation SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:16719545C>A ENST00000246071.6 + 5 643 c.427C>A c.(427-429)Cag>Aag p.Q143K SNRPB2_ENST00000377943.5_Missense_Mutation_p.Q143K NM_003092.4 NP_003083.1 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B 143 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding large_intestine(2)|lung(2)|urinary_tract(1) 5 ACCAAATCCTCAGGTAATTTT 0.328000 6 16 2.0095e-06 2.05697e-06 1 1 0 BRINP1 1620 broad.mit.edu 37 9 121929416 121929416 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:121929416C>T ENST00000265922.3 - 8 2693 c.2232G>A c.(2230-2232)ctG>ctA p.L744L BRINP1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 bone morphogenetic protein/retinoic acid inducible neural-specific 1 744 CCGTGTTGTACAGGTCCAAGG 0.537000 28 127 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141724872 141724872 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:141724872C>T ENST00000475668.2 + 8 959 c.905C>T c.(904-906)gCg>gTg p.A302V MGAM_ENST00000549489.2_Missense_Mutation_p.A302V O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 302 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) TTGTATGGTGCGCAGACATTC 0.398000 17 26 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25016097 25016097 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:25016097C>G ENST00000381989.3 - 30 3658 c.3553G>C c.(3553-3555)Gag>Cag p.E1185Q NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1185 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AAAGGCGACTCATTCTCATCC 0.403000 11 42 0 0 1 0 0 SERBP1 26135 broad.mit.edu 37 1 67890585 67890585 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:67890585G>A ENST00000370994.4 - 4 777 c.663C>T c.(661-663)gtC>gtT p.V221V SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000361219.6_Silent_p.V227V|SERBP1_ENST00000370995.2_Silent_p.V227V|SERBP1_ENST00000370990.5_Silent_p.V221V NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3 NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 227 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 ATTCGTCTTTGACAGTTCCCC 0.368000 34 59 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308805 248308805 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:248308805C>G ENST00000366476.1 + 1 356 c.356C>G c.(355-357)tCt>tGt p.S119C NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GCTGTTATGTCTTATGACCGC 0.453000 116 354 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579529 7579529 + Nonsense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:7579529C>T ENST00000420246.2 - 4 290 c.158G>A c.(157-159)tGg>tAg p.W53* TP53_ENST00000445888.2_Nonsense_Mutation_p.W53*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W53*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W53*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W53*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W53* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 53 Interaction with HRMT1L2. W -> C (in sporadic cancers; somatic mutation).|W -> G (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.W53*(4)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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) TTCAGTGAACCATTGTTCAAT 0.592000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 49 128 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 96074994 96074994 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:96074994G>C ENST00000524717.1 - 1 1350 c.66C>G c.(64-66)ctC>ctG p.L22L NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 22 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) CCCCTCCAAGGAGCCCCGCCC 0.682000 T """MECT1, CRTC3""" salivary gland mucoepidermoid OREG0021305 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150924410 150924410 + Missense_Mutation SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:150924410G>T ENST00000261800.5 - 9 6290 c.6278C>A c.(6277-6279)tCt>tAt p.S2093Y NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2093 Cadherin 18. 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) ATCAGTGGCAGATACCTGAAA 0.443000 36 100 8.16277e-20 8.59239e-20 1 1 0 EML3 256364 broad.mit.edu 37 11 62378910 62378910 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:62378910G>A ENST00000394773.2 - 2 488 c.181C>T c.(181-183)Cct>Tct p.P61S EML3_ENST00000529309.1_Missense_Mutation_p.P61S|EML3_ENST00000278845.4_Missense_Mutation_p.P61S|EML3_ENST00000494176.2_Missense_Mutation_p.P32S NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 61 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TCCCCCGGAGGAGCTGGTGTG 0.602000 8 30 0 0 1 0 0 PXDC1 221749 broad.mit.edu 37 6 3723966 3723966 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:3723966C>G ENST00000380283.4 - 5 1077 c.583G>C c.(583-585)Gag>Cag p.E195Q PXDC1_ENST00000477592.2_5'UTR NM_183373.3 NP_899229.2 Q5TGL8 CF145_HUMAN PX domain containing 1 195 cell communication phosphatidylinositol binding CTGCCATTCTCAAATCTGAAA 0.537000 16 41 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47385224 47385224 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:47385224G>C ENST00000232766.5 + 10 1538 c.1518G>C c.(1516-1518)ctG>ctC p.L506L KLHL18_ENST00000455924.2_Silent_p.L394L NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 506 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) AGTGGTGCCTGATTGTCCCCA 0.622000 21 70 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53677939 53677939 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:53677939G>C ENST00000257934.4 + 17 3266 c.3175G>C c.(3175-3177)Gag>Cag p.E1059Q ESPL1_ENST00000552462.1_Missense_Mutation_p.E1059Q NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1059 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GTTCTTGCTTGAGTCTTGCAC 0.527000 32 52 0 0 1 0 0 MTX1 4580 broad.mit.edu 37 1 155181948 155181948 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:155181948C>T ENST00000368376.3 + 4 815 c.709C>T c.(709-711)Cgg>Tgg p.R237W MTX1_ENST00000316721.4_Intron|MTX1_ENST00000609421.1_Missense_Mutation_p.R88W|RP11-263K19.6_ENST00000455788.1_RNA|MTX1_ENST00000495589.1_3'UTR NM_002455.3 NP_002446.2 Q13505 MTX1_HUMAN metaxin 1 237 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCTGTCAGCTCGGCAAGGGGC 0.577000 7 80 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155784175 155784175 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:155784175C>G ENST00000437809.1 - 9 1349 c.1227G>C c.(1225-1227)ttG>ttC p.L409F GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.L409F|GON4L_ENST00000368331.1_Missense_Mutation_p.L409F|GON4L_ENST00000361040.5_Missense_Mutation_p.L409F NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 409 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AAGACTGCCTCAATCTGGATT 0.393000 24 107 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66209049 66209049 + Missense_Mutation SNP C C T rs149328619 byFrequency TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr14:66209049C>T ENST00000360689.5 + 11 3376 c.1649C>T c.(1648-1650)aCg>aTg p.T550M FUT8_ENST00000557164.1_Missense_Mutation_p.T387M|FUT8_ENST00000394585.1_Missense_Mutation_p.T550M|FUT8_ENST00000358307.2_Missense_Mutation_p.T421M|FUT8_ENST00000394586.2_Missense_Mutation_p.T550M|FUT8_ENST00000417683.1_Missense_Mutation_p.T144M NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 550 SH3. in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TTGGGAAGGACGGGCCTATAT 0.443000 15 79 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73004593 73004593 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:73004593C>G ENST00000268057.4 + 4 206 c.165C>G c.(163-165)atC>atG p.I55M BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.I43M|BBS4_ENST00000395205.2_Missense_Mutation_p.I63M NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 55 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 AGGCTGTTATCAAAGAACAGC 0.418000 Bardet-Biedl syndrome 6 25 0 0 1 0 0 TDRD9 122402 broad.mit.edu 37 14 104488586 104488586 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr14:104488586C>T ENST00000409874.4 + 24 2573 c.2525C>T c.(2524-2526)tCa>tTa p.S842L TDRD9_ENST00000339063.5_Missense_Mutation_p.S842L NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 842 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) CTAAAAGTTTCACTTGAACTC 0.428000 6 16 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119962079 119962079 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:119962079G>C ENST00000543831.1 + 3 430 c.181G>C c.(181-183)Gac>Cac p.D61H HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.D61H NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 61 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) ACTTGAAGGAGACATTCTGGA 0.493000 11 35 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109690177 109690177 + Silent SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:109690177C>G ENST00000277225.5 + 3 4273 c.3984C>G c.(3982-3984)ctC>ctG p.L1328L ZNF462_ENST00000457913.1_Silent_p.L1328L|ZNF462_ENST00000441147.2_Silent_p.L173L Q96JM2 ZN462_HUMAN zinc finger protein 462 1328 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ACGGTTTGCTCCTGCATTACC 0.527000 33 105 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78314035 78314035 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:78314035C>T ENST00000582970.1 + 26 6011 c.5868C>T c.(5866-5868)ctC>ctT p.L1956L RNF213_ENST00000508628.2_Silent_p.L2005L|RNF213_ENST00000336301.6_Silent_p.L29L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGGCACCCCTCGAGGCCATCC 0.632000 11 33 0 0 1 0 0 SPATA9 83890 broad.mit.edu 37 5 95011140 95011140 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:95011140C>T ENST00000274432.8 - 3 495 c.354G>A c.(352-354)ccG>ccA p.P118P RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Silent_p.P118P|SPATA9_ENST00000477047.2_5'UTR NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 118 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) GGGGTTGCCTCGGCGCATTAA 0.408000 20 40 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91805717 91805717 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr14:91805717G>A ENST00000389857.6 - 8 800 c.714C>T c.(712-714)ccC>ccT p.P238P NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 238 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGGTGGGGCTGGGAGTGGAGT 0.662000 4 18 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6678241 6678241 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:6678241C>T ENST00000245907.6 - 40 4864 c.4772G>A c.(4771-4773)aGa>aAa p.R1591K C3_ENST00000599668.1_5'UTR NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1591 NTR. 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) CAGGGCTTCTCTGCACTTGAT 0.587000 16 31 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79734015 79734015 + Nonsense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:79734015C>G ENST00000338008.5 + 3 1691 c.1511C>G c.(1510-1512)tCa>tGa p.S504* ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.S504*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.S504* NM_001284236.1|NM_014733.3 NP_001271165.1|NP_055548 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 504 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) AATACTTTTTCAAGCAATGAT 0.403000 26 53 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77375607 77375607 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr16:77375607C>G ENST00000282849.5 - 11 2122 c.1704G>C c.(1702-1704)ttG>ttC p.L568F NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 568 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTACCATACTCAAGCCACAAA 0.418000 6 17 0 0 1 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2983500 2983500 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr16:2983500G>A ENST00000399667.2 + 5 1529 c.1166G>A c.(1165-1167)aGa>aAa p.R389K FLYWCH1_ENST00000416288.2_Missense_Mutation_p.R388K|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.R389K Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 389 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 CCTCGGCCCAGAAAGCGAGCA 0.657000 5 8 0 0 1 0 0 ADRM1 11047 broad.mit.edu 37 20 60878723 60878723 + Silent SNP G G A rs144780505 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:60878723G>A ENST00000253003.2 + 2 145 c.99G>A c.(97-99)ctG>ctA p.L33L ADRM1_ENST00000462554.1_3'UTR NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 33 Interaction with PSMD1.|PH. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) AGATGTCCCTGAAGGGGACCA 0.597000 40 82 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120844814 120844814 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:120844814C>G ENST00000263713.5 + 11 1085 c.871C>G c.(871-873)Cag>Gag p.Q291E EPB41L5_ENST00000452780.1_Missense_Mutation_p.Q291E|EPB41L5_ENST00000443124.1_Missense_Mutation_p.Q291E|EPB41L5_ENST00000331393.4_Missense_Mutation_p.Q291E|EPB41L5_ENST00000443902.2_Missense_Mutation_p.Q291E NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 291 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 AGATGATGATCAGGTAGGAAT 0.294000 9 50 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79733262 79733262 + Missense_Mutation SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:79733262C>A ENST00000338008.5 + 3 938 c.758C>A c.(757-759)tCc>tAc p.S253Y ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S253Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S253Y NM_001284236.1|NM_014733.3 NP_001271165.1|NP_055548 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 253 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) CGACAAAGTTCCAAAATGTTT 0.343000 26 67 2.27525e-19 2.39017e-19 1 1 0 KDM4C 23081 broad.mit.edu 37 9 7174705 7174705 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:7174705G>A ENST00000381309.3 + 22 3712 c.3147G>A c.(3145-3147)caG>caA p.Q1049Q KDM4C_ENST00000428870.2_Silent_p.Q736Q|KDM4C_ENST00000442236.2_Silent_p.Q794Q NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 1049 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 GCTCTTTCCAGAAGAAGTGCC 0.498000 43 114 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128222209 128222209 + Translation_Start_Site SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:128222209G>T ENST00000368250.1 - 0 130 THEMIS_ENST00000368248.2_De_novo_Start_InFrame|THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000543064.1_De_novo_Start_InFrame Q8N1K5 THMS1_HUMAN thymocyte selection associated negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 ACTACAGCCAGAGTGGGGTGG 0.507000 3 18 0.004672 0.00469911 1 1 0 ZNF613 79898 broad.mit.edu 37 19 52448420 52448420 + Silent SNP T T C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:52448420T>C ENST00000293471.6 + 6 1963 c.1284T>C c.(1282-1284)taT>taC p.Y428Y ZNF613_ENST00000391794.4_Silent_p.Y392Y|ZNF613_ENST00000601794.1_3'UTR NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) AGAAACCCTATGTATGCAATG 0.423000 30 32 0 0 1 0 0 C11orf24 53838 broad.mit.edu 37 11 68029775 68029775 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:68029775G>A ENST00000304271.6 - 4 1090 c.688C>T c.(688-690)Cgt>Tgt p.R230C C11orf24_ENST00000533310.1_Intron NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 230 Pro-rich. integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 GGACTTGGACGAGTGCTCATG 0.587000 20 60 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990293 990293 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:990293C>T ENST00000190165.2 + 2 745 c.707C>T c.(706-708)tCg>tTg p.S236L NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 236 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GAGGGCCCCTCGGGGACTGTT 0.572000 18 46 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44683588 44683588 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:44683588G>A ENST00000396058.1 + 5 1133 c.966G>A c.(964-966)aaG>aaA p.K322K RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.K322K|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron O14709 ZN197_HUMAN zinc finger protein 197 322 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) ATACAGTGAAGAAAGTTTCCC 0.443000 21 43 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39673157 39673157 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:39673157C>T ENST00000254043.3 - 3 4226 c.641G>A c.(640-642)cGa>cAa p.R214Q KRT15_ENST00000393974.3_Missense_Mutation_p.R49Q|KRT15_ENST00000393981.3_Missense_Mutation_p.R49Q|KRT15_ENST00000393976.2_Missense_Mutation_p.R214Q NM_002275.3 NP_002266 P19012 K1C15_HUMAN keratin 15 214 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) ATCCAGGACTCGGCGCAAGCC 0.592000 31 60 0 0 1 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28295307 28295307 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:28295307G>A ENST00000414429.1 - 7 1288 c.385C>T c.(385-387)Cca>Tca p.P129S ZSCAN31_ENST00000439158.1_Missense_Mutation_p.P129S|ZSCAN31_ENST00000446474.1_5'UTR|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.P129S|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.P129S zinc finger and SCAN domain containing 31 TCATGGTCTGGAGCCTGAAGG 0.423000 23 66 0 0 1 0 0 NUPL1 9818 broad.mit.edu 37 13 25876015 25876015 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:25876015C>T ENST00000463407.1 + 1 247 c.104C>T c.(103-105)tCt>tTt p.S35F NUPL1_ENST00000381718.3_Missense_Mutation_p.S35F|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Missense_Mutation_p.S35F Q9BVL2 NUPL1_HUMAN nucleoporin like 1 35 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) ACGGGAGCGTCTAGGTAACCG 0.662000 5 9 0 0 1 0 0 ETV3 2117 broad.mit.edu 37 1 157105486 157105486 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:157105486C>T ENST00000368192.4 - 3 125 c.61G>A c.(61-63)Gac>Aac p.D21N ETV3_ENST00000326786.4_Missense_Mutation_p.D21N|ETV3_ENST00000460850.1_5'UTR NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 21 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) TAGGCCCAGTCAGGAAACTGA 0.507000 26 79 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52692314 52692314 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:52692314C>G ENST00000356770.4 - 5 548 c.546G>C c.(544-546)ttG>ttC p.L182F PBRM1_ENST00000296302.7_Missense_Mutation_p.L182F|PBRM1_ENST00000409767.1_Missense_Mutation_p.L182F|PBRM1_ENST00000410007.1_Missense_Mutation_p.L182F|PBRM1_ENST00000409114.3_Missense_Mutation_p.L182F|PBRM1_ENST00000394830.3_Missense_Mutation_p.L182F|PBRM1_ENST00000337303.4_Missense_Mutation_p.L182F|PBRM1_ENST00000409057.1_Missense_Mutation_p.L182F Q86U86 PB1_HUMAN polybromo 1 182 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GGATCTCCTTCAAGTAAGCTG 0.373000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 4 51 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20044424 20044424 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:20044424G>C ENST00000343769.5 + 4 688 c.660G>C c.(658-660)aaG>aaC p.K220N AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 220 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 ATACACATAAGAGAATTCATA 0.368000 11 31 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54545036 54545036 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:54545036G>A ENST00000338372.2 - 8 763 c.588C>T c.(586-588)ctC>ctT p.L196L VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Silent_p.L108L|VSTM1_ENST00000376626.1_Silent_p.L165L NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 196 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) GACTCACCGAGAGAGATACCC 0.463000 7 10 0 0 1 0 0 ETV2 2116 broad.mit.edu 37 19 36135582 36135582 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:36135582G>C ENST00000379026.2 + 6 1380 c.941G>C c.(940-942)aGa>aCa p.R314T ETV2_ENST00000479824.1_Missense_Mutation_p.R193T|ETV2_ENST00000403402.1_Missense_Mutation_p.R286T|ETV2_ENST00000379023.4_Missense_Mutation_p.R99T|ETV2_ENST00000402764.2_Missense_Mutation_p.R286T B9EIN1 B9EIN1_HUMAN ets variant 2 286 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2) 2 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGCGCAAGAGAAAGCCGGGC 0.672000 4 18 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7878391 7878391 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:7878391C>T ENST00000264668.2 + 5 847 c.817C>T c.(817-819)Ccc>Tcc p.P273S MTRR_ENST00000440940.2_Missense_Mutation_p.P246S|MTRR_ENST00000341013.6_3'UTR NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 273 Hinge. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TCCTGGTTTACCCCCAGAATA 0.423000 41 242 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91487639 91487639 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:91487639G>C ENST00000416354.1 + 17 2329 c.2257G>C c.(2257-2259)Gag>Cag p.E753Q KIF20B_ENST00000394289.2_Missense_Mutation_p.E753Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.E713Q|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.E753Q Q96Q89 KI20B_HUMAN kinesin family member 20B 753 E -> K (in Ref. 1; BAB69456). cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TCAAGAGCTTGAGACATCTAA 0.244000 4 21 0 0 1 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94343201 94343201 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:94343201G>A ENST00000436063.2 - 2 347 c.290C>T c.(289-291)tCt>tTt p.S97F DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) ATGGTGCTCAGACACAGAATA 0.458000 11 42 0 0 1 0 0 CHUK 1147 broad.mit.edu 37 10 101981902 101981902 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:101981902C>G ENST00000370397.7 - 4 438 c.352G>C c.(352-354)Gaa>Caa p.E118Q NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 118 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) ATCTGGCTTTCTTTAAGTCCA 0.348000 4 24 0 0 1 0 0 DHDH 27294 broad.mit.edu 37 19 49445720 49445720 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:49445720C>T ENST00000221403.2 + 5 683 c.643C>T c.(643-645)Ctc>Ttc p.L215F DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Missense_Mutation_p.L76F NM_014475.3 NP_055290.1 Q9UQ10 DHDH_HUMAN dihydrodiol dehydrogenase (dimeric) 215 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1) 9 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;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) TGTCACGGTGCTCCTGCAGTA 0.622000 6 21 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155340407 155340407 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:155340407C>T ENST00000368346.3 - 12 7228 c.6589G>A c.(6589-6591)Gac>Aac p.D2197N ASH1L_ENST00000392403.3_Missense_Mutation_p.D2192N Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2197 SET. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CAGTAGTGGTCACTGTGATTA 0.408000 21 95 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029210 32029210 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:32029210G>A ENST00000375244.3 - 21 7657 c.7456C>T c.(7456-7458)Cgg>Tgg p.R2486W TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W P22105 TENX_HUMAN tenascin XB 2546 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCCACGCGCCGCCCCTCGTGG 0.647000 37 84 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101476575 101476575 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:101476575G>A ENST00000341893.3 + 9 1877 c.1125G>A c.(1123-1125)acG>acA p.T375T CEP97_ENST00000327230.4_Silent_p.T375T|CEP97_ENST00000494050.1_Intron Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 375 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TACACACTACGAGATATTCTC 0.398000 21 62 0 0 1 0 0 TEFM 79736 broad.mit.edu 37 17 29226414 29226414 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:29226414C>T ENST00000581216.1 - 4 1477 c.856G>A c.(856-858)Gaa>Aaa p.E286K TEFM_ENST00000580840.1_3'UTR NM_024683.3 NP_078959.3 Q96QE5 TEFM_HUMAN transcription elongation factor, mitochondrial 286 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding ATCATCAGTTCAAAATGCTTC 0.468000 34 69 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31599733 31599733 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:31599733G>A ENST00000376033.2 + 16 3517 c.3283G>A c.(3283-3285)Gag>Aag p.E1095K PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1095K NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1095 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TTCAGAGTATGAGGAAATCCC 0.637000 5 25 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234429685 234429685 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:234429685C>G ENST00000251722.6 - 17 2391 c.2274G>C c.(2272-2274)caG>caC p.Q758H USP40_ENST00000427112.2_Missense_Mutation_p.Q758H|USP40_ENST00000450966.1_Missense_Mutation_p.Q770H Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 758 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CAGATTCTAACTGGCATAAAT 0.343000 9 27 0 0 1 0 0 NUDT6 11162 broad.mit.edu 37 4 123814162 123814162 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:123814162C>T ENST00000304430.5 - 5 805 c.772G>A c.(772-774)Gaa>Aaa p.E258K NUDT6_ENST00000502270.1_Missense_Mutation_p.E89K|NUDT6_ENST00000339154.2_Missense_Mutation_p.E89K|FGF2_ENST00000264498.3_3'UTR|FGF2_ENST00000608478.1_3'UTR NM_007083.4 NP_009014.2 P53370 NUDT6_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 6 258 Nudix hydrolase. KTEN -> RTKH (in Ref. 4; AAA67062). mitochondrion|nucleus growth factor activity|hydrolase activity endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 GTTGTATTTTCAGTCTTCGCC 0.448000 8 69 0 0 1 0 0 LBH 81606 broad.mit.edu 37 2 30457350 30457350 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:30457350C>T ENST00000395323.3 + 2 314 c.106C>T c.(106-108)Cgc>Tgc p.R36C LBH_ENST00000467242.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.R42C|LBH_ENST00000406087.1_Missense_Mutation_p.R36C|LBH_ENST00000407930.2_Missense_Mutation_p.R19C|LBH_ENST00000404397.1_Missense_Mutation_p.R36C NM_030915.3 NP_112177.2 Q53QV2 LBH_HUMAN limb bud and heart development 36 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) CCTCAGCCCCCGCAAGGATGG 0.562000 16 52 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30064302 30064302 + Nonsense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:30064302G>A ENST00000346128.6 - 4 751 c.277C>T c.(277-279)Cag>Tag p.Q93* TJP1_ENST00000356107.6_Nonsense_Mutation_p.Q93*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.Q97*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.Q93*|TJP1_ENST00000495972.2_Nonsense_Mutation_p.Q93* NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 93 PDZ 1. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CTTAGTTGCTGAACAGCAAAA 0.348000 12 29 0 0 1 0 0 STMN3 50861 broad.mit.edu 37 20 62273466 62273466 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:62273466C>G ENST00000370053.1 - 4 559 c.478G>C c.(478-480)Gag>Cag p.E160Q STMN3_ENST00000540534.1_Missense_Mutation_p.E149Q NM_001276310.1|NM_015894.2 NP_001263239.1|NP_056978.2 Q9NZ72 STMN3_HUMAN stathmin-like 3 160 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding p.E160K(1) kidney(1)|large_intestine(1)|lung(5)|prostate(1) 8 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) CGCACCTTCTCGCGCAGCCGC 0.756000 3 15 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55368464 55368464 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr18:55368464C>T ENST00000536015.1 - 5 594 c.475G>A c.(475-477)Gac>Aac p.D159N RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.D159N|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_5'UTR NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 159 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TCCACCAGGTCTTTGATTGCA 0.463000 14 27 0 0 1 0 0 DUSP8 1850 broad.mit.edu 37 11 1586886 1586886 + Silent SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:1586886C>G ENST00000397374.3 - 2 298 c.171G>C c.(169-171)cgG>cgC p.R57R DUSP8_ENST00000331588.4_Silent_p.R57R NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 57 Rhodanese. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) GCTGCAGCCGCCGCTTCACCA 0.647000 18 42 0 0 1 0 0 HIST1H2AD 3013 broad.mit.edu 37 6 26199400 26199400 + Silent SNP G G C rs150465023 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:26199400G>C ENST00000341023.1 - 1 71 c.72C>G c.(70-72)ctC>ctG p.L24L HIST1H3D_ENST00000377831.5_5'UTR NM_021065.2 NP_066409.1 P20671 H2A1D_HUMAN histone cluster 1, H2ad 24 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 all_hematologic(11;0.196) CAGGGAACTGGAGTCCGGCCC 0.612000 17 31 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236908074 236908074 + Silent SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:236908074C>G ENST00000366578.4 + 12 1570 c.1404C>G c.(1402-1404)ctC>ctG p.L468L ACTN2_ENST00000542672.1_Silent_p.L468L|ACTN2_ENST00000546208.1_5'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 468 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) CGCAGGAGCTCAAGTATGTGC 0.647000 12 48 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49397643 49397643 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:49397643C>T ENST00000418115.1 - 5 965 c.581G>A c.(580-582)tGa>tAa p.*194* RHOA_ENST00000422781.1_3'UTR|RHOA_ENST00000454011.2_3'UTR NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 0 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) AGCAAGGTTTCACAAGACAAG 0.403000 36 92 0 0 1 0 0 OR4D1 26689 broad.mit.edu 37 17 56233150 56233150 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:56233150C>T ENST00000268912.5 + 1 657 c.636C>T c.(634-636)ctC>ctT p.L212L NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 212 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 TCTGGTTCCTCCTCCTTCTGA 0.532000 24 53 0 0 1 0 0 PHKG2 5261 broad.mit.edu 37 16 30767535 30767535 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr16:30767535G>C ENST00000563588.1 + 7 828 c.589G>C c.(589-591)Gag>Cag p.E197Q PHKG2_ENST00000328273.7_Missense_Mutation_p.E197Q|PHKG2_ENST00000424889.3_Missense_Mutation_p.E197Q NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 197 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) TCTAGCGCCAGAGATCCTTAA 0.587000 36 115 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577511 7577511 + Missense_Mutation SNP A A T rs28934577 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:7577511A>T ENST00000420246.2 - 7 902 c.770T>A c.(769-771)cTg>cAg p.L257Q TP53_ENST00000445888.2_Missense_Mutation_p.L257Q|TP53_ENST00000413465.2_Missense_Mutation_p.L257Q|TP53_ENST00000269305.4_Missense_Mutation_p.L257Q|TP53_ENST00000455263.2_Missense_Mutation_p.L257Q|TP53_ENST00000359597.4_Missense_Mutation_p.L257Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 257 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). L -> P (in sporadic cancers; somatic mutation).|L -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934577).|L -> R (in sporadic cancers; somatic mutation).|L -> 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.0?(8)|p.L257Q(8)|p.L257P(8)|p.L257fs*6(2)|p.?(1)|p.T256fs*87(1)|p.L257R(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) GGAGTCTTCCAGTGTGATGAT 0.582000 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) 7 26 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5905783 5905783 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:5905783C>G ENST00000316987.2 + 1 283 c.261C>G c.(259-261)ttC>ttG p.F87L NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGGAATCTTCTGGTTCAACC 0.458000 40 106 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37371053 37371053 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:37371053C>T ENST00000231498.3 - 1 230 c.27G>A c.(25-27)gcG>gcA p.A9A NUP155_ENST00000513532.1_Silent_p.A9A NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 9 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGGCCGGCATCGCCGCGCCCA 0.537000 17 80 0 0 1 0 0 CDKN1B 1027 broad.mit.edu 37 12 12871794 12871794 + Nonsense_Mutation SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:12871794G>T ENST00000228872.4 + 2 1227 c.511G>T c.(511-513)Gaa>Taa p.E171* CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000396340.1_Intron NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 171 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) CAACAGAACAGAAGAAAATGT 0.443000 54 47 8.28887e-21 8.74282e-21 1 1 0 BRDT 676 broad.mit.edu 37 1 92459724 92459724 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:92459724C>T ENST00000370389.2 + 15 2905 c.1981C>T c.(1981-1983)Cac>Tac p.H661Y BRDT_ENST00000399546.2_Missense_Mutation_p.H734Y|BRDT_ENST00000402388.1_Missense_Mutation_p.H734Y|BRDT_ENST00000362005.3_Missense_Mutation_p.H734Y|BRDT_ENST00000394530.3_Missense_Mutation_p.H688Y NM_001242810.1 NP_001229739 Q58F21 BRDT_HUMAN bromodomain, testis-specific 734 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GCCACCAAATCACCACCAATT 0.363000 18 83 0 0 1 0 0 TAF4B 6875 broad.mit.edu 37 18 23915183 23915183 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr18:23915183G>A ENST00000269142.5 + 13 3302 c.2304G>A c.(2302-2304)caG>caA p.Q768Q TAF4B_ENST00000578121.1_Silent_p.Q773Q NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 768 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) GATTAAAGCAGAAAGCCAAAG 0.383000 8 23 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43850441 43850441 + Silent SNP T T C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:43850441T>C ENST00000372769.3 + 2 258 c.168T>C c.(166-168)caT>caC p.H56H NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 56 sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) ACCAACAACATACTAAATCCA 0.403000 25 82 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247920938 247920938 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:247920938G>A ENST00000408896.2 - 1 1044 c.771C>T c.(769-771)gcC>gcT p.A257A NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGAAATAGACGGCGATGGCTG 0.512000 25 53 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504079 70504079 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:70504079C>T ENST00000310961.5 + 22 2891 c.2473C>T c.(2473-2475)Ccc>Tcc p.P825S LRRC7_ENST00000415775.2_Missense_Mutation_p.P104S|LRRC7_ENST00000035383.5_Missense_Mutation_p.P820S Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 820 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TGTTGGTGTTCCCCTGGAACT 0.493000 29 59 0 0 1 0 0 NIPA1 123606 broad.mit.edu 37 15 23049167 23049167 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:23049167G>A ENST00000437912.2 - 5 1724 c.427C>T c.(427-429)Cat>Tat p.H143Y NIPA1_ENST00000538684.1_Missense_Mutation_p.H48Y|NIPA1_ENST00000337435.4_Missense_Mutation_p.H218Y|NIPA1_ENST00000561183.1_Missense_Mutation_p.H143Y Q7RTP0 NIPA1_HUMAN non imprinted in Prader-Willi/Angelman syndrome 1 218 cell death early endosome|integral to membrane|plasma membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) GGGTTGTTATGCAAGATGTCT 0.587000 18 43 0 0 1 0 0 ALG1L 200810 broad.mit.edu 37 3 125649405 125649405 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:125649405G>C ENST00000340333.3 - 5 506 c.343C>G c.(343-345)Ctg>Gtg p.L115V NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 115 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 GCTACCTGCAGAGCTGCCAGT 0.582000 17 33 0 0 1 0 0 LIG4 3981 broad.mit.edu 37 13 108861843 108861843 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:108861843C>T ENST00000356922.4 - 2 2046 c.1774G>A c.(1774-1776)Gag>Aag p.E592K LIG4_ENST00000405925.1_Missense_Mutation_p.E592K|LIG4_ENST00000442234.1_Missense_Mutation_p.E592K NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 592 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) GTCATGCACTCATGCCACTCC 0.448000 Non-homologous end-joining 21 49 0 0 1 0 0 CSNK1D 1453 broad.mit.edu 37 17 80223668 80223668 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:80223668C>T ENST00000314028.6 - 2 430 c.81G>A c.(79-81)acG>acA p.T27T CSNK1D_ENST00000392334.2_Silent_p.T27T|CSNK1D_ENST00000398519.5_Silent_p.T27T NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta 27 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) CAGCAATGTCCGTACCTTGGC 0.438000 37 76 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6966276 6966276 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr18:6966276G>A ENST00000389658.3 - 49 7013 c.6920C>T c.(6919-6921)tCc>tTc p.S2307F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2307 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAATGGAAGGAAGGGTCTTC 0.448000 9 20 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178528629 178528629 + Nonsense_Mutation SNP C C A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:178528629C>A ENST00000286063.6 - 19 2928 c.2611G>T c.(2611-2613)Gag>Tag p.E871* PDE11A_ENST00000389683.3_Nonsense_Mutation_p.E427*|PDE11A_ENST00000450799.2_Nonsense_Mutation_p.E62*|PDE11A_ENST00000358450.4_Nonsense_Mutation_p.E621*|PDE11A_ENST00000449286.2_Nonsense_Mutation_p.E513*|PDE11A_ENST00000409504.1_Nonsense_Mutation_p.E513* NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TCAATCCACTCCAGTTGCAAC 0.438000 Primary Pigmented Nodular Adrenocortical Disease, Familial 13 51 7.93312e-07 8.13653e-07 1 1 0 PTPN22 26191 broad.mit.edu 37 1 114380755 114380755 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:114380755C>T ENST00000359785.5 - 13 1402 c.1267G>A c.(1267-1269)Gag>Aag p.E423K PTPN22_ENST00000525799.1_Missense_Mutation_p.E296K|PTPN22_ENST00000528414.1_Missense_Mutation_p.E368K|PTPN22_ENST00000420377.2_Missense_Mutation_p.E423K|PTPN22_ENST00000538253.1_Missense_Mutation_p.E179K|PTPN22_ENST00000460620.1_Intron NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 423 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAACATCCCTCAAACAAAAGA 0.388000 19 51 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183853908 183853908 + Nonsense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:183853908C>T ENST00000304685.4 + 8 1341 c.892C>T c.(892-894)Cga>Tga p.R298* RGL1_ENST00000360851.3_Nonsense_Mutation_p.R263*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.R263*|RGL1_ENST00000536277.1_Nonsense_Mutation_p.R261* NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 CATTTGGTCTCGAAGGGATAA 0.458000 22 68 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178545621 178545621 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:178545621C>G ENST00000286063.6 - 16 2673 c.2356G>C c.(2356-2358)Gaa>Caa p.E786Q PDE11A_ENST00000389683.3_Missense_Mutation_p.E342Q|PDE11A_ENST00000358450.4_Missense_Mutation_p.E536Q|PDE11A_ENST00000449286.2_Missense_Mutation_p.E428Q|PDE11A_ENST00000409504.1_Missense_Mutation_p.E428Q NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TCAAAGAATTCAGTTCTCCTC 0.353000 Primary Pigmented Nodular Adrenocortical Disease, Familial 4 23 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108496500 108496500 + Missense_Mutation SNP T T A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:108496500T>A ENST00000408999.3 + 21 5078 c.5001T>A c.(4999-5001)gaT>gaA p.D1667E RGPD4_ENST00000354986.4_Missense_Mutation_p.D1667E NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1667 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AAAGTGCAGATCACTTAAACG 0.453000 35 123 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37513430 37513430 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:37513430C>G ENST00000379066.1 - 6 1562 c.800G>C c.(799-801)aGa>aCa p.R267T PRKD3_ENST00000234179.2_Missense_Mutation_p.R267T O94806 KPCD3_HUMAN protein kinase D3 267 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) AACTTTCACTCTGCACATTAC 0.448000 18 47 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238743 48238743 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:48238743C>G ENST00000309562.2 + 1 400 c.382C>G c.(382-384)Ctt>Gtt p.L128V NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TTGCAAGCCTCTTCATTATAT 0.453000 41 87 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71571273 71571273 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:71571273C>T ENST00000395275.2 - 4 639 c.251G>A c.(250-252)cGa>cAa p.R84Q CALN1_ENST00000395276.2_Missense_Mutation_p.R42Q|CALN1_ENST00000329008.5_Missense_Mutation_p.R42Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R42Q|CALN1_ENST00000405452.2_Missense_Mutation_p.R42Q|CALN1_ENST00000412588.1_Missense_Mutation_p.R84Q NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 42 EF-hand 2. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) AAAGGCCTCTCGGATTTCTAC 0.527000 17 29 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203693083 203693083 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:203693083C>T ENST00000357681.5 + 19 4222 c.3099C>T c.(3097-3099)ctC>ctT p.L1033L ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367218.3_Silent_p.L1033L|ATP2B4_ENST00000341360.2_Silent_p.L1033L|ATP2B4_ENST00000367219.3_Silent_p.L1021L NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 1033 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TGTGGTGTCTCTTCATTGGGA 0.532000 24 100 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2861064 2861064 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:2861064C>G ENST00000254695.8 + 4 267 c.177C>G c.(175-177)ttC>ttG p.F59L RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.F59L|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.F40L|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.F59L NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 59 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CGTCGGAGTTCTTTGAGATGC 0.567000 26 57 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98382950 98382950 + Missense_Mutation SNP T T C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:98382950T>C ENST00000186436.5 - 34 4792 c.4564A>G c.(4564-4566)Aaa>Gaa p.K1522E NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1522 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 CCTTTTGTTTTCTGGGCATTT 0.393000 15 46 0 0 1 0 0 FAM173B 134145 broad.mit.edu 37 5 10235356 10235356 + Nonsense_Mutation SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:10235356G>T ENST00000511437.1 - 4 474 c.462C>A c.(460-462)taC>taA p.Y154* FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Intron NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 154 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 CAACGTTCGAGTACTGCGAAA 0.428000 6 42 0.000157383 0.000159531 1 1 0 CNPPD1 27013 broad.mit.edu 37 2 220039607 220039607 + Missense_Mutation SNP A A G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:220039607A>G ENST00000409789.1 - 6 830 c.403T>C c.(403-405)Tat>Cat p.Y135H CNPPD1_ENST00000360507.5_Missense_Mutation_p.Y135H Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 135 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 CCTTCATCATAGAGGTACTTA 0.582000 19 42 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190134 209190134 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:209190134C>G ENST00000264380.4 + 20 2757 c.2599C>G c.(2599-2601)Caa>Gaa p.Q867E NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 867 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TTATCATTCTCAACTAGAAAT 0.433000 19 64 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61513083 61513083 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:61513083C>T ENST00000266070.4 - 16 4550 c.4225G>A c.(4225-4227)Gag>Aag p.E1409K DIDO1_ENST00000395343.1_Missense_Mutation_p.E1409K NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1409 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.E1409*(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTTCCACCTCGTGGCGCCGC 0.602000 44 72 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23713758 23713758 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr16:23713758C>G ENST00000256797.4 - 10 1346 c.1178G>C c.(1177-1179)aGa>aCa p.R393T ERN2_ENST00000457008.2_Missense_Mutation_p.R345T NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 345 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TGAGGGGTATCTAACAGCAGT 0.582000 52 124 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71189911 71189911 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:71189911G>A ENST00000234396.4 + 9 863 c.790G>A c.(790-792)Gag>Aag p.E264K ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E264K|AC007040.11_ENST00000606025.1_Intron NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 264 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 CTCCAGGATCGAGCGGATCAT 0.582000 10 59 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82789485 82789485 + Missense_Mutation SNP A A G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:82789485A>G ENST00000265077.3 + 4 1131 c.566A>G c.(565-567)tAt>tGt p.Y189C VCAN_ENST00000512590.2_Missense_Mutation_p.Y141C|VCAN_ENST00000342785.4_Missense_Mutation_p.Y189C|VCAN_ENST00000343200.5_Missense_Mutation_p.Y189C|VCAN_ENST00000502527.2_Missense_Mutation_p.Y189C|VCAN_ENST00000513984.1_Missense_Mutation_p.Y189C NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 189 Link 1. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTTGCTGCCTATGAAGATGGA 0.522000 30 79 0 0 1 0 0 SLC11A2 4891 broad.mit.edu 37 12 51389481 51389481 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:51389481G>C ENST00000394904.3 - 10 1057 c.1008C>G c.(1006-1008)tcC>tcG p.S336S SLC11A2_ENST00000262052.5_Silent_p.S307S|SLC11A2_ENST00000547198.1_Silent_p.S307S|SLC11A2_ENST00000262051.7_Silent_p.S307S|SLC11A2_ENST00000541174.2_Silent_p.S307S|SLC11A2_ENST00000546743.1_Silent_p.S228S|SLC11A2_ENST00000547688.1_Silent_p.S336S|SLC11A2_ENST00000545993.2_Silent_p.S303S NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 307 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 TGATGATGAAGGAAACAAAGA 0.413000 22 29 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103900787 103900787 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:103900787C>T ENST00000278070.2 + 5 2561 c.2522C>T c.(2521-2523)tCa>tTa p.S841L PPRC1_ENST00000413464.2_Missense_Mutation_p.S841L NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 841 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CCTGTGGCCTCATCTCCCACT 0.597000 33 49 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119965133 119965133 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:119965133C>G ENST00000543831.1 + 4 1258 c.1009C>G c.(1009-1011)Ctg>Gtg p.L337V HSD3B2_ENST00000369416.3_Missense_Mutation_p.L337V NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 337 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) TCAGCGAGATCTGGCGTATAA 0.512000 14 47 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31024321 31024321 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:31024321C>T ENST00000375687.4 + 13 4230 c.3806C>T c.(3805-3807)tCg>tTg p.S1269L ASXL1_ENST00000306058.5_Missense_Mutation_p.S1264L NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1269 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.L1266fs*9(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTTACTACCTCGAGAACACCT 0.493000 """F, N, Mis""" """MDS, CMML""" 19 60 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27419547 27419547 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:27419547C>T ENST00000211936.6 - 6 2075 c.1791G>A c.(1789-1791)caG>caA p.Q597Q ZNF184_ENST00000377419.1_Silent_p.Q597Q NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 GGTGTATGTTCTGGTTGAATG 0.433000 29 69 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18160153 18160153 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:18160153G>C ENST00000388870.2 + 3 268 c.27G>C c.(25-27)aaG>aaC p.K9N KDM1B_ENST00000397244.1_Missense_Mutation_p.K9N|KDM1B_ENST00000297792.5_Missense_Mutation_p.K9N|KDM1B_ENST00000546309.2_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 9 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 GGAGGACAAAGAAAAAAGCAT 0.378000 6 22 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113098284 113098284 + Nonsense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr3:113098284G>A ENST00000393845.2 - 17 2233 c.2167C>T c.(2167-2169)Cag>Tag p.Q723* WDR52_ENST00000295868.2_Nonsense_Mutation_p.Q723* NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 723 Glu-rich. breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 tcctcctcctGAAATTCTTTT 0.453000 29 72 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186313156 186313156 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:186313156G>C ENST00000367478.4 - 26 3780 c.3484C>G c.(3484-3486)Cag>Gag p.Q1162E NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTTTCGATCTGATCATGAAGT 0.393000 T NTRK1 papillary thyroid 10 48 0 0 1 0 0 GTF2I 2969 broad.mit.edu 37 7 74119540 74119540 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:74119540C>G ENST00000324896.4 + 7 1020 c.631C>G c.(631-633)Cca>Gca p.P211A GTF2I_ENST00000443166.1_Missense_Mutation_p.P211A|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.P211A|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.P211A|GTF2I_ENST00000346152.4_Missense_Mutation_p.P211A NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 211 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 AATACTATCTCCAGGTGGAAG 0.318000 9 46 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226566910 226566910 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:226566910C>G ENST00000366794.5 - 12 1821 c.1678G>C c.(1678-1680)Gtg>Ctg p.V560L NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 560 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) ACGATGTCCACCAGGCCAAGG 0.527000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 59 109 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903125 5903125 + Missense_Mutation SNP T T C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:5903125T>C ENST00000378961.4 + 4 539 c.335T>C c.(334-336)aTc>aCc p.I112T NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 112 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGGAGGACATCCAAGGCCCA 0.602000 12 28 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140650 50140650 + Splice_Site SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:50140650C>T ENST00000371564.3 - 2 350 c.e2-1 NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Splice_Site|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Splice_Site|NFATC2_ENST00000396009.3_Splice_Site 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 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) TTCGGCTCTTCTGGAAAGAGA 0.537000 13 32 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45905461 45905461 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr20:45905461G>C ENST00000311275.7 - 11 1270 c.1017C>G c.(1015-1017)ttC>ttG p.F339L ZMYND8_ENST00000446994.2_Missense_Mutation_p.F276L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F359L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F339L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F334L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F334L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F334L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F339L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F334L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F339L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F359L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F366L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F359L 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 8 339 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) TGGCACTGTTGAAGATGCTCT 0.413000 19 116 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210558518 210558518 + Missense_Mutation SNP G G T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:210558518G>T ENST00000360351.4 + 7 2130 c.1624G>T c.(1624-1626)Gat>Tat p.D542Y MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D538Y NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 542 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AATGAGAGTTGATGACAAAGA 0.383000 28 64 2.12542e-12 2.21931e-12 1 1 0 CYHR1 50626 broad.mit.edu 37 8 145689921 145689921 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr8:145689921G>A ENST00000438911.2 - 2 301 c.168C>T c.(166-168)agC>agT p.S56S CYHR1_ENST00000403000.2_Silent_p.S56S|CYHR1_ENST00000424149.2_Silent_p.S56S|CYHR1_ENST00000306145.5_Silent_p.S56S|CTD-2517M22.16_ENST00000525461.1_RNA NM_138496.1 NP_612505.1 Q6ZMK1 CYHR1_HUMAN cysteine/histidine-rich 1 56 perinuclear region of cytoplasm zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2) 7 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CTTCGTGTGTGCTCAGCCCTG 0.637000 20 65 0 0 1 0 0 UIMC1 51720 broad.mit.edu 37 5 176396246 176396246 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:176396246G>C ENST00000377219.2 - 6 676 c.510C>G c.(508-510)atC>atG p.I170M UIMC1_ENST00000506128.1_Missense_Mutation_p.I170M|UIMC1_ENST00000511320.1_Missense_Mutation_p.I170M|UIMC1_ENST00000377227.4_Missense_Mutation_p.I170M NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 170 Necessary for interaction with NR6A1 N- terminus. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCCCTGACTGATATGTGAGC 0.483000 9 107 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142409491 142409491 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:142409491G>C ENST00000258042.1 - 1 445 c.305C>G c.(304-306)tCg>tGg p.S102W RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 102 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity p.S102W(1)|p.S102L(1) breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) GAAGTAGCGCGAGGCGTCCAC 0.592000 15 23 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785612 1785612 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:1785612G>A ENST00000539485.1 - 26 3512 c.3279C>T c.(3277-3279)atC>atT p.I1093I ATP8B3_ENST00000310127.6_Silent_p.I1083I|ATP8B3_ENST00000525591.1_Silent_p.I1046I O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1083 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACCATGGGCGATGGCTTGGA 0.607000 6 10 0 0 1 0 0 THG1L 54974 broad.mit.edu 37 5 157161651 157161651 + Missense_Mutation SNP G G A rs78234336 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:157161651G>A ENST00000231198.7 + 3 680 c.436G>A c.(436-438)Gag>Aag p.E146K AC026407.1_ENST00000599823.1_Silent_p.L25L NM_017872.3 NP_060342.2 Q9NWX6 THG1_HUMAN tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) 146 protein homotetramerization|tRNA modification mitochondrion GTP binding|metal ion binding|tRNA guanylyltransferase activity NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1) 13 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGATTACTTTGAGGACCAGCC 0.502000 25 87 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234102561 234102561 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:234102561G>C ENST00000359570.5 + 25 2514 c.2514G>C c.(2512-2514)gaG>gaC p.E838D INPP5D_ENST00000455936.2_Missense_Mutation_p.E602D|INPP5D_ENST00000450745.1_Missense_Mutation_p.E602D Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 850 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TCCAGGGGGAGATCAAGCTGC 0.617000 15 50 0 0 1 0 0 SLC28A3 64078 broad.mit.edu 37 9 86917179 86917179 + Nonsense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:86917179G>A ENST00000376238.4 - 5 509 c.460C>T c.(460-462)Cga>Tga p.R154* SLC28A3_ENST00000537648.1_Nonsense_Mutation_p.R85* NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 154 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding p.R154*(1) endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TCATCAATTCGATGTTCGTAT 0.453000 21 45 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203191375 203191375 + Silent SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:203191375G>C ENST00000367229.1 - 7 718 c.684C>G c.(682-684)ctC>ctG p.L228L CHIT1_ENST00000535569.1_Silent_p.L219L|CHIT1_ENST00000255427.3_Silent_p.L209L|CHIT1_ENST00000484834.1_5'UTR NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 228 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GCCTCTTGTAGAGGGGGCTGT 0.577000 19 54 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239744 3239744 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chrX:3239744C>T ENST00000217939.6 - 5 4136 c.3982G>A c.(3982-3984)Gat>Aat p.D1328N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1328 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCAACATCATCCTTAATTTCT 0.373000 39 34 0 0 1 0 0 B3GAT2 135152 broad.mit.edu 37 6 71665851 71665851 + Missense_Mutation SNP C C G rs9446312 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:71665851C>G ENST00000230053.6 - 1 890 c.282G>C c.(280-282)caG>caC p.Q94H NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) 94 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GCTCCGCTTTCTGCACCGGGC 0.697000 18 32 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 34985672 34985672 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:34985672G>A ENST00000360359.3 + 11 1984 c.1846G>A c.(1846-1848)Gaa>Aaa p.E616K ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 616 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 ACCCAAAGCTGAACTCAAACT 0.582000 44 124 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49048212 49048212 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:49048212G>A ENST00000380950.2 - 20 3420 c.3233C>T c.(3232-3234)tCt>tTt p.S1078F CEP152_ENST00000399334.3_Missense_Mutation_p.S1078F|CEP152_ENST00000325747.5_Missense_Mutation_p.S985F NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1078 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CCATTTTGAAGAACAAGTCGA 0.408000 41 99 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102825985 102825985 + RNA SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr7:102825985C>T ENST00000312132.4 - 0 3713 AAGACAGCATCTGAAAAAAAA 0.353000 8 12 0 0 1 0 0 KCNIP2 30819 broad.mit.edu 37 10 103587660 103587660 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:103587660C>G ENST00000358038.3 - 7 985 c.634G>C c.(634-636)Gag>Cag p.E212Q KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000370046.1_Missense_Mutation_p.E144Q|KCNIP2_ENST00000343195.4_Missense_Mutation_p.E180Q|KCNIP2_ENST00000356640.2_Missense_Mutation_p.E230Q|KCNIP2_ENST00000461105.1_Missense_Mutation_p.E245Q|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000353068.3_Missense_Mutation_p.E187Q|KCNIP2_ENST00000348850.5_Missense_Mutation_p.E185Q NM_173192.2|NM_173193.2|NM_173195.2 NP_775284.1|NP_775285.1|NP_775287.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 230 clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) AAGAAGCTCTCCACGTGTTCC 0.557000 15 58 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233274450 233274450 + Silent SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:233274450C>G ENST00000295453.3 + 11 1519 c.1467C>G c.(1465-1467)ccC>ccG p.P489P NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 489 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GCCTGGAGCCCTACACCGCCT 0.741000 5 9 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61622361 61622361 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:61622361G>A ENST00000398571.2 - 4 636 c.560C>T c.(559-561)tCa>tTa p.S187L NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 187 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TTCTTGAGTTGATATATCCTA 0.234000 13 21 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17889421 17889421 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr19:17889421C>T ENST00000594202.1 + 20 1634 c.1355C>T c.(1354-1356)tCt>tTt p.S452F FCHO1_ENST00000595033.1_Missense_Mutation_p.S402F|FCHO1_ENST00000252771.7_Missense_Mutation_p.S452F|FCHO1_ENST00000600676.1_Missense_Mutation_p.S452F|FCHO1_ENST00000389133.4_Missense_Mutation_p.S452F|FCHO1_ENST00000596951.1_Missense_Mutation_p.S452F|FCHO1_ENST00000597512.1_Missense_Mutation_p.S459F|FCHO1_ENST00000596536.1_Missense_Mutation_p.S452F|FCHO1_ENST00000539407.1_Missense_Mutation_p.S452F NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 452 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CCCCAAGGCTCTAGCAGCCTG 0.682000 3 2 0 0 1 0 0 KLF4 9314 broad.mit.edu 37 9 110250458 110250458 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:110250458C>T ENST00000374672.4 - 3 690 c.217G>A c.(217-219)Gac>Aac p.D73N NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 73 fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 CTCTCCAGGTCTGTGGCCACG 0.697000 5 20 0 0 1 0 0 STK24 8428 broad.mit.edu 37 13 99114081 99114081 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:99114081G>A ENST00000397517.2 - 8 1076 c.1000C>T c.(1000-1002)Ccc>Tcc p.P334S STK24_ENST00000539966.1_Missense_Mutation_p.P315S|STK24_ENST00000376547.3_Missense_Mutation_p.P346S NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 346 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AGATTCTTGGGATCTTTTTCT 0.507000 33 74 0 0 1 0 0 ZMPSTE24 10269 broad.mit.edu 37 1 40737653 40737653 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:40737653G>A ENST00000372759.3 + 6 880 c.715G>A c.(715-717)Gaa>Aaa p.E239K NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 239 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) AGAAGAAATTGAAGTAATGGC 0.373000 18 90 0 0 1 0 0 HAUS3 79441 broad.mit.edu 37 4 2238161 2238161 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:2238161C>G ENST00000243706.4 - 4 1601 c.1372G>C c.(1372-1374)Gag>Cag p.E458Q POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.E458Q|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.E458Q NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 458 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TTCTTATTCTCTCCCTCCAAA 0.313000 22 33 0 0 1 0 0 KATNAL1 84056 broad.mit.edu 37 13 30782761 30782761 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr13:30782761C>T ENST00000380615.3 - 11 1556 c.1389G>A c.(1387-1389)ttG>ttA p.L463L KATNAL1_ENST00000380617.3_Silent_p.L463L NM_032116.4 NP_115492.1 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 463 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) TCTTTAGGGCCAATTCAAAGT 0.418000 24 55 0 0 1 0 0 MARCH3 115123 broad.mit.edu 37 5 126214081 126214081 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:126214081C>T ENST00000308660.5 - 4 913 c.399G>A c.(397-399)ctG>ctA p.L133L NM_178450.3 NP_848545.1 Q86UD3 MARH3_HUMAN membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase 133 endocytosis cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome ligase activity|zinc ion binding large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793) CAGGGTTTCTCAGCCACTGCC 0.547000 4 10 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99969078 99969078 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr10:99969078G>C ENST00000298999.3 + 5 1510 c.1207G>C c.(1207-1209)Gat>Cat p.D403H R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D403H|R3HCC1L_ENST00000370586.2_Intron NM_014472.4 NP_055287 R3H domain and coiled-coil containing 1-like TAGAATAGCTGATGAGACCTC 0.398000 41 100 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10419630 10419630 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:10419630G>A ENST00000226207.5 - 4 328 c.234C>T c.(232-234)ttC>ttT p.F78F RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 78 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGTTCATGGGGAAGACTTGGT 0.468000 16 129 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186185662 186185662 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr4:186185662C>G ENST00000504273.1 + 4 604 c.310C>G c.(310-312)Cta>Gta p.L104V SNX25_ENST00000264694.8_Missense_Mutation_p.L104V Q9H3E2 SNX25_HUMAN sorting nexin 25 104 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) AGTAAGATTTCTACAAACGTG 0.413000 28 42 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171083364 171083364 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:171083364G>A ENST00000367755.4 + 7 1156 c.1045G>A c.(1045-1047)Gag>Aag p.E349K FMO3_ENST00000542847.1_Missense_Mutation_p.E329K|FMO3_ENST00000392085.2_Missense_Mutation_p.E349K|FMO3_ENST00000538429.1_Missense_Mutation_p.E286K NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 349 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAGAAACAATGAGATCATTTT 0.428000 26 59 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16026273 16026273 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr8:16026273C>T ENST00000350896.3 - 4 521 c.324G>A c.(322-324)atG>atA p.M108I MSR1_ENST00000355282.2_Missense_Mutation_p.M108I|MSR1_ENST00000445506.2_Missense_Mutation_p.M126I|MSR1_ENST00000262101.5_Missense_Mutation_p.M108I|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.M108I NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 108 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTTGAAATCTCATTTCCTCTT 0.403000 33 73 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17112890 17112890 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr11:17112890G>A ENST00000265970.7 - 31 4868 c.4869C>T c.(4867-4869)ttC>ttT p.F1623F PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Silent_p.F1243F NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1623 C2. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) CCATTTCATTGAATGTCGGAT 0.328000 18 57 0 0 1 0 0 C12orf74 338809 broad.mit.edu 37 12 93100662 93100662 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr12:93100662G>A ENST00000544406.2 + 2 521 c.255G>A c.(253-255)tcG>tcA p.S85S C12orf74_ENST00000397833.3_Silent_p.S85S Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 85 p.S85S(1) kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 GTTACCTTTCGAAGAGCCTGC 0.567000 14 41 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69640534 69640534 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:69640534G>A ENST00000370598.1 + 4 1662 c.841G>A c.(841-843)Gat>Aat p.D281N NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 281 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGAACAAGCTGATGCTGCTAA 0.333000 10 31 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39824382 39824382 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr1:39824382G>C ENST00000564288.1 + 46 12734 c.11957G>C c.(11956-11958)gGa>gCa p.G3986A MACF1_ENST00000372915.3_Missense_Mutation_p.G3991A|MACF1_ENST00000289893.4_Missense_Mutation_p.G2426A|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.G4023A|MACF1_ENST00000317713.7_Missense_Mutation_p.G1924A|MACF1_ENST00000545844.1_Missense_Mutation_p.G1924A|MACF1_ENST00000361689.2_Missense_Mutation_p.G1924A|MACF1_ENST00000539005.1_Missense_Mutation_p.G1924A Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3991 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACACGATTAGGATCTCACCTG 0.502000 16 38 0 0 1 0 0 RPA1 6117 broad.mit.edu 37 17 1747276 1747276 + Silent SNP A A T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr17:1747276A>T ENST00000254719.5 + 3 257 c.147A>T c.(145-147)ggA>ggT p.G49G NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 49 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 TGAGTGATGGATTGAACACTC 0.443000 Nucleotide excision repair (NER) 10 43 0 0 1 0 0 CAPN3 825 broad.mit.edu 37 15 42703108 42703108 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr15:42703108G>C ENST00000397163.3 + 22 2509 c.2290G>C c.(2290-2292)Gac>Cac p.D764H CAPN3_ENST00000318023.7_Missense_Mutation_p.D758H|CAPN3_ENST00000337571.4_Missense_Mutation_p.D99H|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.D252H|CAPN3_ENST00000357568.3_Missense_Mutation_p.D758H|CAPN3_ENST00000356316.3_Missense_Mutation_p.D671H|CAPN3_ENST00000397204.4_Missense_Mutation_p.D99H|CAPN3_ENST00000569136.1_Missense_Mutation_p.D99H|CAPN3_ENST00000349748.3_Missense_Mutation_p.D672H|CAPN3_ENST00000561817.1_Missense_Mutation_p.D99H|CAPN3_ENST00000562199.1_3'UTR NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 764 Domain IV. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CCAGCTCTATGACATCATTAC 0.517000 20 49 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166243479 166243479 + Missense_Mutation SNP T T C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:166243479T>C ENST00000357398.3 + 26 5065 c.4775T>C c.(4774-4776)aTt>aCt p.I1592T SCN2A_ENST00000283256.6_Missense_Mutation_p.I1592T|SCN2A_ENST00000375427.2_Missense_Mutation_p.I1592T|SCN2A_ENST00000375437.2_Missense_Mutation_p.I1592T Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1592 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TATTTCACTATTGGATGGAAT 0.343000 18 72 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26890543 26890543 + Missense_Mutation SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr5:26890543C>T ENST00000231021.4 - 8 1556 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 462 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E462*(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTACTTATTTCTGTGGCTGTA 0.393000 21 126 0 0 1 0 0 POLR3E 55718 broad.mit.edu 37 16 22319516 22319516 + Silent SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr16:22319516C>G ENST00000299853.5 + 4 302 c.135C>G c.(133-135)ctC>ctG p.L45L POLR3E_ENST00000564209.1_Silent_p.L45L|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000359210.4_Silent_p.L45L|POLR3E_ENST00000418581.2_Intron NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 45 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) TTCCGCACCTCTCAGCCAAGA 0.627000 10 43 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37513484 37513484 + Frame_Shift_Del DEL C C - TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr2:37513484delC ENST00000379066.1 - 6 1508 c.746delG c.(745-747)agafs p.R249fs PRKD3_ENST00000234179.2_Frame_Shift_Del_p.R249fs O94806 KPCD3_HUMAN protein kinase D3 249 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) AGAAGGAATTCTCTTACTTGG 0.418 15 52 --- --- --- --- LINC00518 221718 broad.mit.edu 37 6 10430699 10430699 + RNA DEL T T - rs79230388 TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:10430699delT ENST00000496285.1 - 0 489 NR_027793.1 CTCTGACTAGttttttttttt 0.453 2 4 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652198 36652199 + Frame_Shift_Ins INS - - G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr6:36652198_36652199insG ENST00000405375.1 + 2 555_556 c.320_321insG c.(319-324)gaggaafs p.E108fs CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.E108fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.E108fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.E142fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 108 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GGGACAGCAGAGGAAGACCATG 0.653 8 19 --- --- --- --- LY96 23643 broad.mit.edu 37 8 74903693 74903693 + Frame_Shift_Del DEL T T - TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr8:74903693delT ENST00000284818.2 + 1 107 c.16delT c.(16-18)tttfs p.F7fs LY96_ENST00000518893.1_Frame_Shift_Del_p.F7fs NM_015364.4 NP_056179 Q9Y6Y9 LY96_HUMAN lymphocyte antigen 96 7 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) ACCATTTCTGTTTTTTTCCAC 0.368 23 75 --- --- --- --- RAD23B 5887 broad.mit.edu 37 9 110062443 110062451 + In_Frame_Del DEL ATTGAATCT ATTGAATCT - TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr9:110062443_110062451delATTGAATCT ENST00000358015.3 + 2 439_447 c.88_96delATTGAATCT c.(88-96)attgaatctdel p.IES30del RAD23B_ENST00000416373.2_De_novo_Start_InFrame NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 30 Ubiquitin-like. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 GAAAGAGAAGATTGAATCTGAAAAGGGGA 0.287 Direct reversal of damage;Nucleotide excision repair (NER) 16 55 --- --- --- --- EP300 2033 broad.mit.edu 37 22 41564578 41564580 + In_Frame_Del DEL GAA GAA - TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab0a322d-4945-4ed1-88fa-d36a7e13a9db c21f9933-734e-4834-a89d-5c4b683cecae g.chr22:41564578_41564580delGAA ENST00000263253.7 + 24 5219_5221 c.4000_4002delGAA c.(4000-4002)gaadel p.E1334del NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1334 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CAAAACCGTGGAAGTAAAACCAG 0.429 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 15 49 --- --- --- ---