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 SNRNP200 23020 broad.mit.edu 37 2 96967415 96967415 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:96967415C>A ENST00000323853.5 - 4 498 c.421G>T c.(421-423)Gct>Tct p.A141S SNRNP200_ENST00000349783.5_Missense_Mutation_p.A141S NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 141 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TTTAGAACAGCTAGAACTTCA 0.463000 4 87 0.014758 0.0148657 1 1 0 BCL11B 64919 broad.mit.edu 37 14 99724032 99724032 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:99724032C>T ENST00000345514.2 - 2 469 c.203G>A c.(202-204)gGg>gAg p.G68E BCL11B_ENST00000357195.3_Missense_Mutation_p.G68E|BCL11B_ENST00000443726.2_Intron NM_001282238.1|NM_022898.1 NP_001269167.1|NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 0 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CAGGATGTCCCCCAAGGGGAA 0.602000 T TLX3 T-ALL 40 18 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990830 990830 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:990830C>T ENST00000190165.2 + 2 1282 c.1244C>T c.(1243-1245)tCt>tTt p.S415F NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 415 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) CCCAGTAACTCTACCAGCGTC 0.557000 39 43 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152737662 152737662 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:152737662C>G ENST00000367255.5 - 41 6511 c.5910G>C c.(5908-5910)caG>caC p.Q1970H SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1970H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2007H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1977H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1977H NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1970 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) CTGCCTCACTCTGCTTGGTTC 0.493000 HNSCC(10;0.0054) 48 163 0 0 1 0 0 P2RX3 5024 broad.mit.edu 37 11 57114101 57114101 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:57114101G>A ENST00000263314.2 + 2 237 c.203G>A c.(202-204)gGa>gAa p.G68E NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 68 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 AAGGGCTCCGGACTCTACGCC 0.567000 9 42 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 162003 162003 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:162003G>C ENST00000283426.6 + 10 1575 c.1525G>C c.(1525-1527)Gag>Cag p.E509Q NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 509 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CAGCCAGGCTGAGTGCAGGGA 0.632000 8 486 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100730774 100730774 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:100730774G>C ENST00000306085.6 + 3 478 c.181G>C c.(181-183)Gag>Cag p.E61Q NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 61 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) CGAGTGCCGCGAGACAGTGCC 0.672000 16 51 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88899525 88899525 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:88899525G>A ENST00000556553.1 + 10 1592 c.1033G>A c.(1033-1035)Gaa>Aaa p.E345K SPATA7_ENST00000045347.7_Missense_Mutation_p.E377K|SPATA7_ENST00000393545.4_Missense_Mutation_p.E377K|SPATA7_ENST00000356583.5_Missense_Mutation_p.E345K Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 377 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 TGTAACAGATGAAATTTTGAA 0.264000 12 5 0 0 1 0 0 NEU1 4758 broad.mit.edu 37 6 31827906 31827906 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:31827906C>G ENST00000375631.4 - 5 1063 c.934G>C c.(934-936)Gag>Cag p.E312Q NM_000434.3 NP_000425.1 Q99519 NEUR1_HUMAN sialidase 1 (lysosomal sialidase) 312 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) TCCACGAGCTCAGGGTCGAAG 0.562000 51 31 0 0 1 0 0 C9orf41 138199 broad.mit.edu 37 9 77631211 77631211 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:77631211A>T ENST00000376834.3 - 3 715 c.563T>A c.(562-564)aTt>aAt p.I188N C9orf41_ENST00000376837.3_Missense_Mutation_p.I188N NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 188 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 ATTTTTTAAAATTTCTTTAAT 0.333000 20 71 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160789143 160789143 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:160789143G>A ENST00000368037.5 + 7 1591 c.1477G>A c.(1477-1479)Gag>Aag p.E493K LY9_ENST00000392203.4_Missense_Mutation_p.E403K|LY9_ENST00000368040.1_Missense_Mutation_p.E145K|LY9_ENST00000341032.4_Missense_Mutation_p.E403K|LY9_ENST00000368041.2_Missense_Mutation_p.E363K|LY9_ENST00000263285.6_Missense_Mutation_p.E493K NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CAGCCAAGCTGAGGCCCCAGC 0.488000 19 390 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97626354 97626354 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:97626354C>T ENST00000275053.4 - 18 2909 c.2644G>A c.(2644-2646)Gaa>Aaa p.E882K MMS22L_ENST00000369251.2_Missense_Mutation_p.E842K NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 882 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 TTAGGGTCTTCTGAGATGGAT 0.308000 8 46 0 0 1 0 0 VMP1 81671 broad.mit.edu 37 17 57812812 57812812 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:57812812A>G ENST00000262291.4 + 3 500 c.190A>G c.(190-192)Atc>Gtc p.I64V VMP1_ENST00000539763.1_Intron|VMP1_ENST00000536180.1_5'UTR|VMP1_ENST00000545362.1_Missense_Mutation_p.I64V|VMP1_ENST00000537567.1_5'UTR NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 64 autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 AATCCTTGTAATCTTGAAGGA 0.398000 7 33 0 0 1 0 0 ARPC5 10092 broad.mit.edu 37 1 183604790 183604790 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:183604790G>A ENST00000359856.6 - 1 71 c.5C>T c.(4-6)tCg>tTg p.S2L ARPC5_ENST00000367534.1_Missense_Mutation_p.S2L|ARPC5_ENST00000294742.6_Missense_Mutation_p.S2L NM_005717.3 NP_005708.1 O15511 ARPC5_HUMAN actin related protein 2/3 complex, subunit 5, 16kDa 2 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 TGTGTTCTTCGACATCCCAAT 0.607000 7 35 0 0 1 0 0 EDEM2 55741 broad.mit.edu 37 20 33735053 33735053 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:33735053G>A ENST00000374492.3 - 1 114 c.9C>T c.(7-9)ttC>ttT p.F3F EDEM2_ENST00000374491.3_Silent_p.F3F|EDEM2_ENST00000540582.1_Intron|EDEM2_ENST00000542871.1_5'UTR NM_018217.2 NP_060687.2 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 3 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) TGAGCAGCCGGAAAGGCATAG 0.677000 4 20 0 0 1 0 0 RP11-704M14.1 0 broad.mit.edu 37 4 70080566 70080566 + RNA SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:70080566G>A ENST00000505646.1 + 0 730 GGAGCATCCTGAGTACATGGA 0.318000 7 10 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72346257 72346257 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr18:72346257C>T ENST00000299687.5 + 1 3282 c.3282C>T c.(3280-3282)atC>atT p.I1094I ZNF407_ENST00000577538.1_Silent_p.I1094I|ZNF407_ENST00000309902.6_Silent_p.I1094I|ZNF407_ENST00000582337.1_Silent_p.I1094I NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1094 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CCAAAAACATCATTATGCCTG 0.388000 12 22 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50402600 50402600 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:50402600C>T ENST00000435965.1 - 37 3308 c.3135G>A c.(3133-3135)caG>caA p.Q1045Q CACNA2D2_ENST00000424201.2_Silent_p.Q1038Q|CACNA2D2_ENST00000360963.3_Silent_p.Q969Q|CACNA2D2_ENST00000423994.2_Silent_p.Q1046Q|CACNA2D2_ENST00000479441.1_Silent_p.Q1045Q|CACNA2D2_ENST00000429770.1_Silent_p.Q1039Q|CACNA2D2_ENST00000395083.1_Silent_p.Q1038Q|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000266039.3_Silent_p.Q1038Q Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 1045 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TGGTCAGTCTCTGCGCGTGGA 0.687000 11 40 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143203 55143203 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:55143203C>T ENST00000396331.1 + 5 680 c.323C>T c.(322-324)tCa>tTa p.S108L LILRB1_ENST00000448689.1_Missense_Mutation_p.S108L|LILRB1_ENST00000418536.2_Missense_Mutation_p.S108L|LILRB1_ENST00000434867.2_Missense_Mutation_p.S108L|LILRB1_ENST00000427581.2_Missense_Mutation_p.S144L|LILRB1_ENST00000396317.1_Missense_Mutation_p.S108L|LILRB1_ENST00000324602.7_Missense_Mutation_p.S108L|LILRB1_ENST00000396332.4_Missense_Mutation_p.S108L|LILRB1_ENST00000396327.3_Missense_Mutation_p.S108L|LILRB1_ENST00000396315.1_Missense_Mutation_p.S108L|LILRB1_ENST00000396321.2_Missense_Mutation_p.S108L NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 108 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GCAGGCCGCTCAGAGAGCAGT 0.622000 HNSCC(37;0.09) 44 76 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71010049 71010049 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:71010049G>C ENST00000357250.6 - 3 287 c.129C>G c.(127-129)ctC>ctG p.L43L COL9A1_ENST00000370496.3_Silent_p.L43L NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 43 Nonhelical region (NC4). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TCTTTGGACAGAGTTCATTTC 0.343000 17 51 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215807871 215807871 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:215807871C>G ENST00000366943.2 - 70 15613 c.15227G>C c.(15226-15228)aGa>aCa p.R5076T USH2A_ENST00000307340.3_Missense_Mutation_p.R5076T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 5076 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.R5076I(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAAGGGAGGTCTTTCTCTGAT 0.443000 HNSCC(13;0.011) 10 49 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179613743 179613743 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:179613743C>T ENST00000360870.5 - 46 13606 c.13384G>A c.(13384-13386)Gaa>Aaa p.E4462K TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 590 Ig-like 24. 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) TTTTCAAATTCGATAATTCTA 0.348000 11 27 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37646961 37646961 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:37646961C>T ENST00000447079.4 + 3 2116 c.2083C>T c.(2083-2085)Cag>Tag p.Q695* CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q695* NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 695 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CACACCACCTCAGCAACCATA 0.458000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 17 46 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23208857 23208857 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:23208857T>C ENST00000400191.3 + 6 1327 c.1309T>C c.(1309-1311)Tcg>Ccg p.S437P EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.S431P|EPHB2_ENST00000374630.3_Missense_Mutation_p.S437P|EPHB2_ENST00000544305.1_Missense_Mutation_p.S437P|EPHB2_ENST00000374632.3_Missense_Mutation_p.S437P NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 437 Fibronectin type-III 2. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TCCAGCTCCATCGGCAGTGTC 0.612000 24 27 0 0 1 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938321 116938321 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:116938321G>C ENST00000229554.5 + 1 672 c.535G>C c.(535-537)Gac>Cac p.D179H RSPH4A_ENST00000368580.4_Missense_Mutation_p.D179H|RSPH4A_ENST00000368581.4_Missense_Mutation_p.D179H NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 179 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCTGAGATTTGACGTTTTTCA 0.502000 Kartagener syndrome 23 131 0 0 1 0 0 TPSD1 23430 broad.mit.edu 37 16 1306684 1306684 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:1306684G>A ENST00000211076.3 + 2 398 c.250G>A c.(250-252)Gaa>Aaa p.E84K TPSD1_ENST00000397534.2_Missense_Mutation_p.E77K NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 84 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) GCACTGCGTGGAACCGTGAGT 0.697000 11 37 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151223904 151223904 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:151223904G>A ENST00000535741.1 - 53 8363 c.7890C>T c.(7888-7890)gtC>gtT p.V2630V LRBA_ENST00000357115.3_Silent_p.V2641V|LRBA_ENST00000510413.1_Silent_p.V2630V|LRBA_ENST00000503716.1_5'UTR P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2641 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CAAGGCAAGTGACGACATCCC 0.373000 26 50 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589878 11589878 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:11589878C>T ENST00000294484.6 + 15 3102 c.2964C>T c.(2962-2964)ttC>ttT p.F988F PTCHD2_ENST00000389575.3_Silent_p.F988F NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 988 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCTTCGGCTTCAACCCCTGCG 0.637000 13 31 0 0 1 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37368823 37368823 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:37368823T>C ENST00000233057.4 - 5 584 c.262A>G c.(262-264)Aca>Gca p.T88A EIF2AK2_ENST00000405334.1_Missense_Mutation_p.T88A|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.T88A NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 88 evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) TTCGTTGTTGTCAATAATAAA 0.289000 13 35 0 0 1 0 0 HES1 3280 broad.mit.edu 37 3 193854187 193854187 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:193854187G>C ENST00000232424.3 + 1 254 c.18G>C c.(16-18)atG>atC p.M6I NM_005524.3 NP_005515.1 Q14469 HES1_HUMAN hes family bHLH transcription factor 1 6 endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) CTGATATAATGGAGAAAAATT 0.403000 4 27 0 0 1 0 0 NKX2-5 1482 broad.mit.edu 37 5 172661786 172661786 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:172661786C>T ENST00000329198.4 - 1 574 c.301G>A c.(301-303)Gac>Aac p.D101N NKX2-5_ENST00000424406.2_Missense_Mutation_p.D101N|NKX2-5_ENST00000521848.1_Missense_Mutation_p.D101N NM_001166175.1|NM_001166176.1|NM_004387.3 NP_001159647.1|NP_001159648.1|NP_004378.1 P52952 NKX25_HUMAN NK2 homeobox 5 101 Ala/Pro-rich. adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1) 12 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TTGGCTGGGTCGGGGTCGCTG 0.657000 11 20 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133306821 133306821 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:133306821C>T ENST00000539605.1 - 10 8425 c.1741G>A c.(1741-1743)Gaa>Aaa p.E581K ANKLE2_ENST00000357997.5_Missense_Mutation_p.E643K|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542657.1_5'UTR|ANKLE2_ENST00000542282.1_5'UTR Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 643 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) ATGTCATCTTCATCTAGAAAC 0.522000 18 55 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104128191 104128191 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:104128191G>A ENST00000369983.3 + 22 3116 c.2856G>A c.(2854-2856)caG>caA p.Q952Q NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 952 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CAATCATCCAGAAAGCCATCT 0.512000 16 34 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178420827 178420827 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:178420827C>T ENST00000448150.3 + 10 2513 c.1695C>T c.(1693-1695)ttC>ttT p.F565F RASAL2_ENST00000462775.1_Silent_p.F435F|RASAL2_ENST00000367649.3_Silent_p.F583F NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 435 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 AGCTGGCTTTCTGCAAGATCA 0.403000 21 82 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 889796 889796 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:889796G>A ENST00000323510.4 - 1 18 c.19C>T c.(19-21)Ctt>Ttt p.L7F BRD9_ENST00000435709.2_Missense_Mutation_p.L7F|BRD9_ENST00000388890.4_Missense_Mutation_p.L7F|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000483173.1_Intron Q9H8M2 BRD9_HUMAN bromodomain containing 9 0 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TTGAATACAAGACTTTGGTAT 0.423000 10 286 0 0 1 0 0 NDE1 54820 broad.mit.edu 37 16 15790665 15790665 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:15790665G>C ENST00000396355.1 + 9 1721 c.895G>C c.(895-897)Gat>Cat p.D299H NDE1_ENST00000342673.5_Missense_Mutation_p.D299H|NDE1_ENST00000396354.1_Missense_Mutation_p.D299H|NDE1_ENST00000396353.2_Missense_Mutation_p.D299H NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 299 cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 CAAGAACAGAGATGGCGGGGA 0.612000 14 93 0 0 1 0 0 ZNF630 57232 broad.mit.edu 37 X 47918067 47918067 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:47918067T>C ENST00000276054.4 - 5 2326 c.1392A>G c.(1390-1392)atA>atG p.I464M ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.I588M|ZNF630_ENST00000442455.3_Missense_Mutation_p.I574M Q2M218 ZN630_HUMAN zinc finger protein 630 588 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 TTTTCTGATGTATAATGAGTG 0.408000 8 15 0 0 1 0 0 PGRMC1 10857 broad.mit.edu 37 X 118370404 118370404 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:118370404C>T ENST00000217971.7 + 1 189 c.78C>T c.(76-78)ttC>ttT p.F26F PGRMC1_ENST00000535419.1_Silent_p.F26F NM_006667.3 NP_006658.1 O00264 PGRC1_HUMAN progesterone receptor membrane component 1 26 cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding lung(6) 6 ATGAGATTTTCACGTCGCCGC 0.647000 11 16 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906176 164906176 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:164906176C>G ENST00000475390.1 - 2 2886 c.2443G>C c.(2443-2445)Gag>Cag p.E815Q SLITRK3_ENST00000241274.3_Missense_Mutation_p.E815Q O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 815 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CACTCCTTCTCTTTTTCCAGC 0.547000 HNSCC(40;0.11) 25 104 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 591423 591423 + Missense_Mutation SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:591423T>A ENST00000264555.5 + 5 588 c.460T>A c.(460-462)Tgc>Agc p.C154S PHRF1_ENST00000533464.1_Missense_Mutation_p.C150S|PHRF1_ENST00000416188.2_Missense_Mutation_p.C154S|PHRF1_ENST00000413872.2_Missense_Mutation_p.C153S NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 154 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 TCTATTTAAGTGCATTTGTAT 0.438000 7 9 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124732148 124732148 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:124732148G>A ENST00000311127.4 - 6 2342 c.2275C>T c.(2275-2277)Cag>Tag p.Q759* NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 759 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GTTGATGTCTGAAATGAAGTC 0.473000 46 155 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51486866 51486866 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:51486866C>T ENST00000340438.4 + 1 386 c.144C>T c.(142-144)ttC>ttT p.F48F NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 48 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) GCTCGGCTTTCAGCCGTAAGC 0.697000 13 23 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 163585 163585 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:163585C>T ENST00000283426.6 + 11 2380 c.2330C>T c.(2329-2331)cCg>cTg p.P777L NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 777 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGGAGCCCCCCGGTCACTCAG 0.647000 9 424 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35331745 35331745 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:35331745G>A ENST00000373347.1 - 12 3147 c.2879C>T c.(2878-2880)tCg>tTg p.S960L DLGAP3_ENST00000235180.4_Missense_Mutation_p.S960L O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 960 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CTCGGTGGCCGAGCTGTGGCG 0.741000 5 7 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38565820 38565820 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:38565820G>A ENST00000287675.5 + 6 1170 c.1074G>A c.(1072-1074)gaG>gaA p.E358E EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Silent_p.E308E NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 358 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 AAGCTAAGGAGCAGTCAGGAA 0.398000 12 31 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163374268 163374268 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:163374268G>A ENST00000332142.5 - 4 963 c.864C>T c.(862-864)aaC>aaT p.N288N KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Silent_p.N288N NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 288 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CTCTAAATATGTTCTTGGGGT 0.383000 25 54 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78282946 78282946 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:78282946G>A ENST00000582970.1 + 14 2773 c.2630G>A c.(2629-2631)aGa>aAa p.R877K RNF213_ENST00000456466.1_Missense_Mutation_p.R877K|RNF213_ENST00000508628.2_Missense_Mutation_p.R926K|RNF213_ENST00000319921.4_Missense_Mutation_p.R877K NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 877 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) ATTGTCTGCAGAATGATTAGA 0.468000 29 78 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33470057 33470057 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:33470057A>G ENST00000379471.2 - 4 598 c.511T>C c.(511-513)Tgc>Cgc p.C171R NOL6_ENST00000455041.2_Intron|NOL6_ENST00000464829.1_5'UTR Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 171 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GGTCGGATGCAGGTGCCCAGA 0.587000 37 45 0 0 1 0 0 VPREB1 7441 broad.mit.edu 37 22 22599384 22599384 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:22599384C>G ENST00000403807.3 + 2 212 c.73C>G c.(73-75)Cag>Gag p.Q25E VPREB1_ENST00000302273.2_Missense_Mutation_p.Q24E P12018 VPREB_HUMAN pre-B lymphocyte 1 25 Framework-1.|Ig-like V-type. immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) GGTGCTGCATCAGCCGCCGGC 0.617000 20 44 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186056580 186056580 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:186056580C>A ENST00000271588.4 + 60 9395 c.9166C>A c.(9166-9168)Cca>Aca p.P3056T HMCN1_ENST00000367492.2_Missense_Mutation_p.P3056T NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3056 Ig-like C2-type 29. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTCAGTGCCCCCAAGCATTAA 0.373000 18 56 2.35188e-11 2.49114e-11 1 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24873966 24873966 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:24873966C>T ENST00000396432.2 - 26 5738 c.5252G>A c.(5251-5253)aGa>aAa p.R1751K NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1750 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GGATTCGCCTCTGGTGGGTGT 0.448000 35 118 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10335507 10335507 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:10335507G>C ENST00000377086.1 + 11 1106 c.904G>C c.(904-906)Gat>Cat p.D302H KIF1B_ENST00000263934.6_Missense_Mutation_p.D296H|KIF1B_ENST00000377093.4_Missense_Mutation_p.D296H|KIF1B_ENST00000377081.1_Missense_Mutation_p.D302H|KIF1B_ENST00000377083.1_Missense_Mutation_p.D296H O60333 KIF1B_HUMAN kinesin family member 1B 302 Interaction with KBP.|Kinesin-motor. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GAAGAAAACAGATTTTATTCC 0.313000 10 23 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819205 159819205 + RNA SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:159819205C>G ENST00000497452.1 - 0 517 CAATGACTATCAGTCCATAGA 0.338000 6 62 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57494894 57494894 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:57494894T>C ENST00000351747.2 - 6 695 c.515A>G c.(514-516)gAa>gGa p.E172G DNAH12_ENST00000311202.6_Missense_Mutation_p.E172G|DNAH12_ENST00000389536.4_Missense_Mutation_p.E172G NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 172 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 AGGACCTCCTTCATCTTCAAG 0.313000 9 35 0 0 1 0 0 RPL7 6129 broad.mit.edu 37 8 74204109 74204109 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:74204109C>T ENST00000396467.1 - 4 345 c.207G>A c.(205-207)ttG>ttA p.L69L RPL7_ENST00000396465.1_Silent_p.L69L|RPL7_ENST00000396466.1_Silent_p.L69L|RPL7_ENST00000352983.2_Silent_p.L109L NM_000971.3 NP_000962.2 P18124 RL7_HUMAN ribosomal protein L7 109 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome breast(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) GAAGAAGCTGCAACACCTTTC 0.413000 30 56 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77755139 77755139 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:77755139T>C ENST00000354212.4 - 20 3692 c.3439A>G c.(3439-3441)Act>Gct p.T1147A MAGI2_ENST00000522391.1_Missense_Mutation_p.T1147A|MAGI2_ENST00000419488.1_Missense_Mutation_p.T1133A NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1147 PDZ 6. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ATGTCCACAGTGAAATAATCA 0.403000 17 33 0 0 1 0 0 SLC10A5 347051 broad.mit.edu 37 8 82605923 82605923 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:82605923G>T ENST00000518568.1 - 1 2486 c.1285C>A c.(1285-1287)Caa>Aaa p.Q429K NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 429 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CTTTTATCTTGTAAGAAAAAG 0.343000 5 10 0.184627 0.184819 1 1 0 ZAN 7455 broad.mit.edu 37 7 100391638 100391638 + RNA SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:100391638C>G ENST00000542585.1 + 0 8194 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATCTACTACCAGGTCTGAGC 0.642000 10 16 0 0 1 0 0 ZNF416 55659 broad.mit.edu 37 19 58084192 58084192 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:58084192T>C ENST00000196489.3 - 4 1302 c.1080A>G c.(1078-1080)ggA>ggG p.G360G NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CAAAGGCTTTTCCACATTCAT 0.418000 53 76 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505745 159505745 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:159505745G>A ENST00000334857.2 - 1 97 c.53C>T c.(52-54)tCt>tTt p.S18F NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) TCCAAAGCTAGAAAATCCCAA 0.368000 20 384 0 0 1 0 0 IMP4 92856 broad.mit.edu 37 2 131103679 131103679 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:131103679C>T ENST00000259239.3 + 7 1391 c.683C>T c.(682-684)tCa>tTa p.S228L IMP4_ENST00000409935.1_Missense_Mutation_p.S228L NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 228 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) GACTACATATCATTCCGGTGG 0.592000 13 32 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42740773 42740773 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:42740773C>T ENST00000261491.5 + 9 1102 c.1081C>T c.(1081-1083)Cag>Tag p.Q361* DGKH_ENST00000536612.1_Nonsense_Mutation_p.Q225*|DGKH_ENST00000540693.1_Nonsense_Mutation_p.Q361*|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Nonsense_Mutation_p.Q116*|DGKH_ENST00000337343.4_Nonsense_Mutation_p.Q361*|DGKH_ENST00000379274.2_Nonsense_Mutation_p.Q225* NM_152910.4 NP_690874.2 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) AAATCCGGCTCAGGTGTTTGA 0.368000 13 21 0 0 1 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428768 128428768 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:128428768G>C ENST00000465342.2 + 2 1814 c.657G>C c.(655-657)gaG>gaC p.E219D CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.E219D|CASC8_ENST00000523825.1_RNA Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 219 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 ATCTTCAGGAGATATGCAAAG 0.507000 3 42 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157660181 157660181 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:157660181C>T ENST00000368184.3 - 9 1845 c.1554G>A c.(1552-1554)ggG>ggA p.G518G FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.G518G NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 518 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CCGAGATGTTCCCCAAGGTGT 0.567000 27 122 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92087888 92087888 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:92087888C>T ENST00000298047.6 + 1 2627 c.2610C>T c.(2608-2610)gtC>gtT p.V870V FAT3_ENST00000409404.2_Silent_p.V870V|FAT3_ENST00000541502.1_Silent_p.V870V|FAT3_ENST00000525166.1_Silent_p.V720V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 870 Cadherin 8. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTACTCAGTCTTGACAGATA 0.408000 TCGA Ovarian(4;0.039) 22 32 0 0 1 0 0 PPIL4 85313 broad.mit.edu 37 6 149867084 149867084 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:149867084C>T ENST00000253329.2 - 1 90 c.58G>A c.(58-60)Gaa>Aaa p.E20K NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 20 PPIase cyclophilin-type. protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) CGCGGCCGTTCTTCGGTGTAC 0.642000 6 19 0 0 1 0 0 TXLNA 200081 broad.mit.edu 37 1 32650157 32650157 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:32650157G>C ENST00000373609.1 + 3 818 c.537G>C c.(535-537)ttG>ttC p.L179F TXLNA_ENST00000373610.3_Missense_Mutation_p.L179F P40222 TXLNA_HUMAN taxilin alpha 179 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGCAGACATTGAATACTCTGA 0.567000 39 89 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332113 100332113 + RNA SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:100332113C>T ENST00000341853.1 - 0 2078 NR_003260.1 TTGCATTTTTCAACTCCGCTG 0.592000 15 27 0 0 1 0 0 ADAM17 6868 broad.mit.edu 37 2 9642320 9642320 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:9642320C>A ENST00000310823.3 - 13 1812 c.1630G>T c.(1630-1632)Ggc>Tgc p.G544C NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 544 Disintegrin. B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) TAGGACACGCCTTTGCAAGTA 0.458000 6 240 0.217242 0.217242 1 1 0 WDR66 144406 broad.mit.edu 37 12 122359356 122359356 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:122359356G>A ENST00000288912.4 + 2 999 c.145G>A c.(145-147)Gag>Aag p.E49K WDR66_ENST00000397454.2_Missense_Mutation_p.E49K|RP11-87C12.2_ENST00000546333.1_3'UTR NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 49 Glu-rich. calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) AGCATGGAGAGAGTCTCagga 0.453000 24 25 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37367249 37367249 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:37367249C>A ENST00000361924.2 + 14 4246 c.3872C>A c.(3871-3873)tCt>tAt p.S1291Y GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1313Y|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1291 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CTAAATATTTCTTTTCAACAG 0.333000 13 27 0.00136819 0.00138977 1 1 0 SRRT 51593 broad.mit.edu 37 7 100481999 100481999 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:100481999G>C ENST00000388793.4 + 7 988 c.768G>C c.(766-768)aaG>aaC p.K256N SRRT_ENST00000432932.1_Missense_Mutation_p.K256N|SRRT_ENST00000457580.2_Missense_Mutation_p.K256N|SRRT_ENST00000347433.4_Missense_Mutation_p.K256N NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 256 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCGTGATTAAGATGGAAGGAG 0.587000 3 17 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212236235 212236235 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:212236235G>T ENST00000366991.4 + 6 784 c.470G>T c.(469-471)tGt>tTt p.C157F DTL_ENST00000542077.1_Missense_Mutation_p.C115F|DTL_ENST00000475419.1_3'UTR NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 157 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) GCTGTATTCTGTACGGGTGGA 0.348000 10 47 1.58986e-06 1.65675e-06 1 1 0 TNFAIP6 7130 broad.mit.edu 37 2 152235955 152235955 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:152235955G>C ENST00000243347.3 + 6 817 c.742G>C c.(742-744)Gat>Cat p.D248H NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 248 cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) TGTTGCAATGGATCCTGTATC 0.363000 26 69 0 0 1 0 0 FKRP 79147 broad.mit.edu 37 19 47259873 47259873 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:47259873A>G ENST00000318584.5 + 4 1463 c.1166A>G c.(1165-1167)gAg>gGg p.E389G FKRP_ENST00000391909.3_Missense_Mutation_p.E389G|FKRP_ENST00000600646.1_Intron NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 389 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) GTGGTGGATGAGCGCGGCTTC 0.632000 5 12 0 0 1 0 0 DHX15 1665 broad.mit.edu 37 4 24534618 24534618 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:24534618C>T ENST00000336812.4 - 12 2125 c.1969G>A c.(1969-1971)Gca>Aca p.A657T DHX15_ENST00000508032.1_5'UTR NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 657 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) ACATTGTCTGCGGACATCAGG 0.413000 4 171 0 0 1 0 0 CBLL1 79872 broad.mit.edu 37 7 107399329 107399329 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:107399329G>A ENST00000440859.3 + 6 1649 c.1182G>A c.(1180-1182)caG>caA p.Q394Q CBLL1_ENST00000222597.2_Silent_p.Q393Q NM_001284291.1|NM_024814.2 NP_001271220.1|NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 TTATTGCCCAGATGCCACCTT 0.522000 49 117 0 0 1 0 0 REL 5966 broad.mit.edu 37 2 61149307 61149307 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:61149307G>A ENST00000295025.8 + 11 1817 c.1497G>A c.(1495-1497)atG>atA p.M499I REL_ENST00000394479.3_Missense_Mutation_p.M467I NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) TGAATATGATGACAACCAGCA 0.428000 A Hodgkin Lymphoma 24 62 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156727863 156727863 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:156727863C>A ENST00000347377.6 + 6 959 c.528C>A c.(526-528)aaC>aaA p.N176K CYFIP2_ENST00000442283.2_De_novo_Start_InFrame|CYFIP2_ENST00000521420.1_Missense_Mutation_p.N150K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.N101K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.N176K|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Missense_Mutation_p.N176K NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 176 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGCTAAAGAACATGAAGTGCA 0.567000 8 26 0.00307968 0.00311842 1 1 0 CNKSR2 22866 broad.mit.edu 37 X 21393072 21393072 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:21393072G>A ENST00000425654.2 + 1 537 c.57G>A c.(55-57)tgG>tgA p.W19* CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.W19*|CNKSR2_ENST00000379510.3_Nonsense_Mutation_p.W19*|CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.W19* NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 19 SAM. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TAGTGGACTGGATGAAAGGTA 0.652000 20 24 0 0 1 0 0 UBE2H 7328 broad.mit.edu 37 7 129474824 129474824 + Missense_Mutation SNP A A C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:129474824A>C ENST00000355621.3 - 7 898 c.505T>G c.(505-507)Tct>Gct p.S169A UBE2H_ENST00000473814.2_Missense_Mutation_p.S138A NM_001202498.1|NM_003344.3 NP_001189427.1|NP_003335.1 P62256 UBE2H_HUMAN ubiquitin-conjugating enzyme E2H 169 protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin-protein ligase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1) 10 Melanoma(18;0.0435) TCAGACATAGAGCTCTCCGAT 0.493000 31 55 0 0 1 0 0 PBX3 5090 broad.mit.edu 37 9 128697770 128697770 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:128697770A>G ENST00000373487.4 + 5 807 c.727A>G c.(727-729)Agt>Ggt p.S243G PBX3_ENST00000373489.5_Missense_Mutation_p.S243G|PBX3_ENST00000447726.2_Missense_Mutation_p.S168G|PBX3_ENST00000342287.5_Missense_Mutation_p.S243G|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.S62G P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 243 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2) 24 GCGTAACTTCAGTAAACAGGC 0.413000 18 42 0 0 1 0 0 TRMT2A 27037 broad.mit.edu 37 22 20103693 20103693 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:20103693C>T ENST00000252136.7 - 2 855 c.467G>A c.(466-468)cGa>cAa p.R156Q TRMT2A_ENST00000403707.3_Missense_Mutation_p.R156Q|RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.R156Q|TRMT2A_ENST00000439169.2_Missense_Mutation_p.R156Q NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 156 Poly-Arg. RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 ACCCTCCTGTCGCCTCCTCCT 0.652000 13 34 0 0 1 0 0 RWDD1 51389 broad.mit.edu 37 6 116911482 116911482 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:116911482G>A ENST00000466444.2 + 5 678 c.462G>A c.(460-462)tgG>tgA p.W154* RWDD1_ENST00000487832.2_Nonsense_Mutation_p.W58*|RWDD1_ENST00000392526.1_Nonsense_Mutation_p.W58* NM_015952.2 NP_057036.2 Q9H446 RWDD1_HUMAN RWD domain containing 1 154 Interaction with DRG2 (By similarity). protein binding p.W154*(1) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1) 12 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) TCTTAAATTGGAAAGCCAAGT 0.308000 6 40 0 0 1 0 0 PAX7 5081 broad.mit.edu 37 1 19062210 19062210 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:19062210G>A ENST00000420770.2 + 8 1323 c.1240G>A c.(1240-1242)Gac>Aac p.D414N PAX7_ENST00000400661.3_Missense_Mutation_p.D412N|PAX7_ENST00000375375.3_Missense_Mutation_p.D414N NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 414 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) TGGCGGCCTGGACTCGGCCAC 0.667000 T FOXO1A alveolar rhabdomyosarcoma 20 56 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138376657 138376657 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:138376657T>C ENST00000477593.1 - 21 2890 c.2817A>G c.(2815-2817)ggA>ggG p.G939G PIK3CB_ENST00000289153.2_Silent_p.G939G|PIK3CB_ENST00000544716.1_Silent_p.G390G P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 939 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CAAGAATATGTCCAAAGTCAA 0.353000 20 26 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30785347 30785347 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:30785347G>T ENST00000324685.6 + 20 3353 c.2918G>T c.(2917-2919)cGg>cTg p.R973L RNF40_ENST00000563683.1_Missense_Mutation_p.R933L|RNF40_ENST00000357890.5_Missense_Mutation_p.R873L|RNF40_ENST00000402121.3_Missense_Mutation_p.R665L NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 973 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GAGTGCGTGCGGGGCCGCTAT 0.597000 7 166 0.00198382 0.00201088 1 1 0 OR1L3 26735 broad.mit.edu 37 9 125437411 125437411 + Translation_Start_Site SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:125437411G>C ENST00000304820.2 + 1 97 c.3G>C c.(1-3)atG>atC p.M1I NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 ACAAGTCCATGGGAATGTCCA 0.408000 20 78 0 0 1 0 0 CCDC14 64770 broad.mit.edu 37 3 123650067 123650067 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:123650067G>C ENST00000485727.1 - 8 5796 c.1204C>G c.(1204-1206)Cta>Gta p.L402V CCDC14_ENST00000433542.2_Missense_Mutation_p.L561V|CCDC14_ENST00000488653.2_Missense_Mutation_p.L602V|CCDC14_ENST00000489746.1_Missense_Mutation_p.L402V|CCDC14_ENST00000310351.4_Missense_Mutation_p.L442V|CCDC14_ENST00000483247.1_Intron Q49A88 CCD14_HUMAN coiled-coil domain containing 14 602 centrosome NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) ACATTGACTAGGGCTTCCTCC 0.368000 7 16 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91818146 91818146 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:91818146T>C ENST00000370425.3 - 16 1992 c.1894A>G c.(1894-1896)Aca>Gca p.T632A HFM1_ENST00000370424.3_Missense_Mutation_p.T311A|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 632 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TAATGCATTGTAGATTTTATA 0.368000 19 24 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91780000 91780000 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:91780000G>A ENST00000389857.6 - 15 2246 c.2160C>T c.(2158-2160)agC>agT p.S720S NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 720 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) CCAGCTTGGTGCTGGTGAAGC 0.607000 16 51 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28807075 28807075 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:28807075G>T ENST00000373839.3 + 9 1980 c.1719G>T c.(1717-1719)gaG>gaT p.E573D PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.E583D NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 573 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) GCAAGGAGGAGTGGAATGAAA 0.433000 36 99 9.21846e-06 9.55476e-06 1 1 0 BIRC3 330 broad.mit.edu 37 11 102195711 102195711 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:102195711G>C ENST00000263464.3 + 2 3221 c.471G>C c.(469-471)ttG>ttC p.L157F BIRC3_ENST00000532808.1_Missense_Mutation_p.L157F NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 157 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) TTTCTGCCTTGATGAGAAGTT 0.408000 T MALT1 MALT 36 79 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31419225 31419225 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:31419225T>C ENST00000389202.2 + 9 1046 c.997T>C c.(997-999)Tat>Cat p.Y333H NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 333 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGAGAAGATCTATGCAGTTGA 0.547000 29 76 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102496233 102496233 + Silent SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:102496233G>T ENST00000360184.4 + 50 9884 c.9720G>T c.(9718-9720)ctG>ctT p.L3240L NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3240 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ATGACAAGCTGAAAAAGATGG 0.473000 33 21 1.30988e-24 1.41537e-24 1 1 0 BCL6 604 broad.mit.edu 37 3 187446846 187446846 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:187446846G>A ENST00000406870.2 - 5 1713 c.1347C>T c.(1345-1347)atC>atT p.I449I RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.I449I|BCL6_ENST00000450123.2_Silent_p.I449I NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 449 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) ACCTGTTAACGATGTTATTGA 0.552000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 14 50 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925978 54925978 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:54925978C>T ENST00000293373.6 + 26 2885 c.2806C>T c.(2806-2808)Ctt>Ttt p.L936F NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L886F NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 936 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CTGCCCATTTCTTATGGGTCC 0.403000 19 18 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71127744 71127744 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:71127744G>A ENST00000393567.2 - 11 1572 c.1422C>T c.(1420-1422)ttC>ttT p.F474F HYDIN_ENST00000448089.2_Silent_p.F474F|HYDIN_ENST00000321489.5_Silent_p.F474F|HYDIN_ENST00000538248.1_Silent_p.F501F|HYDIN_ENST00000448691.1_Silent_p.F474F|HYDIN_ENST00000393550.2_Silent_p.F474F|HYDIN_ENST00000541601.1_Silent_p.F491F|HYDIN_ENST00000288168.10_Silent_p.F491F NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 474 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CAGATCCAGTGAAAACTTTCC 0.408000 12 22 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160168476 160168476 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:160168476A>G ENST00000368079.3 + 8 1095 c.820A>G c.(820-822)Atg>Gtg p.M274V CASQ1_ENST00000368078.3_Missense_Mutation_p.M280V|CASQ1_ENST00000467691.1_Start_Codon_SNP_p.M1V NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 280 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGAGGATGATATGGATGGAAT 0.532000 289 47 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22069113 22069113 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:22069113G>A ENST00000306385.5 + 20 3503 c.2833G>A c.(2833-2835)Gag>Aag p.E945K BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 945 CUB 5. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CCAGCCTCCTGAGGAGGTGTA 0.572000 29 38 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907884 164907884 + Silent SNP A A G rs140320748 byFrequency TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:164907884A>G ENST00000475390.1 - 2 1178 c.735T>C c.(733-735)agT>agC p.S245S SLITRK3_ENST00000241274.3_Silent_p.S245S O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 245 LRRCT 1. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GTTCCAGCCAACTCTTCAGTT 0.478000 HNSCC(40;0.11) 46 55 0 0 1 0 0 GAS6 2621 broad.mit.edu 37 13 114523944 114523944 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:114523944T>C ENST00000357389.3 - 15 2211 c.2059A>G c.(2059-2061)Atg>Gtg p.M687V GAS6_ENST00000327773.6_Missense_Mutation_p.M644V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.M345V|GAS6_ENST00000355761.4_Missense_Mutation_p.M590V|GAS6_ENST00000450766.1_Missense_Mutation_p.M371V Q14393 GAS6_HUMAN growth arrest-specific 6 687 Laminin G-like 2. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) TCCAGTGTCATGCAGCCGCGG 0.672000 15 19 0 0 1 0 0 ZBTB47 92999 broad.mit.edu 37 3 42705397 42705397 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:42705397A>G ENST00000457842.3 + 5 2127 c.718A>G c.(718-720)Aag>Gag p.K240E ZBTB47_ENST00000505904.1_Missense_Mutation_p.K162E|ZBTB47_ENST00000232974.6_Missense_Mutation_p.K616E NM_145166.3 NP_660149.2 Q9UFB7 ZBT47_HUMAN zinc finger and BTB domain containing 47 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.216) CTTCAACATGAAGCAGTACTT 0.597000 5 27 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120213550 120213550 + Silent SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:120213550C>A ENST00000450251.1 + 15 2950 c.2406C>A c.(2404-2406)ccC>ccA p.P802P USP53_ENST00000274030.6_Silent_p.P802P Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 802 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 TACAAATACCCAAGGACCATA 0.338000 8 17 0.000442599 0.000451003 1 1 0 RBM23 55147 broad.mit.edu 37 14 23371437 23371437 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:23371437G>A ENST00000359890.3 - 11 1280 c.1085C>T c.(1084-1086)tCa>tTa p.S362L RBM23_ENST00000346528.5_Missense_Mutation_p.S328L|RBM23_ENST00000399922.2_Missense_Mutation_p.S346L|RBM23_ENST00000542016.2_Missense_Mutation_p.S192L|RBM23_ENST00000555209.1_Missense_Mutation_p.S112L NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 362 mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) TCCACCTGCTGATCCCAGATC 0.512000 31 27 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148951299 148951299 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:148951299C>T ENST00000335870.2 + 5 1409 c.1281C>T c.(1279-1281)ctC>ctT p.L427L NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GGAGTTCCCTCATCTGTGGTT 0.612000 7 22 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247254 164247254 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:164247254A>G ENST00000296533.2 - 2 984 c.453T>C c.(451-453)aaT>aaC p.N151N NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 151 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CATGTCTATTATTTGGTCTCC 0.443000 19 33 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11531535 11531535 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:11531535G>C ENST00000356392.4 - 13 1843 c.1756C>G c.(1756-1758)Cac>Gac p.H586D CCDC151_ENST00000591179.1_Missense_Mutation_p.H526D|CCDC151_ENST00000545100.1_Missense_Mutation_p.H532D|CCDC151_ENST00000586836.1_Missense_Mutation_p.H395D NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 586 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 TGCTTCTTGTGACTTTCGATT 0.617000 18 59 0 0 1 0 0 TOPBP1 11073 broad.mit.edu 37 3 133374180 133374180 + Missense_Mutation SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:133374180T>A ENST00000260810.5 - 6 827 c.696A>T c.(694-696)caA>caT p.Q232H TOPBP1_ENST00000511439.1_5'UTR NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 232 BRCT 2. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TCATTTTCAATTGTCCCATGT 0.363000 Other conserved DNA damage response genes 29 51 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157525063 157525063 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:157525063G>A ENST00000346085.5 + 19 4959 c.4958G>A c.(4957-4959)tGg>tAg p.W1653* ARID1B_ENST00000350026.5_Nonsense_Mutation_p.W1640*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.W1635*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.W1693* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1640 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.W1653L(1)|p.W1635L(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GAGAGTACGTGGGCTTTGGAC 0.433000 149 182 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74288282 74288282 + Silent SNP G G T rs140848920 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:74288282G>T ENST00000262765.5 - 4 2207 c.2028C>A c.(2026-2028)gtC>gtA p.V676V NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 676 Gln-rich. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 caccaggttggaccaaaccac 0.557000 27 87 5.61819e-17 6.0369e-17 1 1 0 PHIP 55023 broad.mit.edu 37 6 79711637 79711637 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:79711637G>A ENST00000275034.4 - 17 2025 c.1858C>T c.(1858-1860)Cag>Tag p.Q620* NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 620 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) ACTCCCATCTGAGGGATGAGT 0.408000 14 7 0 0 1 0 0 MRPL40 64976 broad.mit.edu 37 22 19423380 19423380 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:19423380G>A ENST00000333130.3 + 4 1169 c.516G>A c.(514-516)gaG>gaA p.E172E HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR NM_003776.2 NP_003767.2 Q9NQ50 RM40_HUMAN mitochondrial ribosomal protein L40 172 anatomical structure morphogenesis mitochondrial ribosome|nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) TCCCCTTTGAGAAGGAAGGGC 0.527000 17 31 0 0 1 0 0 STX12 23673 broad.mit.edu 37 1 28116095 28116095 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:28116095G>A ENST00000373943.4 + 2 266 c.141G>A c.(139-141)atG>atA p.M47I STX12_ENST00000468761.1_3'UTR NM_177424.2 NP_803173.1 Q86Y82 STX12_HUMAN syntaxin 12 47 cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) AGAATTTGATGAGCCAGCTAG 0.408000 8 21 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26431875 26431875 + RNA SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:26431875C>T ENST00000466808.2 + 0 1823 TGCTGTTTAACATCACAGTGA 0.502000 15 44 0 0 1 0 0 ZNF816 125893 broad.mit.edu 37 19 53454143 53454143 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:53454143A>G ENST00000357666.4 - 5 1185 c.885T>C c.(883-885)acT>acC p.T295T ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.T295T NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 ATGACATCTGAGTGAAGGTCT 0.408000 90 124 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164272531 164272531 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:164272531G>A ENST00000515560.1 + 4 2628 c.1106G>A c.(1105-1107)aGa>aAa p.R369K NPY5R_ENST00000338566.3_Missense_Mutation_p.R369K|NPY5R_ENST00000506953.1_Missense_Mutation_p.R369K Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 369 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) GTTTTCTACAGACTGACCATA 0.328000 9 24 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156381553 156381553 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:156381553C>T ENST00000274532.2 - 2 329 c.273G>A c.(271-273)ccG>ccA p.P91P TIMD4_ENST00000407087.3_Silent_p.P91P NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 91 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATCACCTCTCGGGATAGTCC 0.517000 23 40 0 0 1 0 0 GTPBP3 84705 broad.mit.edu 37 19 17452408 17452408 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:17452408G>C ENST00000324894.8 + 9 1443 c.1375G>C c.(1375-1377)Gag>Cag p.E459Q GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.E438Q|GTPBP3_ENST00000361619.5_Missense_Mutation_p.E481Q|GTPBP3_ENST00000358792.7_Missense_Mutation_p.E491Q NM_032620.3|NM_133644.3 NP_116009.2|NP_598399.2 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) 459 tRNA modification mitochondrion GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 18 CCTGGCGGCAGAGGCGCTGCG 0.657000 19 54 0 0 1 0 0 FCGR2B 2213 broad.mit.edu 37 1 161641318 161641318 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:161641318C>T ENST00000367962.4 + 3 397 c.270C>T c.(268-270)ctC>ctT p.L90L FCGR2B_ENST00000428605.2_Silent_p.L90L|FCGR2B_ENST00000367960.5_Silent_p.L83L|FCGR2B_ENST00000403078.3_Silent_p.L90L|FCGR2B_ENST00000236937.9_Silent_p.L90L|FCGR2B_ENST00000358671.5_Silent_p.L90L|FCGR2B_ENST00000367961.4_Silent_p.L83L P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 90 Ig-like C2-type 1. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATGGGAATCTCATTCCCACCC 0.587000 T ? ALL 17 780 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207424807 207424807 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:207424807C>T ENST00000264377.3 + 11 1462 c.1134C>T c.(1132-1134)cgC>cgT p.R378R ADAM23_ENST00000374416.1_Silent_p.R378R|ADAM23_ENST00000374415.3_Silent_p.R378R NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 378 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) ACCGGCAGCGCATTAAGCAGC 0.473000 10 33 0 0 1 0 0 TREM1 54210 broad.mit.edu 37 6 41250355 41250355 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:41250355C>G ENST00000591620.1 - 2 210 c.184G>C c.(184-186)Gag>Cag p.E62Q TREM1_ENST00000589614.1_Missense_Mutation_p.E62Q|TREM1_ENST00000334475.6_Missense_Mutation_p.E62Q|TREM1_ENST00000244709.4_Missense_Mutation_p.E62Q NM_001242589.1 NP_001229518.1 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 62 Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) TTGGGCATCTCTCCGTCCCTT 0.493000 25 80 0 0 1 0 0 SMC5 23137 broad.mit.edu 37 9 72965198 72965198 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:72965198G>C ENST00000361138.5 + 23 3116 c.3058G>C c.(3058-3060)Gaa>Caa p.E1020Q SMC5_ENST00000471372.1_3'UTR NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 1020 Ala/Asp-rich (DA-box). DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 AGTAGTTGATGAAATCAATCA 0.363000 17 68 0 0 1 0 0 BFAR 51283 broad.mit.edu 37 16 14738401 14738401 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:14738401G>C ENST00000261658.2 + 2 475 c.198G>C c.(196-198)aaG>aaC p.K66N BFAR_ENST00000426842.2_Missense_Mutation_p.E7Q|BFAR_ENST00000563971.1_Missense_Mutation_p.K66N NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 66 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 CATCTTCAAAGAAAACAGAAT 0.483000 53 130 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27672403 27672403 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:27672403T>C ENST00000260570.3 - 38 4290 c.4187A>G c.(4186-4188)tAt>tGt p.Y1396C NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1396 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) GAACTCTTTATAATGCTGGTC 0.488000 25 73 0 0 1 0 0 DUSP11 8446 broad.mit.edu 37 2 73996452 73996452 + Splice_Site SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:73996452T>C ENST00000443070.1 - 5 580 c.575A>G c.(574-576)gAt>gGt p.D192G DUSP11_ENST00000377706.4_Splice_Site_p.D145G|DUSP11_ENST00000272444.3_Splice_Site_p.D192G|DUSP11_ENST00000480948.1_5'UTR O75319 DUS11_HUMAN dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) 145 Tyrosine-protein phosphatase. RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1) 12 AATAAGTTTATCTATAAAAAG 0.358000 11 44 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5245929 5245929 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:5245929G>A ENST00000372412.4 - 10 1082 c.849C>T c.(847-849)gcC>gcT p.A283A PTPRS_ENST00000262963.6_Silent_p.A278A|PTPRS_ENST00000588012.1_Silent_p.A269A|PTPRS_ENST00000592099.1_Silent_p.A269A|PTPRS_ENST00000348075.2_Silent_p.A269A|PTPRS_ENST00000587303.1_Silent_p.A282A|PTPRS_ENST00000357368.4_Silent_p.A282A|PTPRS_ENST00000353284.2_Silent_p.A269A|PTPRS_ENST00000588552.1_5'UTR Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 282 Ig-like C2-type 3. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TCAGGTCCTCGGCCCCCTGCA 0.627000 11 29 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5427897 5427897 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:5427897C>T ENST00000399537.4 - 5 1906 c.1558G>A c.(1558-1560)Gcc>Acc p.A520T TNRC18_ENST00000430969.1_Missense_Mutation_p.A520T O15417 TNC18_HUMAN trinucleotide repeat containing 18 520 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) ATCTGCGTGGCGGCGAAGTTG 0.701000 9 18 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935694 30935694 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:30935694C>T ENST00000355537.3 + 2 1372 c.1225C>T c.(1225-1227)Ccc>Tcc p.P409S NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCCCAGCGACCCCGAGGTGCC 0.627000 33 37 0 0 1 0 0 WRAP73 49856 broad.mit.edu 37 1 3555346 3555346 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:3555346G>C ENST00000378322.3 - 4 438 c.380C>G c.(379-381)tCt>tGt p.S127C WRAP73_ENST00000270708.7_Missense_Mutation_p.S127C Q9P2S5 WRP73_HUMAN WD repeat containing, antisense to TP73 127 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 TTTGATGTAAGACACGGATTT 0.478000 19 63 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 757862 757862 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:757862G>A ENST00000215582.6 + 2 1019 c.916G>A c.(916-918)Gac>Aac p.D306N NM_173481.2 NP_775752.1 mitotic spindle positioning GCGTGAGGCAGACCTGCGAGA 0.662000 12 38 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902159 1902159 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:1902159C>T ENST00000358771.4 + 3 707 c.555C>T c.(553-555)ttC>ttT p.F185F SIRPA_ENST00000356025.3_Silent_p.F185F|SIRPA_ENST00000400068.3_Silent_p.F185F NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 185 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) TGAAATGGTTCAAAAATGGGA 0.587000 33 60 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39162592 39162592 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:39162592C>T ENST00000301819.6 + 9 1206 c.1029C>T c.(1027-1029)ctC>ctT p.L343L TTC21A_ENST00000431162.2_Silent_p.L343L|TTC21A_ENST00000440121.1_Silent_p.L294L NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 343 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TGGGCTATCTCTTCATCCTGA 0.512000 24 70 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49626342 49626342 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:49626342C>G ENST00000371571.4 - 2 819 c.534G>C c.(532-534)gaG>gaC p.E178D RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Missense_Mutation_p.E178D NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 178 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCTCCACCATCTCCGCGAACT 0.701000 5 33 0 0 1 0 0 OPN4 94233 broad.mit.edu 37 10 88419770 88419770 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:88419770C>T ENST00000372071.2 + 7 1179 c.952C>T c.(952-954)Ctc>Ttc p.L318F OPN4_ENST00000241891.5_Missense_Mutation_p.L307F NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 307 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 CCTCTTCGTGCTCTCCTGGGC 0.627000 16 35 0 0 1 0 0 YES1 7525 broad.mit.edu 37 18 756621 756621 + Silent SNP C C A rs138908805 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr18:756621C>A ENST00000584307.1 - 2 377 c.207G>T c.(205-207)acG>acT p.T69T YES1_ENST00000577961.1_Silent_p.T74T|YES1_ENST00000314574.4_Silent_p.T69T|YES1_ENST00000577611.1_5'UTR P07947 YES_HUMAN v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 69 blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) CTCCAAAAGGCGTTACCCCTG 0.443000 26 57 9.39395e-14 1.00493e-13 1 1 0 PCDHA9 9752 broad.mit.edu 37 5 140389347 140389347 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:140389347C>T ENST00000532602.1 + 4 3711 c.2678C>T c.(2677-2679)tCt>tTt p.S893F PCDHA11_ENST00000398640.2_Missense_Mutation_p.S892F|PCDHA3_ENST00000522353.2_Missense_Mutation_p.S893F|PCDHA7_ENST00000525929.1_Missense_Mutation_p.S880F|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Missense_Mutation_p.S891F|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S629F|PCDHA6_ENST00000529310.1_Missense_Mutation_p.S893F|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S628F|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Missense_Mutation_p.S890F|PCDHA10_ENST00000307360.5_Missense_Mutation_p.S891F|PCDHA13_ENST00000289272.2_Missense_Mutation_p.S893F|PCDHA5_ENST00000529859.1_Missense_Mutation_p.S879F|PCDHA12_ENST00000398631.2_Missense_Mutation_p.S884F|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S629F|PCDHA8_ENST00000531613.1_Missense_Mutation_p.S893F|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.S906F|PCDHA1_ENST00000504120.2_Missense_Mutation_p.S893F|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.S950F NM_031857.1 NP_114063.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCCAGGATCTCCTGCAATC 0.493000 20 49 0 0 1 0 0 LDLRAP1 26119 broad.mit.edu 37 1 25880456 25880456 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:25880456G>A ENST00000374338.4 + 2 251 c.132G>A c.(130-132)gaG>gaA p.E44E LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 44 PID. amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 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;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) CGCTGCTGGAGGGGATGCTGT 0.642000 9 24 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52418835 52418835 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:52418835T>C ENST00000420323.2 + 53 8617 c.8356T>C c.(8356-8358)Tcc>Ccc p.S2786P NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2786 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCAGTCGGTGTCCAAGAAGTG 0.572000 OREG0015612 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 12 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175565132 175565132 + Silent SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:175565132T>A ENST00000274093.3 - 10 1702 c.1200A>T c.(1198-1200)ccA>ccT p.P400P GLRA3_ENST00000340217.5_Silent_p.P385P NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 400 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TGGGGCCCTTTGGAGTCATGC 0.483000 30 68 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55681567 55681567 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:55681567G>A ENST00000344514.1 - 1 491 c.492C>T c.(490-492)ttC>ttT p.F164F NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGCATAGGCGGAAGGCCAGTG 0.428000 7 35 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24533476 24533476 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:24533476C>A ENST00000342740.5 + 32 3155 c.3001C>A c.(3001-3003)Cag>Aag p.Q1001K LRRC16B_ENST00000334420.7_Missense_Mutation_p.Q97K NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1001 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) TGGGACTCGTCAGGAGAATGG 0.577000 10 10 0.00621372 0.00627871 1 1 0 ZNF791 163049 broad.mit.edu 37 19 12738585 12738585 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:12738585C>T ENST00000446165.1 + 3 343 c.181C>T c.(181-183)Cag>Tag p.Q61* ZNF791_ENST00000458122.3_Missense_Mutation_p.A49V|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000343325.4_Missense_Mutation_p.A81V|ZNF791_ENST00000540038.1_5'UTR Q3KP31 ZN791_HUMAN zinc finger protein 791 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 AGTCAATGTGCAGAAAACTTC 0.413000 23 114 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42541690 42541690 + Nonsense_Mutation SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:42541690T>A ENST00000372899.1 + 2 555 c.297T>A c.(295-297)tgT>tgA p.C99* UBR2_ENST00000372903.2_Nonsense_Mutation_p.C99*|UBR2_ENST00000372901.1_Nonsense_Mutation_p.C99* NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 99 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CTCATCTTTGTGGTCGTGTTT 0.368000 15 63 0 0 1 0 0 NDUFV3 4731 broad.mit.edu 37 21 44323351 44323351 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr21:44323351T>C ENST00000354250.2 + 3 298 c.229T>C c.(229-231)Tct>Cct p.S77P NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.4_Intron NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) AGCTGAATTGTCTAAAAACTT 0.478000 24 74 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84300933 84300933 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:84300933C>A ENST00000428679.2 - 22 2604 c.2011G>T c.(2011-2013)Gct>Tct p.A671S SNAP91_ENST00000521743.1_Missense_Mutation_p.A671S|SNAP91_ENST00000195649.6_Missense_Mutation_p.A671S|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520302.1_Missense_Mutation_p.A641S|SNAP91_ENST00000369694.2_Missense_Mutation_p.A671S|SNAP91_ENST00000439399.2_Missense_Mutation_p.A671S|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.A671S O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 671 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TAATTACCAGCTAGTAGGTCT 0.348000 11 48 3.86212e-05 3.98165e-05 1 1 0 AMH 268 broad.mit.edu 37 19 2249452 2249452 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:2249452G>A ENST00000221496.4 + 1 143 c.121G>A c.(121-123)Gaa>Aaa p.E41K NM_000479.3 NP_000470 P03971 MIS_HUMAN anti-Mullerian hormone cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination extracellular space growth factor activity|hormone activity lung(2) 2 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) CATCTTCCGAGAAGACTTGGA 0.677000 Persistant Mullerian Duct Syndrome (type I and II) 3 9 0 0 1 0 0 TTC38 55020 broad.mit.edu 37 22 46668301 46668301 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:46668301G>A ENST00000381031.3 + 3 257 c.181G>A c.(181-183)Gat>Aat p.D61N TTC38_ENST00000445282.2_Missense_Mutation_p.D61N NM_017931.2 NP_060401 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 61 binding endometrium(4)|large_intestine(3)|lung(4)|ovary(1) 12 CAAAGCAGCAGATCCAACCTT 0.522000 14 26 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 192992879 192992879 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:192992879G>C ENST00000342358.4 - 30 3726 c.3609C>G c.(3607-3609)ctC>ctG p.L1203L ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 1203 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CTCCCAATTTGAGTTTTCTTT 0.433000 30 187 0 0 1 0 0 ST13 6767 broad.mit.edu 37 22 41246881 41246881 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:41246881C>G ENST00000216218.3 - 2 595 c.114G>C c.(112-114)atG>atC p.M38I NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 38 M -> I (in Ref. 1; AAB38382). protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 CTTTACCACCCATGCTTGAAG 0.299000 10 27 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52284553 52284553 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:52284553C>T ENST00000356297.4 - 19 3881 c.3781G>A c.(3781-3783)Ggt>Agt p.G1261S PXDNL_ENST00000543296.1_Missense_Mutation_p.G1261S NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1261 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATGCTGTCACCATTGTCACAA 0.527000 10 15 0 0 1 0 0 MGME1 92667 broad.mit.edu 37 20 17950511 17950511 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:17950511G>A ENST00000377710.5 + 2 297 c.9G>A c.(7-9)atG>atA p.M3I MGME1_ENST00000377709.1_Missense_Mutation_p.M3I|MGME1_ENST00000377704.4_Missense_Mutation_p.M3I NM_052865.2 NP_443097.1 mitochondrial genome maintenance exonuclease 1 GAATGAAGATGAAGTTATTTC 0.413000 12 67 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154886342 154886342 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:154886342C>G ENST00000460393.1 + 19 1962 c.1842C>G c.(1840-1842)aaC>aaG p.N614K MME_ENST00000493237.1_Missense_Mutation_p.N614K|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Missense_Mutation_p.N614K|MME_ENST00000360490.2_Missense_Mutation_p.N614K|MME_ENST00000462745.1_Missense_Mutation_p.N614K NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 614 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CTGCAAGTAACTTTAAGGAGC 0.408000 40 56 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120436675 120436675 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:120436675G>T ENST00000369400.1 - 1 2443 c.2285C>A c.(2284-2286)tCt>tAt p.S762Y NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 762 5 X 9 AA approximate repeats. 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) TTTTGCTTTAGATTCTTCCTG 0.358000 30 85 3.1745e-13 3.39222e-13 1 1 0 PPRC1 23082 broad.mit.edu 37 10 103899303 103899303 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:103899303G>A ENST00000278070.2 + 5 1077 c.1038G>A c.(1036-1038)ctG>ctA p.L346L PPRC1_ENST00000413464.2_Silent_p.L346L NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 346 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) GCGTAGTGCTGGAGATTGTGG 0.602000 36 123 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53422409 53422409 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:53422409T>C ENST00000377942.3 - 1 366 c.163A>G c.(163-165)Atg>Gtg p.M55V PCDH8_ENST00000338862.4_Missense_Mutation_p.M55V NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 55 Cadherin 1. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GATACTTTCATATGCAGGTCC 0.622000 35 78 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80085171 80085171 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:80085171G>A ENST00000466387.1 + 8 1055 c.331G>A c.(331-333)Gca>Aca p.A111T CTNNA2_ENST00000541047.1_Missense_Mutation_p.A111T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A145T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A111T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A111T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A111T P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 111 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CTCCGAGTTTGCAGATGACCC 0.592000 33 189 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34140554 34140554 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:34140554A>G ENST00000389232.4 + 94 13630 c.13560A>G c.(13558-13560)ctA>ctG p.L4520L RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Silent_p.L4515L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4520 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) TTGATGGCCTATATATCACCG 0.502000 30 32 0 0 1 0 0 FAM189A2 9413 broad.mit.edu 37 9 72003170 72003170 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:72003170C>T ENST00000257515.8 + 10 1373 c.953C>T c.(952-954)tCg>tTg p.S318L FAM189A2_ENST00000455972.1_Missense_Mutation_p.S318L|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Missense_Mutation_p.S153L|FAM189A2_ENST00000377216.3_Missense_Mutation_p.S105L NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 318 integral to membrane p.S318L(1) endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 TCTAGAGCTTCGCGATGCAGA 0.542000 26 45 0 0 1 0 0 ETF1 2107 broad.mit.edu 37 5 137846293 137846293 + Silent SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:137846293T>A ENST00000499810.2 - 9 1393 c.945A>T c.(943-945)ccA>ccT p.P315P ETF1_ENST00000503014.1_Silent_p.P334P|ETF1_ENST00000360541.5_Silent_p.P348P NM_001256302.1|NM_001282185.1 NP_001243231.1|NP_001269114.1 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 348 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTTCTTGCTCTGGAGTTAGAT 0.368000 12 26 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067312 18067312 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:18067312T>C ENST00000506618.2 - 1 174 c.94A>G c.(94-96)Act>Gct p.T32A NM_175886.2 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 32 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) AATTTCTTAGTCACCACCTTG 0.522000 41 149 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222832114 222832114 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:222832114C>T ENST00000344922.5 + 19 4683 c.4658C>T c.(4657-4659)tCa>tTa p.S1553L MIA3_ENST00000344441.6_Missense_Mutation_p.S1553L|MIA3_ENST00000340535.7_Missense_Mutation_p.S431L|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1553 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) CACAGGCTGTCAGCTGCAGAT 0.423000 55 72 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69726488 69726488 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:69726488G>A ENST00000349945.1 + 14 4030 c.2478G>A c.(2476-2478)caG>caA p.Q826Q NFAT5_ENST00000354436.2_Silent_p.Q902Q|NFAT5_ENST00000393742.2_Silent_p.Q826Q|NFAT5_ENST00000566899.1_Silent_p.Q826Q|NFAT5_ENST00000432919.1_Silent_p.Q920Q|NFAT5_ENST00000567239.1_Silent_p.Q919Q NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 902 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AGATGCAACAGAGTATCTGCC 0.478000 27 16 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7625272 7625272 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:7625272C>T ENST00000340080.4 + 7 2075 c.1654C>T c.(1654-1656)Ctg>Ttg p.L552L MIOS_ENST00000405785.1_Silent_p.L552L NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 552 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGCAGGAGATCTGAATCTCAA 0.368000 17 49 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612488 20612488 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:20612488G>A ENST00000333629.1 + 1 594 c.594G>A c.(592-594)ctG>ctA p.L198L NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGGAGCTTCTGATGGTCTCCA 0.537000 31 94 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18329157 18329157 + Missense_Mutation SNP G G A rs148755672 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:18329157G>A ENST00000355502.3 - 14 2088 c.1217C>T c.(1216-1218)aCg>aTg p.T406M PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000597297.1_Missense_Mutation_p.T176M|PDE4C_ENST00000447275.3_Missense_Mutation_p.T300M|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.T175M|PDE4C_ENST00000262805.12_Missense_Mutation_p.T374M|PDE4C_ENST00000594617.3_Missense_Mutation_p.T406M|PDE4C_ENST00000594465.3_Missense_Mutation_p.T406M Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 406 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.T406M(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GAGGGCGGGCGTAGCCAGCAG 0.667000 67 74 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33173947 33173947 + Missense_Mutation SNP A A C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:33173947A>C ENST00000404816.2 + 2 853 c.500A>C c.(499-501)aAt>aCt p.N167T LTBP1_ENST00000354476.3_Missense_Mutation_p.N167T Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 167 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TTCAGGGTCAATGTCTGTGGA 0.567000 20 73 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98270475 98270475 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:98270475C>T ENST00000331920.6 - 1 468 c.169G>A c.(169-171)Gac>Aac p.D57N PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000430669.2_Intron NM_000264.3 NP_000255.2 Q13635 PTC1_HUMAN patched 1 57 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AAGGCGGCGTCGCAGTAGCTG 0.682000 9 31 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78350089 78350089 + Missense_Mutation SNP C C T rs145775047 byFrequency TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:78350089C>T ENST00000255189.3 - 4 486 c.458G>A c.(457-459)cGg>cAg p.R153Q DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 153 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CCAGCCAGTCCGAGTCATTTG 0.408000 14 15 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44929132 44929132 + Silent SNP C C T rs35467614 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:44929132C>T ENST00000377967.4 + 17 2273 c.2232C>T c.(2230-2232)gtC>gtT p.V744V KDM6A_ENST00000536777.1_Silent_p.V699V|KDM6A_ENST00000543216.1_Silent_p.V665V|KDM6A_ENST00000382899.4_Silent_p.V751V NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 744 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CTGCCAGTGTCGAGGGACTTC 0.478000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 15 21 0 0 1 0 0 PRPF3 9129 broad.mit.edu 37 1 150300860 150300860 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:150300860G>T ENST00000324862.6 + 4 523 c.358G>T c.(358-360)Gaa>Taa p.E120* PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Intron NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 120 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) TGAGGAGGTGGAAGAAGAGCC 0.498000 36 417 2.75727e-19 2.97268e-19 1 1 0 PYDC1 260434 broad.mit.edu 37 16 31228167 31228167 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:31228167G>C ENST00000302964.3 - 1 513 c.183C>G c.(181-183)taC>taG p.Y61* TRIM72_ENST00000322122.3_Intron NM_152901.2 NP_690865.1 Q8WXC3 PYDC1_HUMAN PYD (pyrin domain) containing 1 61 DAPIN. innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex|nucleus cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 CGTAGTCCTCGTAGTAGGAGG 0.692000 14 84 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100654246 100654246 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:100654246A>G ENST00000358544.2 + 34 5614 c.5503A>G c.(5503-5505)Att>Gtt p.I1835V VPS13B_ENST00000357162.2_Missense_Mutation_p.I1810V|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1835 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCTAAATTTTATTCCCTTTGA 0.378000 19 37 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198697495 198697495 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:198697495C>T ENST00000367376.2 + 16 1912 c.1741C>T c.(1741-1743)Ctg>Ttg p.L581L PTPRC_ENST00000442510.2_Silent_p.L583L|PTPRC_ENST00000594404.1_Silent_p.L420L|PTPRC_ENST00000348564.6_Silent_p.L422L|PTPRC_ENST00000352140.3_Silent_p.L533L NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 581 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GATAGCATTTCTGGCATTTCT 0.328000 7 60 0 0 1 0 0 RAD9A 5883 broad.mit.edu 37 11 67160162 67160162 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:67160162A>G ENST00000307980.2 + 3 236 c.143A>G c.(142-144)tAt>tGt p.Y48C NM_001243224.1|NM_004584.2 NP_001230153.1|NP_004575.1 Q99638 RAD9A_HUMAN RAD9 homolog A (S. pombe) 48 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) CGCTCTGCCTATGCCTGCTTT 0.637000 Other conserved DNA damage response genes 16 59 0 0 1 0 0 ACTRT3 84517 broad.mit.edu 37 3 169487204 169487204 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:169487204G>A ENST00000330368.2 - 1 479 c.105C>T c.(103-105)atC>atT p.I35I NM_032487.4 NP_115876.3 Q9BYD9 ARPM1_HUMAN actin-related protein T3 35 cytoplasm|cytoskeleton TGGCGCGGCCGATAATGTTCG 0.652000 9 35 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10699977 10699977 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:10699977G>A ENST00000377022.3 - 21 4619 c.4302C>T c.(4300-4302)ttC>ttT p.F1434F RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.2 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1434 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CGAAGCGCCGGAAGCCCTCCA 0.612000 6 24 0 0 1 0 0 C1orf111 284680 broad.mit.edu 37 1 162345158 162345158 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:162345158T>C ENST00000367935.5 - 2 218 c.139A>G c.(139-141)Agc>Ggc p.S47G RP11-565P22.6_ENST00000431696.1_Intron NM_182581.3 NP_872387.2 Q5T0L3 CA111_HUMAN chromosome 1 open reading frame 111 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) TGAGCTGGGCTGGATGCCTCA 0.547000 29 69 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24043464 24043464 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:24043464G>T ENST00000303531.7 + 4 448 c.296G>T c.(295-297)cGc>cTc p.R99L PRKCB_ENST00000321728.7_Missense_Mutation_p.R99L NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 99 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CAGGACCCCCGCAGCAAACAC 0.532000 14 82 9.31168e-06 9.64103e-06 1 1 0 TACC2 10579 broad.mit.edu 37 10 123843700 123843700 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:123843700C>T ENST00000369005.1 + 4 2025 c.1685C>T c.(1684-1686)cCa>cTa p.P562L TACC2_ENST00000515273.1_Missense_Mutation_p.P562L|TACC2_ENST00000515603.1_Missense_Mutation_p.P562L|TACC2_ENST00000334433.3_Missense_Mutation_p.P562L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P562L|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 562 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TCCACAAGCCCAGCCGTGGCT 0.607000 25 51 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175254 159175254 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:159175254G>C ENST00000537147.1 + 3 868 c.25G>C c.(25-27)Gag>Cag p.E9Q DARC_ENST00000368121.2_Missense_Mutation_p.E11Q|DARC_ENST00000368122.2_Missense_Mutation_p.E9Q|CTA-134P22.2_ENST00000609696.1_RNA Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 9 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CCTCCAGGCGGAGCTCTCCCC 0.542000 16 257 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43464907 43464907 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:43464907G>A ENST00000039989.4 + 17 2298 c.2284G>A c.(2284-2286)Gag>Aag p.E762K TTC17_ENST00000299240.6_Missense_Mutation_p.E819K|TTC17_ENST00000526774.1_3'UTR NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 762 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TGGTTCTGATGAGATGGAGAA 0.458000 21 41 0 0 1 0 0 PANK3 79646 broad.mit.edu 37 5 167993205 167993205 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:167993205C>A ENST00000239231.6 - 3 764 c.448G>T c.(448-450)Gac>Tac p.D150Y NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 150 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) CTGACAGAGTCTATATACAGC 0.408000 32 60 9.78306e-22 1.05592e-21 1 1 0 AFAP1 60312 broad.mit.edu 37 4 7817744 7817744 + Splice_Site SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:7817744C>T ENST00000420658.1 - 8 1177 c.e8+1 AFAP1_ENST00000358461.2_Splice_Site|AFAP1_ENST00000382543.3_Splice_Site|AFAP1_ENST00000360265.4_Splice_Site NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GCAGAACTCACCTTGCTCCTT 0.378000 17 53 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179417077 179417077 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:179417077C>T ENST00000589042.1 - 335 90774 c.90550G>A c.(90550-90552)Gaa>Aaa p.E30184K TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21119K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21244K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E21311K|TTN_ENST00000591111.1_Missense_Mutation_p.E28543K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27616K|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28543 Fibronectin type-III 120. 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) ATTTTGTTTTCAGTTTTACTG 0.378000 15 20 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72956328 72956328 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:72956328G>A ENST00000425042.2 - 7 821 c.744C>T c.(742-744)ctC>ctT p.L248L NM_030630.2 NP_085133.1 HID1 domain containing GGGAGGTGAAGAGGGGCAGGG 0.642000 10 18 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42680347 42680347 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:42680347A>G ENST00000232978.8 + 13 3339 c.3151A>G c.(3151-3153)Ata>Gta p.I1051V RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1051 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) CAATGAAACCATAAAAGATAA 0.358000 24 24 0 0 1 0 0 DPYSL4 10570 broad.mit.edu 37 10 134014488 134014488 + Splice_Site SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:134014488G>C ENST00000338492.4 + 10 1274 c.e10+1 DPYSL4_ENST00000368629.1_Splice_Site|DPYSL4_ENST00000368627.1_Splice_Site NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GAAATGTGTGGTGAGCACAGG 0.632000 14 14 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74008085 74008085 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:74008085C>T ENST00000358602.4 - 13 2219 c.2103G>A c.(2101-2103)ttG>ttA p.L701L ANKRD17_ENST00000330838.6_Silent_p.L701L|ANKRD17_ENST00000509867.2_Silent_p.L588L|ANKRD17_ENST00000514252.1_5'UTR NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 701 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTGCTTCTATCAACATAGTTG 0.378000 25 40 0 0 1 0 0 SLC38A3 10991 broad.mit.edu 37 3 50252859 50252859 + RNA SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:50252859T>C ENST00000420502.1 + 0 494 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) AGCTACTCCATCCACCTGCTA 0.592000 33 63 0 0 1 0 0 GDI2 2665 broad.mit.edu 37 10 5827169 5827169 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:5827169A>G ENST00000380191.4 - 6 945 c.655T>C c.(655-657)Tat>Cat p.Y219H GDI2_ENST00000380181.3_Missense_Mutation_p.Y174H|GDI2_ENST00000380132.4_Missense_Mutation_p.Y223H NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 219 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 CTTTTGCCATATCTTGCCAAA 0.393000 22 60 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32542984 32542984 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:32542984C>T ENST00000360538.2 - 3 1655 c.1539G>A c.(1537-1539)gtG>gtA p.V513V TOPORS_ENST00000379858.1_Silent_p.V448V NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 513 Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) CTTGTGTCTTCACTGTCTCCA 0.418000 17 128 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16259558 16259558 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:16259558G>A ENST00000205557.7 - 23 3257 c.3228C>T c.(3226-3228)gtC>gtT p.V1076V NM_001171.5 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1076 ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCACCAGGCTGACCTCCAGGA 0.587000 17 117 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71592714 71592714 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:71592714G>A ENST00000409544.1 + 6 2503 c.1873G>A c.(1873-1875)Gct>Act p.A625T ZNF638_ENST00000377802.2_Missense_Mutation_p.A625T|ZNF638_ENST00000264447.4_Missense_Mutation_p.A625T|ZNF638_ENST00000355812.3_Missense_Mutation_p.A625T|ZNF638_ENST00000410075.1_3'UTR NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 625 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 ACCTACAAGCGCTACAAAGAG 0.373000 17 53 0 0 1 0 0 SSBP3 23648 broad.mit.edu 37 1 54708955 54708955 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:54708955C>T ENST00000371320.3 - 10 1079 c.669G>A c.(667-669)atG>atA p.M223I SSBP3_ENST00000357475.4_Missense_Mutation_p.M203I|SSBP3_ENST00000371319.3_Missense_Mutation_p.M196I|SSBP3_ENST00000417664.2_Missense_Mutation_p.M113I|SSBP3_ENST00000326956.7_5'UTR NM_145716.2 NP_663768.1 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 223 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 11 GTGGTGGTCTCATGCCGCTGC 0.567000 41 109 0 0 1 0 0 ZMYM5 9205 broad.mit.edu 37 13 20398869 20398869 + Missense_Mutation SNP A A C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:20398869A>C ENST00000337963.4 - 8 2022 c.1758T>G c.(1756-1758)gaT>gaG p.D586E NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 586 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) aaaacacagaatcttttgagg 0.328000 7 6 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55524293 55524293 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:55524293G>A ENST00000305377.5 + 1 829 c.741G>A c.(739-741)gtG>gtA p.V247V NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 TGTATATTGTGTCCACAGTTC 0.383000 37 51 0 0 1 0 0 SESN1 27244 broad.mit.edu 37 6 109311966 109311966 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:109311966C>T ENST00000436639.2 - 8 2051 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K SESN1_ENST00000302071.2_Missense_Mutation_p.E311K|SESN1_ENST00000356644.7_Missense_Mutation_p.E377K NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 377 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) TGAAATTTTTCATCAATCAAC 0.353000 8 43 0 0 1 0 0 RAB8A 4218 broad.mit.edu 37 19 16222778 16222778 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:16222778T>C ENST00000300935.3 + 1 340 c.67T>C c.(67-69)Tgt>Cgt p.C23R RAB8A_ENST00000588105.1_3'UTR|RAB8A_ENST00000586682.1_Missense_Mutation_p.C23R NM_005370.4 NP_005361.2 P61006 RAB8A_HUMAN RAB8A, member RAS oncogene family 23 cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane GTP binding|protein binding endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 8 GGGGAAGACCTGTGTCCTGTT 0.617000 45 167 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62254954 62254954 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:62254954A>G ENST00000261517.5 - 33 3502 c.3429T>C c.(3427-3429)caT>caC p.H1143H VPS13C_ENST00000395898.3_Silent_p.H1100H|VPS13C_ENST00000395896.4_Silent_p.H1143H|VPS13C_ENST00000249837.3_Silent_p.H1100H NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1143 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CTACTTTCTTATGAACTGTCT 0.313000 7 11 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108628458 108628458 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:108628458C>T ENST00000218006.2 - 16 3301 c.3010G>A c.(3010-3012)Gga>Aga p.G1004R NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1004 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.G1004R(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 ACAGTGTCTCCAAACAAGCAG 0.502000 24 35 0 0 1 0 0 ACO1 48 broad.mit.edu 37 9 32425899 32425899 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:32425899G>A ENST00000309951.6 + 11 1390 c.1252G>A c.(1252-1254)Gat>Aat p.D418N ACO1_ENST00000541043.1_Missense_Mutation_p.D319N|ACO1_ENST00000379923.1_Missense_Mutation_p.D418N NM_002197.2 NP_002188.1 P21399 ACOC_HUMAN aconitase 1, soluble citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) CTTTATCTATGATAACACTGA 0.378000 18 85 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75269218 75269218 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:75269218C>G ENST00000546196.1 - 5 3144 c.1492G>C c.(1492-1494)Ggc>Cgc p.G498R BCAR1_ENST00000420641.3_Missense_Mutation_p.G545R|BCAR1_ENST00000393422.2_Missense_Mutation_p.G545R|BCAR1_ENST00000393420.6_Missense_Mutation_p.G545R|BCAR1_ENST00000418647.3_Missense_Mutation_p.G573R|BCAR1_ENST00000535626.2_Missense_Mutation_p.G379R|BCAR1_ENST00000162330.5_Missense_Mutation_p.G527R|BCAR1_ENST00000538440.2_Missense_Mutation_p.G527R|BCAR1_ENST00000542031.2_Missense_Mutation_p.G525R|BCAR1_ENST00000566982.1_5'UTR P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 527 Ser-rich. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) GCAGCATTGCCCACCGCGCTG 0.647000 47 16 0 0 1 0 0 SEPT4 5414 broad.mit.edu 37 17 56598376 56598376 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:56598376C>T ENST00000457347.2 - 11 1449 c.1305G>A c.(1303-1305)gtG>gtA p.V435V SEPT4_ENST00000393086.1_Silent_p.V401V|SEPT4_ENST00000317268.3_Silent_p.V420V|SEPT4_ENST00000317256.6_Silent_p.V401V|SEPT4_ENST00000583114.1_Silent_p.V273V|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000579371.1_Silent_p.V321V|SEPT4_ENST00000580844.1_Silent_p.V321V|SEPT4_ENST00000412945.3_Silent_p.V412V NM_001256782.1 NP_001243711.1 O43236 SEPT4_HUMAN septin 4 420 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCGTTCCTTCACCACCAGGC 0.547000 OREG0024614 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 94 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91113338 91113338 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:91113338T>C ENST00000357056.2 - 14 1668 c.1547A>G c.(1546-1548)cAa>cGa p.Q516R TTC7B_ENST00000328459.6_Missense_Mutation_p.Q516R|RP11-1078H9.5_ENST00000557007.1_RNA Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 516 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) GAAAGCTGCTTGGTGATCTGT 0.463000 38 21 0 0 1 0 0 RBM43 375287 broad.mit.edu 37 2 152109295 152109295 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:152109295G>A ENST00000331426.5 - 3 440 c.289C>T c.(289-291)Ctc>Ttc p.L97F NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 97 RRM. nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) GAGACTCTGAGAGAGACTGTG 0.428000 15 69 0 0 1 0 0 ALG1L2 644974 broad.mit.edu 37 3 129813313 129813313 + RNA SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:129813313C>G ENST00000507643.1 + 0 456 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups ACATCCAGGTCTGCATCCCCT 0.612000 7 55 0 0 1 0 0 HRH4 59340 broad.mit.edu 37 18 22040777 22040777 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr18:22040777A>G ENST00000256906.4 + 1 185 c.85A>G c.(85-87)Ata>Gta p.I29V HRH4_ENST00000426880.2_Missense_Mutation_p.I29V NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 29 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) AGCTTTTGCTATAATGCTAGG 0.338000 40 25 0 0 1 0 0 LAMTOR5 10542 broad.mit.edu 37 1 110948964 110948964 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:110948964C>T ENST00000474861.2 - 2 676 c.70G>A c.(70-72)Gat>Aat p.D24N LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5_ENST00000602318.1_Missense_Mutation_p.D25N|LAMTOR5_ENST00000602858.1_Missense_Mutation_p.D13N|LAMTOR5_ENST00000483260.1_Missense_Mutation_p.D24N|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.D107N late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 CCTTGTGAATCTGTGCACAGG 0.383000 12 22 0 0 1 0 0 KIAA1586 57691 broad.mit.edu 37 6 56919288 56919288 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:56919288A>G ENST00000370733.4 + 4 2198 c.1991A>G c.(1990-1992)tAt>tGt p.Y664C KIAA1586_ENST00000545356.1_Missense_Mutation_p.Y637C NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 664 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATTTTAAAATATGAAGTTGAT 0.269000 5 24 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180904393 180904393 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:180904393G>T ENST00000367588.4 + 5 1403 c.1348G>T c.(1348-1350)Gtg>Ttg p.V450L KIAA1614_ENST00000367587.1_Missense_Mutation_p.V71L NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 450 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GCCGTCGCACGTGCGCTTTGA 0.701000 4 6 0.014758 0.0148657 1 1 0 NOTCH2 4853 broad.mit.edu 37 1 120466574 120466574 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:120466574G>A ENST00000256646.2 - 26 4764 c.4545C>T c.(4543-4545)gaC>gaT p.D1515D NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1515 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CACAGTGGTTGTCTTTGAAGT 0.502000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 11 22 0 0 1 0 0 PKM 5315 broad.mit.edu 37 15 72494883 72494883 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:72494883C>G ENST00000335181.5 - 9 1322 c.1219G>C c.(1219-1221)Gac>Cac p.D407H PKM_ENST00000449901.2_Missense_Mutation_p.D392H|PKM_ENST00000565154.1_Intron|PKM_ENST00000565184.1_Intron|PKM_ENST00000319622.6_Intron|PKM_ENST00000389093.3_Intron|PKM_ENST00000568459.1_Intron|PKM_ENST00000568883.1_Intron NM_002654.4 NP_002645.3 pyruvate kinase, muscle endometrium(1)|lung(7) 8 TCTGTGGGGTCGCTGGTAATG 0.617000 8 14 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61296285 61296285 + Splice_Site SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:61296285G>A ENST00000217159.1 + 6 1326 c.e6-1 SLCO4A1_ENST00000370507.1_Splice_Site|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) cctctgcccAGCTCCATCTGG 0.642000 15 30 0 0 1 0 0 RAMP1 10267 broad.mit.edu 37 2 238785966 238785966 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:238785966C>T ENST00000254661.4 + 2 285 c.153C>T c.(151-153)gtC>gtT p.V51V RAMP1_ENST00000404910.2_Silent_p.V29V|RAMP1_ENST00000403885.1_Silent_p.V29V|RAMP1_ENST00000409726.1_Silent_p.V29V NM_005855.2 NP_005846.1 O60894 RAMP1_HUMAN receptor (G protein-coupled) activity modifying protein 1 51 intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane protein transporter activity kidney(1)|large_intestine(1)|lung(2) 4 Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288) Pramlintide(DB01278) TGGAGGCCGTCGGGGAGACGC 0.657000 22 27 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 192125872 192125872 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:192125872C>T ENST00000454309.2 - 1 966 c.141G>A c.(139-141)ggG>ggA p.G47G FGF12_ENST00000430714.1_Intron|FGF12_ENST00000445105.2_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000450716.1_Intron NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 47 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TGCTGAACACCCCGAGGACGT 0.692000 37 186 0 0 1 0 0 NDEL1 81565 broad.mit.edu 37 17 8350201 8350201 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:8350201G>A ENST00000334527.7 + 4 567 c.370G>A c.(370-372)Gac>Aac p.D124N NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Missense_Mutation_p.D124N|NDEL1_ENST00000402554.3_Missense_Mutation_p.D124N|NDEL1_ENST00000299734.7_Missense_Mutation_p.D124N NM_030808.4 NP_110435.1 Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 124 Interaction with KATNB1 (By similarity).|Required for interaction with PAFAH1B1.|Self-association (By similarity). chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle large_intestine(6)|lung(4)|skin(3) 13 GGCCAACGACGACCTGGAGCG 0.428000 3 20 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10222154 10222154 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:10222154C>T ENST00000418404.3 - 26 3854 c.3691G>A c.(3691-3693)Gag>Aag p.E1231K MYH13_ENST00000252172.4_Missense_Mutation_p.E1231K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1231 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCGTCAATCTCCATCTTCAGC 0.562000 25 72 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204413285 204413285 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:204413285C>T ENST00000367187.3 - 19 3334 c.2778G>A c.(2776-2778)ctG>ctA p.L926L PIK3C2B_ENST00000424712.2_Silent_p.L898L NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 926 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) ATTCATACTTCAGGGCCTGTT 0.453000 7 45 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925981 54925981 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:54925981A>G ENST00000293373.6 + 26 2888 c.2809A>G c.(2809-2811)Atg>Gtg p.M937V NCKAP1L_ENST00000545638.2_Missense_Mutation_p.M887V NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 937 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CCCATTTCTTATGGGTCCCAT 0.408000 19 15 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71932685 71932685 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:71932685C>T ENST00000373545.3 - 2 611 c.173G>A c.(172-174)gGc>gAc p.G58D PHKA1_ENST00000541944.1_Missense_Mutation_p.G58D|PHKA1_ENST00000373539.3_Missense_Mutation_p.G58D|PHKA1_ENST00000339490.3_Missense_Mutation_p.G58D|PHKA1_ENST00000373542.4_Missense_Mutation_p.G58D P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 58 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) ATAGGCCAGGCCCAAACCCCA 0.478000 8 25 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87965030 87965030 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:87965030G>C ENST00000369577.3 + 8 1726 c.1683G>C c.(1681-1683)caG>caC p.Q561H ZNF292_ENST00000339907.4_Missense_Mutation_p.Q556H NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GACATGCTCAGAAACATTACA 0.368000 11 17 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133682304 133682304 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:133682304A>T ENST00000253861.4 + 15 2295 c.2266A>T c.(2266-2268)Atc>Ttc p.I756F EXOC4_ENST00000541309.1_Missense_Mutation_p.I44F|EXOC4_ENST00000539845.1_Missense_Mutation_p.I655F|EXOC4_ENST00000545148.1_Missense_Mutation_p.I366F NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 756 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GTCAGAGCAGATCATGCAGAC 0.483000 12 21 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55340025 55340025 + Missense_Mutation SNP T T G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:55340025T>G ENST00000314634.3 + 1 422 c.422T>G c.(421-423)gTt>gGt p.V141G NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) GTCTGTGGTGTTTTGATGGCT 0.502000 47 111 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7863022 7863022 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:7863022C>T ENST00000264669.5 - 4 1749 c.1613G>A c.(1612-1614)aGa>aAa p.R538K FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 538 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTTCACATATCTATAAAGCTG 0.378000 87 109 0 0 1 0 0 TAF11 6882 broad.mit.edu 37 6 34855677 34855677 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:34855677C>T ENST00000361288.4 - 1 189 c.58G>A c.(58-60)Gag>Aag p.E20K TAF11_ENST00000420584.2_Missense_Mutation_p.E20K NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa 20 positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 GCGGCCGTCTCATCCGACTCC 0.622000 50 108 0 0 1 0 0 KNSTRN 90417 broad.mit.edu 37 15 40683705 40683705 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:40683705G>A ENST00000416151.2 + 7 812 c.697G>A c.(697-699)Gag>Aag p.E233K KNSTRN_ENST00000448395.2_Intron|KNSTRN_ENST00000608100.1_Missense_Mutation_p.E155K|KNSTRN_ENST00000249776.8_Missense_Mutation_p.E233K NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein TTTAGGCAGTGAGACCCTGGC 0.478000 12 33 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811494 73811494 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:73811494C>G ENST00000332687.6 - 4 1874 c.1656G>C c.(1654-1656)caG>caC p.Q552H RLIM_ENST00000349225.2_Missense_Mutation_p.Q552H NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 552 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGTTGTCAATCTGTTCTTTGG 0.393000 11 16 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26911177 26911177 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:26911177C>G ENST00000321765.5 - 13 2735 c.2403G>C c.(2401-2403)gaG>gaC p.E801D NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 801 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) CCTCCAAGGTCTCTTTCAGGT 0.512000 31 99 0 0 1 0 0 MBOAT7 79143 broad.mit.edu 37 19 54677870 54677870 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:54677870G>A ENST00000245615.1 - 8 1767 c.1287C>T c.(1285-1287)atC>atT p.I429I MBOAT7_ENST00000431666.2_Silent_p.I356I|MBOAT7_ENST00000338624.6_Silent_p.I356I NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 429 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TACAGAAGTAGATGGAGGCCC 0.637000 42 60 0 0 1 0 0 ART3 419 broad.mit.edu 37 4 77003299 77003299 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:77003299A>G ENST00000355810.4 + 3 511 c.392A>G c.(391-393)tAt>tGt p.Y131C ART3_ENST00000349321.3_Missense_Mutation_p.Y131C|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Missense_Mutation_p.Y131C NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 131 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GATTATATCTATGGCTTCCAG 0.438000 15 53 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21229816 21229816 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:21229816A>G ENST00000233242.1 - 26 10051 c.9924T>C c.(9922-9924)caT>caC p.H3308H NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 3308 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCTAGGGACATGAAGGACTG 0.423000 33 57 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215802251 215802251 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:215802251G>A ENST00000366943.2 - 72 15882 c.15496C>T c.(15496-15498)Cac>Tac p.H5166Y USH2A_ENST00000307340.3_Missense_Mutation_p.H5142Y O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 5142 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACGCTGCGGTGAAGAGAACCC 0.547000 HNSCC(13;0.011) 50 65 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70206605 70206605 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:70206605A>T ENST00000550536.1 + 9 1683 c.1226A>T c.(1225-1227)aAa>aTa p.K409I AC025263.3_ENST00000550437.1_Missense_Mutation_p.K34I|RAB3IP_ENST00000553099.1_Missense_Mutation_p.K187I|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000550847.1_Missense_Mutation_p.K100I|RAB3IP_ENST00000325555.9_Missense_Mutation_p.K187I|RAB3IP_ENST00000247833.7_Missense_Mutation_p.K393I|RAB3IP_ENST00000551641.1_Missense_Mutation_p.K187I NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 409 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) CACAGAATTAAATTAGGGGAC 0.333000 328 34 0 0 1 0 0 HORMAD1 84072 broad.mit.edu 37 1 150689644 150689644 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:150689644C>T ENST00000368993.2 - 3 253 c.148G>A c.(148-150)Gaa>Aaa p.E50K HORMAD1_ENST00000322343.7_Missense_Mutation_p.E50K|HORMAD1_ENST00000368995.4_5'UTR|HORMAD1_ENST00000361824.2_Missense_Mutation_p.E50K|HORMAD1_ENST00000476530.1_5'UTR Q86X24 HORM1_HUMAN HORMA domain containing 1 50 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TAAGCGCATTCTGGGAATATT 0.333000 21 340 0 0 1 0 0 C19orf45 374877 broad.mit.edu 37 19 7570984 7570984 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:7570984G>T ENST00000361664.2 + 7 1281 c.1140G>T c.(1138-1140)gaG>gaT p.E380D NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 380 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 GCCCTTCAGAGTGGAGACAGG 0.607000 21 20 5.35356e-11 5.65814e-11 1 1 0 SBF1 6305 broad.mit.edu 37 22 50885656 50885656 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:50885656C>T ENST00000380817.3 - 41 5780 c.5597G>A c.(5596-5598)cGt>cAt p.R1866H SBF1_ENST00000390679.3_Missense_Mutation_p.R1840H|SBF1_ENST00000348911.6_Missense_Mutation_p.R1841H NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GTAAACGCGACGCGTTGTCTT 0.672000 13 22 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176992702 176992702 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:176992702G>T ENST00000367654.3 - 7 1487 c.1276C>A c.(1276-1278)Cgc>Agc p.R426S ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R426S|ASTN1_ENST00000361833.2_Missense_Mutation_p.R426S|ASTN1_ENST00000424564.2_Missense_Mutation_p.R426S 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 AAGATGAAGCGGCTCCCTGCA 0.562000 6 22 8.12818e-05 8.34413e-05 1 1 0 POLQ 10721 broad.mit.edu 37 3 121228550 121228550 + Splice_Site SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:121228550C>G ENST00000264233.5 - 12 1945 c.1817G>C c.(1816-1818)gGa>gCa p.G606A NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 606 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ATACACCTTTCCTGGTTTAGG 0.398000 DNA polymerases (catalytic subunits) 11 53 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500556 90500556 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:90500556G>A ENST00000325643.5 + 4 1220 c.1154G>A c.(1153-1155)cGg>cAg p.R385Q NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GAAAGAAAACGGGCCGACCAC 0.572000 12 58 0 0 1 0 0 RAB40AL 282808 broad.mit.edu 37 X 102192696 102192696 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:102192696G>A ENST00000218249.5 + 1 497 c.450G>A c.(448-450)gtG>gtA p.V150V NM_001031834.1 NP_001027004.1 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 150 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding endometrium(4)|large_intestine(2)|lung(3)|ovary(3) 12 GCCTGGGCGTGACCTTCTTTG 0.587000 27 40 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15652490 15652490 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:15652490A>G ENST00000281171.4 + 4 953 c.623A>G c.(622-624)tAc>tGc p.Y208C PTPRO_ENST00000348962.2_Missense_Mutation_p.Y208C|PTPRO_ENST00000543886.1_Missense_Mutation_p.Y208C NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 208 Fibronectin type-III 2. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CTTGTTGAGTACAGTGGTGTC 0.363000 26 60 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37367409 37367409 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:37367409G>A ENST00000361924.2 + 14 4406 c.4032G>A c.(4030-4032)ttG>ttA p.L1344L GOLGA4_ENST00000356847.4_Silent_p.L1366L|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1344 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TAACACAGTTGAAGAAAGAGT 0.358000 6 16 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9613060 9613060 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:9613060G>A ENST00000460593.1 + 18 2996 c.1858G>A c.(1858-1860)Gag>Aag p.E620K CPSF3_ENST00000238112.3_Missense_Mutation_p.E657K|CPSF3_ENST00000489403.1_3'UTR Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 657 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) AGAATGTGAAGAGGGAAGTGA 0.418000 8 24 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394526 164394526 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:164394526C>G ENST00000280605.3 - 1 521 c.361G>C c.(361-363)Gtg>Ctg p.V121L NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 121 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCTGTTGCCACGTCAACAAAC 0.532000 22 49 0 0 1 0 0 CD27 939 broad.mit.edu 37 12 6559461 6559461 + Missense_Mutation SNP C C T rs150578547 byFrequency TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:6559461C>T ENST00000266557.3 + 3 620 c.391C>T c.(391-393)Cgg>Tgg p.R131W CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR NM_001242.4 NP_001233 P26842 CD27_HUMAN CD27 molecule 131 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity p.R131W(1) kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3) 10 GCTGACCGCTCGGTCGTCTCA 0.592000 9 67 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48908251 48908251 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:48908251G>A ENST00000263269.3 + 3 814 c.726G>A c.(724-726)caG>caA p.Q242Q NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 242 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding p.Q242H(1) autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TCAGCGCGCAGATCCGCCTGC 0.697000 14 53 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059670 152059670 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:152059670G>T ENST00000368806.1 - 3 552 c.488C>A c.(487-489)gCc>gAc p.A163D NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 163 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTGAGTCTTGGCTTCTCTCCA 0.448000 10 306 2.17888e-05 2.25112e-05 1 1 0 GSDMA 284110 broad.mit.edu 37 17 38121974 38121974 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:38121974G>A ENST00000301659.4 + 2 152 c.34G>A c.(34-36)Gcc>Acc p.A12T NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 12 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 CCGGGCCCTGGCCAGACAGCT 0.587000 3 18 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59620726 59620726 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:59620726T>C ENST00000257264.3 - 8 1294 c.1190A>G c.(1189-1191)aAt>aGt p.N397S NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 397 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGTTCTGTCATTATTGTTGGC 0.493000 59 108 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 99030392 99030392 + Missense_Mutation SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:99030392T>A ENST00000295268.3 - 4 541 c.452A>T c.(451-453)gAg>gTg p.E151V NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 TTTAGGTAACTCTTGTCTTCC 0.318000 13 46 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 431614 431614 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:431614G>A ENST00000399788.2 - 17 2757 c.2395C>T c.(2395-2397)Cag>Tag p.Q799* KDM5A_ENST00000382815.4_Nonsense_Mutation_p.Q799* NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 799 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 AGAAGCAGCTGAGCCACAGAA 0.398000 T NUP98 AML 41 96 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13792266 13792266 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:13792266G>A ENST00000265104.4 - 50 8389 c.8285C>T c.(8284-8286)tCt>tTt p.S2762F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2762 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTTTGTCACAGAATCTCTCAC 0.438000 Kartagener syndrome 13 79 0 0 1 0 0 DNAJA1 3301 broad.mit.edu 37 9 33026835 33026835 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:33026835G>A ENST00000330899.4 + 3 340 c.157G>A c.(157-159)Gaa>Aaa p.E53K DNAJA1_ENST00000544625.1_Intron|DNAJA1_ENST00000495015.1_Intron NM_001539.2 NP_001530.1 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 53 J. protein folding|response to heat|response to unfolded protein membrane ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding large_intestine(2)|ovary(1)|skin(3) 6 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) TCAAGCTTACGAAGTTCTCTC 0.393000 15 101 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158870054 158870054 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:158870054G>A ENST00000367097.3 + 4 1927 c.570G>A c.(568-570)caG>caA p.Q190Q TULP4_ENST00000367094.2_Silent_p.Q190Q NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 190 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCGATGGGCAGGTGATTGTCA 0.587000 25 33 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46294038 46294038 + Splice_Site SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:46294038C>T ENST00000359930.4 - 14 2754 c.e14-1 SULF2_ENST00000361612.4_Splice_Site|SULF2_ENST00000484875.1_Splice_Site|SULF2_ENST00000467815.1_Splice_Site NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 GGGTTTCAATCTGAGGGAGGG 0.527000 41 102 0 0 1 0 0 ZNF589 51385 broad.mit.edu 37 3 48309864 48309864 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:48309864C>T ENST00000354698.3 + 4 755 c.683C>T c.(682-684)tCa>tTa p.S228L ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron NM_016089.2 NP_057173.2 Q86UQ0 ZN589_HUMAN zinc finger protein 589 228 regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AACCAGAAGTCAAACCTGTTC 0.502000 29 77 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28840617 28840617 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:28840617T>C ENST00000422425.2 + 44 3230 c.3186T>C c.(3184-3186)tgT>tgC p.C1062C PLB1_ENST00000541605.1_Silent_p.C38C|PLB1_ENST00000327757.5_Silent_p.C1073C NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1073 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) ACTTCCTGTGTACAGAGTGGA 0.473000 22 75 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38231070 38231070 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:38231070G>A ENST00000339503.4 - 8 648 c.147C>T c.(145-147)atC>atT p.I49I ZNF573_ENST00000590414.2_Silent_p.I107I|ZNF573_ENST00000357309.3_Silent_p.I19I|ZNF573_ENST00000585724.1_3'UTR|ZNF573_ENST00000392138.1_Silent_p.I20I|ZNF573_ENST00000536220.1_Silent_p.I19I NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 87 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) CTATGTAGCTGATTATCTCAC 0.313000 5 18 0 0 1 0 0 ISLR2 57611 broad.mit.edu 37 15 74426445 74426445 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:74426445C>T ENST00000361742.3 + 4 2119 c.1350C>T c.(1348-1350)ctC>ctT p.L450L ISLR2_ENST00000435464.1_Silent_p.L450L|ISLR2_ENST00000565540.1_Silent_p.L450L|ISLR2_ENST00000453268.2_Silent_p.L450L|ISLR2_ENST00000419208.1_Silent_p.L450L|ISLR2_ENST00000445793.1_Silent_p.L450L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.L450L NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 450 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 ACCAGATCCTCGCGGACCCGG 0.642000 7 9 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98078233 98078233 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:98078233T>C ENST00000419175.1 + 2 498 c.328T>C c.(328-330)Tgc>Cgc p.C110R DNTT_ENST00000371174.2_Missense_Mutation_p.C110R NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 110 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) GCTGATCGAATGCATAAGAGC 0.468000 26 77 0 0 1 0 0 TMEM245 23731 broad.mit.edu 37 9 111853209 111853209 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:111853209C>T ENST00000374586.3 - 5 1174 c.1143G>A c.(1141-1143)ccG>ccA p.P381P NM_032012.3 NP_114401.2 Q9H330 CI005_HUMAN transmembrane protein 245 381 integral to membrane GACCTGCAATCGGCACTGGCA 0.378000 5 35 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133454175 133454175 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:133454175C>T ENST00000266880.7 - 3 262 c.199G>A c.(199-201)Gaa>Aaa p.E67K CHFR_ENST00000450056.2_Missense_Mutation_p.E67K|CHFR_ENST00000315585.7_Missense_Mutation_p.E67K|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.E67K|CHFR_ENST00000443047.2_Missense_Mutation_p.E67K Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 67 FHA. cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CCTGATTTTTCATCCACTACA 0.448000 31 52 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49245113 49245113 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:49245113G>A ENST00000332955.2 - 8 1234 c.687C>T c.(685-687)ggC>ggT p.G229G NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 229 Ig-like C2-type. fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) AGCGGTAGCTGCCTGCATCCT 0.572000 21 56 0 0 1 0 0 ANKRD37 353322 broad.mit.edu 37 4 186318345 186318345 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:186318345C>T ENST00000335174.4 + 2 509 c.69C>T c.(67-69)gtC>gtT p.V23V ANKRD37_ENST00000507479.1_3'UTR NM_181726.2 NP_859077.1 Q7Z713 ANR37_HUMAN ankyrin repeat domain 37 23 cytoplasm|nucleus NS(1)|large_intestine(1)|lung(1) 3 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155) GGGCCTCGGTCAACGCACCCC 0.622000 13 33 0 0 1 0 0 TAS2R46 259292 broad.mit.edu 37 12 11213998 11213998 + Missense_Mutation SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:11213998T>A ENST00000533467.1 - 1 895 c.896A>T c.(895-897)tAc>tTc p.Y299F PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 299 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) TTTCACCCAGTACCTCACATG 0.398000 36 87 0 0 1 0 0 TMEM230 29058 broad.mit.edu 37 20 5081551 5081551 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:5081551C>T ENST00000379286.2 - 5 669 c.249G>A c.(247-249)ctG>ctA p.L83L TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000379279.2_Silent_p.L83L|TMEM230_ENST00000379283.2_Silent_p.L83L|TMEM230_ENST00000379277.2_Silent_p.L83L|TMEM230_ENST00000202834.7_Silent_p.L83L|TMEM230_ENST00000342308.5_Silent_p.L146L NM_001009924.1 NP_001009924.1 Q96A57 CT030_HUMAN transmembrane protein 230 83 integral to membrane TGCCAATGATCAGCACTGGAA 0.483000 OREG0025754 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 57 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 130889624 130889624 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:130889624A>T ENST00000383366.4 + 14 1585 c.1292A>T c.(1291-1293)gAt>gTt p.D431V NEK11_ENST00000507910.1_Missense_Mutation_p.D431V|NEK11_ENST00000356918.4_Missense_Mutation_p.D431V|NEK11_ENST00000510769.1_Missense_Mutation_p.D326V|NEK11_ENST00000510688.1_Missense_Mutation_p.D431V|NEK11_ENST00000412440.2_Missense_Mutation_p.D247V|NEK11_ENST00000511262.1_Missense_Mutation_p.D431V|NEK11_ENST00000429253.2_Missense_Mutation_p.D431V|NEK11_ENST00000508196.1_Missense_Mutation_p.D431V NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 431 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 AAGGAATCTGATGAACCAACT 0.393000 35 159 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2033021 2033021 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:2033021A>G ENST00000382203.1 + 3 504 c.295A>G c.(295-297)Atg>Gtg p.M99V SMARCA2_ENST00000382194.1_Missense_Mutation_p.M99V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.M99V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.M99V|SMARCA2_ENST00000491574.1_3'UTR P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 99 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GGGCACTGGTATGCGACCACC 0.507000 90 90 0 0 1 0 0 LOC401127 401127 broad.mit.edu 37 4 39483091 39483091 + RNA SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:39483091C>T ENST00000513652.1 + 0 1098 TGTTAAGTCCCTTTGCTCCCA 0.512000 17 32 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64873438 64873438 + Translation_Start_Site SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:64873438A>T ENST00000533854.1 + 0 225 Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TTGCACAGCAACGGTCCAGGA 0.632000 25 25 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120312888 120312888 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:120312888C>T ENST00000397843.2 + 15 1445 c.1279C>T c.(1279-1281)Cag>Tag p.Q427* ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.Q324*|ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.Q408* NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 427 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TGAGTTTCATCAGTTCTTTCT 0.388000 T MLL AML 5 22 0 0 1 0 0 KDELC1 79070 broad.mit.edu 37 13 103443624 103443624 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:103443624G>C ENST00000376004.4 - 5 1165 c.829C>G c.(829-831)Ctg>Gtg p.L277V KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 277 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATGGTTTCCAGAACAGAATCA 0.443000 97 179 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969402 47969402 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:47969402A>T ENST00000236877.6 - 2 654 c.259T>A c.(259-261)Tcc>Acc p.S87T SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 87 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) GCGATGATGGACACTCCCAGA 0.607000 51 75 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71588247 71588247 + Translation_Start_Site SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:71588247T>A ENST00000226328.4 + 0 520 RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000381006.3_De_novo_Start_OutOfFrame NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) tgtgtgtgagtgtgtgtgtgt 0.478000 3 22 0 0 1 0 0 COX15 1355 broad.mit.edu 37 10 101486767 101486767 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:101486767C>G ENST00000370483.5 - 4 590 c.540G>C c.(538-540)atG>atC p.M180I CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.M180I NM_004376.5|NM_078470.4 NP_004367.2|NP_510870.1 Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) 180 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) CACGTCCTTTCATGCCACGGC 0.527000 12 36 0 0 1 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29230615 29230615 + RNA SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:29230615G>T ENST00000441381.1 + 0 79 ATACCACAATGAGATGGGAGA 0.413000 50 32 6.03219e-31 6.56944e-31 1 1 0 TCTN2 79867 broad.mit.edu 37 12 124155812 124155812 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:124155812C>G ENST00000303372.5 + 1 153 c.25C>G c.(25-27)Ctt>Gtt p.L9V TCTN2_ENST00000426174.2_Missense_Mutation_p.L9V NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 9 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TCCGGCCGCTCTTCTTTTGAG 0.642000 3 20 0 0 1 0 0 TSSK3 81629 broad.mit.edu 37 1 32828358 32828358 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:32828358G>C ENST00000373534.3 + 1 561 c.56G>C c.(55-57)gGg>gCg p.G19A FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 19 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) ATTGGGGAAGGGACCTACTCA 0.507000 27 80 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80732942 80732942 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:80732942A>G ENST00000458043.2 + 42 4927 c.4921A>G c.(4921-4923)Act>Gct p.T1641A OTOGL_ENST00000547103.1_Missense_Mutation_p.T1629A NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGTAATTACTACTCCAGCTGG 0.393000 39 58 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7628192 7628192 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:7628192C>G ENST00000340080.4 + 8 2303 c.1882C>G c.(1882-1884)Cag>Gag p.Q628E MIOS_ENST00000405785.1_Missense_Mutation_p.Q628E NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 628 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TAGTGATACTCAGGTGAAAAC 0.318000 4 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179480041 179480041 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:179480041C>T ENST00000589042.1 - 259 48855 c.48631G>A c.(48631-48633)Gaa>Aaa p.E16211K TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7146K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7271K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7338K|TTN_ENST00000591111.1_Missense_Mutation_p.E14570K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13643K|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14570 Fibronectin type-III 17. 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) TACTTTGTTTCTGCAACAGGT 0.373000 9 32 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3451116 3451116 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:3451116G>A ENST00000382774.3 + 14 2053 c.1938G>A c.(1936-1938)cgG>cgA p.R646R HGFAC_ENST00000511533.1_Silent_p.R653R NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 646 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) ACCGGATACGGCCTCCCAGGC 0.622000 13 24 0 0 1 0 0 DDX52 11056 broad.mit.edu 37 17 35988702 35988702 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:35988702T>C ENST00000349699.2 - 6 805 c.762A>G c.(760-762)ttA>ttG p.L254L DDX52_ENST00000394367.3_Silent_p.L146L NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 254 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) AAATTTTTATTAACTCTCTGT 0.313000 28 32 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234676951 234676951 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:234676951G>A ENST00000360418.3 + 4 1170 c.1170G>A c.(1168-1170)atG>atA p.M390I UGT1A6_ENST00000373424.1_Missense_Mutation_p.M122I|UGT1A10_ENST00000373445.1_Missense_Mutation_p.M387I|UGT1A1_ENST00000609767.1_Missense_Mutation_p.M391I|UGT1A8_ENST00000305208.5_Missense_Mutation_p.M390I|UGT1A5_ENST00000373414.3_Missense_Mutation_p.M391I|UGT1A6_ENST00000406651.1_Missense_Mutation_p.M122I|UGT1A9_ENST00000354728.4_Missense_Mutation_p.M387I|UGT1A7_ENST00000373426.3_Missense_Mutation_p.M387I|UGT1A1_ENST00000609637.1_Missense_Mutation_p.M387I|UGT1A1_ENST00000373450.4_Missense_Mutation_p.M387I|UGT1A4_ENST00000373409.3_Missense_Mutation_p.M391I|UGT1A1_ENST00000608381.1_Missense_Mutation_p.M391I|UGT1A1_ENST00000608383.1_Missense_Mutation_p.M390I|UGT1A10_ENST00000344644.5_Missense_Mutation_p.M387I|UGT1A6_ENST00000305139.6_Missense_Mutation_p.M389I|UGT1A3_ENST00000482026.1_Missense_Mutation_p.M391I P22309 UD11_HUMAN 390 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CCATGGTGATGATGCCCTTGT 0.473000 33 54 0 0 1 0 0 RGL3 57139 broad.mit.edu 37 19 11527324 11527324 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:11527324G>T ENST00000380456.3 - 4 452 c.389C>A c.(388-390)aCa>aAa p.T130K RGL3_ENST00000393423.3_Missense_Mutation_p.T130K NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 130 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 TTGTACCGCTGTCTTCTTGAT 0.557000 26 104 8.58068e-18 9.23044e-18 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168115691 168115691 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:168115691G>C ENST00000409728.1 + 11 2823 c.2734G>C c.(2734-2736)Gat>Cat p.D912H XIRP2_ENST00000409605.1_Missense_Mutation_p.D657H|XIRP2_ENST00000420519.1_Missense_Mutation_p.D912H|XIRP2_ENST00000409043.1_Missense_Mutation_p.D879H|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.D879H|XIRP2_ENST00000295237.9_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATTTGGAAAGGATGTTAAACC 0.343000 14 27 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39055503 39055503 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:39055503A>G ENST00000295373.6 - 14 2744 c.2618T>C c.(2617-2619)tTc>tCc p.F873S NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 873 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TCTGTTGTTGAAAAGAGAATT 0.343000 8 28 0 0 1 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354377 28354377 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:28354377T>C ENST00000532254.1 - 7 1514 c.829A>G c.(829-831)Aac>Gac p.N277D NPIPB6_ENST00000533640.1_Missense_Mutation_p.N259D NM_001282524.1 NP_001269453.1 nuclear pore complex interacting protein family, member B6 CTCAGGGAGTTATCAGTTATA 0.502000 5 94 0 0 1 0 0 PRDM4 11108 broad.mit.edu 37 12 108145930 108145930 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:108145930T>C ENST00000228437.5 - 5 847 c.388A>G c.(388-390)Ata>Gta p.I130V RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 130 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 TCAACATTTATAGAGTTAGGG 0.378000 18 69 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101341920 101341920 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:101341920C>T ENST00000344327.3 - 9 2827 c.2403G>A c.(2401-2403)atG>atA p.M801I TRPC6_ENST00000532133.1_Missense_Mutation_p.M723I|TRPC6_ENST00000348423.4_Missense_Mutation_p.M685I|TRPC6_ENST00000360497.4_Missense_Mutation_p.M746I NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 801 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTACCTTGTTCATCTCTGCAT 0.378000 33 73 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135176041 135176041 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:135176041G>A ENST00000372169.2 - 12 5706 c.5524C>T c.(5524-5526)Cat>Tat p.H1842Y SETX_ENST00000393220.1_Missense_Mutation_p.H1842Y|SETX_ENST00000224140.5_Missense_Mutation_p.H1842Y Q7Z333 SETX_HUMAN senataxin 1842 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) CGAAATTTATGAACATAACCA 0.353000 16 83 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179077197 179077197 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:179077197G>C ENST00000502732.1 - 12 3408 c.3205C>G c.(3205-3207)Ctg>Gtg p.L1069V ABL2_ENST00000507173.1_Missense_Mutation_p.L945V|ABL2_ENST00000512653.1_Missense_Mutation_p.L1054V|ABL2_ENST00000511413.1_Missense_Mutation_p.L966V|ABL2_ENST00000344730.3_Missense_Mutation_p.L951V|ABL2_ENST00000504405.1_Missense_Mutation_p.L930V|ABL2_ENST00000408940.3_Missense_Mutation_p.L1033V|ABL2_ENST00000367623.4_Missense_Mutation_p.L1048V NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 1069 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GTTTTTCTCAGAGCCACTTTA 0.537000 T ETV6 AML 25 59 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226923413 226923413 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:226923413C>T ENST00000429204.1 - 2 2074 c.1747G>A c.(1747-1749)Gag>Aag p.E583K ITPKB_ENST00000366784.1_Missense_Mutation_p.E583K|ITPKB_ENST00000272117.3_Missense_Mutation_p.E583K NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 583 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) TGCGTCTCCTCCAAGGCCCCA 0.602000 19 17 0 0 1 0 0 ATP8B5P 158381 broad.mit.edu 37 9 35450008 35450008 + RNA SNP G G A rs141566883 by1000genomes TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:35450008G>A ENST00000430846.1 + 0 2858 TATCAAATCAGTCACTTTTAT 0.428000 39 169 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93723860 93723860 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:93723860G>C ENST00000265990.6 + 13 1739 c.1431G>C c.(1429-1431)tgG>tgC p.W477C BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 477 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) ATACATTGTGGGATGCTCTTC 0.368000 19 26 0 0 1 0 0 FAM91A1 157769 broad.mit.edu 37 8 124787454 124787454 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:124787454C>T ENST00000334705.7 + 3 471 c.225C>T c.(223-225)ctC>ctT p.L75L FAM91A1_ENST00000521166.1_Silent_p.L75L NM_144963.2 NP_659400 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 75 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) GAGATCATCTCATGCTGTACC 0.388000 19 42 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41762297 41762297 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:41762297C>T ENST00000196371.5 - 14 1414 c.1254G>A c.(1252-1254)aaG>aaA p.K418K OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000509987.1_Silent_p.K232K|OXCT1_ENST00000512084.1_Silent_p.K21K|OXCT1_ENST00000510634.1_Silent_p.K21K NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 418 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity p.K418N(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) CTTTCACCATCTTCCCCTGCA 0.383000 57 64 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116340201 116340201 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:116340201G>A ENST00000397752.3 + 2 1263 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K MET_ENST00000436117.2_Missense_Mutation_p.E355K|MET_ENST00000318493.6_Missense_Mutation_p.E355K NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 355 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AGATTCTGCCGAACCAATGGA 0.473000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 14 31 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26462887 26462887 + Missense_Mutation SNP A A C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:26462887A>C ENST00000265944.5 + 30 3860 c.3694A>C c.(3694-3696)Aaa>Caa p.K1232Q MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1232 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GAAAGTGGAGAAAGAGGAAGC 0.433000 10 36 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42177104 42177104 + Splice_Site SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:42177104A>G ENST00000520810.1 + 15 1704 c.1518A>G c.(1516-1518)acA>acG p.T506T IKBKB_ENST00000522785.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.T504T|IKBKB_ENST00000416505.2_Splice_Site_p.T447T|IKBKB_ENST00000379708.3_Splice_Site_p.T283T|IKBKB_ENST00000522147.1_Intron NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 506 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TTTTTTCAGCATCAGATAAAC 0.408000 OREG0018747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 10 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25419126 25419126 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:25419126C>G ENST00000255324.5 + 22 3062 c.3010C>G c.(3010-3012)Cta>Gta p.L1004V RNF17_ENST00000381921.1_Missense_Mutation_p.L1004V|RNF17_ENST00000339524.3_Missense_Mutation_p.L56V NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1004 Tudor 2. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GGGTGTTGAACTAGTAGTGAA 0.323000 12 21 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561920 11561920 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:11561920A>G ENST00000294484.6 + 2 1009 c.871A>G c.(871-873)Acc>Gcc p.T291A PTCHD2_ENST00000389575.3_Missense_Mutation_p.T291A NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 291 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CAACATTTTCACCAGTGAGCG 0.622000 11 20 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73053201 73053201 + RNA SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:73053201C>T ENST00000429829.1 - 0 11444 NR_001564.2 CTCACATGCTCAGAATGTCCT 0.428000 15 21 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83277821 83277821 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:83277821C>A ENST00000307792.3 - 1 505 c.38G>T c.(37-39)tGg>tTg p.W13L NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 13 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TAAGTAACCCCACAGGAGCAA 0.527000 8 31 0.000274275 0.000279778 1 1 0 KBTBD7 84078 broad.mit.edu 37 13 41767785 41767785 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:41767785G>A ENST00000379483.3 - 1 917 c.609C>T c.(607-609)ctC>ctT p.L203L NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 203 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) CCATTCGGCTGAGCTGCTTGA 0.547000 22 62 0 0 1 0 0 PUS3 83480 broad.mit.edu 37 11 125764064 125764064 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:125764064A>G ENST00000227474.3 - 4 1159 c.1062T>C c.(1060-1062)aaT>aaC p.N354N HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000530811.1_Silent_p.N354N NM_001271985.1|NM_031307.3 NP_001258914.1|NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 354 nucleus RNA binding NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) TGACAGCATGATTAGCCCACA 0.418000 41 60 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222888 118222888 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:118222888G>A ENST00000402510.2 - 11 2304 c.2305C>T c.(2305-2307)Cag>Tag p.Q769* NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 769 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CTTGAGGACTGAAAAAGGCTT 0.463000 13 25 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49321491 49321491 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:49321491G>A ENST00000351842.4 - 18 2336 c.2328C>T c.(2326-2328)gtC>gtT p.V776V USP4_ENST00000265560.4_Silent_p.V823V NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 823 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GTTTGAGGTGGACCACCAGGA 0.463000 22 80 0 0 1 0 0 NT5E 4907 broad.mit.edu 37 6 86176992 86176992 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:86176992C>G ENST00000257770.3 + 2 603 c.554C>G c.(553-555)tCa>tGa p.S185* NT5E_ENST00000369646.3_Nonsense_Mutation_p.S185*|NT5E_ENST00000369651.3_Nonsense_Mutation_p.S185* NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 185 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) CCTTTTCTCTCAAATCCAGGT 0.358000 12 23 0 0 1 0 0 PSMD4 5710 broad.mit.edu 37 1 151239669 151239669 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:151239669G>C ENST00000368884.3 + 10 1064 c.984G>C c.(982-984)gtG>gtC p.V328V PSMD4_ENST00000368881.4_Silent_p.V331V NM_002810.2 NP_002801.1 P55036 PSMD4_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 328 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATTACGACGTGATGCAGGACC 0.562000 39 370 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47888001 47888001 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:47888001G>A ENST00000446256.2 + 12 1894 c.1322G>A c.(1321-1323)cGa>cAa p.R441Q DHX30_ENST00000348968.4_Missense_Mutation_p.R452Q|DHX30_ENST00000457607.1_Missense_Mutation_p.R508Q|DHX30_ENST00000445061.1_Missense_Mutation_p.R480Q NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 480 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ACCGAGGGCCGAGGTGCCCGC 0.652000 44 89 0 0 1 0 0 MGME1 92667 broad.mit.edu 37 20 17950725 17950725 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:17950725G>A ENST00000377710.5 + 2 511 c.223G>A c.(223-225)Gat>Aat p.D75N MGME1_ENST00000377709.1_Missense_Mutation_p.D75N|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377704.4_Missense_Mutation_p.D75N NM_052865.2 NP_443097.1 mitochondrial genome maintenance exonuclease 1 GGTGGAGGAAGATGCTTTGCT 0.498000 18 80 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4171907 4171907 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:4171907C>G ENST00000078445.2 + 10 1474 c.1327C>G c.(1327-1329)Cct>Gct p.P443A CREB3L3_ENST00000602257.1_Missense_Mutation_p.P441A|CREB3L3_ENST00000595923.1_Missense_Mutation_p.P442A|CREB3L3_ENST00000252587.3_3'UTR|CREB3L3_ENST00000602147.1_3'UTR NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 443 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGGTGGCGCCTGGGCCGAG 0.692000 8 15 0 0 1 0 0 RBM14 10432 broad.mit.edu 37 11 66384451 66384451 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:66384451C>T ENST00000310137.4 + 1 399 c.260C>T c.(259-261)tCg>tTg p.S87L RBM4_ENST00000514361.3_Missense_Mutation_p.S87L|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.S87L|RBM14-RBM4_ENST00000500635.2_Missense_Mutation_p.S87L|RBM14_ENST00000443702.1_Missense_Mutation_p.S87L|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14_ENST00000393979.3_Missense_Mutation_p.S87L|RBM14_ENST00000409372.1_Missense_Mutation_p.S87L|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000409738.4_Missense_Mutation_p.S87L NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 87 RRM 2. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 GGCAATGTGTCGGCTGCATGC 0.662000 30 60 0 0 1 0 0 OR3A2 4995 broad.mit.edu 37 17 3181779 3181779 + Silent SNP T T G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:3181779T>G ENST00000408891.2 - 1 489 c.451A>C c.(451-453)Agg>Cgg p.R151R NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 151 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 ACCAACATCCTCTGGACTGTC 0.597000 22 91 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21117535 21117535 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:21117535A>G ENST00000377122.4 - 17 2096 c.1700T>C c.(1699-1701)aTg>aCg p.M567T NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 567 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GTTAGAAAGCATCTTCTCTGC 0.368000 10 27 0 0 1 0 0 FAF2 23197 broad.mit.edu 37 5 175925944 175925944 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:175925944G>A ENST00000261942.6 + 9 922 c.869G>A c.(868-870)aGa>aAa p.R290K NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 290 response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 CAAGTGCTGAGACAACAGCAG 0.478000 12 45 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902657 247902657 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:247902657T>C ENST00000283225.2 + 1 741 c.741T>C c.(739-741)acT>acC p.T247T RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 TTGTTGTCACTGTGTTTCTTG 0.433000 12 31 0 0 1 0 0 HACL1 26061 broad.mit.edu 37 3 15604911 15604911 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:15604911G>A ENST00000321169.5 - 16 2025 c.1658C>T c.(1657-1659)tCt>tTt p.S553F HACL1_ENST00000435217.2_Missense_Mutation_p.S312F|HACL1_ENST00000451445.2_Missense_Mutation_p.S471F|HACL1_ENST00000457447.2_Missense_Mutation_p.S493F|HACL1_ENST00000456194.2_Missense_Mutation_p.S526F NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 553 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 GTTGATAAGAGAAGGTTTAGT 0.458000 8 40 0 0 1 0 0 DCN 1634 broad.mit.edu 37 12 91572179 91572179 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:91572179C>G ENST00000551354.1 - 2 355 c.151G>C c.(151-153)Ggc>Cgc p.G51R DCN_ENST00000546370.1_Missense_Mutation_p.G51R|DCN_ENST00000550099.1_Missense_Mutation_p.G51R|DCN_ENST00000228329.5_Missense_Mutation_p.G51R|DCN_ENST00000052754.5_Missense_Mutation_p.G51R|DCN_ENST00000393155.1_Missense_Mutation_p.G51R|DCN_ENST00000547568.2_Missense_Mutation_p.G51R|DCN_ENST00000420120.2_Missense_Mutation_p.G51R|DCN_ENST00000303320.3_Missense_Mutation_p.G51R|DCN_ENST00000546745.1_Missense_Mutation_p.G51R|DCN_ENST00000425043.1_Missense_Mutation_p.G51R|DCN_ENST00000456569.2_Missense_Mutation_p.G51R|DCN_ENST00000552962.1_Missense_Mutation_p.G51R|DCN_ENST00000441303.2_Missense_Mutation_p.G51R P07585 PGS2_HUMAN decorin 51 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 CACACTGGGCCTAGGGAGGGC 0.507000 OREG0022021 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 86 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66712454 66712454 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:66712454A>G ENST00000247815.4 + 7 2096 c.2037A>G c.(2035-2037)gaA>gaG p.E679E NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 679 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TTGATGCAGAACTAAATATCT 0.338000 8 43 0 0 1 0 0 IL10RB 3588 broad.mit.edu 37 21 34655483 34655483 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr21:34655483C>T ENST00000290200.2 + 5 691 c.583C>T c.(583-585)Ctt>Ttt p.L195F AP000295.9_ENST00000433395.2_Silent_p.F322F NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 TCGAGGGTTTCTTCCTGATCG 0.473000 47 46 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156351923 156351923 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:156351923C>T ENST00000400992.2 + 7 1315 c.947C>T c.(946-948)cCg>cTg p.P316L RHBG_ENST00000451864.2_Missense_Mutation_p.P270L|RHBG_ENST00000368246.2_Missense_Mutation_p.P348L|RHBG_ENST00000537040.1_Missense_Mutation_p.R181W|RHBG_ENST00000255013.3_Missense_Mutation_p.P279L|RHBG_ENST00000368249.1_Missense_Mutation_p.P348L Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 348 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CATGGGATGCCGGGGGTCCTG 0.577000 32 128 0 0 1 0 0 DNAJB5 25822 broad.mit.edu 37 9 34996275 34996275 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:34996275C>T ENST00000541010.1 + 2 3237 c.225C>T c.(223-225)ggC>ggT p.G75G DNAJB5_ENST00000453597.3_Silent_p.G189G|DNAJB5_ENST00000545841.1_Silent_p.G75G|DNAJB5_ENST00000335998.3_Silent_p.G109G|DNAJB5_ENST00000454002.2_Silent_p.G147G|DNAJB5_ENST00000312316.5_Silent_p.G75G O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 75 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) TGAAGACCGGCGGTGGCACAT 0.597000 6 60 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196865601 196865601 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:196865601C>A ENST00000312428.6 - 12 1280 c.1180G>T c.(1180-1182)Gtt>Ttt p.V394F DNAH7_ENST00000410072.1_Missense_Mutation_p.V394F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 394 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAAGCTCTAACAGAATCCTGC 0.333000 10 37 6.40141e-05 6.5925e-05 1 1 0 HTR3E 285242 broad.mit.edu 37 3 183822015 183822015 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:183822015G>A ENST00000415389.2 + 4 791 c.325G>A c.(325-327)Ggc>Agc p.G109S HTR3E_ENST00000335304.2_Missense_Mutation_p.G124S|HTR3E_ENST00000440596.2_Missense_Mutation_p.G109S|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Missense_Mutation_p.G94S|HTR3E_ENST00000436361.2_Missense_Mutation_p.G109S NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 109 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GGAATGTGAGGGCATCACGAA 0.488000 6 33 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710593 14710593 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:14710593C>T ENST00000547437.1 + 11 788 c.711C>T c.(709-711)aaC>aaT p.N237N CLEC17A_ENST00000417570.1_Silent_p.N237N|CLEC17A_ENST00000397439.2_Silent_p.N220N NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 237 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity CTGACACCAACCAGTCCCTGG 0.552000 19 15 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135973980 135973980 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:135973980G>A ENST00000393160.3 - 18 2927 c.2574C>T c.(2572-2574)atC>atT p.I858I RALGDS_ENST00000372062.3_Silent_p.I884I|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Silent_p.I913I|RALGDS_ENST00000393157.3_Silent_p.I912I|RALGDS_ENST00000542690.1_Silent_p.I984I|RALGDS_ENST00000372047.3_Silent_p.I901I NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 913 Ras-associating. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) GCCCTCAGAAGATGCCCTTGG 0.612000 T CIITA """PMBL, Hodgkin Lymphona, """ 9 39 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225739015 225739015 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:225739015G>A ENST00000409592.3 - 10 1164 c.1051C>T c.(1051-1053)Cta>Tta p.L351L DOCK10_ENST00000258390.7_Silent_p.L357L Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 357 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AACAGATTTAGCCTCTCCATG 0.338000 5 7 0 0 1 0 0 C7orf62 219557 broad.mit.edu 37 7 88423870 88423870 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:88423870C>T ENST00000297203.2 - 2 572 c.387G>A c.(385-387)atG>atA p.M129I ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 129 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 CTATAATTTTCATTTGTTGAA 0.348000 7 37 0 0 1 0 0 MGME1 92667 broad.mit.edu 37 20 17950748 17950748 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:17950748G>C ENST00000377710.5 + 2 534 c.246G>C c.(244-246)gtG>gtC p.V82V MGME1_ENST00000377709.1_Silent_p.V82V|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377704.4_Silent_p.V82V NM_052865.2 NP_443097.1 mitochondrial genome maintenance exonuclease 1 GTGGACCCGTGAGCAAGCATA 0.483000 17 69 0 0 1 0 0 CALB1 793 broad.mit.edu 37 8 91094304 91094304 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:91094304G>A ENST00000265431.3 - 2 287 c.106C>T c.(106-108)Ctg>Ttg p.L36L NM_004929.2 NP_004920.1 P05937 CALB1_HUMAN calbindin 1, 28kDa 36 EF-hand 1. nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) AAGTTCTGCAGCTCCTTTCCT 0.463000 48 95 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7137190 7137190 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:7137190C>T ENST00000320892.6 + 3 575 c.133C>T c.(133-135)Ctg>Ttg p.L45L RNF144A_ENST00000467276.1_Intron NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 45 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) CTTCTGTACTCTGGTTGGTCT 0.458000 24 84 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41063186 41063186 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:41063186G>C ENST00000352632.3 + 26 5633 c.5547G>C c.(5545-5547)caG>caC p.Q1849H SPTBN4_ENST00000595535.1_Missense_Mutation_p.Q1849H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.Q1849H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.Q1849H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.Q592H|SPTBN4_ENST00000392023.1_Missense_Mutation_p.Q525H Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1849 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTCAGGGACAGATTGAGGAGA 0.652000 20 44 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76735740 76735740 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:76735740C>G ENST00000287239.4 + 8 2134 c.1645C>G c.(1645-1647)Cat>Gat p.H549D KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372724.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 549 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TGGGCTTTCTCATATCTATAC 0.512000 28 62 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602476 13602476 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:13602476G>A ENST00000040738.5 - 10 6183 c.6048C>T c.(6046-6048)gtC>gtT p.V2016V NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2016 DNA binding CACATTCTGGGACTTCACCAG 0.438000 7 19 0 0 1 0 0 YPEL5 51646 broad.mit.edu 37 2 30381638 30381638 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:30381638G>A ENST00000379520.3 + 5 799 c.295G>A c.(295-297)Gtg>Atg p.V99M YPEL5_ENST00000402003.3_Missense_Mutation_p.V99M|YPEL5_ENST00000402708.1_Missense_Mutation_p.V99M|YPEL5_ENST00000261353.4_Missense_Mutation_p.V99M|YPEL5_ENST00000379519.3_Missense_Mutation_p.V99M|YPEL5_ENST00000495673.1_3'UTR NM_001127401.1 NP_001120873.1 P62699 YPEL5_HUMAN yippee-like 5 (Drosophila) 99 peptide-methionine-(S)-S-oxide reductase activity NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1) 7 Acute lymphoblastic leukemia(172;0.155) GGAAGGCCGCGTGATCCTGGA 0.473000 12 92 0 0 1 0 0 MID1 4281 broad.mit.edu 37 X 10534931 10534931 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:10534931C>T ENST00000317552.4 - 2 1057 c.657G>A c.(655-657)ttG>ttA p.L219L MID1_ENST00000453318.2_Silent_p.L219L|MID1_ENST00000380782.2_Silent_p.L219L|MID1_ENST00000380779.1_Silent_p.L219L|MID1_ENST00000380780.1_Silent_p.L219L|MID1_ENST00000380787.1_Silent_p.L219L|MID1_ENST00000380785.1_Silent_p.L219L NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 219 microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding p.L219F(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 GACTAACCTTCAATTTGTCAT 0.478000 20 33 0 0 1 0 0 EXOC3 11336 broad.mit.edu 37 5 464459 464459 + Missense_Mutation SNP G G C rs140433753 by1000genomes TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:464459G>C ENST00000512944.1 + 10 1897 c.1708G>C c.(1708-1710)Gac>Cac p.D570H EXOC3_ENST00000315013.5_Missense_Mutation_p.D570H NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 581 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AAACGCTGTAGACATTATCTG 0.413000 17 785 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19290806 19290806 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:19290806G>A ENST00000380432.2 + 1 58 c.25G>A c.(25-27)Gat>Aat p.D9N DENND4C_ENST00000602925.1_Missense_Mutation_p.D245N|DENND4C_ENST00000434457.2_Missense_Mutation_p.D245N Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 9 UDENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TGAGTGCTGGGATCCTGAAAC 0.373000 8 58 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61288065 61288065 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:61288065G>A ENST00000217159.1 + 2 464 c.259G>A c.(259-261)Ggc>Agc p.G87S SLCO4A1_ENST00000370507.1_Missense_Mutation_p.G87S NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 87 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CGTGGCGTGCGGCTGGTGGGC 0.687000 8 19 0 0 1 0 0 EN1 2019 broad.mit.edu 37 2 119600673 119600673 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:119600673G>A ENST00000295206.6 - 2 1530 c.1020C>T c.(1018-1020)ctC>ctT p.L340L NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 340 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 CGTTGAGGCTGAGTTCCTGGG 0.612000 17 24 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780027 37780027 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:37780027C>T ENST00000447769.1 + 4 321 c.32C>T c.(31-33)tCt>tTt p.S11F GPR141_ENST00000334425.1_Missense_Mutation_p.S11F|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 11 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGGAATTCCTCTTGCGATCCT 0.473000 39 165 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27518218 27518218 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:27518218G>A ENST00000356183.4 - 9 1517 c.1502C>T c.(1501-1503)tCt>tTt p.S501F GTF3C1_ENST00000561623.1_Missense_Mutation_p.S501F NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 501 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GAGGTTTGCAGAGGCTCTTGT 0.637000 12 47 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47883052 47883052 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:47883052C>G ENST00000328771.4 + 14 3141 c.2792C>G c.(2791-2793)gCa>gGa p.A931G NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 931 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CTGCAGCTAGCAGACAGTGAA 0.652000 23 89 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915552 48915552 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:48915552G>C ENST00000294954.7 - 11 1405 c.1384C>G c.(1384-1386)Cta>Gta p.L462V LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.L435V|LHCGR_ENST00000344775.3_Missense_Mutation_p.L400V|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 462 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) CATCTTTCTAGAGTGATGACG 0.483000 14 88 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119694219 119694219 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:119694219G>A ENST00000371322.5 - 1 336 c.275C>T c.(274-276)tCc>tTc p.S92F CUL4B_ENST00000336592.6_Missense_Mutation_p.S97F|CUL4B_ENST00000404115.3_Missense_Mutation_p.S110F NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 110 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding p.S92F(1)|p.S110F(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TACGTGGCTGGAAGCAGCCAC 0.547000 24 39 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655508 19655508 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:19655508C>T ENST00000586018.1 + 8 2274 c.2172C>T c.(2170-2172)aaC>aaT p.N724N CILP2_ENST00000291495.5_Silent_p.N718N Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 718 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 TGGTGGGCAACGTGGAGATCC 0.706000 4 24 0 0 1 0 0 CCNT2 905 broad.mit.edu 37 2 135694537 135694537 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:135694537G>C ENST00000264157.5 + 3 397 c.367G>C c.(367-369)Gat>Cat p.D123H CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.D123H NM_001241.3|NM_058241.2 NP_001232.1|NP_490595.1 O60583 CCNT2_HUMAN cyclin T2 123 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) TACTAAATGTGATGTATGTAA 0.358000 9 32 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189713102 189713102 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:189713102C>G ENST00000319332.5 - 2 807 c.610G>C c.(610-612)Gac>Cac p.D204H LEPREL1_ENST00000427335.2_Missense_Mutation_p.D23H NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 204 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GCTTCTCTGTCTACCAACTGC 0.498000 18 67 0 0 1 0 0 ANXA5 308 broad.mit.edu 37 4 122599105 122599105 + Splice_Site SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:122599105C>A ENST00000296511.5 - 8 760 c.475G>T c.(475-477)Gct>Tct p.A159S ANXA5_ENST00000501272.2_Splice_Site_p.A99S|ANXA5_ENST00000515017.1_Splice_Site_p.A59S NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 159 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 TCTCTGTTAGCCTATGAGAGG 0.378000 13 43 2.32078e-09 2.44213e-09 1 1 0 SMC2 10592 broad.mit.edu 37 9 106889711 106889711 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:106889711G>A ENST00000286398.7 + 20 3028 c.2740G>A c.(2740-2742)Gac>Aac p.D914N SMC2_ENST00000374787.3_Missense_Mutation_p.D914N|SMC2_ENST00000303219.8_Missense_Mutation_p.D914N|SMC2_ENST00000374793.3_Missense_Mutation_p.D914N NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 914 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity p.D914N(2) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 TAAGGAATTAGACCACAACAT 0.363000 10 51 0 0 1 0 0 DOC2A 8448 broad.mit.edu 37 16 30017614 30017614 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:30017614G>C ENST00000350119.4 - 11 1286 c.1096C>G c.(1096-1098)Cgg>Ggg p.R366G DOC2A_ENST00000564979.1_Missense_Mutation_p.R366G|DOC2A_ENST00000564944.1_Missense_Mutation_p.R366G NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2 NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2 Q14183 DOC2A_HUMAN double C2-like domains, alpha 366 Interaction with UNC13D. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 CAGTGCTTCCGAGCCTCGCCT 0.726000 17 32 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160464285 160464285 + Missense_Mutation SNP G G A rs6413489 byFrequency TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:160464285G>A ENST00000356956.1 + 12 1734 c.1586G>A c.(1585-1587)cGa>cAa p.R529Q NM_000876.2 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 529 R -> Q (in dbSNP:rs6413489). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GGCAAGGCACGAGGGTGTCCC 0.502000 24 100 0 0 1 0 0 OVOL2 58495 broad.mit.edu 37 20 18005586 18005586 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:18005586G>A ENST00000278780.6 - 4 764 c.522C>T c.(520-522)ccC>ccT p.P174P OVOL2_ENST00000483661.1_5'UTR NM_021220.2 NP_067043.2 Q9BRP0 OVOL2_HUMAN ovo-like zinc finger 2 174 negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3) 6 TGCATTTGTAGGGACGAATGC 0.517000 27 96 0 0 1 0 0 MMP9 4318 broad.mit.edu 37 20 44639824 44639824 + Missense_Mutation SNP A A C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:44639824A>C ENST00000372330.3 + 5 711 c.692A>C c.(691-693)cAc>cCc p.H231P NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 231 Fibronectin type-II 1. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) GCGGCCTGCCACTTCCCCTTC 0.637000 59 117 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e 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 12 26 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144892563 144892563 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:144892563C>G ENST00000369359.4 - 25 3291 c.3253G>C c.(3253-3255)Gat>Cat p.D1085H PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D1085H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D948H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D948H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D948H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D1014H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D1111H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D948H Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 948 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) GTGCTTGTATCTTCGGTGTCA 0.493000 T PDGFRB MPD 120 123 0 0 1 0 0 LARP7 51574 broad.mit.edu 37 4 113567980 113567980 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:113567980A>T ENST00000509061.1 + 7 745 c.442A>T c.(442-444)Att>Ttt p.I148F LARP7_ENST00000344442.5_Missense_Mutation_p.I141F|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.I141F NM_001267039.1 NP_001253968.1 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 141 RRM. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TCACAGCTGGATTGAAAGAGT 0.294000 18 37 0 0 1 0 0 HGD 3081 broad.mit.edu 37 3 120365178 120365178 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:120365178C>G ENST00000283871.5 - 9 1044 c.585G>C c.(583-585)gaG>gaC p.E195D NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 195 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) AGCCCCTGGTCTCCTCAAAGA 0.473000 14 116 0 0 1 0 0 PMM1 5372 broad.mit.edu 37 22 41982157 41982157 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:41982157C>T ENST00000216259.7 - 2 212 c.128G>A c.(127-129)cGa>cAa p.R43Q PMM1_ENST00000466645.1_5'UTR NM_002676.2 NP_002667.2 Q92871 PMM1_HUMAN phosphomannomutase 1 43 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11 CACTCTACTTCGTAGCTTCTG 0.562000 37 61 0 0 1 0 0 FN3KRP 79672 broad.mit.edu 37 17 80676928 80676928 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:80676928G>C ENST00000269373.6 + 2 361 c.288G>C c.(286-288)ctG>ctC p.L96L FN3KRP_ENST00000535965.1_Silent_p.L46L NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 96 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TGAGGCATCTGAGCAGGTGCA 0.537000 34 41 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55559806 55559806 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:55559806C>T ENST00000436346.1 - 16 3592 c.2751G>A c.(2749-2751)aaG>aaA p.K917K AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.K917K|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Silent_p.K917K|CCDC88A_ENST00000413716.2_Silent_p.K917K|AC012358.8_ENST00000599352.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 917 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TCTGTTGGGTCTTCAACTTTT 0.343000 10 48 0 0 1 0 0 MED22 6837 broad.mit.edu 37 9 136213410 136213410 + Silent SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:136213410G>T ENST00000491289.1 - 2 689 c.108C>A c.(106-108)atC>atA p.I36I MED22_ENST00000371999.1_Silent_p.I36I|MED22_ENST00000343730.5_Silent_p.I36I|MED22_ENST00000476080.1_Silent_p.I36I|MED22_ENST00000471524.1_Intron|MED22_ENST00000344469.5_Silent_p.I36I Q15528 MED22_HUMAN mediator complex subunit 22 36 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|mediator complex|soluble fraction protein binding endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05) CGGTCTTGATGATCTCGGTGA 0.607000 10 49 4.68919e-08 4.91297e-08 1 1 0 RP11-252A24.2 0 broad.mit.edu 37 16 74387794 74387794 + RNA SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:74387794G>A ENST00000429810.2 - 0 449 GAACCTGGTAGAGCCAGCAGC 0.468000 24 16 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182822539 182822539 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:182822539C>G ENST00000367549.3 + 5 573 c.463C>G c.(463-465)Caa>Gaa p.Q155E NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 155 Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AAAGGAAGAACAAGAAGTGCA 0.468000 14 72 0 0 1 0 0 TRAV8-4 28682 broad.mit.edu 37 14 22363137 22363137 + RNA SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:22363137G>A ENST00000390438.2 + 0 396 TAAGAAGAGTGAAACCTCCTT 0.522000 67 68 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47709968 47709968 + Silent SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:47709968C>G ENST00000233146.2 + 16 2908 c.2685C>G c.(2683-2685)ccC>ccG p.P895P MSH2_ENST00000406134.1_Intron|MSH2_ENST00000543555.1_Silent_p.P829P|MSH2_ENST00000461394.1_Intron NM_000251.2 NP_000242.1 P43246 MSH2_HUMAN mutS homolog 2 895 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AACAAATGCCCTTTACTGAAA 0.303000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 9 21 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1828172 1828172 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:1828172C>T ENST00000170168.4 - 2 710 c.616G>A c.(616-618)Gtg>Atg p.V206M REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 206 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) GGCTGGCTCACAGCCTTGGGG 0.677000 4 6 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56531979 56531979 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:56531979G>C ENST00000394048.5 + 21 2524 c.2260G>C c.(2260-2262)Gag>Cag p.E754Q ESYT1_ENST00000541590.1_Missense_Mutation_p.E764Q|ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000267113.4_Missense_Mutation_p.E764Q NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 754 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 GCTGACCCTGGAGGATGTCCC 0.582000 75 110 0 0 1 0 0 RPS19 6223 broad.mit.edu 37 19 42373788 42373788 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:42373788C>T ENST00000598742.1 + 5 748 c.376C>T c.(376-378)Cag>Tag p.Q126* RPS19_ENST00000593863.1_Nonsense_Mutation_p.Q126*|RPS19_ENST00000221975.2_Nonsense_Mutation_p.Q52* NM_001022.3 NP_001013.1 P39019 RS19_HUMAN ribosomal protein S19 126 endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome p.Q126*(1) endometrium(1)|lung(1)|upper_aerodigestive_tract(1) 3 ACTGACACCTCAGGGACAAAG 0.617000 Diamond-Blackfan Anemia 7 41 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49032967 49032967 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:49032967C>T ENST00000226432.4 + 11 1681 c.1498C>T c.(1498-1500)Cac>Tac p.H500Y CWH43_ENST00000513409.1_Missense_Mutation_p.H473Y NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 500 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 CACAAGGTATCACACTTGGGG 0.443000 22 46 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47839804 47839804 + Splice_Site SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:47839804G>A ENST00000371764.4 + 4 402 c.e4-1 DDX27_ENST00000484427.1_Splice_Site NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTTTTTCCCAGGATAAAGAAG 0.458000 13 18 0 0 1 0 0 RAP2A 5911 broad.mit.edu 37 13 98086979 98086979 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:98086979C>T ENST00000245304.4 + 1 504 c.255C>T c.(253-255)gtC>gtT p.V85V NM_021033.6 NP_066361.1 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family 85 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) ACAGCCTCGTCAACCAGCAGA 0.642000 12 44 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. 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 CACCCACCACCCCCAAGGAGC 0.637000 4 129 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237361 29237361 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:29237361C>T ENST00000382535.3 + 2 1245 c.876C>T c.(874-876)ctC>ctT p.L292L FOXG1_ENST00000313071.4_Silent_p.L292L P55316 FOXG1_HUMAN forkhead box G1 292 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GTGCGCGCCTCACCTCCACCG 0.706000 41 37 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100457579 100457579 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:100457579C>G ENST00000354161.3 + 8 1175 c.1050C>G c.(1048-1050)atC>atG p.I350M SLC12A9_ENST00000415287.1_Missense_Mutation_p.I261M|SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000275729.3_Missense_Mutation_p.I261M|SLC12A9_ENST00000540482.1_Missense_Mutation_p.I350M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.I350M NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 350 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) TGATCGGAATCTATGCCACAG 0.602000 30 63 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38146396 38146396 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:38146396C>G ENST00000378505.2 - 15 2032 c.1856G>C c.(1855-1857)aGa>aCa p.R619T RPGR_ENST00000339363.3_Missense_Mutation_p.R824T|RPGR_ENST00000309513.3_Missense_Mutation_p.R557T|RPGR_ENST00000342811.3_Missense_Mutation_p.R619T|RPGR_ENST00000318842.7_Missense_Mutation_p.R619T|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 619 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding p.R619T(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 Tttctcctttcttcctccatg 0.463000 34 38 0 0 1 0 0 FAM221B 392307 broad.mit.edu 37 9 35825915 35825915 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:35825915C>T ENST00000423537.2 - 2 513 c.244G>A c.(244-246)Gag>Aag p.E82K TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 82 endometrium(2)|kidney(1)|lung(4) 7 GAAGGAGTCTCAGAGATGGAA 0.532000 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 209 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41569739 41569739 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:41569739C>T ENST00000263253.7 + 29 5949 c.4730C>T c.(4729-4731)tCt>tTt p.S1577F RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1577 Binding region for E1A adenovirus. 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 CCCAATGTATCTAACGACCTC 0.443000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 48 99 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133475801 133475801 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:133475801G>A ENST00000402696.3 + 7 1303 c.818G>A c.(817-819)cGa>cAa p.R273Q TF_ENST00000264998.3_Missense_Mutation_p.R146Q NM_001063.3 NP_001054 P02787 TRFE_HUMAN transferrin 273 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GTCGTGGCCCGAAGTATGGGC 0.592000 22 89 0 0 1 0 0 MAP10 54627 broad.mit.edu 37 1 232943184 232943184 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:232943184A>T ENST00000418460.1 + 1 2542 c.2415A>T c.(2413-2415)gaA>gaT p.E805D NM_019090.2 NP_061963.2 microtubule-associated protein 10 TAGATAAGGAAATAGATATTA 0.353000 34 27 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67795343 67795343 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:67795343G>A ENST00000262345.1 + 6 1378 c.738G>A c.(736-738)tgG>tgA p.W246* IL12RB2_ENST00000544434.1_Nonsense_Mutation_p.W246*|IL12RB2_ENST00000371000.1_Nonsense_Mutation_p.W246*|IL12RB2_ENST00000541374.1_Nonsense_Mutation_p.W246* NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 246 Fibronectin type-III 2. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 CCCTTTATTGGAGAGATGAGG 0.428000 18 37 0 0 1 0 0 RBP4 5950 broad.mit.edu 37 10 95360732 95360732 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:95360732C>T ENST00000371467.1 - 2 373 c.54G>A c.(52-54)gcG>gcA p.A18A FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Intron|RBP4_ENST00000371464.3_Silent_p.A18A P02753 RET4_HUMAN retinol binding protein 4, plasma 18 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding large_intestine(1)|lung(3)|skin(1) 5 Colorectal(252;0.122) Vitamin A(DB00162) AGTCGCGCTCCGCGCGGCCGC 0.701000 9 26 0 0 1 0 0 TWF2 11344 broad.mit.edu 37 3 52263176 52263176 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:52263176G>C ENST00000305533.5 - 9 1167 c.924C>G c.(922-924)ctC>ctG p.L308L TLR9_ENST00000597542.1_Intron|TLR9_ENST00000494383.1_Intron|TWF2_ENST00000499914.2_3'UTR NM_007284.3 NP_009215.1 twinfilin actin-binding protein 2 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCTCGTCGTAGAGGAACTCTG 0.647000 18 53 0 0 1 0 0 RNF150 57484 broad.mit.edu 37 4 141789490 141789490 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:141789490C>T ENST00000515673.2 - 7 1275 c.1242G>A c.(1240-1242)ttG>ttA p.L414L RNF150_ENST00000306799.3_Silent_p.L372L|RNF150_ENST00000379512.2_Silent_p.L273L|RNF150_ENST00000420921.2_Silent_p.L273L Q9ULK6 RN150_HUMAN ring finger protein 150 integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) TTGCCATGATCAAGGAAATGT 0.463000 12 27 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201843488 201843488 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:201843488G>C ENST00000361565.4 + 21 2890 c.2821G>C c.(2821-2823)Gag>Cag p.E941Q NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 941 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CACTCCTGCAGAGTGGAGTCA 0.493000 17 51 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71842693 71842693 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:71842693T>C ENST00000377245.4 + 8 1431 c.1223T>C c.(1222-1224)aTa>aCa p.I408T TJP2_ENST00000453658.2_Missense_Mutation_p.I385T|TJP2_ENST00000348208.4_Missense_Mutation_p.I408T|TJP2_ENST00000539225.1_Missense_Mutation_p.I439T|TJP2_ENST00000535702.1_Missense_Mutation_p.I412T|TJP2_ENST00000265384.7_Missense_Mutation_p.I408T NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 408 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 ATTTCAGAAATAGAGTCAAAC 0.333000 7 28 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53839034 53839034 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:53839034A>G ENST00000288139.4 + 46 5788 c.5670A>G c.(5668-5670)agA>agG p.R1890R CACNA1D_ENST00000350061.5_Silent_p.R1870R|CACNA1D_ENST00000544977.1_Silent_p.R249R|CACNA1D_ENST00000422281.2_Silent_p.R1846R NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACTACAGCAGATACCCAGGCA 0.527000 17 48 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111745482 111745482 + Silent SNP C C T rs151311247 byFrequency TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:111745482C>T ENST00000374595.4 - 6 922 c.843G>A c.(841-843)ccG>ccA p.P281P CTNNAL1_ENST00000325551.4_Silent_p.P281P|CTNNAL1_ENST00000325580.6_Silent_p.P281P Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 281 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) TCTCTCCATTCGGTTTACAGT 0.328000 11 35 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4878522 4878522 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:4878522G>T ENST00000354582.6 + 60 8398 c.8048G>T c.(8047-8049)gGa>gTa p.G2683V AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.G2650V|ITPR1_ENST00000544951.1_Missense_Mutation_p.G661V|ITPR1_ENST00000456211.2_Missense_Mutation_p.G2635V|ITPR1_ENST00000357086.4_Missense_Mutation_p.G2650V|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.G2683V|ITPR1_ENST00000443694.2_Missense_Mutation_p.G2683V Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2698 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GATTCTGAAGGAGAACAGAAT 0.423000 4 14 3.59834e-05 3.71367e-05 1 1 0 CPXM1 56265 broad.mit.edu 37 20 2776955 2776955 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:2776955C>T ENST00000380605.2 - 9 1244 c.1180G>A c.(1180-1182)Gag>Aag p.E394K NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 394 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ATGCGCATCTCAGAGAGCAGC 0.622000 24 51 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94808186 94808186 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:94808186A>T ENST00000453321.3 + 18 1889 c.1831A>T c.(1831-1833)Act>Tct p.T611S TMEM67_ENST00000409623.3_Missense_Mutation_p.T530S NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 611 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) ACGTTTTGTCACTTATGTTGG 0.333000 18 42 0 0 1 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178080608 178080608 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:178080608G>C ENST00000411529.2 + 3 311 c.260G>C c.(259-261)aGa>aCa p.R87T HNRNPA3_ENST00000392524.2_Missense_Mutation_p.R109T|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R109T NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 109 RRM 1. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 GAACCAAAGAGAGCTGTTTCT 0.368000 22 65 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 101038590 101038590 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:101038590G>C ENST00000193391.7 - 2 359 c.172C>G c.(172-174)Cta>Gta p.L58V NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 58 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TTGGTAGCTAGAGAAAGGTCT 0.423000 17 111 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084641 53084641 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:53084641C>T ENST00000276480.7 - 10 1463 c.780G>A c.(778-780)caG>caA p.Q260Q NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 260 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CGAGAGCATTCTGCGGGTCTT 0.473000 22 40 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201844282 201844282 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:201844282G>A ENST00000361565.4 + 23 3010 c.2941G>A c.(2941-2943)Gag>Aag p.E981K NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 981 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 TCTAACAGAGGAGGATTACTA 0.512000 18 67 0 0 1 0 0 TCHP 84260 broad.mit.edu 37 12 110345389 110345389 + Missense_Mutation SNP G G A rs140118187 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:110345389G>A ENST00000312777.5 + 6 798 c.584G>A c.(583-585)cGa>cAa p.R195Q TCHP_ENST00000405876.4_Missense_Mutation_p.R195Q NM_032300.4 NP_115676.1 Q9BT92 TCHP_HUMAN trichoplein, keratin filament binding 195 Glu-rich.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding p.R195Q(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 GAAAGGGCCCGAAGGGAGGCG 0.517000 19 79 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185997708 185997708 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:185997708G>A ENST00000265022.3 - 9 1263 c.724C>T c.(724-726)Cta>Tta p.L242L DGKG_ENST00000382164.4_Silent_p.L242L|DGKG_ENST00000544847.1_Silent_p.L242L|DGKG_ENST00000344484.4_Silent_p.L242L NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 242 EF-hand 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CATTCCTGTAGAGACACAAAG 0.493000 42 125 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96770887 96770887 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:96770887A>G ENST00000359933.4 - 32 5680 c.4787T>C c.(4786-4788)gTa>gCa p.V1596A ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 1596 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TCCCCCACATACTGTATTACG 0.378000 72 26 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180907837 180907837 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:180907837G>A ENST00000367588.4 + 6 2963 c.2908G>A c.(2908-2910)Gtg>Atg p.V970M KIAA1614_ENST00000367587.1_Missense_Mutation_p.V591M NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 970 Ser-rich. NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 TGGAGGACATGTGCTGTCAAG 0.592000 10 18 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27703989 27703989 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:27703989C>T ENST00000260570.3 - 8 812 c.709G>A c.(709-711)Gac>Aac p.D237N IFT172_ENST00000359466.6_Missense_Mutation_p.D237N|IFT172_ENST00000416524.2_Missense_Mutation_p.D216N NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 237 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TCCTGAGGGTCACGGCTATAA 0.493000 9 43 0 0 1 0 0 MRPL53 116540 broad.mit.edu 37 2 74699739 74699739 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:74699739G>A ENST00000258105.7 - 1 710 c.49C>T c.(49-51)Cgg>Tgg p.R17W MRPL53_ENST00000409710.1_Missense_Mutation_p.R17W NM_053050.4 NP_444278.1 Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 17 mitochondrion|ribosome central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 AACTGAACCCGAACCTGTTTG 0.607000 21 70 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32963157 32963157 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:32963157G>C ENST00000321639.5 + 9 2167 c.1839G>C c.(1837-1839)ggG>ggC p.G613G NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 613 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) CCAGCCCTGGGAGCAGCCACA 0.642000 4 24 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119128351 119128351 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:119128351C>G ENST00000264245.4 + 11 2186 c.1654C>G c.(1654-1656)Cct>Gct p.P552A NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 552 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AGCTTCTGTACCTAAGAAGGC 0.532000 5 34 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2777023 2777023 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:2777023A>G ENST00000380605.2 - 9 1176 c.1112T>C c.(1111-1113)cTg>cCg p.L371P NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 371 Poly-Leu. cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CATCAGGAGCAGAAGCAACTC 0.637000 21 68 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56327796 56327796 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:56327796G>T ENST00000262290.4 + 7 910 c.594G>T c.(592-594)aaG>aaT p.K198N LPO_ENST00000421678.2_Missense_Mutation_p.K115N|LPO_ENST00000582328.1_Missense_Mutation_p.K115N|LPO_ENST00000543544.1_Missense_Mutation_p.K139N NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 198 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TATCTAACAAGATTGTTGGCT 0.488000 OREG0024609 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 38 6.12954e-19 6.60104e-19 1 1 0 SIGLEC5 8778 broad.mit.edu 37 19 52115563 52115563 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:52115563G>C ENST00000222107.4 - 9 1715 c.1577C>G c.(1576-1578)tCt>tGt p.S526C SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S526C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S526C|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S526C|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S526C O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 526 cell adhesion integral to membrane sugar binding p.S526Y(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTTCATCTCAGAAAAACTAAG 0.552000 74 56 0 0 1 0 0 THPO 7066 broad.mit.edu 37 3 184093744 184093744 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:184093744G>A ENST00000204615.7 - 3 287 c.73C>T c.(73-75)Cct>Tct p.P25S THPO_ENST00000445696.2_Missense_Mutation_p.P25S|THPO_ENST00000421442.2_Missense_Mutation_p.P25S|EIF2B5_ENST00000444495.1_Intron NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 25 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAAGCAGGAGGAGCCGGGCTG 0.517000 17 76 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151288629 151288629 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:151288629G>C ENST00000368875.2 - 3 945 c.365C>G c.(364-366)tCa>tGa p.S122* PI4KB_ENST00000368873.1_Nonsense_Mutation_p.S110*|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Nonsense_Mutation_p.S110*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.S122*|PI4KB_ENST00000368874.4_Nonsense_Mutation_p.S110* NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 110 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGCTGTGCCTGAGGCCACAGC 0.542000 37 242 0 0 1 0 0 FOXD4 2298 broad.mit.edu 37 9 116894 116894 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:116894G>C ENST00000382500.2 - 1 1523 c.1226C>G c.(1225-1227)tCg>tGg p.S409W NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 409 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 endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGCGGCCAGCGATGTCAGCCC 0.701000 64 41 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123290752 123290752 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:123290752G>A ENST00000253079.6 + 10 2105 c.1761G>A c.(1759-1761)ttG>ttA p.L587L CCDC62_ENST00000537566.1_Silent_p.L348L|CCDC62_ENST00000392440.2_Silent_p.L348L|CCDC62_ENST00000392441.4_Silent_p.L587L NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 587 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) AATCTGCCTTGAGAGAAGATG 0.358000 9 49 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 416230 416230 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:416230G>A ENST00000399788.2 - 24 4318 c.3956C>T c.(3955-3957)tCt>tTt p.S1319F KDM5A_ENST00000382815.4_Missense_Mutation_p.S1319F NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1319 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 GTTAAAAGCAGACTGCTGGAA 0.413000 T NUP98 AML 19 57 0 0 1 0 0 DNAJA1 3301 broad.mit.edu 37 9 33026543 33026543 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:33026543G>C ENST00000330899.4 + 2 244 c.61G>C c.(61-63)Gaa>Caa p.E21Q DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron NM_001539.2 NP_001530.1 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 21 J. protein folding|response to heat|response to unfolded protein membrane ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding large_intestine(2)|ovary(1)|skin(3) 6 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) TACTCAGGAAGAATTGAAAAA 0.388000 11 66 0 0 1 0 0 ANXA1 301 broad.mit.edu 37 9 75773674 75773674 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:75773674C>T ENST00000376911.1 + 2 1012 c.130C>T c.(130-132)Cca>Tca p.P44S ANXA1_ENST00000257497.6_Missense_Mutation_p.P44S P04083 ANXA1_HUMAN annexin A1 44 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) TACCTTCAATCCATCCTCGGA 0.448000 13 46 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43606971 43606971 + Silent SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:43606971G>T ENST00000360835.4 - 18 2466 c.2340C>A c.(2338-2340)acC>acA p.T780T NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 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) AGTCTGTGCTGGTGTTGCCCG 0.627000 18 39 6.94344e-10 7.32245e-10 1 1 0 GCM2 9247 broad.mit.edu 37 6 10876753 10876753 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:10876753C>T ENST00000379491.4 - 3 528 c.381G>A c.(379-381)ttG>ttA p.L127L RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 127 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) GACAAGGAATCAACTCCAAAG 0.502000 21 86 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41862508 41862508 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:41862508C>G ENST00000263798.3 + 11 1677 c.1453C>G c.(1453-1455)Cga>Gga p.R485G TYRO3_ENST00000559066.1_Missense_Mutation_p.R440G NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 485 integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.R485R(1)|p.R477R(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTCCTTCAATCGAGAAAGGCC 0.567000 31 35 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117046958 117046958 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:117046958G>A ENST00000368564.1 + 11 1192 c.1044G>A c.(1042-1044)ttG>ttA p.L348L KPNA5_ENST00000356348.1_Silent_p.L348L O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 345 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) TACATTTATTGAGTAGCCCAA 0.343000 9 49 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109056351 109056351 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:109056351G>T ENST00000335658.6 - 1 68 c.14C>A c.(13-15)tCc>tAc p.S5Y DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 5 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 AGAAGAAGCGGAGCCTCGCAA 0.498000 9 65 9.70103e-10 1.02194e-09 1 1 0 PPRC1 23082 broad.mit.edu 37 10 103899304 103899304 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:103899304G>A ENST00000278070.2 + 5 1078 c.1039G>A c.(1039-1041)Gag>Aag p.E347K PPRC1_ENST00000413464.2_Missense_Mutation_p.E347K NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 347 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) CGTAGTGCTGGAGATTGTGGG 0.607000 37 124 0 0 1 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641816 106641816 + RNA SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:106641816G>A ENST00000390605.2 - 0 156 TGAGGCCCCAGGCTTCTTCAC 0.587000 105 40 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385585 33385585 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:33385585C>A ENST00000541274.1 - 5 859 c.410G>T c.(409-411)gGg>gTg p.G137V AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CACCCCCCACCCCTCAACACA 0.602000 4 74 0.00116845 0.00118812 1 1 0 EHBP1 23301 broad.mit.edu 37 2 63175429 63175429 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:63175429G>A ENST00000263991.5 + 14 2035 c.1553G>A c.(1552-1554)cGa>cAa p.R518Q EHBP1_ENST00000354487.3_Missense_Mutation_p.R483Q|EHBP1_ENST00000405015.3_Missense_Mutation_p.R483Q|EHBP1_ENST00000405289.1_Missense_Mutation_p.R483Q|EHBP1_ENST00000431489.1_Missense_Mutation_p.R483Q NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 518 CH. cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GGAATTTCCCGATTATTGGAA 0.338000 15 71 0 0 1 0 0 SULT1B1 27284 broad.mit.edu 37 4 70620790 70620790 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:70620790G>C ENST00000310613.3 - 2 443 c.146C>G c.(145-147)tCa>tGa p.S49* NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 GAACTCACCTGATTTAGGATA 0.383000 24 48 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 156139409 156139409 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:156139409C>T ENST00000302490.8 + 2 1097 c.226C>T c.(226-228)Ctt>Ttt p.L76F KCNAB1_ENST00000490337.1_Missense_Mutation_p.L94F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.L83F|KCNAB1_ENST00000389636.5_Missense_Mutation_p.L94F|KCNAB1_ENST00000389634.5_Missense_Mutation_p.L76F NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 94 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTATAGGAATCTTGGAAAATC 0.463000 12 107 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179564679 179564679 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:179564679G>C ENST00000393371.2 - 2 507 c.211C>G c.(211-213)Cgc>Ggc p.R71G RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R71G Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 71 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATGAAGAGGCGAGAGCTCAGC 0.642000 12 24 0 0 1 0 0 C21orf91 54149 broad.mit.edu 37 21 19190540 19190540 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr21:19190540G>C ENST00000284881.4 - 2 186 c.96C>G c.(94-96)ttC>ttG p.F32L C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Missense_Mutation_p.F32L|C21orf91_ENST00000400558.3_Missense_Mutation_p.F32L NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 Q9NYK6 EURL_HUMAN chromosome 21 open reading frame 91 32 endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) AAATGTGGCAGAAGGAGAGTG 0.368000 7 33 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7812129 7812129 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:7812129C>T ENST00000380358.4 + 36 5554 c.5553C>T c.(5551-5553)ttC>ttT p.F1851F CHD3_ENST00000330494.7_Silent_p.F1792F|CHD3_ENST00000358181.4_Silent_p.F1758F NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1792 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) AAAATAAGTTCCTGGCCCGGA 0.483000 23 68 0 0 1 0 0 C17orf62 79415 broad.mit.edu 37 17 80402441 80402441 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:80402441C>T ENST00000437807.2 - 7 642 c.325G>A c.(325-327)Gat>Aat p.D109N C17orf62_ENST00000585080.1_Missense_Mutation_p.D109N|C17orf62_ENST00000578919.1_Missense_Mutation_p.D109N|C17orf62_ENST00000577732.1_Missense_Mutation_p.D109N|C17orf62_ENST00000578913.1_Missense_Mutation_p.D109N|C17orf62_ENST00000585064.1_Missense_Mutation_p.D109N|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000434650.2_Missense_Mutation_p.D95N|C17orf62_ENST00000577436.1_Missense_Mutation_p.D95N|C17orf62_ENST00000583617.1_Missense_Mutation_p.D109N|C17orf62_ENST00000342572.8_5'UTR|C17orf62_ENST00000306645.5_Missense_Mutation_p.D109N NM_001193653.1|NM_001193657.1 NP_001180582.1|NP_001180586.1 Q9BQA9 CQ062_HUMAN chromosome 17 open reading frame 62 109 integral to membrane protein binding breast(2)|large_intestine(2)|skin(2)|urinary_tract(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) ACGCTCACATCACGGACATCA 0.662000 50 35 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27001402 27001402 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:27001402G>A ENST00000314616.6 + 3 494 c.211G>A c.(211-213)Gag>Aag p.E71K SUPT6H_ENST00000347486.4_Missense_Mutation_p.E71K NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 71 Asp/Glu-rich. DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821). chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GGAGGAGGATGAGGGCAGTGA 0.493000 7 28 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75190015 75190015 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:75190015C>T ENST00000352410.4 + 8 1283 c.1216C>T c.(1216-1218)Ctg>Ttg p.L406L MPI_ENST00000566377.1_3'UTR|MPI_ENST00000323744.6_Silent_p.L345L|MPI_ENST00000563786.1_Silent_p.L386L|MPI_ENST00000535694.1_Silent_p.L356L P34949 MPI_HUMAN mannose phosphate isomerase 406 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GAGTGTCTCACTGAAGCTTAC 0.562000 18 54 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102496504 102496504 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:102496504G>A ENST00000360184.4 + 51 9932 c.9768G>A c.(9766-9768)atG>atA p.M3256I NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3256 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TCTAGGTTATGAGCCAAGAAA 0.428000 27 21 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 483444 483444 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:483444G>A ENST00000264938.3 - 6 1095 c.1086C>T c.(1084-1086)ttC>ttT p.F362F SLC9A3_ENST00000514375.1_Silent_p.F362F NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 362 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGGTCCAGATGAACGGGTTCA 0.637000 4 56 0 0 1 0 0 CENPU 79682 broad.mit.edu 37 4 185616478 185616478 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:185616478G>C ENST00000281453.5 - 13 1291 c.1221C>G c.(1219-1221)atC>atG p.I407M NM_024629.3 NP_078905.2 Q71F23 CENPU_HUMAN 407 CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1) 13 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) ACTGATGGTTGATATTTCGCA 0.403000 17 51 0 0 1 0 0 PYCARD 29108 broad.mit.edu 37 16 31213926 31213926 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:31213926G>T ENST00000247470.9 - 1 387 c.86C>A c.(85-87)tCg>tAg p.S29* PYCARD_ENST00000350605.4_Nonsense_Mutation_p.S29*|C16orf98_ENST00000561916.2_Missense_Mutation_p.R51L NM_013258.4 NP_037390.2 Q9ULZ3 ASC_HUMAN PYD and CARD domain containing 29 DAPIN. induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding NS(1)|kidney(1) 2 CAGCGGCACCGACAGCAGCTT 0.677000 12 76 5.50884e-06 5.71594e-06 1 1 0 PCDHGC4 56098 broad.mit.edu 37 5 140866533 140866533 + Nonsense_Mutation SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:140866533T>A ENST00000306593.1 + 1 1793 c.1793T>A c.(1792-1794)tTg>tAg p.L598* PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGTGGACTTGGATTCAGGT 0.582000 21 45 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330241 125330241 + Silent SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:125330241G>T ENST00000304865.2 - 1 597 c.516C>A c.(514-516)tcC>tcA p.S172S NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GGATAACATTGGAGTCACAGA 0.493000 16 43 6.31663e-08 6.6109e-08 1 1 0 ADD3 120 broad.mit.edu 37 10 111879036 111879036 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:111879036A>G ENST00000277900.8 + 7 1150 c.785A>G c.(784-786)tAt>tGt p.Y262C ADD3_ENST00000356080.4_Missense_Mutation_p.Y262C|ADD3_ENST00000360162.3_Missense_Mutation_p.Y262C NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 262 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GATGTTGCCTATTATGACTAC 0.428000 22 36 0 0 1 0 0 SIRT3 23410 broad.mit.edu 37 11 233208 233208 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:233208C>T ENST00000382743.4 - 3 583 c.481G>A c.(481-483)Ggg>Agg p.G161R SIRT3_ENST00000524564.1_Missense_Mutation_p.G97R|SIRT3_ENST00000529382.1_Missense_Mutation_p.G19R|SIRT3_ENST00000525319.1_Missense_Mutation_p.G80R|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000532956.1_Missense_Mutation_p.G161R NM_001017524.2|NM_012239.5 NP_001017524.1|NP_036371.1 Q9NTG7 SIRT3_HUMAN sirtuin 3 161 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) AGGCCACTCCCCGGCGATCTG 0.567000 10 27 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14952353 14952353 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrY:14952353G>A ENST00000338981.3 + 36 6846 c.5901G>A c.(5899-5901)atG>atA p.M1967I USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 1967 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 ATGATGAGATGATAAGATACA 0.373000 12 9 0 0 1 0 0 ZNF276 92822 broad.mit.edu 37 16 89799778 89799778 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:89799778C>A ENST00000289816.5 + 7 1325 c.1013C>A c.(1012-1014)cCg>cAg p.P338Q ZNF276_ENST00000446326.2_Missense_Mutation_p.P199Q|ZNF276_ENST00000443381.2_Missense_Mutation_p.P413Q|ZNF276_ENST00000568064.1_Missense_Mutation_p.P321Q NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CGGAAGAAGCCGGGACCCAAG 0.527000 78 36 1.16018e-38 1.26494e-38 1 1 0 TMPRSS7 344805 broad.mit.edu 37 3 111794194 111794194 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:111794194C>G ENST00000452346.2 + 15 1813 c.1810C>G c.(1810-1812)Cac>Gac p.H604D TMPRSS7_ENST00000419127.1_Missense_Mutation_p.H478D Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 604 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CTCCGCCCTTCACCGCATCAT 0.537000 27 134 0 0 1 0 0 PTPLAD2 401494 broad.mit.edu 37 9 21015926 21015926 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:21015926G>A ENST00000495827.2 - 4 399 c.354C>T c.(352-354)ttC>ttT p.F118F PTPLAD2_ENST00000488436.1_5'UTR|PTPLAD2_ENST00000513293.2_Silent_p.F118F NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TCCAAAAGACGAATAAAACAC 0.363000 7 77 0 0 1 0 0 RHOJ 57381 broad.mit.edu 37 14 63671662 63671662 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:63671662G>A ENST00000316754.3 + 1 537 c.75G>A c.(73-75)gtG>gtA p.V25V RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.V25V NM_020663.4 NP_065714.1 Q9H4E5 RHOJ_HUMAN ras homolog family member J 25 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) TGAAGTGTGTGGTGGTGGGGG 0.582000 23 16 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152528918 152528918 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:152528918C>T ENST00000427231.2 - 37 4466 c.4264G>A c.(4264-4266)Gag>Aag p.E1422K NEB_ENST00000604864.1_Missense_Mutation_p.E1422K|NEB_ENST00000603639.1_Missense_Mutation_p.E1422K|NEB_ENST00000409198.1_Missense_Mutation_p.E1422K|NEB_ENST00000172853.10_Missense_Mutation_p.E1422K|NEB_ENST00000397345.3_Missense_Mutation_p.E1422K NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 1422 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCGTATGCTCAAGACTCATG 0.428000 11 30 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59989420 59989420 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:59989420G>T ENST00000444766.3 - 6 760 c.685C>A c.(685-687)Ctg>Atg p.L229M INTS2_ENST00000251334.6_Missense_Mutation_p.L221M NM_020748.2 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 229 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 TTTTTTATCAGGCCCCTACAA 0.408000 61 86 1.42676e-28 1.54686e-28 1 1 0 NUS1 116150 broad.mit.edu 37 6 118024866 118024866 + Splice_Site SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:118024866G>T ENST00000368494.3 + 4 959 c.790G>T c.(790-792)Gtc>Ttc p.V264F NM_138459.3 NP_612468.1 Q96E22 NGBR_HUMAN nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) 264 angiogenesis|cell differentiation integral to membrane receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2) 8 all_cancers(87;0.0395)|all_epithelial(87;0.0301) GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146) GACTGAGATTGTGTAAGTAAT 0.398000 28 37 2.48779e-11 2.63221e-11 1 1 0 KIAA1432 57589 broad.mit.edu 37 9 5774178 5774178 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:5774178G>A ENST00000414202.2 + 26 4395 c.4204G>A c.(4204-4206)Gag>Aag p.E1402K KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1323K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1286K NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1402 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCGGAAAGAGGAGGACACAGC 0.552000 20 84 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17918757 17918757 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:17918757G>A ENST00000318683.6 + 2 288 c.141G>A c.(139-141)ctG>ctA p.L47L B3GNT3_ENST00000595387.1_Silent_p.L47L NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 47 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 CCGAGGCCCTGGCCTGGCCCA 0.682000 6 24 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064634 7064634 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:7064634T>C ENST00000299481.4 + 4 1723 c.1377T>C c.(1375-1377)agT>agC p.S459S NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 459 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGTCTCTAGTTTTATGGACA 0.403000 26 34 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57487120 57487120 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:57487120G>C ENST00000351747.2 - 11 1443 c.1263C>G c.(1261-1263)ctC>ctG p.L421L DNAH12_ENST00000311202.6_Silent_p.L421L|DNAH12_ENST00000389536.4_Silent_p.L421L NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 421 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.L422F(2) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 TCCCATCAAGGAGCCAATTAT 0.279000 8 52 0 0 1 0 0 DKK4 27121 broad.mit.edu 37 8 42234537 42234537 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:42234537C>T ENST00000220812.2 - 1 213 c.27G>A c.(25-27)ctG>ctA p.L9L NM_014420.2 NP_055235.1 Q9UBT3 DKK4_HUMAN dickkopf WNT signaling pathway inhibitor 4 9 multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024) AGAGCCAGCTCAGCCCCAGCA 0.642000 14 18 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310113 57310113 + Splice_Site SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:57310113G>C ENST00000457912.1 + 2 52 c.e2-1 SMTNL1_ENST00000527972.1_5'Flank E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 TCTCTTTCCAGAGATGGAGCA 0.607000 10 22 0 0 1 0 0 ANKRD40 91369 broad.mit.edu 37 17 48777205 48777205 + Silent SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:48777205C>A ENST00000285243.6 - 3 602 c.333G>T c.(331-333)ctG>ctT p.L111L NM_052855.3 NP_443087.1 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 111 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) ACTCCTTCTTCAGCTGGGGGA 0.423000 17 22 9.16793e-09 9.6368e-09 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158648216 158648216 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:158648216C>T ENST00000368147.4 - 6 967 c.787G>A c.(787-789)Gct>Act p.A263T 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) AAGTTTGCAGCATTGGACAGA 0.433000 18 96 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50367631 50367631 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:50367631G>A ENST00000322344.3 - 5 637 c.528C>T c.(526-528)ctC>ctT p.L176L PNKP_ENST00000600573.1_Silent_p.L176L|PNKP_ENST00000596014.1_Silent_p.L176L|PNKP_ENST00000600910.1_Silent_p.L176L NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 176 L -> F (in MCSZ). DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GTGTGGTGATGAGCGTCCCGT 0.567000 Other BER factors 35 81 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032069 26032069 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:26032069C>T ENST00000244661.2 - 1 219 c.220G>A c.(220-222)Gaa>Aaa p.E74K NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 74 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.E74K(5) breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 TGGGCGATTTCTCGCACCAGG 0.607000 43 128 0 0 1 0 0 GRAMD3 65983 broad.mit.edu 37 5 125828638 125828638 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:125828638A>G ENST00000285689.3 + 14 1750 c.1289A>G c.(1288-1290)aAt>aGt p.N430S GRAMD3_ENST00000515200.1_Missense_Mutation_p.N408S|GRAMD3_ENST00000542322.1_Missense_Mutation_p.N438S|GRAMD3_ENST00000513040.1_Missense_Mutation_p.N445S|GRAMD3_ENST00000544396.1_Missense_Mutation_p.N326S|GRAMD3_ENST00000502348.1_Missense_Mutation_p.N321S|GRAMD3_ENST00000511134.1_Missense_Mutation_p.N414S|GRAMD3_ENST00000543198.1_3'UTR NM_023927.2 NP_076416.2 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 430 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) TTGCTTGAGAATGGTGACTGA 0.378000 21 41 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31478736 31478736 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:31478736T>C ENST00000373747.3 - 5 783 c.684A>G c.(682-684)tcA>tcG p.S228S PUM1_ENST00000423018.2_Intron|PUM1_ENST00000426105.2_Silent_p.S228S|PUM1_ENST00000373741.4_Silent_p.S264S|PUM1_ENST00000257075.5_Silent_p.S228S|PUM1_ENST00000440538.2_Silent_p.S228S|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373742.2_Intron NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 228 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CGCCCGGGGATGAGCTCAACA 0.488000 12 33 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117984006 117984006 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:117984006T>C ENST00000534111.1 + 9 1025 c.760T>C c.(760-762)Tgg>Cgg p.W254R TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.W251R|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.W216R|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.W256R|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.W109R NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 256 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TGTGTTCAACTGGAAGGTGCG 0.557000 75 89 0 0 1 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134477050 134477050 + Silent SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:134477050C>G ENST00000319914.5 - 6 1681 c.654G>C c.(652-654)gtG>gtC p.V218V ST3GAL1_ENST00000522652.1_Silent_p.V218V|ST3GAL1_ENST00000521180.1_Silent_p.V218V|ST3GAL1_ENST00000399640.2_Silent_p.V218V Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 218 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) TGATGGCGCTCACCACCCACT 0.637000 28 51 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27001630 27001630 + Splice_Site SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:27001630G>C ENST00000314616.6 + 4 627 c.344G>C c.(343-345)gGa>gCa p.G115A SUPT6H_ENST00000347486.4_Splice_Site_p.G115A NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 115 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GTCAAAAGAGGAGTAAGTGTC 0.458000 23 69 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211421493 211421493 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:211421493G>C ENST00000233072.5 + 1 232 c.36G>C c.(34-36)agG>agC p.R12S CPS1_ENST00000430249.2_Missense_Mutation_p.R18S NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 12 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AAGTGGTGAGGACACTGAAGA 0.368000 7 43 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647952 121647952 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:121647952C>G ENST00000489711.1 + 16 1853 c.1465C>G c.(1465-1467)Ctt>Gtt p.L489V SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.L458V NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 489 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CTGGTACAGTCTTGTCATTCG 0.408000 22 168 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29162810 29162810 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:29162810G>A ENST00000321990.4 + 2 2089 c.1711G>A c.(1711-1713)Gat>Aat p.D571N CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 571 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ACCAGTTAAAGATATTAAGCT 0.368000 11 52 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131620621 131620621 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:131620621G>C ENST00000261654.5 + 22 2866 c.2307G>C c.(2305-2307)ctG>ctC p.L769L GPR133_ENST00000535015.1_Silent_p.L801L|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Silent_p.L288L|GPR133_ENST00000376682.4_Silent_p.L455L NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 769 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) TGCCCATCCTGGGTACCTCGT 0.602000 17 29 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98569460 98569460 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:98569460G>C ENST00000359863.4 + 52 7919 c.7710G>C c.(7708-7710)caG>caC p.Q2570H TRRAP_ENST00000355540.3_Missense_Mutation_p.Q2552H|TRRAP_ENST00000446306.3_Missense_Mutation_p.Q2552H NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2570 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTGGGGATCAGACCAGCACGC 0.458000 62 133 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43970992 43970992 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:43970992C>T ENST00000282406.4 + 23 3529 c.3419C>T c.(3418-3420)tCt>tTt p.S1140F NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1140 FERM. cytoplasm|cytoskeleton|integral to membrane binding p.S1140F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTTGACGCATCTACCACAGTG 0.388000 5 51 0 0 1 0 0 LOH12CR1 118426 broad.mit.edu 37 12 12588569 12588569 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:12588569G>A ENST00000314565.4 + 3 541 c.210G>A c.(208-210)ttG>ttA p.L70L LOH12CR1_ENST00000542728.1_Silent_p.L51L|LOH12CR1_ENST00000298571.6_Silent_p.L22L NM_058169.3 NP_477517.1 Q969J3 L12R1_HUMAN loss of heterozygosity, 12, chromosomal region 1 70 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.0205) AAGGGCTATTGAGTGGCCAGA 0.403000 27 78 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81235439 81235439 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:81235439G>C ENST00000394685.3 + 28 4272 c.3853G>C c.(3853-3855)Gac>Cac p.D1285H KIAA1199_ENST00000220244.3_Missense_Mutation_p.D1285H|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.D1285H Q8WUJ3 K1199_HUMAN KIAA1199 1285 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GACCATCCCTGACAAGTGAGT 0.572000 50 157 0 0 1 0 0 SKAP2 8935 broad.mit.edu 37 7 26709767 26709767 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:26709767G>A ENST00000345317.2 - 12 1345 c.1032C>T c.(1030-1032)gcC>gcT p.A344A SKAP2_ENST00000539623.1_Silent_p.A172A NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 344 SH3. B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 CCAAGCCAATGGCTCCCTTCA 0.363000 9 29 0 0 1 0 0 TSPAN14 81619 broad.mit.edu 37 10 82269104 82269104 + Silent SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:82269104C>G ENST00000429989.3 + 5 550 c.327C>G c.(325-327)gcC>gcG p.A109A TSPAN14_ENST00000372158.1_Silent_p.A109A|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000372164.3_Silent_p.A92A|TSPAN14_ENST00000372156.1_Silent_p.A109A|TSPAN14_ENST00000481124.1_Intron NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) TGGCTGTGGCCGTGCTGGCCT 0.607000 19 29 0 0 1 0 0 CLHC1 130162 broad.mit.edu 37 2 55439866 55439866 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:55439866C>A ENST00000401408.1 - 5 787 c.442G>T c.(442-444)Gac>Tac p.D148Y CLHC1_ENST00000406076.1_Missense_Mutation_p.D26Y|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.D148Y NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 TCTTTTGTGTCATACTCTGCC 0.323000 6 24 8.12818e-05 8.34413e-05 1 1 0 C19orf44 84167 broad.mit.edu 37 19 16612042 16612042 + Missense_Mutation SNP A A C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:16612042A>C ENST00000221671.3 + 2 595 c.439A>C c.(439-441)Aca>Cca p.T147P C19orf44_ENST00000594035.1_Missense_Mutation_p.T147P|CTD-3222D19.2_ENST00000409035.1_Intron NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 147 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 GTCCCAGAACACAGACAAAAC 0.502000 20 72 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12159682 12159682 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:12159682C>T ENST00000263035.4 + 14 2392 c.2330C>T c.(2329-2331)tCa>tTa p.S777L NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 777 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GCAGCCGTGTCAACTCTTCAA 0.448000 32 97 0 0 1 0 0 OGG1 4968 broad.mit.edu 37 3 9793520 9793520 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:9793520A>G ENST00000302036.7 + 3 795 c.452A>G c.(451-453)aAc>aGc p.N151S OGG1_ENST00000349503.5_Missense_Mutation_p.N151S|OGG1_ENST00000339511.5_Missense_Mutation_p.N151S|OGG1_ENST00000302003.7_Missense_Mutation_p.N151S|OGG1_ENST00000302008.8_Missense_Mutation_p.N151S|OGG1_ENST00000383826.5_Missense_Mutation_p.N151S|OGG1_ENST00000449570.2_Missense_Mutation_p.N151S|OGG1_ENST00000344629.7_Missense_Mutation_p.N151S NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 151 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) TCCAACAACAACATCGCCCGC 0.557000 Base excision repair (BER), DNA glycosylases 37 126 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79092237 79092237 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:79092237C>T ENST00000326724.4 - 14 4114 c.4090G>A c.(4090-4092)Gaa>Aaa p.E1364K AATK_ENST00000417379.1_Missense_Mutation_p.E1261K NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1364 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCACCAGCTTCAGGTCCTGGC 0.642000 3 11 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049770 9049770 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:9049770C>A ENST00000397910.4 - 5 32064 c.31861G>T c.(31861-31863)Gaa>Taa p.E10621* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10623 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 GTGTCTAATTCACTGTGGAAA 0.473000 13 79 1.3612e-06 1.42e-06 1 1 0 KIAA0100 9703 broad.mit.edu 37 17 26951373 26951373 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:26951373C>T ENST00000528896.2 - 25 4704 c.4630G>A c.(4630-4632)Gat>Aat p.D1544N KIAA0100_ENST00000544884.1_Missense_Mutation_p.D1401N|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D1401N NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1544 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) ACAAACCTATCTGTCTCTTCA 0.468000 24 62 0 0 1 0 0 MVB12A 93343 broad.mit.edu 37 19 17535761 17535761 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:17535761G>C ENST00000317040.7 + 9 1836 c.781G>C c.(781-783)Gag>Cag p.E261Q MVB12A_ENST00000529939.1_Intron|MVB12A_ENST00000543795.1_Missense_Mutation_p.E261Q|MVB12A_ENST00000392702.2_Missense_Mutation_p.E221Q multivesicular body subunit 12A CTTCGTGGTGGAGAAGACCGC 0.632000 OREG0025346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 162 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 887506 887506 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:887506G>A ENST00000323510.4 - 3 338 c.339C>T c.(337-339)atC>atT p.I113I BRD9_ENST00000435709.2_Silent_p.I113I|BRD9_ENST00000388890.4_Silent_p.I113I|BRD9_ENST00000467963.1_Silent_p.I229I|BRD9_ENST00000483173.1_Silent_p.I176I Q9H8M2 BRD9_HUMAN bromodomain containing 9 229 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CTGCGTGAAGGATCTTCTTCG 0.488000 66 713 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154517526 154517526 + Silent SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:154517526C>G ENST00000409663.3 + 20 2161 c.2109C>G c.(2107-2109)ctC>ctG p.L703L KIAA0922_ENST00000440693.1_Silent_p.L620L|KIAA0922_ENST00000409959.3_Silent_p.L704L NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 703 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) TTACCTCACTCATACTAATCC 0.418000 25 57 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156255264 156255264 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:156255264C>T ENST00000405535.2 + 2 418 c.247C>T c.(247-249)Cag>Tag p.Q83* TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Nonsense_Mutation_p.Q83*|TMEM79_ENST00000495881.1_3'UTR NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 83 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) GACTGGCCCTCAGCCCAGTGC 0.622000 17 54 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144803404 144803404 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:144803404C>T ENST00000367545.3 + 26 3567 c.3567C>T c.(3565-3567)atC>atT p.I1189I NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1189 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AGGACAACATCAAGTTATTAG 0.458000 17 44 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58015503 58015503 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:58015503C>T ENST00000379218.2 + 4 897 c.586C>T c.(586-588)Cgg>Tgg p.R196W SLC26A10_ENST00000320442.4_Missense_Mutation_p.R196W Q8NG04 S2610_HUMAN solute carrier family 26, member 10 196 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) TGCGCTGCCTCGGAGCAGTCC 0.697000 OREG0021948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 13 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96466665 96466665 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:96466665A>T ENST00000285979.6 + 5 966 c.767A>T c.(766-768)gAc>gTc p.D256V CYP2C18_ENST00000339022.5_Intron|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GAATCCCTGGACATGAACAGT 0.338000 8 19 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453714 84453714 + Silent SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:84453714C>G ENST00000377084.2 - 1 2814 c.1929G>C c.(1927-1929)ctG>ctC p.L643L NM_001281503.1|NM_052910.1 NP_001268432.1|NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 643 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) TTCGGTTCCTCAGGATAAACA 0.567000 12 22 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114276537 114276537 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:114276537G>C ENST00000357077.4 + 38 6816 c.6763G>C c.(6763-6765)Gag>Cag p.E2255Q ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2222Q|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2222 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAAGAAAAGTGAGGAGCAAAC 0.468000 15 33 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57060627 57060627 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:57060627A>T ENST00000436936.1 + 6 1997 c.1772A>T c.(1771-1773)aAg>aTg p.K591M NLRC5_ENST00000262510.6_Missense_Mutation_p.K591M|NLRC5_ENST00000308149.7_Missense_Mutation_p.K591M|NLRC5_ENST00000539144.1_Missense_Mutation_p.K591M Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 591 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GTGGGTGCCAAGCAGGCTGCT 0.612000 29 19 0 0 1 0 0 ACAA1 30 broad.mit.edu 37 3 38167707 38167707 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:38167707C>A ENST00000333167.8 - 9 1115 c.943G>T c.(943-945)Gac>Tac p.D315Y ACAA1_ENST00000301810.7_Intron|ACAA1_ENST00000544624.1_3'UTR|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.D274Y NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 315 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) CCCATGATGTCAGGTGGGACC 0.572000 6 81 2.7689e-08 2.90418e-08 1 1 0 GRIA2 2891 broad.mit.edu 37 4 158257000 158257000 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:158257000A>G ENST00000296526.7 + 10 1769 c.1444A>G c.(1444-1446)Aat>Gat p.N482D GRIA2_ENST00000449365.1_Missense_Mutation_p.N435D|GRIA2_ENST00000507898.1_Missense_Mutation_p.N435D|GRIA2_ENST00000393815.2_Missense_Mutation_p.N435D|GRIA2_ENST00000264426.9_Missense_Mutation_p.N482D NM_000826.3 NP_000817 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 482 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GAAAATTTGGAATGGGATGGT 0.433000 14 17 0 0 1 0 0 AZU1 566 broad.mit.edu 37 19 829604 829604 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:829604G>A ENST00000233997.2 + 3 279 c.258G>A c.(256-258)ctG>ctA p.L86L NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 86 Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCTATGACCTGAGGCGGCGGG 0.632000 28 85 0 0 1 0 0 CALR 811 broad.mit.edu 37 19 13050907 13050907 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:13050907C>T ENST00000316448.5 + 4 511 c.438C>T c.(436-438)gtC>gtT p.V146V NM_004343.3 NP_004334.1 P27797 CALR_HUMAN calreticulin 146 N-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(1) 10 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGTTCATGTCATCTTCAACT 0.527000 21 44 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52429619 52429619 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:52429619C>T ENST00000420323.2 + 70 11445 c.11184C>T c.(11182-11184)ttC>ttT p.F3728F NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3793 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AATGGGTCTTCTTCCAGAACT 0.622000 7 39 0 0 1 0 0 KCNN1 3780 broad.mit.edu 37 19 18092644 18092644 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:18092644T>C ENST00000222249.9 + 5 944 c.625T>C c.(625-627)Tgg>Cgg p.W209R NM_002248.3 NP_002239.2 Q92952 KCNN1_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 8 CCGCTTCACGTGGACGGCGCG 0.677000 10 26 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17757811 17757811 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:17757811G>A ENST00000379472.3 + 1 292 c.262G>A c.(262-264)Gag>Aag p.E88K KCNC1_ENST00000265969.6_Missense_Mutation_p.E88K NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 88 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GCCGCTCTACGAGGAGGAGCT 0.672000 11 29 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59166463 59166463 + Silent SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr18:59166463C>A ENST00000262717.4 + 3 689 c.291C>A c.(289-291)atC>atA p.I97I CDH20_ENST00000536675.2_Silent_p.I97I|CDH20_ENST00000538374.1_Silent_p.I97I Q9HBT6 CAD20_HUMAN cadherin 20, type 2 97 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TCAAATACATCCTCTCGGGAG 0.498000 6 22 2.0095e-06 2.09178e-06 1 1 0 OR10J3 441911 broad.mit.edu 37 1 159284182 159284182 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:159284182G>A ENST00000332217.5 - 1 267 c.268C>T c.(268-270)Cat>Tat p.H90Y NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) ATGGGCTGATGAGGATTCAAG 0.502000 15 369 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78936676 78936676 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:78936676G>A ENST00000453514.1 + 5 1161 c.468G>A c.(466-468)ttG>ttA p.L156L PAPD4_ENST00000296783.3_Silent_p.L156L|PAPD4_ENST00000428308.2_Silent_p.L156L|PAPD4_ENST00000423041.2_Silent_p.L156L|PAPD4_ENST00000504233.1_Silent_p.L156L NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 156 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) GATTCAAGTTGAGTCAGCAGA 0.338000 7 14 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124951219 124951219 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:124951219G>A ENST00000360647.4 - 9 2836 c.2351C>T c.(2350-2352)tCa>tTa p.S784L ZNF148_ENST00000468369.1_Missense_Mutation_p.S134L|ZNF148_ENST00000484491.1_Missense_Mutation_p.S784L|ZNF148_ENST00000544464.1_Missense_Mutation_p.S121L|ZNF148_ENST00000492394.1_Missense_Mutation_p.S784L|ZNF148_ENST00000485866.1_Missense_Mutation_p.S784L|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 784 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 GGCATCAGGTGAAGATGTCAT 0.408000 18 61 0 0 1 0 0 SOX8 30812 broad.mit.edu 37 16 1033751 1033751 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:1033751G>A ENST00000293894.3 + 2 561 c.446G>A c.(445-447)cGg>cAg p.R149Q NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 149 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) AGCGAGAAGCGGCCCTTCGTG 0.677000 17 33 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27001432 27001432 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:27001432G>A ENST00000314616.6 + 3 524 c.241G>A c.(241-243)Gat>Aat p.D81N SUPT6H_ENST00000347486.4_Missense_Mutation_p.D81N NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 81 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TTCAGAAGATGATGTTGGCCA 0.493000 7 30 0 0 1 0 0 H1FX 8971 broad.mit.edu 37 3 129034689 129034689 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:129034689C>T ENST00000333762.4 - 1 431 c.57G>A c.(55-57)aaG>aaA p.K19K H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA NM_006026.3 NP_006017.1 Q92522 H1X_HUMAN H1 histone family, member X 19 nucleosome assembly nucleosome|nucleus DNA binding kidney(1)|ovary(1)|urinary_tract(2) 4 TGGTCACCTTCTTGGCCATTC 0.642000 3 13 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159650896 159650896 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:159650896C>T ENST00000297267.9 + 10 1430 c.1230C>T c.(1228-1230)tcC>tcT p.S410S FNDC1_ENST00000340366.6_Intron NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 410 Fibronectin type-III 4. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GAGCAAAGTCCCTCACCTATC 0.502000 57 207 0 0 1 0 0 MFN1 55669 broad.mit.edu 37 3 179096596 179096596 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:179096596C>T ENST00000471841.1 + 14 1782 c.1656C>T c.(1654-1656)atC>atT p.I552I MFN1_ENST00000280653.7_Intron|MFN1_ENST00000263969.5_Silent_p.I552I NM_033540.2 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 552 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CAGAGCCTATCTTTCAGGTAT 0.358000 11 43 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139118 178139118 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:178139118G>A ENST00000335815.2 - 5 1958 c.1761C>T c.(1759-1761)ttC>ttT p.F587F NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 587 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) ACCTATGGTTGAAAAGTTTCC 0.363000 7 31 0 0 1 0 0 IL17RB 55540 broad.mit.edu 37 3 53891011 53891011 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:53891011G>A ENST00000288167.3 + 7 679 c.670G>A c.(670-672)Gag>Aag p.E224K NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 224 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) TCAGGTGTTTGAGGTACTTTT 0.478000 20 115 0 0 1 0 0 RHEB 6009 broad.mit.edu 37 7 151181846 151181846 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:151181846G>A ENST00000262187.5 - 3 581 c.169C>T c.(169-171)Caa>Taa p.Q57* RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR NM_005614.3 NP_005605.1 Q15382 RHEB_HUMAN Ras homolog enriched in brain 57 cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|metal ion binding|protein binding breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7) 14 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) TCTACAAGTTGAAGATGATAT 0.353000 15 23 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135602802 135602802 + Splice_Site SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:135602802G>A ENST00000356140.5 + 2 193 c.e2-1 AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Splice_Site|ACMSD_ENST00000283054.4_Splice_Site NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) CCCCACTGCAGAGGTTTGGCT 0.522000 21 49 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123255642 123255642 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:123255642C>T ENST00000264501.4 + 69 12163 c.11790C>T c.(11788-11790)tcC>tcT p.S3930S KIAA1109_ENST00000388738.3_Silent_p.S3930S Q2LD37 K1109_HUMAN KIAA1109 3930 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CTTTACCTTCCACTGTCCAGA 0.438000 14 31 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89053943 89053943 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:89053943A>G ENST00000286614.6 - 10 1851 c.1570T>C c.(1570-1572)Tcc>Ccc p.S524P NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 524 Hemopexin-like 4. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TTGAGGATGGATCTTGGATAT 0.418000 18 23 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407469 38407469 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:38407469G>A ENST00000361085.5 + 7 1735 c.1390G>A c.(1390-1392)Gag>Aag p.E464K ZNF37A_ENST00000351773.3_Missense_Mutation_p.E464K NM_001178101.1|NM_003421.2 NP_001171572.1|NP_003412.1 P17032 ZN37A_HUMAN zinc finger protein 37A nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 ACACACAGGGGAGAAACCTTT 0.413000 11 25 0 0 1 0 0 PSMD11 5717 broad.mit.edu 37 17 30796165 30796165 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:30796165C>T ENST00000261712.3 + 6 860 c.597C>T c.(595-597)gcC>gcT p.A199A PSMD11_ENST00000457654.2_Silent_p.A199A NM_001270482.1|NM_002815.3 NP_001257411.1|NP_002806.2 O00231 PSD11_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 199 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) CAGCAAATGCCATCTACTGCC 0.478000 11 47 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24509744 24509744 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:24509744T>C ENST00000264463.4 - 7 1694 c.1187A>G c.(1186-1188)gAt>gGt p.D396G NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 396 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CACTTCAATATCTTCATGAAC 0.393000 HNSCC(23;0.051) 17 60 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160851891 160851891 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:160851891C>T ENST00000326245.3 - 4 376 c.261G>A c.(259-261)gaG>gaA p.E87E NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 87 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCATGTCATTCTCGTGCACGC 0.597000 22 450 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134134 128134134 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:128134134G>A ENST00000368250.1 - 5 1913 c.1415C>T c.(1414-1416)tCa>tTa p.S472L THEMIS_ENST00000543064.1_Missense_Mutation_p.S551L|THEMIS_ENST00000537166.1_Missense_Mutation_p.S516L|THEMIS_ENST00000368248.2_Missense_Mutation_p.S551L Q8N1K5 THMS1_HUMAN thymocyte selection associated 551 CABIT 2. 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 TGGGGGATGTGAGGCTGAGCT 0.478000 22 97 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52660686 52660686 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:52660686C>G ENST00000322146.8 - 5 771 c.250G>C c.(250-252)Gaa>Caa p.E84Q CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.E84Q NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TAAAAATTTTCAACATCATAA 0.343000 12 28 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 83949352 83949352 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:83949352G>T ENST00000369705.3 - 8 934 c.818C>A c.(817-819)aCa>aAa p.T273K ME1_ENST00000541327.1_Missense_Mutation_p.T107K|ME1_ENST00000543031.1_Missense_Mutation_p.T198K NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 273 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) AACAGATGCTGTTCCTGAAAC 0.368000 3 33 0.115264 0.115623 1 1 0 TP53BP2 7159 broad.mit.edu 37 1 223976731 223976731 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:223976731G>A ENST00000391878.2 - 17 3523 c.2755C>T c.(2755-2757)Cag>Tag p.Q919* TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Nonsense_Mutation_p.Q1048*|TP53BP2_ENST00000391879.2_Nonsense_Mutation_p.Q281* NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 1042 Mediates interaction with APC2. apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TGGGAGCACTGAGTGTAGCCT 0.408000 45 60 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50213562 50213562 + RNA SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:50213562G>A ENST00000376025.2 - 0 175 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) agccggcggcggagccggtgg 0.716000 9 19 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67322086 67322086 + Silent SNP G G A rs147886474 byFrequency TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:67322086G>A ENST00000360461.5 + 19 5772 c.3237G>A c.(3235-3237)gcG>gcA p.A1079A PLEKHG4_ENST00000427155.2_Silent_p.A1079A|PLEKHG4_ENST00000379344.3_Silent_p.A1079A|PLEKHG4_ENST00000450733.1_Silent_p.A998A NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 1079 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GCTCTCGGGCGTCCATTGCCG 0.607000 54 32 0 0 1 0 0 RTP2 344892 broad.mit.edu 37 3 187416376 187416376 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:187416376G>A ENST00000358241.1 - 2 1016 c.588C>T c.(586-588)ttC>ttT p.F196F NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 196 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) GAAGAGACAAGAAGTTGTAGC 0.582000 10 54 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36220083 36220083 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:36220083C>T ENST00000420124.1 + 22 4803 c.4803C>T c.(4801-4803)atC>atT p.I1601I KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Silent_p.I1601I lysine (K)-specific methyltransferase 2B TCTTGTACATCGGGCAGAACG 0.627000 6 17 0 0 1 0 0 GNAQ 2776 broad.mit.edu 37 9 80409445 80409445 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:80409445G>A ENST00000286548.4 - 5 891 c.669C>T c.(667-669)gtC>gtT p.V223V GNAQ_ENST00000397476.3_Silent_p.V21V NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 223 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 TGATAGAGGTGACATTTTCAA 0.378000 Mis uveal melanoma 11 39 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23085191 23085191 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:23085191C>T ENST00000219689.7 - 14 2186 c.2187G>A c.(2185-2187)aaG>aaA p.K729K NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 729 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CCACAGAGTTCTTACAGTACG 0.552000 24 44 0 0 1 0 0 PYGO2 90780 broad.mit.edu 37 1 154931355 154931355 + Missense_Mutation SNP G G A rs141762356 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:154931355G>A ENST00000368457.2 - 3 1292 c.1121C>T c.(1120-1122)tCt>tTt p.S374F PYGO2_ENST00000368456.1_Missense_Mutation_p.S337F NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 374 Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCAGACGGCAGAAGCTTCAGT 0.587000 14 44 0 0 1 0 0 SLC39A6 25800 broad.mit.edu 37 18 33691099 33691099 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr18:33691099G>A ENST00000269187.5 - 9 2251 c.2038C>T c.(2038-2040)Cat>Tat p.H680Y SLC39A6_ENST00000590986.1_Missense_Mutation_p.H680Y|SLC39A6_ENST00000440549.2_Missense_Mutation_p.H405Y NM_012319.3 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 680 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 TCAGCATAATGACCAATGAAA 0.388000 13 26 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75836144 75836144 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:75836144C>T ENST00000322507.8 - 39 6692 c.6383G>A c.(6382-6384)tGg>tAg p.W2128* COL12A1_ENST00000483888.2_Nonsense_Mutation_p.W2128*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.W964*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.W2128* NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2128 Fibronectin type-III 17. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TCTTGTATACCATTCGTCAGA 0.433000 20 39 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121739614 121739614 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:121739614G>C ENST00000264808.3 - 5 784 c.544C>G c.(544-546)Ctt>Gtt p.L182V PRDM5_ENST00000428209.2_Missense_Mutation_p.L182V|PRDM5_ENST00000515109.1_Missense_Mutation_p.L182V NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 182 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TGCTCAGCAAGAATATCCTCA 0.433000 9 31 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466417 56466417 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:56466417G>A ENST00000291971.3 + 3 1064 c.993G>A c.(991-993)ctG>ctA p.L331L NLRP8_ENST00000590542.1_Silent_p.L331L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 331 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CCACGCTACTGATCATGATAA 0.488000 46 77 0 0 1 0 0 PAK2 5062 broad.mit.edu 37 3 196509530 196509530 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:196509530G>T ENST00000327134.3 + 2 335 c.13G>T c.(13-15)Gga>Tga p.G5* NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 5 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) GTCTGATAACGGAGAACTGGA 0.398000 33 185 1.62565e-12 1.72949e-12 1 1 0 FER 2241 broad.mit.edu 37 5 108281874 108281874 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:108281874C>T ENST00000536402.1 + 8 1205 c.967C>T c.(967-969)Caa>Taa p.Q323* FER_ENST00000281092.4_Missense_Mutation_p.S427L|FER_ENST00000438717.2_Missense_Mutation_p.S252L P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 0 intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) ATTCGTCATTCAATTGCTGGA 0.393000 18 59 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21159396 21159396 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:21159396G>A ENST00000255882.6 - 11 1312 c.1226C>T c.(1225-1227)aCg>aTg p.T409M PI4KA_ENST00000572273.1_Missense_Mutation_p.T351M NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 351 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCCCTGGCTCGTGTTGAACTG 0.532000 13 48 0 0 1 0 0 C10orf95 79946 broad.mit.edu 37 10 104211153 104211153 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:104211153C>G ENST00000239125.1 - 1 147 c.73G>C c.(73-75)Gaa>Caa p.E25Q RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000596366.1_RNA NM_024886.1 NP_079162.1 Q9H7T3 CJ095_HUMAN chromosome 10 open reading frame 95 25 liver(1) 1 Colorectal(252;0.207) Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213) TTGTCTCCTTCAGCCTTGGGG 0.632000 8 27 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46656640 46656640 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:46656640G>A ENST00000253255.5 - 1 2579 c.2580C>T c.(2578-2580)aaC>aaT p.N860N NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 860 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGACATACATGTTGAAATTGG 0.378000 13 35 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140772943 140772943 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:140772943G>C ENST00000398604.2 + 1 563 c.563G>C c.(562-564)gGa>gCa p.G188A PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGACAATGGAGCCATAAAC 0.632000 31 49 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128370125 128370125 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:128370125C>A ENST00000389524.4 + 25 3320 c.3267C>A c.(3265-3267)aaC>aaA p.N1089K MYO7B_ENST00000409816.2_Missense_Mutation_p.N1089K|MYO7B_ENST00000428314.1_Missense_Mutation_p.N1089K Q6PIF6 MYO7B_HUMAN myosin VIIB 1089 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CCATGTCCAACCTGGAGAAGG 0.612000 3 2 0.150653 0.150966 1 1 0 GRTP1 79774 broad.mit.edu 37 13 113979932 113979932 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:113979932G>A ENST00000375430.4 - 7 1011 c.965C>T c.(964-966)cCg>cTg p.P322L GRTP1_ENST00000326039.3_Missense_Mutation_p.P244L|GRTP1_ENST00000375431.4_Intron Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 0 intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) CAGGTGAGGCGGGGCCCCCTG 0.627000 17 13 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155823384 155823384 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:155823384G>A ENST00000437809.1 - 2 310 c.188C>T c.(187-189)tCt>tTt p.S63F GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.S63F|GON4L_ENST00000368331.1_Missense_Mutation_p.S63F|GON4L_ENST00000361040.5_Missense_Mutation_p.S63F NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 63 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) ATCCTGCAAAGACTGTACTTC 0.468000 56 158 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72018299 72018299 + Splice_Site SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:72018299C>A ENST00000294053.3 - 10 1330 c.e10-1 CLPB_ENST00000538039.1_Splice_Site|CLPB_ENST00000538021.1_Splice_Site|CLPB_ENST00000437826.2_Splice_Site|CLPB_ENST00000543042.1_Splice_Site|CLPB_ENST00000340729.5_Splice_Site NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TCTGTTTTTCCTAGTAAGAAA 0.438000 11 39 0.00010058 0.000103142 1 1 0 ATG12 9140 broad.mit.edu 37 5 115177286 115177286 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:115177286G>A ENST00000274459.4 - 1 262 c.105C>T c.(103-105)ctC>ctT p.L35L AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000509910.1_5'UTR NM_004707.3 NP_004698.3 O94817 ATG12_HUMAN autophagy related 12 0 autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) AGTAGCGACTGAGCGCGTGCA 0.592000 37 102 0 0 1 0 0 MAVS 57506 broad.mit.edu 37 20 3835297 3835297 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:3835297A>G ENST00000428216.2 + 2 154 c.26A>G c.(25-27)tAt>tGt p.Y9C MAVS_ENST00000416600.2_5'UTR|MAVS_ENST00000358134.6_Missense_Mutation_p.Y9C NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 9 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 GACAAGACCTATAAGTATATC 0.498000 37 62 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43307536 43307536 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:43307536G>C ENST00000361428.2 - 10 4277 c.4200C>G c.(4198-4200)ctC>ctG p.L1400L ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1400 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTGGAGGTAAGAGGAGATCAG 0.468000 18 36 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 83949351 83949351 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:83949351T>C ENST00000369705.3 - 8 935 c.819A>G c.(817-819)acA>acG p.T273T ME1_ENST00000541327.1_Silent_p.T107T|ME1_ENST00000543031.1_Silent_p.T198T NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 273 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) CAACAGATGCTGTTCCTGAAA 0.373000 3 33 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28916292 28916292 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:28916292G>C ENST00000358201.4 - 13 2270 c.1682C>G c.(1681-1683)aCg>aGg p.T561R RABEP2_ENST00000544477.1_Missense_Mutation_p.T490R|RABEP2_ENST00000357573.6_Missense_Mutation_p.T525R NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 561 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTGACGTCCGTGAGTGGCGC 0.642000 8 82 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3102852 3102852 + Silent SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:3102852G>T ENST00000378398.3 + 2 283 c.201G>T c.(199-201)ccG>ccT p.P67P PRDM16_ENST00000378391.2_Silent_p.P67P|PRDM16_ENST00000442529.2_Silent_p.P67P|PRDM16_ENST00000511072.1_Silent_p.P67P|PRDM16_ENST00000514189.1_Silent_p.P67P|PRDM16_ENST00000441472.2_Silent_p.P67P|PRDM16_ENST00000270722.5_Silent_p.P67P Q9HAZ2 PRD16_HUMAN PR domain containing 16 67 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGGGCTCGCCGTACGAGGCCC 0.672000 T EVI1 """MDS, AML""" 18 44 1.56452e-12 1.6663e-12 1 1 0 NHLRC1 378884 broad.mit.edu 37 6 18122648 18122648 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:18122648G>A ENST00000340650.3 - 1 203 c.190C>T c.(190-192)Ctg>Ttg p.L64L NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 64 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) TCGAGGGCCAGAGTGCGCGGG 0.711000 4 21 0 0 1 0 0 GSS 2937 broad.mit.edu 37 20 33533815 33533815 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:33533815G>A ENST00000216951.2 - 3 314 c.216C>T c.(214-216)ttC>ttT p.F72F GSS_ENST00000451957.2_Silent_p.F72F|GSS_ENST00000541098.1_5'UTR NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 72 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) CTAGCAGGTTGAAGTCCATCT 0.577000 25 71 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36099443 36099443 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:36099443C>T ENST00000225893.4 - 2 893 c.532G>A c.(532-534)Gag>Aag p.E178K HNF1B_ENST00000561193.1_Missense_Mutation_p.E178K|HNF1B_ENST00000560016.1_Missense_Mutation_p.E178K|HNF1B_ENST00000427275.2_Missense_Mutation_p.E178K NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 178 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) CGGAGGATCTCTCGTTGCTTT 0.552000 16 67 0 0 1 0 0 SESN1 27244 broad.mit.edu 37 6 109415196 109415196 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:109415196G>A ENST00000436639.2 - 1 826 c.81C>T c.(79-81)aaC>aaT p.N27N NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 83 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) TTTGCCTAATGTTTTCCAATG 0.448000 28 82 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118376222 118376222 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:118376222C>T ENST00000534358.1 + 27 9638 c.9615C>T c.(9613-9615)agC>agT p.S3205S KMT2A_ENST00000389506.5_Silent_p.S3202S|KMT2A_ENST00000354520.4_Silent_p.S3164S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.S3202R(1) CAGAATCCAGCCAGAGGACAG 0.488000 25 63 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29293647 29293647 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:29293647C>T ENST00000331664.5 - 1 3480 c.3481G>A c.(3481-3483)Gaa>Aaa p.E1161K NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1161 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TTCCAGCATTCTGCTGGGTTC 0.622000 16 48 0 0 1 0 0 MEIS1 4211 broad.mit.edu 37 2 66665039 66665039 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:66665039C>T ENST00000488550.1 + 2 482 c.183C>T c.(181-183)ccC>ccT p.P61P MEIS1_ENST00000444274.2_Silent_p.P29P|MEIS1_ENST00000272369.9_Silent_p.P61P|MEIS1_ENST00000398506.2_Silent_p.P59P|MEIS1_ENST00000560281.2_Silent_p.P61P|MEIS1_ENST00000407092.2_Silent_p.P61P O00470 MEIS1_HUMAN Meis homeobox 1 61 sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 CCATGGCCCCCAGCATGGGCT 0.547000 6 14 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161599786 161599786 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:161599786C>G ENST00000294800.3 - 3 374 c.101G>C c.(100-102)tGg>tCg p.W34S FCGR3B_ENST00000531221.1_Missense_Mutation_p.W70S|FCGR3B_ENST00000367964.2_Missense_Mutation_p.W34S|FCGR2B_ENST00000428605.2_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 34 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CACGCTGTACCATTGAGGCTC 0.532000 17 901 0 0 1 0 0 ZDHHC16 84287 broad.mit.edu 37 10 99215400 99215400 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:99215400C>T ENST00000370846.4 + 6 760 c.598C>T c.(598-600)Cgc>Tgc p.R200C ZDHHC16_ENST00000393760.1_Intron|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000352634.4_Intron|ZDHHC16_ENST00000495735.1_Intron|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370842.2_Intron|ZDHHC16_ENST00000370854.3_Intron Q969W1 ZDH16_HUMAN zinc finger, DHHC-type containing 16 0 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) CACCAGTCTTCGCCCCTCTTT 0.488000 47 109 0 0 1 0 0 TAAR8 83551 broad.mit.edu 37 6 132874348 132874348 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:132874348G>A ENST00000275200.1 + 1 517 c.517G>A c.(517-519)Gat>Aat p.D173N NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 173 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) AGGTGTCAATGATGATGGGCT 0.468000 51 203 0 0 1 0 0 NCAPG2 54892 broad.mit.edu 37 7 158424360 158424360 + Nonstop_Mutation SNP A A C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:158424360A>C ENST00000409423.1 - 29 3602 c.3430T>G c.(3430-3432)Taa>Gaa p.*1144E NCAPG2_ENST00000541468.1_Nonstop_Mutation_p.*598E|NCAPG2_ENST00000275830.10_Nonstop_Mutation_p.*889E|NCAPG2_ENST00000356309.3_Nonstop_Mutation_p.*1144E NM_001281932.1 NP_001268861.1 Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 0 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TGGCTTGGTTATGAATTCAAA 0.299000 17 47 0 0 1 0 0 FOXN2 3344 broad.mit.edu 37 2 48602438 48602438 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:48602438G>A ENST00000340553.3 + 7 1413 c.1152G>A c.(1150-1152)aaG>aaA p.K384K NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 384 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) CAGGCAAAAAGATGCGAAAAC 0.438000 14 43 0 0 1 0 0 GAS6 2621 broad.mit.edu 37 13 114523901 114523901 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:114523901G>A ENST00000357389.3 - 15 2254 c.2102C>T c.(2101-2103)gCg>gTg p.A701V GAS6_ENST00000327773.6_Missense_Mutation_p.A658V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.A359V|GAS6_ENST00000355761.4_Missense_Mutation_p.A604V|GAS6_ENST00000450766.1_Missense_Mutation_p.A385V Q14393 GAS6_HUMAN growth arrest-specific 6 701 Laminin G-like 2. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CTTGTACGCCGCCTCGTCCAG 0.687000 16 28 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56114897 56114897 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:56114897A>G ENST00000288221.6 - 7 1844 c.1589T>C c.(1588-1590)aTg>aCg p.M530T NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 530 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CATATCTTTCATGTCACGAAT 0.388000 8 24 0 0 1 0 0 PABPC1 26986 broad.mit.edu 37 8 101721811 101721811 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:101721811C>T ENST00000318607.5 - 8 2249 c.1121G>A c.(1120-1122)cGc>cAc p.R374H PABPC1_ENST00000519004.1_Missense_Mutation_p.R329H|PABPC1_ENST00000522387.1_Missense_Mutation_p.R342H|PABPC1_ENST00000519596.1_5'UTR NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 374 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GTGAGCCTGGCGCTCTTCTTT 0.498000 28 76 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 169993564 169993564 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:169993564C>T ENST00000367765.1 - 9 2396 c.895G>A c.(895-897)Gat>Aat p.D299N KIFAP3_ENST00000367767.1_Missense_Mutation_p.D295N|KIFAP3_ENST00000540905.1_Missense_Mutation_p.D41N|KIFAP3_ENST00000538366.1_Missense_Mutation_p.D261N|KIFAP3_ENST00000361580.2_Missense_Mutation_p.D339N|RP11-332H17.1_ENST00000440321.1_RNA NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 339 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding p.D339N(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTTACCATATCATTTTTATTC 0.313000 12 35 0 0 1 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839619 27839619 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:27839619G>A ENST00000356790.2 + 3 441 c.196G>A c.(196-198)Gaa>Aaa p.E66K NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 66 NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 TGGACTTCGGGAAGCCCAATC 0.502000 15 17 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95043169 95043169 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:95043169G>C ENST00000375643.3 - 7 870 c.604C>G c.(604-606)Caa>Gaa p.Q202E IARS_ENST00000447699.2_Missense_Mutation_p.Q92E|IARS_ENST00000443024.2_Missense_Mutation_p.Q202E|IARS_ENST00000375629.3_5'UTR NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 202 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) GAAGGATCTTGAACATCCTGA 0.353000 4 24 0 0 1 0 0 MSI2 124540 broad.mit.edu 37 17 55729481 55729481 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:55729481G>A ENST00000284073.2 + 11 958 c.749G>A c.(748-750)gGa>gAa p.G250E MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000416426.2_Missense_Mutation_p.G228E|MSI2_ENST00000442934.2_Missense_Mutation_p.G189E NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 250 cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) GCGGCTTATGGACCAGTGGCA 0.632000 T HOXA9 CML 29 45 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49166566 49166566 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:49166566G>A ENST00000418109.1 - 14 1782 c.1618C>T c.(1618-1620)Caa>Taa p.Q540* LAMB2_ENST00000305544.4_Nonsense_Mutation_p.Q540* NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 540 Laminin EGF-like 5; truncated. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGTGGCATTGACCTGTGCCC 0.577000 17 59 0 0 1 0 0 IFI27L1 122509 broad.mit.edu 37 14 94563266 94563266 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:94563266G>A ENST00000553664.1 + 3 175 c.50G>A c.(49-51)cGa>cAa p.R17Q IFI27L1_ENST00000554544.1_5'UTR|IFI27L1_ENST00000556381.1_5'UTR|IFI27L1_ENST00000554562.1_5'UTR|IFI27L1_ENST00000557218.1_5'UTR|IFI27L1_ENST00000393115.3_5'UTR|IFI27L1_ENST00000553350.1_3'UTR|IFI27L1_ENST00000557066.1_5'UTR|IFI27L1_ENST00000555523.1_5'UTR Q96BM0 I27L1_HUMAN interferon, alpha-inducible protein 27-like 1 0 integral to membrane lung(2) 2 GAGGCTCACCGAGGCGAAGGG 0.502000 10 4 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144917854 144917854 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:144917854G>A ENST00000529945.1 - 7 2360 c.1921C>T c.(1921-1923)Cgc>Tgc p.R641C PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R615C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R615C|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R478C|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R265C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R478C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R478C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R544C|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R641C|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R478C Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 478 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) ATTCGCTGGCGAAGTTTCTCA 0.378000 T PDGFRB MPD 43 576 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72455648 72455648 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:72455648C>T ENST00000309731.7 - 10 928 c.915G>A c.(913-915)ctG>ctA p.L305L GRAMD2_ENST00000564184.1_5'UTR NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 305 integral to membrane p.L305L(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 CCCAGAGCCTCAGCTCCCCAG 0.562000 16 25 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48681429 48681429 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:48681429G>T ENST00000334136.5 + 25 2798 c.2620G>T c.(2620-2622)Gtt>Ttt p.V874F HDAC6_ENST00000376619.2_Missense_Mutation_p.V874F|HDAC6_ENST00000444343.2_Missense_Mutation_p.V888F Q9UBN7 HDAC6_HUMAN histone deacetylase 6 874 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) AGAAAAGAAGGTTCTGGAAGC 0.542000 9 15 1.12685e-05 1.16546e-05 1 1 0 GDPD3 79153 broad.mit.edu 37 16 30123629 30123629 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:30123629C>T ENST00000406256.3 - 5 858 c.481G>A c.(481-483)Gag>Aag p.E161K NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 161 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 AGCACCACCTCACGGATGAGC 0.612000 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 83 0 0 1 0 0 ERCC6L 54821 broad.mit.edu 37 X 71428441 71428441 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:71428441C>G ENST00000334463.3 - 2 311 c.176G>C c.(175-177)aGa>aCa p.R59T ERCC6L_ENST00000373657.1_5'UTR|PIN4_ENST00000423432.2_Intron NM_017669.2 NP_060139.2 Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 59 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TTTTTGGATTCTGCTCAGCAC 0.408000 13 51 0 0 1 0 0 MIR21 406991 broad.mit.edu 37 17 57918683 57918683 + RNA SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:57918683G>C ENST00000362134.1 + 0 57 NR_029493.1 AACACCAGTCGATGGGCTGTC 0.423000 76 80 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36724064 36724064 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:36724064C>T ENST00000244751.2 - 13 1491 c.867G>A c.(865-867)ccG>ccA p.P289P CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_5'UTR NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 289 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TTTTCTTTTTCGGGTTTACCA 0.522000 15 29 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46388283 46388283 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:46388283G>A ENST00000302165.3 - 1 1093 c.750C>T c.(748-750)caC>caT p.H250H NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 250 H -> R (in Ref. 2; BAD97342). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CCACCAGCCCGTGATCCTTCT 0.632000 18 66 0 0 1 0 0 RRM2B 50484 broad.mit.edu 37 8 103226331 103226331 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:103226331G>A ENST00000251810.3 - 7 983 c.740C>T c.(739-741)tCa>tTa p.S247L RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.S195L|RRM2B_ENST00000519317.1_Missense_Mutation_p.S35L NM_001172478.1|NM_015713.4 NP_001165949.1|NP_056528.2 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 247 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 9 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) CCTTTCTTCTGAAGGCTTATT 0.383000 Modulation of nucleotide pools 9 19 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139192916 139192916 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:139192916G>A ENST00000274710.3 + 3 599 c.394G>A c.(394-396)Gat>Aat p.D132N NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 132 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGGAGCCAGATGTGCGGGA 0.602000 35 60 0 0 1 0 0 HACL1 26061 broad.mit.edu 37 3 15604909 15604909 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:15604909G>A ENST00000321169.5 - 16 2027 c.1660C>T c.(1660-1662)Ctt>Ttt p.L554F HACL1_ENST00000435217.2_Missense_Mutation_p.L313F|HACL1_ENST00000451445.2_Missense_Mutation_p.L472F|HACL1_ENST00000457447.2_Missense_Mutation_p.L494F|HACL1_ENST00000456194.2_Missense_Mutation_p.L527F NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 554 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 ATGTTGATAAGAGAAGGTTTA 0.458000 8 40 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74750140 74750140 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:74750140A>G ENST00000588460.1 + 8 2695 c.653A>G c.(652-654)aAc>aGc p.N218S MFSD11_ENST00000586622.1_Missense_Mutation_p.N218S|MFSD11_ENST00000590514.1_Missense_Mutation_p.N218S|MFSD11_ENST00000355954.3_Missense_Mutation_p.N166S|MFSD11_ENST00000336509.4_Missense_Mutation_p.N218S|MFSD11_ENST00000593181.1_Missense_Mutation_p.N166S NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 218 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 TCTGCCCAGAACAATCTGACA 0.328000 12 22 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180904388 180904388 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:180904388C>T ENST00000367588.4 + 5 1398 c.1343C>T c.(1342-1344)tCg>tTg p.S448L KIAA1614_ENST00000367587.1_Missense_Mutation_p.S69L NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 448 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CCCTCGCCGTCGCACGTGCGC 0.697000 4 5 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145311916 145311916 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:145311916A>G ENST00000369338.1 + 10 1355 c.1165A>G c.(1165-1167)Ata>Gta p.I389V RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 662 p.I389V(3)|p.Y388>?(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TGCCTTTTACATATTGGAGCA 0.458000 6 616 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275125 71275125 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:71275125G>A ENST00000399575.2 + 3 254 c.80G>A c.(79-81)aGa>aAa p.R27K PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 27 regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TTCTCCAGAAGACCATATCTA 0.423000 23 48 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23894580 23894580 + Silent SNP G G A rs2069544 byFrequency TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:23894580G>A ENST00000355349.3 - 21 2496 c.2334C>T c.(2332-2334)gaC>gaT p.D778D NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 778 Myosin head-like. D -> E (in CMH1).|D -> G (in CMH1).|D -> V (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCAGCCTCTCGTCCCTCATTT 0.587000 13 42 0 0 1 0 0 PRRX1 5396 broad.mit.edu 37 1 170699465 170699465 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:170699465G>A ENST00000367760.3 + 4 1732 c.647G>A c.(646-648)gGa>gAa p.G216E PRRX1_ENST00000239461.6_Intron|PRRX1_ENST00000476867.2_Intron NM_006902.3 NP_008833.1 P54821 PRRX1_HUMAN paired related homeobox 1 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCATAACGGATTCTAACGG 0.453000 31 115 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67629410 67629410 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:67629410T>C ENST00000335894.4 + 5 551 c.485T>C c.(484-486)gTc>gCc p.V162A IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR NM_001031715.2 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H 162 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CCTATACCAGTCTTACAAGCA 0.423000 16 48 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73839263 73839263 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:73839263C>T ENST00000207549.4 - 3 617 c.238G>A c.(238-240)Gag>Aag p.E80K UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.E80K NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 80 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CGCAGCAGCTCAGAGGCCTCC 0.672000 Familial Hemophagocytic Lymphohistiocytosis 18 43 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56377292 56377292 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr18:56377292G>C ENST00000348428.3 + 6 1171 c.913G>C c.(913-915)Gaa>Caa p.E305Q RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.E305Q NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 305 Ig-like C2-type 2. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 CAAGAAGGTAGAAATCATCAT 0.343000 T BIRC3 MALT 17 45 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42865107 42865107 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:42865107G>A ENST00000334370.4 + 31 6103 c.5468G>A c.(5467-5469)gGg>gAg p.G1823E MEGF8_ENST00000251268.6_Missense_Mutation_p.G1890E NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1890 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) AACCAGTCTGGGGCCTGCACC 0.672000 33 30 0 0 1 0 0 C5orf55 116349 broad.mit.edu 37 5 442648 442648 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:442648C>T ENST00000408966.2 - 1 610 c.290G>A c.(289-291)aGa>aAa p.R97K NM_138464.2 NP_612473.1 Q8N2X6 CE055_HUMAN chromosome 5 open reading frame 55 97 extracellular region large_intestine(1)|lung(2) 3 TGCTGGGCCTCTGAGGGGCCC 0.647000 20 1263 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18864341 18864341 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:18864341G>C ENST00000338797.6 + 7 643 c.618G>C c.(616-618)gaG>gaC p.E206D CRTC1_ENST00000321949.8_Missense_Mutation_p.E190D|CRTC1_ENST00000601916.1_Missense_Mutation_p.E115D|CRTC1_ENST00000594658.1_Missense_Mutation_p.E149D NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 190 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 GAATGGAAGAGACCACATCAG 0.463000 65 213 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26482183 26482183 + Silent SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:26482183C>A ENST00000265944.5 + 32 4654 c.4488C>A c.(4486-4488)ccC>ccA p.P1496P MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1496 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAAGACGACCCCGGAAACCCA 0.378000 18 27 0.000175454 0.000179734 1 1 0 TMEM131 23505 broad.mit.edu 37 2 98409038 98409038 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:98409038C>T ENST00000186436.5 - 31 4183 c.3955G>A c.(3955-3957)Gaa>Aaa p.E1319K NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1319 Pro-rich. integral to membrane p.E1206Q(1)|p.E1206*(1)|p.E1319Q(1) 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 GACAGCCTTTCAGGCTGCGGC 0.677000 8 27 0 0 1 0 0 MAU2 23383 broad.mit.edu 37 19 19448017 19448017 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:19448017G>A ENST00000262815.8 + 4 438 c.399G>A c.(397-399)gcG>gcA p.A133A MAU2_ENST00000586189.3_3'UTR|MAU2_ENST00000392313.6_Silent_p.A133A Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 133 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 TGCGGAAGGCGATCCAGATCT 0.552000 14 32 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128467099 128467099 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:128467099C>T ENST00000322313.4 - 20 3688 c.3530G>A c.(3529-3531)cGg>cAg p.R1177Q NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1177 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) ATCTGGCTTCCGCCCTCCTTC 0.517000 34 101 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227661432 227661432 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:227661432T>C ENST00000305123.5 - 1 3043 c.2023A>G c.(2023-2025)Att>Gtt p.I675V NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CCACCTCCAATGTCAGGAGAG 0.617000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 26 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47684750 47684750 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:47684750G>A ENST00000455779.1 + 21 2053 c.1868G>A c.(1867-1869)cGg>cAg p.R623Q PHKB_ENST00000323584.5_Missense_Mutation_p.R630Q|PHKB_ENST00000299167.8_Missense_Mutation_p.R630Q|PHKB_ENST00000566044.1_Missense_Mutation_p.R623Q Q93100 KPBB_HUMAN phosphorylase kinase, beta 630 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) AGAGGTAGCCGGTTCAACCCC 0.333000 36 22 0 0 1 0 0 KLHL42 57542 broad.mit.edu 37 12 27933917 27933917 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:27933917C>T ENST00000381271.2 + 1 965 c.654C>T c.(652-654)tcC>tcT p.S218S RP11-860B13.1_ENST00000545904.1_RNA NM_020782.1 NP_065833.1 kelch-like family member 42 AGCCCCCGTCCATGCTCAGGT 0.662000 9 19 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102667496 102667496 + Missense_Mutation SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:102667496T>A ENST00000315274.6 - 4 591 c.524A>T c.(523-525)gAt>gTt p.D175V WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 175 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) TCCAGGTCCATCAAAAGGAGA 0.428000 12 40 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9968519 9968519 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:9968519A>G ENST00000264833.4 - 3 417 c.232T>C c.(232-234)Tcc>Ccc p.S78P OLFM2_ENST00000590841.1_5'UTR NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 78 extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 ACCTCCATGGACTGGGAGACG 0.602000 10 27 0 0 1 0 0 GNA11 2767 broad.mit.edu 37 19 3121021 3121021 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:3121021C>T ENST00000078429.4 + 7 1166 c.924C>T c.(922-924)ttC>ttT p.F308F GNA11_ENST00000586180.1_3'UTR NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 308 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) CGCGGGAGTTCATCCTGAAGA 0.657000 Mis uveal melanoma 13 27 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248636950 248636950 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:248636950C>T ENST00000359594.2 + 1 324 c.299C>T c.(298-300)tCa>tTa p.S100L NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATTTCCCCGTCAGGCTGTGGG 0.547000 11 93 0 0 1 0 0 CCDC85A 114800 broad.mit.edu 37 2 56419820 56419820 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:56419820A>G ENST00000407595.2 + 2 987 c.485A>G c.(484-486)aAc>aGc p.N162S RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 162 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTGAAGGAGAACATGGAGCTC 0.587000 43 66 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603689 111603689 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:111603689A>G ENST00000431670.2 + 2 1176 c.765A>G c.(763-765)tcA>tcG p.S255S PHLDB2_ENST00000393923.3_Silent_p.S282S|PHLDB2_ENST00000477695.1_Silent_p.S255S|PHLDB2_ENST00000478922.1_Silent_p.S255S|PHLDB2_ENST00000393925.3_Silent_p.S255S|PHLDB2_ENST00000412622.1_Silent_p.S255S|PHLDB2_ENST00000481953.1_Silent_p.S255S NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 255 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 ACAGCCGATCACTTCCCAGGT 0.483000 48 52 0 0 1 0 0 C2orf57 165100 broad.mit.edu 37 2 232458278 232458278 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:232458278G>A ENST00000313965.2 + 1 704 c.616G>A c.(616-618)Gaa>Aaa p.E206K NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 206 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) CCCACACCCTGAAGCTGAAGC 0.577000 7 70 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148951224 148951224 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:148951224C>T ENST00000335870.2 + 5 1334 c.1206C>T c.(1204-1206)gtC>gtT p.V402V NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GCCAGCATGTCCAAGAGAGGT 0.597000 6 22 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17435910 17435910 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:17435910G>C ENST00000159087.4 - 17 3105 c.2947C>G c.(2947-2949)Cca>Gca p.P983A NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 983 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 CCCTGCAGTGGGATGATCTGC 0.672000 35 130 0 0 1 0 0 NOC3L 64318 broad.mit.edu 37 10 96117057 96117057 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:96117057C>T ENST00000371361.3 - 4 482 c.382G>A c.(382-384)Gaa>Aaa p.E128K NOC3L_ENST00000371350.1_Missense_Mutation_p.E128K|NOC3L_ENST00000463649.1_5'UTR NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 128 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) ATAATGCGTTCATGCTTCCGT 0.343000 13 32 0 0 1 0 0 TUBB4B 10383 broad.mit.edu 37 9 140136952 140136952 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:140136952G>C ENST00000340384.4 + 4 430 c.282G>C c.(280-282)caG>caC p.Q94H NM_006088.5 NP_006079.1 P68371 TBB2C_HUMAN tubulin, beta 4B class IVb 94 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding TCACAGGTCAGAGTGGTGCTG 0.557000 17 48 0 0 1 0 0 NEK3 4752 broad.mit.edu 37 13 52718874 52718874 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:52718874G>C ENST00000400357.2 - 8 2049 c.756C>G c.(754-756)ctC>ctG p.L252L NEK3_ENST00000339406.3_Silent_p.L252L|NEK3_ENST00000378101.2_Silent_p.L252L|NEK3_ENST00000452082.2_Silent_p.L273L P51956 NEK3_HUMAN NIMA-related kinase 3 252 Interaction with VAV2.|Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) TGCCTCGAGAGAGAAGCGTTG 0.478000 5 18 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52818337 52818337 + Silent SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:52818337C>G ENST00000273283.2 + 11 1275 c.1251C>G c.(1249-1251)ctC>ctG p.L417L ITIH1_ENST00000540715.1_Silent_p.L275L|ITIH1_ENST00000537050.1_Silent_p.L129L|ITIH1_ENST00000542827.1_Silent_p.L417L NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 417 Hyaluronan-binding.|VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity p.L417L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CCCAAATCCTCAAGAACGTCC 0.602000 6 20 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17752296 17752296 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:17752296C>T ENST00000428389.2 - 22 2805 c.2806G>A c.(2806-2808)Gat>Aat p.D936N UNC13A_ENST00000552293.1_Missense_Mutation_p.D848N|UNC13A_ENST00000519716.2_Missense_Mutation_p.D848N|UNC13A_ENST00000252773.7_Missense_Mutation_p.D848N|UNC13A_ENST00000551649.1_Missense_Mutation_p.D848N|UNC13A_ENST00000550896.1_Missense_Mutation_p.D846N Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 848 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.D848N(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TTCCAGGCATCGTCACCCTTG 0.547000 19 67 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20996984 20996984 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:20996984G>T ENST00000261383.3 - 48 7079 c.7080C>A c.(7078-7080)agC>agA p.S2360R DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2360 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CAAAGAAGAGGCTTCGAATGT 0.453000 69 110 1.17253e-29 1.27409e-29 1 1 0 PNRC1 10957 broad.mit.edu 37 6 89790641 89790641 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:89790641G>A ENST00000336032.3 + 1 145 c.28G>A c.(28-30)Gag>Aag p.E10K PNRC1_ENST00000369472.1_5'UTR NM_006813.2 NP_006804.1 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) CCCGCAGCGGGAGCCGCTCGT 0.617000 Multiple Myeloma(7;0.094) 6 44 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81536974 81536974 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:81536974C>T ENST00000548058.1 + 5 1779 c.869C>T c.(868-870)tCa>tTa p.S290L ACSS3_ENST00000261206.3_Missense_Mutation_p.S289L Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 290 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CCTGTTCTTTCAGAACACCCA 0.453000 30 34 0 0 1 0 0 ARPP19 10776 broad.mit.edu 37 15 52844256 52844256 + Missense_Mutation SNP T T G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:52844256T>G ENST00000566423.1 - 4 347 c.214A>C c.(214-216)Atg>Ctg p.M72L ARPP19_ENST00000564163.1_Missense_Mutation_p.M91L|ARPP19_ENST00000561650.1_Missense_Mutation_p.M56L|ARPP19_ENST00000569723.1_Missense_Mutation_p.M31L|ARPP19_ENST00000563566.1_Missense_Mutation_p.M56L|ARPP19_ENST00000569281.2_Missense_Mutation_p.M72L|ARPP19_ENST00000567669.1_Missense_Mutation_p.M72L|ARPP19_ENST00000249822.4_Missense_Mutation_p.M72L|ARPP19_ENST00000561971.1_Missense_Mutation_p.M91L|ARPP19_ENST00000568196.1_Missense_Mutation_p.M56L|ARPP19_ENST00000563277.1_Missense_Mutation_p.M56L|ARPP19_ENST00000565288.1_5'UTR P56211 ARP19_HUMAN cAMP-regulated phosphoprotein, 19kDa 72 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import cytoplasm potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 TTGTTCTTCATTTTTGCTTTA 0.408000 27 46 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16893433 16893433 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:16893433T>C ENST00000377833.4 - 60 9529 c.9464A>G c.(9463-9465)cAa>cGa p.Q3155R NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3155 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCACATCCTTGCTGAGGCCC 0.398000 11 54 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114133921 114133921 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:114133921C>A ENST00000259335.4 - 44 5250 c.5251G>T c.(5251-5253)Gga>Tga p.G1751* KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.G1573*|KIAA0368_ENST00000374378.3_Nonsense_Mutation_p.G37* 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 CACGTTCTTCCAGCCAGGCCT 0.448000 39 173 8.69298e-16 9.33046e-16 1 1 0 PHF14 9678 broad.mit.edu 37 7 11053504 11053504 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:11053504T>C ENST00000403050.3 + 5 1628 c.1176T>C c.(1174-1176)gaT>gaC p.D392D PHF14_ENST00000445996.2_Silent_p.D107D NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 392 zinc ion binding p.D392E(1) NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) CTAATCAGGATGGAATTTTCA 0.398000 5 17 0 0 1 0 0 FGGY 55277 broad.mit.edu 37 1 60139745 60139745 + Silent SNP C C G rs114601020 by1000genomes TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:60139745C>G ENST00000371218.4 + 15 1708 c.1524C>G c.(1522-1524)tcC>tcG p.S508S FGGY_ENST00000371210.1_Silent_p.S185S|FGGY_ENST00000303721.7_Silent_p.S484S|FGGY_ENST00000371212.1_Silent_p.S396S NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 484 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) AGGTGGAGTCCGTTCTTGTGG 0.612000 3 4 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88477726 88477726 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:88477726T>C ENST00000552810.1 - 36 5053 c.4710A>G c.(4708-4710)caA>caG p.Q1570Q CEP290_ENST00000547691.2_Silent_p.Q630Q|CEP290_ENST00000309041.7_Silent_p.Q1572Q|CEP290_ENST00000397838.3_Silent_p.Q630Q NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1570 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CAATTTCTCTTTGCTCCTGTT 0.294000 4 6 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255422 9255422 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr18:9255422A>G ENST00000262126.4 + 9 2397 c.2157A>G c.(2155-2157)acA>acG p.T719T ANKRD12_ENST00000383440.2_Silent_p.T696T|ANKRD12_ENST00000400020.3_Silent_p.T696T NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AATCCTTAACATTAGAAAAAA 0.294000 5 10 0 0 1 0 0 ACER2 340485 broad.mit.edu 37 9 19450618 19450618 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:19450618C>T ENST00000340967.2 + 6 838 c.812C>T c.(811-813)tCa>tTa p.S271L NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 271 ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 AAGAAATCATCAGTCAAGATC 0.522000 26 158 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984284 85984284 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:85984284C>G ENST00000372113.4 - 2 702 c.697G>C c.(697-699)Ggc>Cgc p.G233R LRIT2_ENST00000538192.1_Missense_Mutation_p.G233R NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 233 LRRCT. integral to membrane p.G233C(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GACAGAGGGCCCTGACATATC 0.532000 24 44 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68118509 68118509 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:68118509G>A ENST00000380035.2 + 2 401 c.343G>A c.(343-345)Gag>Aag p.E115K SKOR1_ENST00000554240.1_Missense_Mutation_p.E76K|SKOR1_ENST00000341418.5_Missense_Mutation_p.E301K|SKOR1_ENST00000389002.1_Missense_Mutation_p.E106K|SKOR1_ENST00000554054.1_Missense_Mutation_p.E87K P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 115 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 CAGCTATAATGAGATCCACAA 0.632000 11 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179438608 179438608 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:179438608G>C ENST00000589042.1 - 326 72475 c.72251C>G c.(72250-72252)tCt>tGt p.S24084C TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15019C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15144C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15211C|TTN_ENST00000591111.1_Missense_Mutation_p.S22443C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21516C|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22443 Fibronectin type-III 75. 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) CAGATTAGTAGAGAAATCTGC 0.423000 23 21 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126736395 126736395 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:126736395C>A ENST00000393409.2 + 17 3404 c.3404C>A c.(3403-3405)tCc>tAc p.S1135Y PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1112Y NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1135 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) AACGTGCGCTCCCTGCTTGTG 0.657000 51 180 1.38658e-30 1.50837e-30 1 1 0 TCHHL1 126637 broad.mit.edu 37 1 152058966 152058966 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:152058966C>T ENST00000368806.1 - 3 1256 c.1192G>A c.(1192-1194)Gag>Aag p.E398K NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 398 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CCATGGGCCTCAGGACCTCTC 0.473000 33 471 0 0 1 0 0 KCTD14 65987 broad.mit.edu 37 11 77734251 77734251 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:77734251C>T ENST00000353172.5 - 1 89 c.45G>A c.(43-45)acG>acA p.T15T KCTD14_ENST00000533144.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA|NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 15 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) GGGTCTGGCTCGTCATCCTGC 0.706000 9 20 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154233401 154233401 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:154233401C>T ENST00000428931.1 + 23 2779 c.2612C>T c.(2611-2613)tCc>tTc p.S871F UBAP2L_ENST00000271877.7_Missense_Mutation_p.S882F|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S871F|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S871F NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 871 binding of sperm to zona pellucida protein binding p.S871Y(2)|p.S367Y(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGGGATGCCTCCTCCCCAGCC 0.567000 17 82 0 0 1 0 0 LEO1 123169 broad.mit.edu 37 15 52258315 52258315 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:52258315C>A ENST00000299601.5 - 2 505 c.445G>T c.(445-447)Gat>Tat p.D149Y LEO1_ENST00000315141.5_Missense_Mutation_p.D149Y NM_138792.2 NP_620147.1 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 149 Asp-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 14 all cancers(107;0.00264) TCACTTTTATCTTCTCTGCCC 0.418000 45 134 3.61183e-13 3.85528e-13 1 1 0 KLHL24 54800 broad.mit.edu 37 3 183396981 183396981 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:183396981T>C ENST00000454652.2 + 9 2096 c.1710T>C c.(1708-1710)agT>agC p.S570S KLHL24_ENST00000242810.6_Silent_p.S570S NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CTGCAACAAGTATCATCACAG 0.438000 24 88 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142711429 142711429 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:142711429G>C ENST00000230173.6 + 7 1733 c.1257G>C c.(1255-1257)caG>caC p.Q419H GPR126_ENST00000367609.3_Missense_Mutation_p.Q419H|GPR126_ENST00000367608.2_Missense_Mutation_p.Q391H|GPR126_ENST00000296932.8_Missense_Mutation_p.Q391H NM_020455.5 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 419 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TAGTGATTCAGAACATCCTTC 0.318000 4 38 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237617837 237617837 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:237617837G>A ENST00000366574.2 + 15 1756 c.1439G>A c.(1438-1440)cGa>cAa p.R480Q RYR2_ENST00000542537.1_Missense_Mutation_p.R464Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R478Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 480 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AACAGACTACGAGCCCTGAAG 0.443000 4 21 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123919865 123919865 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:123919865G>A ENST00000373855.1 + 28 4743 c.4483G>A c.(4483-4485)Gat>Aat p.D1495N CNTRL_ENST00000373847.1_Missense_Mutation_p.D943N|CNTRL_ENST00000238341.5_Missense_Mutation_p.D1495N|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.D943N Q7Z7A1 CNTRL_HUMAN centriolin 1495 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 CGTCAAAGCTGATCAGCAGCT 0.393000 17 52 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195690254 195690254 + RNA SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:195690254C>G ENST00000427841.1 - 0 2241 NR_003264.2 CAGCCTCATTCAAAGTTTTGT 0.408000 8 38 0 0 1 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186572087 186572087 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:186572087T>C ENST00000412955.2 + 3 470 c.329T>C c.(328-330)gTa>gCa p.V110A ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.V110A|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.V110A Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 110 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GGTGCCTATGTATACCGCTCA 0.512000 43 71 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15507984 15507984 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:15507984T>C ENST00000397410.5 - 12 1643 c.1513A>G c.(1513-1515)Atg>Gtg p.M505V AKAP8L_ENST00000595465.2_Missense_Mutation_p.M444V 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 TTGTGATCCATGGTCTTCAGA 0.552000 24 122 0 0 1 0 0 HS6ST2 90161 broad.mit.edu 37 X 131762712 131762712 + Missense_Mutation SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:131762712T>A ENST00000370836.2 - 4 1772 c.1357A>T c.(1357-1359)Att>Ttt p.I453F HS6ST2_ENST00000370833.2_Missense_Mutation_p.I347F|HS6ST2_ENST00000406696.3_Missense_Mutation_p.I179F|HS6ST2_ENST00000521489.1_Missense_Mutation_p.I493F NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 453 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) AATGGCGAAATAAAGTTCATG 0.418000 60 14 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200574454 200574454 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:200574454G>T ENST00000367350.4 - 8 2141 c.1703C>A c.(1702-1704)tCc>tAc p.S568Y NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 568 Kinesin-motor. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 ATGAGATCGGGAACTTTTATC 0.398000 8 53 0.0477658 0.0480143 1 1 0 HFE2 148738 broad.mit.edu 37 1 145415418 145415418 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:145415418C>T ENST00000336751.5 + 3 475 c.237C>T c.(235-237)ctC>ctT p.L79L HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 79 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGGCGGCCTCTGTCGAGCCC 0.672000 6 144 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47746268 47746268 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:47746268T>C ENST00000360380.3 - 13 2225 c.1862A>G c.(1861-1863)cAa>cGa p.Q621R STIL_ENST00000371877.3_Missense_Mutation_p.Q621R|STIL_ENST00000396221.2_Missense_Mutation_p.Q621R|STIL_ENST00000337817.5_Missense_Mutation_p.Q621R|STIL_ENST00000243182.6_Missense_Mutation_p.Q621R NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 621 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GTTTGCTCCTTGCCAAGAATT 0.438000 45 94 0 0 1 0 0 NFXL1 152518 broad.mit.edu 37 4 47900853 47900853 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:47900853C>G ENST00000507489.1 - 8 1186 c.1010G>C c.(1009-1011)aGa>aCa p.R337T NFXL1_ENST00000329043.3_Missense_Mutation_p.R337T|NFXL1_ENST00000381538.3_Missense_Mutation_p.R337T NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 337 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TCTACTAACTCTTGGACAAGG 0.353000 11 43 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 51 217 0 0 1 0 0 NSMCE1 197370 broad.mit.edu 37 16 27245536 27245536 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:27245536C>G ENST00000361439.4 - 4 408 c.309G>C c.(307-309)gaG>gaC p.E103D NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) 103 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding endometrium(2)|large_intestine(2)|lung(3) 7 CCAGTTCATTCTCTGCAAAAT 0.438000 13 105 0 0 1 0 0 PACSIN3 29763 broad.mit.edu 37 11 47201882 47201882 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:47201882G>A ENST00000539589.1 - 6 800 c.458C>T c.(457-459)tCc>tTc p.S153F PACSIN3_ENST00000298838.6_Missense_Mutation_p.S153F NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 153 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 GCTTTTCTTGGAAGCCTCAAC 0.617000 OREG0020952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 37 0 0 1 0 0 PON3 5446 broad.mit.edu 37 7 94993301 94993301 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:94993301A>T ENST00000265627.5 - 6 579 c.569T>A c.(568-570)cTg>cAg p.L190Q PON3_ENST00000451904.1_Missense_Mutation_p.L190Q|PON3_ENST00000427422.1_Missense_Mutation_p.L190Q|PON1_ENST00000542556.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) AAAAAATGACAGGAGGGAGTT 0.433000 38 68 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72324257 72324257 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:72324257C>T ENST00000263563.6 + 19 2668 c.2400C>T c.(2398-2400)ttC>ttT p.F800F NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 AGAGGCCCTTCAGCACCTGGA 0.637000 32 57 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 4 61 0 0 1 0 0 QPCT 25797 broad.mit.edu 37 2 37586827 37586827 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:37586827C>T ENST00000338415.3 + 3 530 c.372C>T c.(370-372)atC>atT p.I124I QPCT_ENST00000537448.1_Silent_p.I75I NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 124 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) CAAATATCATCAGCACCCTCA 0.483000 23 90 0 0 1 0 0 HDAC2 3066 broad.mit.edu 37 6 114265514 114265514 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:114265514A>G ENST00000519065.1 - 11 1528 c.1152T>C c.(1150-1152)gcT>gcC p.A384A HDAC2_ENST00000519108.1_Silent_p.A354A|HDAC2_ENST00000398283.2_Silent_p.A478A|HDAC2_ENST00000368632.2_Silent_p.A354A Q92769 HDAC2_HUMAN histone deacetylase 2 384 blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) CTTCTGGAATAGCTTGCATCT 0.358000 27 35 0 0 1 0 0 POU2F2 5452 broad.mit.edu 37 19 42600013 42600013 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:42600013G>A ENST00000389341.5 - 9 750 c.684C>T c.(682-684)ttC>ttT p.F228F POU2F2_ENST00000529067.1_Silent_p.F228F|POU2F2_ENST00000560558.1_Silent_p.F189F|POU2F2_ENST00000529952.1_Silent_p.F244F|POU2F2_ENST00000342301.4_Silent_p.F244F|POU2F2_ENST00000526816.2_Silent_p.F244F|POU2F2_ENST00000560398.1_Silent_p.F250F|POU2F2_ENST00000533720.1_Silent_p.F228F NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 244 POU-specific. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) TGAGGGCCTCGAAGCGGGAAA 0.622000 24 74 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4700228 4700228 + Splice_Site SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:4700228C>T ENST00000262960.9 - 10 1351 c.1074G>A c.(1072-1074)aaG>aaA p.K358K DPP9_ENST00000597849.1_Splice_Site_p.K358K|DPP9_ENST00000598800.1_Splice_Site_p.K329K|DPP9_ENST00000594671.1_Splice_Site_p.K329K NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 329 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GCCCCCTTACCTTGCCCTGGC 0.572000 12 20 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396802 38396802 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:38396802G>C ENST00000377698.3 + 2 1210 c.1057G>C c.(1057-1059)Gag>Cag p.E353Q NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 353 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GAACCCCTTTGAGCTGGACAC 0.557000 25 62 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2152630 2152630 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:2152630T>C ENST00000262304.4 - 25 9161 c.8953A>G c.(8953-8955)Aga>Gga p.R2985G PKD1_ENST00000423118.1_Missense_Mutation_p.R2985G NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2985 R -> G (in ADPKD1). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GCTGGGTCTCTGCTCCTGGGC 0.652000 10 27 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6750813 6750813 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:6750813C>T ENST00000378827.4 + 2 1259 c.40C>T c.(40-42)Ccc>Tcc p.P14S NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 14 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) GTTGCTGCTTCCCCAGGTCCT 0.716000 5 15 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77680748 77680748 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:77680748A>G ENST00000296043.6 + 9 6202 c.5249A>G c.(5248-5250)tAc>tGc p.Y1750C RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1750 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CCTGCCTACTACAGTGTGTCT 0.478000 14 40 0 0 1 0 0 UQCRC1 7384 broad.mit.edu 37 3 48646698 48646698 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:48646698G>A ENST00000203407.5 - 2 523 c.107C>T c.(106-108)gCa>gTa p.A36V NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 36 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) AGCGAAGGTTGCCGTACTCCG 0.677000 12 28 0 0 1 0 0 AIPL1 23746 broad.mit.edu 37 17 6338333 6338333 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:6338333G>A ENST00000381129.3 - 1 172 c.92C>T c.(91-93)tCc>tTc p.S31F AIPL1_ENST00000570466.1_Missense_Mutation_p.S31F|AIPL1_ENST00000576776.1_Missense_Mutation_p.S31F|AIPL1_ENST00000575265.1_Missense_Mutation_p.S31F|AIPL1_ENST00000576307.1_Missense_Mutation_p.S31F|AIPL1_ENST00000571740.1_Missense_Mutation_p.S31F|AIPL1_ENST00000574506.1_Missense_Mutation_p.S31F|AIPL1_ENST00000250087.5_Missense_Mutation_p.S31F NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 31 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) ACTCACTCGGGATCCGGTGAT 0.607000 15 32 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815555 43815555 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:43815555G>A ENST00000382031.1 + 5 2629 c.2598G>A c.(2596-2598)caG>caA p.Q866Q MAP1A_ENST00000300231.5_Silent_p.Q628Q|MAP1A_ENST00000399453.1_Silent_p.Q628Q P78559 MAP1A_HUMAN microtubule-associated protein 1A 628 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AAAAGAAGCAGAGGGAAGCAG 0.502000 6 10 0 0 1 0 0 SEPHS1 22929 broad.mit.edu 37 10 13361306 13361306 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:13361306C>T ENST00000327347.5 - 9 1390 c.1015G>A c.(1015-1017)Gag>Aag p.E339K SEPHS1_ENST00000378614.4_Missense_Mutation_p.E268K|SEPHS1_ENST00000537130.1_Missense_Mutation_p.E272K|SEPHS1_ENST00000545675.1_3'UTR NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 339 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 GACTTTATCTCTGCACAGAAC 0.483000 94 329 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196674502 196674502 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:196674502G>A ENST00000412723.1 - 3 1412 c.1266C>T c.(1264-1266)ctC>ctT p.L422L NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 422 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GGAGGGCACCGAGGGCGTTGA 0.647000 11 34 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12938348 12938348 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:12938348T>C ENST00000218032.6 + 2 1276 c.1189T>C c.(1189-1191)Tcg>Ccg p.S397P TLR8_ENST00000311912.5_Missense_Mutation_p.S415P NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 397 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TCCAAACTTATCGACTATCAA 0.353000 30 43 0 0 1 0 0 FCHSD2 9873 broad.mit.edu 37 11 72553845 72553845 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:72553845C>T ENST00000409314.1 - 18 1987 c.1819G>A c.(1819-1821)Gat>Aat p.D607N FCHSD2_ENST00000409263.1_Intron|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409418.4_Missense_Mutation_p.D583N|FCHSD2_ENST00000458644.2_Missense_Mutation_p.D447N|FCHSD2_ENST00000311172.7_Missense_Mutation_p.D527N O94868 FCSD2_HUMAN FCH and double SH3 domains 2 583 SH3 2. protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) AACTCATCATCTGTCTGGCCC 0.398000 12 27 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53337721 53337721 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:53337721C>G ENST00000566029.1 + 31 6012 c.5803C>G c.(5803-5805)Cgg>Ggg p.R1935G CHD9_ENST00000447540.1_Missense_Mutation_p.R1935G|CHD9_ENST00000398510.3_Missense_Mutation_p.R1935G|CHD9_ENST00000564845.1_Missense_Mutation_p.R1935G Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1935 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AAGGAAAGTACGGGAACAGGC 0.438000 22 13 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193175244 193175244 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:193175244A>T ENST00000342695.4 - 15 2007 c.1685T>A c.(1684-1686)tTt>tAt p.F562Y ATP13A4_ENST00000392443.3_Missense_Mutation_p.F543Y NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 562 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GTCCCCAGAAAAAGCCATTTC 0.473000 57 77 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 994563 994563 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:994563G>C ENST00000537687.1 + 19 6016 c.5373G>C c.(5371-5373)aaG>aaC p.K1791N WNK1_ENST00000535572.1_Missense_Mutation_p.K1284N|WNK1_ENST00000315939.6_Missense_Mutation_p.K1531N|WNK1_ENST00000530271.2_Missense_Mutation_p.K2029N|WNK1_ENST00000340908.4_Missense_Mutation_p.K1124N NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1531 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CACTAGATAAGACATCTCATA 0.478000 82 296 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607463 53607463 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:53607463A>G ENST00000425354.2 - 8 1322 c.835T>C c.(835-837)Tac>Cac p.Y279H RARG_ENST00000543726.1_Missense_Mutation_p.Y257H|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.Y207H|RARG_ENST00000338561.5_Missense_Mutation_p.Y268H|RARG_ENST00000394426.1_Missense_Mutation_p.Y279H NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 279 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TCTGGGGTGTACCTTGTGCAG 0.592000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 45 0 0 1 0 0 MARC1 64757 broad.mit.edu 37 1 220964944 220964944 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:220964944C>T ENST00000366910.5 + 2 573 c.387C>T c.(385-387)gcC>gcT p.A129A NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 129 molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding TCAGTGCAGCCTACACAAAGG 0.532000 8 51 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516636 140516636 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:140516636G>A ENST00000231134.5 + 1 1837 c.1620G>A c.(1618-1620)ctG>ctA p.L540L NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 540 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCGGCGCTGAGCAGCGAGG 0.692000 23 44 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 101038625 101038625 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:101038625G>C ENST00000193391.7 - 2 324 c.137C>G c.(136-138)tCt>tGt p.S46C NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 46 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CAGGAGAAAAGAAACTGCACT 0.413000 20 85 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161017554 161017554 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:161017554G>T ENST00000368013.3 - 12 3577 c.3257C>A c.(3256-3258)tCa>tAa p.S1086* ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.S909*|ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.S875* NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 1086 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AAATGCATATGACCTGCGCTG 0.557000 23 574 1.66031e-10 1.75285e-10 1 1 0 KCNA6 3742 broad.mit.edu 37 12 4919742 4919742 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:4919742G>A ENST00000433855.1 + 1 1401 c.535G>A c.(535-537)Gtc>Atc p.V179I KCNA6_ENST00000280684.3_Missense_Mutation_p.V179I NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 179 voltage-gated potassium channel complex voltage-gated potassium channel activity p.V179I(1) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CATCGCCATCGTCTCCGTGTT 0.592000 HNSCC(72;0.22) 16 42 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96797941 96797941 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:96797941G>A ENST00000359933.4 - 11 2395 c.1502C>T c.(1501-1503)tCa>tTa p.S501L NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 501 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TTCAGGCCTTGATTCATCCAC 0.313000 19 12 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40112112 40112112 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:40112112C>T ENST00000373233.3 - 16 2482 c.2305G>A c.(2305-2307)Gat>Aat p.D769N CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 769 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TCAGGGGCATCAGGGCTGTGG 0.448000 15 20 0 0 1 0 0 AAGAB 79719 broad.mit.edu 37 15 67529060 67529060 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:67529060T>C ENST00000261880.5 - 2 276 c.172A>G c.(172-174)Atc>Gtc p.I58V AAGAB_ENST00000542650.1_5'UTR|AAGAB_ENST00000561452.1_5'UTR NM_001271885.1|NM_001271886.1|NM_024666.3 NP_001258814.1|NP_001258815.1|NP_078942.3 Q6PD74 AAGAB_HUMAN alpha- and gamma-adaptin binding protein 58 protein transport cytoplasm breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 CATAGATTGATGTCTGCTGAA 0.378000 11 20 0 0 1 0 0 APOBEC4 403314 broad.mit.edu 37 1 183617405 183617405 + Missense_Mutation SNP C C T rs139605657 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:183617405C>T ENST00000308641.4 - 2 783 c.512G>A c.(511-513)cGc>cAc p.R171H APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 171 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 GAGAGCTTCGCGGTTCCATGC 0.463000 14 56 0 0 1 0 0 MRPL53 116540 broad.mit.edu 37 2 74699247 74699247 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:74699247C>T ENST00000258105.7 - 3 999 c.338G>A c.(337-339)tGa>tAa p.*113* MRPL53_ENST00000409710.1_3'UTR NM_053050.4 NP_444278.1 Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 0 mitochondrion|ribosome p.*113L(1) central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 TTGGCGCTGTCAGCGACCAGT 0.547000 27 49 0 0 1 0 0 RUSC1 23623 broad.mit.edu 37 1 155292282 155292282 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:155292282G>A ENST00000368352.5 + 2 869 c.718G>A c.(718-720)Gag>Aag p.E240K RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.E240K|RUSC1-AS1_ENST00000443642.1_RNA NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 240 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) AATTGACACAGAGAAAACTAA 0.418000 11 92 0 0 1 0 0 TTPA 7274 broad.mit.edu 37 8 63976765 63976765 + Splice_Site SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:63976765C>G ENST00000260116.4 - 4 694 c.663G>C c.(661-663)cgG>cgC p.R221R TTPA_ENST00000521138.1_Intron NM_000370.3 NP_000361.1 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 221 CRAL-TRIO. R -> W (in AVED; dbSNP:rs35916840). lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) TTTTACTCACCCGTTCCTTAA 0.368000 9 17 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 120176811 120176811 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:120176811C>T ENST00000313400.4 - 1 506 c.406G>A c.(406-408)Gac>Aac p.D136N ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.D136N|ASTN2_ENST00000361209.2_Missense_Mutation_p.D136N O75129 ASTN2_HUMAN astrotactin 2 136 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TTGTCCAGGTCGTCCTGCACC 0.706000 4 31 0 0 1 0 0 GSTO2 119391 broad.mit.edu 37 10 106037865 106037865 + Silent SNP A A G rs141797686 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:106037865A>G ENST00000369707.2 + 2 387 c.273A>G c.(271-273)ctA>ctG p.L91L GSTO2_ENST00000429569.2_Silent_p.L91L|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000401888.2_Silent_p.L119L|GSTO2_ENST00000450629.2_Silent_p.L119L|GSTO2_ENST00000338595.2_Silent_p.L119L NM_001191014.1 NP_001177943.1 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 GST N-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) TATTGGAGCTATTTTGTAAGG 0.378000 11 28 0 0 1 0 0 NR1I3 9970 broad.mit.edu 37 1 161203049 161203049 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:161203049C>T ENST00000367983.4 - 4 612 c.318G>A c.(316-318)ctG>ctA p.L106L NR1I3_ENST00000367982.4_Silent_p.L106L|NR1I3_ENST00000367984.4_Silent_p.L106L|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000512372.1_Silent_p.L77L|NR1I3_ENST00000367979.2_Silent_p.L106L|NR1I3_ENST00000437437.2_Silent_p.L77L|NR1I3_ENST00000367985.3_Silent_p.L106L|NR1I3_ENST00000505005.1_Silent_p.L106L|NR1I3_ENST00000506209.1_Silent_p.L77L|NR1I3_ENST00000508740.1_Silent_p.L77L|NR1I3_ENST00000367980.2_Silent_p.L106L|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000428574.2_Silent_p.L106L|NR1I3_ENST00000504010.1_Silent_p.L77L|NR1I3_ENST00000442691.2_Silent_p.L106L|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000412844.2_Silent_p.L77L|NR1I3_ENST00000515452.1_Silent_p.L106L|NR1I3_ENST00000367981.3_Silent_p.L77L|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000515621.1_Silent_p.L31L|NR1I3_ENST00000511676.1_Silent_p.L77L Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 106 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCTCCTTACTCAGTTGCACAG 0.587000 45 950 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10528976 10528976 + Translation_Start_Site SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:10528976A>T ENST00000379597.3 + 0 388 GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_De_novo_Start_OutOfFrame Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) AGAGGGGAAGAAGAAAGAAAA 0.473000 3 11 0 0 1 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67559951 67559951 + RNA SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:67559951G>A ENST00000528089.1 - 0 1799 CCTGGTAAATGAATTGGTTCT 0.552000 5 13 0 0 1 0 0 RTCA 8634 broad.mit.edu 37 1 100736190 100736190 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:100736190G>T ENST00000370128.4 + 4 537 c.368G>T c.(367-369)gGt>gTt p.G123V RTCA_ENST00000260563.4_Missense_Mutation_p.G136V|RTCA_ENST00000498617.1_3'UTR NM_003729.3 NP_003720.1 O00442 RTC1_HUMAN RNA 3'-terminal phosphate cyclase 123 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity CATTTGAAAGGTGGAACTAAT 0.448000 45 82 1.15183e-24 1.24599e-24 1 1 0 PI4KA 5297 broad.mit.edu 37 22 21188874 21188874 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:21188874C>G ENST00000255882.6 - 3 429 c.343G>C c.(343-345)Gaa>Caa p.E115Q PI4KA_ENST00000572273.1_Missense_Mutation_p.E57Q NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 57 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GCTGTGCTTTCTTCTACCCAA 0.338000 26 58 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43306539 43306539 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:43306539G>A ENST00000361428.2 - 10 5274 c.5197C>T c.(5197-5199)Cct>Tct p.P1733S ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1733 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) AACAGTTGAGGAGGTGGTTCT 0.468000 23 45 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856537 53856537 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:53856537G>C ENST00000458035.1 + 4 2726 c.2609G>C c.(2608-2610)aGa>aCa p.R870T ZNF845_ENST00000595091.1_Missense_Mutation_p.R870T NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 870 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTTTAATAGAAAAGCAAAC 0.378000 11 28 0 0 1 0 0 IPCEF1 26034 broad.mit.edu 37 6 154567864 154567864 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:154567864G>A ENST00000265198.4 - 5 259 c.104C>T c.(103-105)tCg>tTg p.S35L OPRM1_ENST00000337049.4_Missense_Mutation_p.R401Q|IPCEF1_ENST00000519344.1_Missense_Mutation_p.S7L|IPCEF1_ENST00000367220.4_Missense_Mutation_p.S36L|IPCEF1_ENST00000422970.2_Missense_Mutation_p.S36L NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 ATCTTTACACGATATCCTCCT 0.403000 16 56 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32016207 32016207 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:32016207G>A ENST00000375244.3 - 29 10179 c.9978C>T c.(9976-9978)taC>taT p.Y3326Y TNXB_ENST00000375247.2_Silent_p.Y3324Y P22105 TENX_HUMAN tenascin XB 3371 Fibronectin type-III 25. 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 GCAGGAACTTGTACTTGCGGG 0.682000 29 31 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70065245 70065245 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:70065245A>G ENST00000330891.5 - 9 1289 c.1063T>C c.(1063-1065)Tgc>Cgc p.C355R BEST3_ENST00000476098.1_Missense_Mutation_p.C142R|BEST3_ENST00000553096.1_Missense_Mutation_p.C249R|BEST3_ENST00000331471.4_Missense_Mutation_p.C355R|BEST3_ENST00000488961.1_Missense_Mutation_p.C142R NM_001282613.1|NM_032735.2 NP_001269542.1|NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 355 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GAGGGTATGCAGTAGTCAGCA 0.458000 25 694 0 0 1 0 0 PFKM 5213 broad.mit.edu 37 12 48537866 48537866 + Missense_Mutation SNP A A G rs142495522 by1000genomes TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:48537866A>G ENST00000340802.6 + 22 2355 c.2131A>G c.(2131-2133)Att>Gtt p.I711V PFKM_ENST00000312352.7_Missense_Mutation_p.I640V|PFKM_ENST00000547587.1_Missense_Mutation_p.I640V|PFKM_ENST00000359794.5_Missense_Mutation_p.I640V|PFKM_ENST00000551804.1_Missense_Mutation_p.I609V|PFKM_ENST00000395233.2_Missense_Mutation_p.I609V NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 640 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CACTGACTTCATTTTCAACCT 0.512000 45 121 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186953885 186953885 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:186953885C>G ENST00000296280.6 - 11 1999 c.1774G>C c.(1774-1776)Ggc>Cgc p.G592R MASP1_ENST00000392472.2_Missense_Mutation_p.G479R|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 588 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ATGCCCCAGCCGGCCACCAGG 0.617000 17 84 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65392276 65392276 + Translation_Start_Site SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:65392276G>A ENST00000336279.5 + 0 284 HEPH_ENST00000374727.3_Missense_Mutation_p.D86N|HEPH_ENST00000419594.1_Missense_Mutation_p.D86N|HEPH_ENST00000343002.2_Missense_Mutation_p.D83N|HEPH_ENST00000441993.2_Missense_Mutation_p.D86N|HEPH_ENST00000519389.1_Missense_Mutation_p.D137N NM_014799.2 NP_055614.1 Q9BQS7 HEPH_HUMAN hephaestin cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 AGAATACAAGGATGACTCATA 0.483000 15 28 0 0 1 0 0 LOC146880 146880 broad.mit.edu 37 17 62746753 62746753 + RNA SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:62746753G>A ENST00000400873.3 - 0 2473 NR_026899.1 AGTCAGATACGGAGGAAATCC 0.552000 15 45 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106139804 106139804 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:106139804C>T ENST00000369704.3 + 9 1325 c.1191C>T c.(1189-1191)gtC>gtT p.V397V CCDC147_ENST00000312902.5_Silent_p.V19V|CCDC147_ENST00000369703.1_Silent_p.V19V NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 397 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TTAAGGCGGTCAATGCGACCC 0.453000 16 61 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49132182 49132182 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:49132182C>T ENST00000443164.1 + 5 2008 c.1303C>T c.(1303-1305)Cgc>Tgc p.R435C SPHK2_ENST00000600537.1_Missense_Mutation_p.R314C|SPHK2_ENST00000598088.1_Missense_Mutation_p.R373C|SPHK2_ENST00000599029.1_Missense_Mutation_p.R337C|SPHK2_ENST00000599748.1_Missense_Mutation_p.R337C|SPHK2_ENST00000245222.4_Missense_Mutation_p.R373C|SPHK2_ENST00000340932.3_Missense_Mutation_p.R335C Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 373 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GCACACCTACCGCGGACGCCT 0.662000 15 68 0 0 1 0 0 CDKL2 8999 broad.mit.edu 37 4 76532404 76532404 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:76532404C>G ENST00000429927.2 - 4 1208 c.505G>C c.(505-507)Gct>Cct p.A169P CDKL2_ENST00000307465.4_Missense_Mutation_p.A169P NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 169 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGTTCTGGAGCTCTGTACCAT 0.453000 14 33 0 0 1 0 0 TAF15 8148 broad.mit.edu 37 17 34171988 34171988 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:34171988G>A ENST00000588240.1 + 15 1800 c.1685G>A c.(1684-1686)cGa>cAa p.R562Q TAF15_ENST00000592237.1_Missense_Mutation_p.E367K|TAF15_ENST00000311979.3_Missense_Mutation_p.R559Q NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 562 21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GGAGGAGACCGAGGTGGGGGC 0.567000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 38 92 0 0 1 0 0 MAPKAPK5 8550 broad.mit.edu 37 12 112326395 112326395 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:112326395C>T ENST00000550735.2 + 11 1829 c.1073C>T c.(1072-1074)cCc>cTc p.P358L MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.P358L NM_003668.2|NM_139078.1 NP_003659.2|NP_620777.1 Q8IW41 MAPK5_HUMAN mitogen-activated protein kinase-activated protein kinase 5 358 signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity endometrium(1)|lung(11)|ovary(1) 13 GTGAACAACCCCATTCTGCGG 0.478000 29 93 0 0 1 0 0 SOX4 6659 broad.mit.edu 37 6 21595158 21595158 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:21595158G>A ENST00000244745.1 + 1 1187 c.393G>A c.(391-393)agG>agA p.R131R SOX4_ENST00000543472.1_Silent_p.R131R NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 131 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) ACCGGCCCAGGAAGAAGGTGA 0.642000 4 20 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11911713 11911713 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:11911713G>C ENST00000256720.2 + 4 597 c.504G>C c.(502-504)aaG>aaC p.K168N LPIN1_ENST00000425416.2_Missense_Mutation_p.K174N|LPIN1_ENST00000396099.1_Missense_Mutation_p.K174N|LPIN1_ENST00000449576.2_Missense_Mutation_p.K217N|LPIN1_ENST00000396098.1_Missense_Mutation_p.K174N NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 168 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) ACAGCCTGAAGAGAGATGACA 0.527000 3 20 0 0 1 0 0 UCK1 83549 broad.mit.edu 37 9 134405894 134405894 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:134405894G>A ENST00000372215.4 - 2 340 c.247C>T c.(247-249)Cag>Tag p.Q83* UCK1_ENST00000372210.3_Nonsense_Mutation_p.Q74*|UCK1_ENST00000372211.3_Nonsense_Mutation_p.Q88*|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Nonsense_Mutation_p.Q83* NM_001261450.1|NM_001261451.1|NM_031432.2 NP_001248379.1|NP_001248380.1|NP_113620.1 Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 83 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) AAATTGTACTGTCCTTTCAAG 0.597000 23 94 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10621842 10621842 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:10621842C>G ENST00000254958.5 - 24 3482 c.2967G>C c.(2965-2967)ttG>ttC p.L989F JAG1_ENST00000423891.2_Missense_Mutation_p.L830F NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 989 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 AAACATTCTTCAAAATATTCA 0.393000 Alagille Syndrome 32 41 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61102816 61102816 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:61102816C>T ENST00000196169.3 + 11 1966 c.1178C>T c.(1177-1179)cCt>cTt p.P393L TDRD3_ENST00000535286.1_Missense_Mutation_p.P486L|TDRD3_ENST00000377881.2_Missense_Mutation_p.P393L|TDRD3_ENST00000377894.2_Missense_Mutation_p.P393L NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 393 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) ACTTCATATCCTTTAGGTTCT 0.373000 12 31 0 0 1 0 0 MATN1 4146 broad.mit.edu 37 1 31189102 31189102 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:31189102C>A ENST00000373765.4 - 5 896 c.861G>T c.(859-861)agG>agT p.R287S MATN1_ENST00000477320.1_5'UTR NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 287 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) AGTTCTCTGGCCTCACACTCT 0.567000 13 44 7.93312e-07 8.28475e-07 1 1 0 RPS6KA6 27330 broad.mit.edu 37 X 83419374 83419374 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:83419374C>T ENST00000262752.2 - 2 110 c.103G>A c.(103-105)Gat>Aat p.D35N RPS6KA6_ENST00000543399.1_Missense_Mutation_p.D35N NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 35 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ATTGGCTCATCAACCATTTTA 0.308000 5 15 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52425569 52425569 + Silent SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:52425569G>T ENST00000420323.2 + 63 10263 c.10002G>T c.(10000-10002)acG>acT p.T3334T NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3399 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CACACTACACGCCCGAGATCT 0.597000 9 25 0.000274275 0.000279778 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51889428 51889428 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:51889428G>A ENST00000371117.3 - 32 5455 c.5180C>T c.(5179-5181)tCa>tTa p.S1727L PKHD1_ENST00000340994.4_Missense_Mutation_p.S1727L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1727 IPT/TIG 12; atypical. 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) CAGGGCAGATGAGGCCCACCC 0.507000 22 66 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126062839 126062839 + Silent SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:126062839C>G ENST00000318410.7 - 18 2515 c.2166G>C c.(2164-2166)ctG>ctC p.L722L KIAA0196_ENST00000517845.1_Silent_p.L574L NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 722 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) GTCCCCTATGCAGGGCAAAGG 0.498000 17 92 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148583134 148583134 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:148583134C>T ENST00000296046.3 + 1 92 c.40C>T c.(40-42)Ctt>Ttt p.L14F RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 14 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TGCTACCACTCTTGCAATTGC 0.453000 16 98 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75066940 75066940 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:75066940G>A ENST00000453279.2 - 7 1197 c.333C>T c.(331-333)ctC>ctT p.L111L POM121C_ENST00000257665.5_Silent_p.L353L NM_001099415.1 NP_001092885 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 353 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 TCTGAGAATTGAGGCCTCTCT 0.468000 27 56 0 0 1 0 0 TTC5 91875 broad.mit.edu 37 14 20767554 20767554 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:20767554C>T ENST00000258821.3 - 4 506 c.450G>A c.(448-450)cgG>cgA p.R150R NM_138376.2 NP_612385.2 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 150 DNA repair cytoplasm|nucleus binding endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) CAGTGTCAGTCCGCAGCTGAC 0.502000 19 77 0 0 1 0 0 TUSC5 286753 broad.mit.edu 37 17 1183494 1183494 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:1183494G>A ENST00000333813.3 + 1 538 c.199G>A c.(199-201)Gag>Aag p.E67K NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 67 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGCCATCTCCGAGGGGCACCT 0.632000 19 34 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38924610 38924610 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:38924610C>G ENST00000274276.3 + 14 2359 c.1957C>G c.(1957-1959)Caa>Gaa p.Q653E NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 653 Fibronectin type-III 4. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity p.Q653*(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TACTGAATCTCAACCTGGTTT 0.448000 16 70 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45872219 45872219 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:45872219T>C ENST00000391945.4 - 4 292 c.215A>G c.(214-216)tAc>tGc p.Y72C ERCC2_ENST00000391940.4_Missense_Mutation_p.Y48C|ERCC2_ENST00000391944.3_Missense_Mutation_p.Y72C|ERCC2_ENST00000221481.6_Missense_Mutation_p.Y72C|ERCC2_ENST00000485403.2_Missense_Mutation_p.Y48C NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 72 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TCTTGAGCAGTAGATGAGTTT 0.577000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 29 123 0 0 1 0 0 ADRA2C 152 broad.mit.edu 37 4 3768916 3768916 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:3768916G>A ENST00000330055.5 + 1 792 c.583G>A c.(583-585)Gac>Aac p.D195N ADRA2C_ENST00000509482.1_Missense_Mutation_p.D195N NM_000683.3 NP_000674.2 P18825 ADA2C_HUMAN adrenoceptor alpha 2C 195 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CCGCCAGCCCGACGGCGCCGC 0.677000 8 19 0 0 1 0 0 BTC 685 broad.mit.edu 37 4 75673319 75673319 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:75673319C>T ENST00000395743.3 - 5 829 c.469G>A c.(469-471)Gaa>Aaa p.E157K NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 157 positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) GTTTCCATTTCTTCTTCTTTC 0.343000 14 27 0 0 1 0 0 DZIP1L 199221 broad.mit.edu 37 3 137822349 137822349 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:137822349C>G ENST00000327532.2 - 2 827 c.465G>C c.(463-465)caG>caC p.Q155H DZIP1L_ENST00000469243.1_Missense_Mutation_p.Q155H NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 155 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GCATTAGCAGCTGCTGCAGGG 0.652000 15 36 0 0 1 0 0 CREG2 200407 broad.mit.edu 37 2 101967409 101967409 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:101967409G>A ENST00000324768.5 - 4 986 c.849C>T c.(847-849)ttC>ttT p.F283F NM_153836.3 NP_722578.1 Q8IUH2 CREG2_HUMAN cellular repressor of E1A-stimulated genes 2 extracellular region FMN binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 GAACTGCTTTGAAATATTCCT 0.418000 20 53 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 103062879 103062879 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:103062879G>C ENST00000262457.2 + 17 3306 c.3121G>C c.(3121-3123)Gag>Cag p.E1041Q INVS_ENST00000262456.2_Missense_Mutation_p.E871Q NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 1041 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) ACATCTCCTTGAGAACAGTGG 0.363000 5 26 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124952257 124952257 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:124952257G>A ENST00000360647.4 - 9 1798 c.1313C>T c.(1312-1314)tCa>tTa p.S438L ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.S438L|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.S438L|ZNF148_ENST00000485866.1_Missense_Mutation_p.S438L|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 438 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 ATTGCCTTCTGAGTCCAGTAA 0.393000 20 89 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152084422 152084422 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:152084422T>C ENST00000368804.1 - 2 1270 c.1271A>G c.(1270-1272)cAg>cGg p.Q424R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 424 8 X 6 AA tandem repeats of R-R-E-Q-Q-L. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCGCCTCAGCTGCTGCTCGCG 0.706000 19 115 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62200074 62200074 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:62200074G>C ENST00000467148.1 - 5 1436 c.1367C>G c.(1366-1368)gCc>gGc p.A456G NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CAGCCCCAGGGCCAAGCAGCA 0.672000 3 4 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151141927 151141927 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:151141927G>C ENST00000296550.7 + 6 1883 c.1129G>C c.(1129-1131)Gaa>Caa p.E377Q DCLK2_ENST00000302176.8_Missense_Mutation_p.E394Q|DCLK2_ENST00000506325.1_Missense_Mutation_p.E376Q NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 377 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) CATAAGTCCTGAAGGTAGTTC 0.413000 9 26 0 0 1 0 0 DUSP12 11266 broad.mit.edu 37 1 161721656 161721656 + Splice_Site SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:161721656G>A ENST00000367943.4 + 3 491 c.459G>A c.(457-459)aaG>aaA p.K153K NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 153 Tyrosine-protein phosphatase. positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) ATCATTACAGGATGAATGAGG 0.318000 9 43 0 0 1 0 0 AGPAT4 56895 broad.mit.edu 37 6 161560503 161560503 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:161560503C>G ENST00000320285.4 - 8 1205 c.993G>C c.(991-993)agG>agC p.R331S AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R169S NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 331 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) AAGACCCGCTCCTGATCATGC 0.632000 39 117 0 0 1 0 0 P2RY1 5028 broad.mit.edu 37 3 152554519 152554519 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:152554519C>T ENST00000305097.3 + 1 1784 c.948C>T c.(946-948)aaC>aaT p.N316N NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 316 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) CAAGTCTCAACAGTTGTGTGG 0.483000 19 117 0 0 1 0 0 TTC13 79573 broad.mit.edu 37 1 231079566 231079566 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:231079566C>G ENST00000366661.4 - 6 665 c.658G>C c.(658-660)Gag>Cag p.E220Q TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 220 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) GCTCGCTGCTCAAATACCTCT 0.378000 19 90 0 0 1 0 0 RNF217 154214 broad.mit.edu 37 6 125283978 125283978 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:125283978C>T ENST00000521654.2 + 1 288 c.288C>T c.(286-288)ctC>ctT p.L96L RP11-510H23.1_ENST00000439075.1_RNA|RNF217_ENST00000560949.1_5'UTR Q8TC41 RN217_HUMAN ring finger protein 217 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CCGGGCCTCTCAATCCCCAGA 0.687000 11 35 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106960959 106960959 + Missense_Mutation SNP T T G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:106960959T>G ENST00000369701.3 + 16 2436 c.2209T>G c.(2209-2211)Tca>Gca p.S737A SORCS3_ENST00000369699.4_Missense_Mutation_p.S23A NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 737 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CCGAGACCACTCAGGATCAGT 0.488000 26 70 0 0 1 0 0 FAM72A 729533 broad.mit.edu 37 1 206145485 206145485 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:206145485C>A ENST00000367128.3 + 3 1110 c.262C>A c.(262-264)Cca>Aca p.P88T FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000341209.5_Missense_Mutation_p.P48T|FAM72A_ENST00000367129.2_Missense_Mutation_p.P88T Q5TYM5 FA72A_HUMAN family with sequence similarity 72, member A 88 endometrium(2) 2 TGTGATTGTTCCATGTAGTTC 0.373000 63 72 8.07507e-42 8.81414e-42 1 1 0 C16orf87 388272 broad.mit.edu 37 16 46836948 46836948 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:46836948G>A ENST00000394806.2 - 3 210 c.198C>T c.(196-198)aaC>aaT p.N66N C16orf87_ENST00000285697.4_Silent_p.N127N|C16orf87_ENST00000564250.1_5'UTR Q6PH81 CP087_HUMAN chromosome 16 open reading frame 87 127 large_intestine(4)|urinary_tract(1) 5 CATCAGACAGGTTAGCATAGA 0.299000 15 18 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111950214 111950214 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:111950214T>C ENST00000305815.5 - 13 1818 c.1566A>G c.(1564-1566)gcA>gcG p.A522A SLC9C1_ENST00000487372.1_Silent_p.A474A NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 522 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity GTACTATTTGTGCTGACAAGA 0.358000 13 48 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24372723 24372723 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:24372723G>A ENST00000005284.3 + 4 1689 c.487G>A c.(487-489)Gac>Aac p.D163N NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 163 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CAACGCCGGAGACCCCGGGCA 0.448000 33 216 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48679390 48679390 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:48679390G>C ENST00000544264.1 - 33 9013 c.8733C>G c.(8731-8733)ctC>ctG p.L2911L CELSR3_ENST00000164024.4_Silent_p.L2906L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2906 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ATGGAATGGAGAGACTCCTCT 0.592000 5 20 0 0 1 0 0 FAM63A 55793 broad.mit.edu 37 1 150974766 150974766 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:150974766C>T ENST00000361936.5 - 3 1282 c.328G>A c.(328-330)Gag>Aag p.E110K FAM63A_ENST00000312210.5_5'UTR|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Missense_Mutation_p.E15K|FAM63A_ENST00000361738.6_Missense_Mutation_p.E158K NM_018379.4 NP_060849 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 110 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) AAATCTGGCTCAGGCTGTCGG 0.572000 24 201 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90281277 90281277 + Silent SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:90281277T>A ENST00000405460.2 + 85 18186 c.18090T>A c.(18088-18090)gtT>gtA p.V6030V GPR98_ENST00000425867.2_Silent_p.V1691V NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6030 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCTCATAGTTATTTTGAAAG 0.443000 9 9 0 0 1 0 0 PPM1E 22843 broad.mit.edu 37 17 57033080 57033080 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:57033080T>C ENST00000308249.2 + 2 664 c.535T>C c.(535-537)Tct>Cct p.S179P NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 188 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) GAGTGATCTTTCTGCACATTA 0.393000 31 73 0 0 1 0 0 RLN1 6013 broad.mit.edu 37 9 5339740 5339740 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:5339740G>A ENST00000223858.4 - 1 133 c.7C>T c.(7-9)Cgc>Tgc p.R3C RLN1_ENST00000223862.1_Missense_Mutation_p.R3C P04808 REL1_HUMAN relaxin 1 3 female pregnancy|signal transduction extracellular region hormone activity large_intestine(1)|lung(4) 5 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984) AAGAACAGGCGAGGCATCCTG 0.547000 70 64 0 0 1 0 0 BMPR1B 658 broad.mit.edu 37 4 96046237 96046237 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:96046237C>T ENST00000515059.1 + 8 833 c.550C>T c.(550-552)Cag>Tag p.Q184* BMPR1B_ENST00000394931.1_Nonsense_Mutation_p.Q184*|BMPR1B_ENST00000440890.2_Nonsense_Mutation_p.Q214*|BMPR1B_ENST00000264568.4_Nonsense_Mutation_p.Q184* NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 184 GS. BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) TGAGCAGTCTCAGAGCTCAGG 0.418000 12 25 0 0 1 0 0 PPP5C 5536 broad.mit.edu 37 19 46893381 46893381 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:46893381A>T ENST00000012443.4 + 12 1532 c.1429A>T c.(1429-1431)Aca>Tca p.T477S PPP5C_ENST00000391919.1_Missense_Mutation_p.T349S NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 477 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) CCACCAGTTCACAGCAGTGGT 0.637000 35 37 0 0 1 0 0 PTPRA 5786 broad.mit.edu 37 20 2945684 2945684 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:2945684C>G ENST00000216877.6 + 5 651 c.251C>G c.(250-252)tCt>tGt p.S84C PTPRA_ENST00000399903.2_Missense_Mutation_p.S84C|PTPRA_ENST00000318266.5_Missense_Mutation_p.S84C|PTPRA_ENST00000356147.3_Missense_Mutation_p.S84C|PTPRA_ENST00000380393.3_Missense_Mutation_p.S84C|PTPRA_ENST00000425918.2_Missense_Mutation_p.S95C|PTPRA_ENST00000358719.4_5'UTR NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 84 axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TCTTCAGACTCTGACAATGGG 0.433000 24 94 0 0 1 0 0 GPATCH2L 55668 broad.mit.edu 37 14 76668107 76668107 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:76668107G>A ENST00000261530.7 + 10 1428 c.1362G>A c.(1360-1362)gtG>gtA p.V454V GPATCH2L_ENST00000556675.1_Intron|GPATCH2L_ENST00000312858.5_Silent_p.V449V NM_017926.2 NP_060396.2 G patch domain containing 2-like AGTGGTTGGTGAGGACCTCTG 0.498000 45 32 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62339939 62339939 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:62339939G>A ENST00000328969.5 + 2 134 c.7G>A c.(7-9)Gag>Aag p.E3K ZGPAT_ENST00000369967.3_Missense_Mutation_p.E3K|ZGPAT_ENST00000355969.6_Missense_Mutation_p.E3K|ZGPAT_ENST00000448100.2_Missense_Mutation_p.E3K|ZGPAT_ENST00000357119.4_Missense_Mutation_p.E3K NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 3 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CAGCATGGACGAGGAGAGCCT 0.682000 6 34 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33509250 33509250 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:33509250C>T ENST00000360596.2 + 11 1606 c.1395C>T c.(1393-1395)ttC>ttT p.F465F ACSS2_ENST00000253382.5_Silent_p.F478F|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Silent_p.F415F NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 465 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGGACACCTTCTGGCAAACAG 0.572000 23 36 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328064 152328064 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:152328064C>T ENST00000388718.5 - 3 2270 c.2198G>A c.(2197-2199)gGc>gAc p.G733D FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 733 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCATGTTGGCCAAAGCTGGA 0.493000 109 2932 0 0 1 0 0 MAP10 54627 broad.mit.edu 37 1 232941206 232941206 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:232941206C>T ENST00000418460.1 + 1 564 c.437C>T c.(436-438)tCg>tTg p.S146L NM_019090.2 NP_061963.2 microtubule-associated protein 10 ATGGCGGCCTCGCTGTCCGAG 0.677000 9 14 0 0 1 0 0 JADE2 23338 broad.mit.edu 37 5 133896638 133896638 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:133896638T>C ENST00000395003.1 + 6 854 c.675T>C c.(673-675)tgT>tgC p.C225C PHF15_ENST00000361895.2_Silent_p.C225C|PHF15_ENST00000402835.1_Silent_p.C225C|PHF15_ENST00000282605.4_Silent_p.C225C NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 225 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCAACGTCTGTGTGCATCAGG 0.607000 9 23 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336276 126336276 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:126336276C>T ENST00000394329.3 + 5 6171 c.6158C>T c.(6157-6159)tCc>tTc p.S2053F FAT4_ENST00000335110.5_Missense_Mutation_p.S351F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2053 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACATTTCTTTCCCCTAAATTG 0.418000 20 75 0 0 1 0 0 TMEM117 84216 broad.mit.edu 37 12 44338099 44338099 + Missense_Mutation SNP T T G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:44338099T>G ENST00000266534.3 + 3 491 c.364T>G c.(364-366)Ttt>Gtt p.F122V TMEM117_ENST00000551577.1_Missense_Mutation_p.F122V|TMEM117_ENST00000536799.1_Missense_Mutation_p.I51S NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 122 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TCTCTTCATATTTTCTCACAT 0.373000 28 47 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9528444 9528444 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:9528444G>A ENST00000281419.3 + 22 2492 c.2152G>A c.(2152-2154)Gac>Aac p.D718N ASAP2_ENST00000315273.4_Missense_Mutation_p.D718N|ASAP2_ENST00000491413.1_3'UTR NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 718 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 CCGGCGGGAAGACCGGCCCAT 0.547000 26 72 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25778852 25778852 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:25778852C>T ENST00000428257.1 - 6 1083 c.976G>A c.(976-978)Gaa>Aaa p.E326K NGLY1_ENST00000417874.2_Missense_Mutation_p.E284K|NGLY1_ENST00000396649.3_Missense_Mutation_p.E326K|NGLY1_ENST00000280700.5_Missense_Mutation_p.E326K|NGLY1_ENST00000422724.2_3'UTR NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 326 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 TAGCGAGCTTCAAACCCTACA 0.478000 10 21 0 0 1 0 0 LAMTOR2 28956 broad.mit.edu 37 1 156025060 156025060 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:156025060G>A ENST00000368305.4 + 2 213 c.75G>A c.(73-75)ctG>ctA p.L25L LAMTOR2_ENST00000368302.3_Silent_p.L25L|LAMTOR2_ENST00000489664.1_3'UTR|LAMTOR2_ENST00000368304.5_Silent_p.L25L NM_014017.3 NP_054736.1 Q9Y2Q5 LTOR2_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 25 cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosomal membrane|Ragulator complex breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 CCAGGCTGCTGAATAACGAGG 0.612000 37 177 0 0 1 0 0 CDC123 8872 broad.mit.edu 37 10 12257760 12257760 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:12257760G>A ENST00000281141.4 + 5 539 c.259G>A c.(259-261)Gcc>Acc p.A87T CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Missense_Mutation_p.A87T NM_006023.2 NP_006014.2 O75794 CD123_HUMAN cell division cycle 123 87 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 TCCTGAGTTTGCCACTAAAGT 0.408000 14 47 0 0 1 0 0 KRT10 3858 broad.mit.edu 37 17 38975803 38975803 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:38975803G>A ENST00000269576.5 - 6 1348 c.1339C>T c.(1339-1341)Caa>Taa p.Q447* TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412 P13645 K1C10_HUMAN keratin 10 447 Coil 2.|Gly-rich.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) CGGTAGGTTTGAATTTCATTC 0.398000 22 77 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104171253 104171253 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:104171253A>G ENST00000374861.3 + 3 1445 c.1161A>G c.(1159-1161)aaA>aaG p.K387K ZNF189_ENST00000339664.2_Silent_p.K401K|ZNF189_ENST00000259395.4_Silent_p.K359K NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 401 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) AGCCCCATAAATGTGAGGAAT 0.423000 14 44 0 0 1 0 0 ZNF396 252884 broad.mit.edu 37 18 32954038 32954038 + Silent SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr18:32954038G>C ENST00000306346.1 - 2 350 c.219C>G c.(217-219)ctC>ctG p.L73L ZNF396_ENST00000586687.1_Silent_p.L73L|ZNF396_ENST00000589332.1_Silent_p.L73L NM_145756.2 NP_665699.1 Q96N95 ZN396_HUMAN zinc finger protein 396 73 SCAN box. viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 7 AAAGTTCCCAGAGCCGGCTCA 0.597000 31 62 0 0 1 0 0 C5orf34 375444 broad.mit.edu 37 5 43506427 43506427 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:43506427C>T ENST00000306862.2 - 4 730 c.355G>A c.(355-357)Gag>Aag p.E119K RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 119 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) ATGCCACTCTCCATATATATC 0.413000 20 24 0 0 1 0 0 ZDHHC21 340481 broad.mit.edu 37 9 14674302 14674302 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:14674302C>A ENST00000380916.4 - 4 503 c.37G>T c.(37-39)Ggt>Tgt p.G13C NM_178566.4 NP_848661.1 Q8IVQ6 ZDH21_HUMAN zinc finger, DHHC-type containing 21 nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 GBM - Glioblastoma multiforme(50;4.31e-06) CAGCACCAACCATGTGGGTCA 0.403000 29 154 6.38683e-12 6.78733e-12 1 1 0 WDR13 64743 broad.mit.edu 37 X 48460562 48460562 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:48460562C>T ENST00000218056.5 + 7 1627 c.1122C>T c.(1120-1122)atC>atT p.I374I WDR13_ENST00000376729.5_Silent_p.I374I NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 374 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 CACTGCTCATCAATGCTTGCC 0.627000 14 27 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4125841 4125841 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:4125841G>A ENST00000324333.10 - 2 217 c.24C>T c.(22-24)ctC>ctT p.L8L GLIS3_ENST00000381971.3_Silent_p.L163L NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 8 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GAGGTGAAATGAGTCCCAGTC 0.522000 22 149 0 0 1 0 0 THAP9 79725 broad.mit.edu 37 4 83825922 83825922 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:83825922G>C ENST00000302236.5 + 2 165 c.114G>C c.(112-114)tgG>tgC p.W38C NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 38 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) GCTCAAAATGGATCAGGGCTG 0.363000 19 39 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5699372 5699372 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:5699372G>T ENST00000344408.5 - 2 284 c.231C>A c.(229-231)gaC>gaA p.D77E EVC2_ENST00000310917.2_5'UTR|EVC2_ENST00000344938.1_Missense_Mutation_p.D77E NM_147127.4 NP_667338.3 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 77 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TACAGGGCAAGTCCTAAAAAA 0.378000 6 20 3.09899e-07 3.23985e-07 1 1 0 VAV2 7410 broad.mit.edu 37 9 136671208 136671208 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:136671208C>T ENST00000371851.1 - 8 1141 c.816G>A c.(814-816)aaG>aaA p.K272K VAV2_ENST00000406606.3_Silent_p.K272K|VAV2_ENST00000371850.3_Silent_p.K277K P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 277 DH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CTCACCTTTCCTTGAAATCGA 0.602000 3 17 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711111 140711111 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:140711111G>C ENST00000517417.1 + 1 860 c.860G>C c.(859-861)aGa>aCa p.R287T PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R287T NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAGACCACAGAGTGGCCCAA 0.418000 23 43 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70681804 70681804 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:70681804C>T ENST00000377844.4 - 1 787 c.28G>A c.(28-30)Gat>Aat p.D10N ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 10 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.D10N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TGCTTCACATCGAAGTCTTTT 0.627000 4 15 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185159688 185159688 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:185159688G>C ENST00000367500.4 + 10 1602 c.1437G>C c.(1435-1437)ttG>ttC p.L479F SWT1_ENST00000367501.3_Missense_Mutation_p.L479F NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 479 PINc. breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 CAGATGGATTGAGTGATGAGA 0.363000 7 33 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189871168 189871168 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:189871168G>A ENST00000304636.3 + 43 3361 c.3191G>A c.(3190-3192)aGa>aAa p.R1064K COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1064 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGTGGTGACAGAGGAGAAAGT 0.507000 7 29 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 14 0.004672 0.00472581 1 1 0 SOS1 6654 broad.mit.edu 37 2 39240676 39240676 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:39240676C>T ENST00000426016.1 - 14 2178 c.2092G>A c.(2092-2094)Gag>Aag p.E698K SOS1_ENST00000402219.2_Missense_Mutation_p.E698K|SOS1_ENST00000395038.2_Missense_Mutation_p.E698K Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 698 N-terminal Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AAGTGGTGCTCTACCCAGTGC 0.333000 Noonan syndrome 22 95 0 0 1 0 0 C1orf43 25912 broad.mit.edu 37 1 154184941 154184941 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:154184941C>T ENST00000368521.5 - 5 698 c.500G>A c.(499-501)gGg>gAg p.G167E C1orf43_ENST00000368516.1_Missense_Mutation_p.G133E|C1orf43_ENST00000368518.1_Missense_Mutation_p.G167E|C1orf43_ENST00000350592.3_Missense_Mutation_p.G133E|C1orf43_ENST00000362076.4_Missense_Mutation_p.G115E|C1orf43_ENST00000368519.1_Missense_Mutation_p.G149E NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 167 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) TACCCCTGTCCCATAGCGGGC 0.488000 31 113 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900584 123900584 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:123900584C>T ENST00000431524.1 + 1 288 c.255C>T c.(253-255)ttC>ttT p.F85F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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;0.0521) CTTTGGTGTTCCCAAGTGGCA 0.517000 52 117 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92554305 92554305 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:92554305C>T ENST00000370382.3 + 2 467 c.200C>T c.(199-201)aCt>aTt p.T67I BTBD8_ENST00000540648.1_Missense_Mutation_p.T67I|BTBD8_ENST00000342818.3_Missense_Mutation_p.T67I Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 67 BTB 1. nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) GTGGGTTGTACTTTGTTCAAA 0.348000 7 38 0 0 1 0 0 CCDC28A 25901 broad.mit.edu 37 6 139100964 139100964 + Missense_Mutation SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:139100964T>A ENST00000332797.6 + 3 589 c.434T>A c.(433-435)aTg>aAg p.M145K NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 145 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TACAGAGTGATGAAAGAAAAG 0.408000 32 32 0 0 1 0 0 SETD4 54093 broad.mit.edu 37 21 37410507 37410507 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr21:37410507C>A ENST00000399215.1 - 9 2501 c.1129G>T c.(1129-1131)Gac>Tac p.D377Y SETD4_ENST00000399212.1_Missense_Mutation_p.D353Y|SETD4_ENST00000332131.4_Missense_Mutation_p.D377Y|SETD4_ENST00000481477.1_5'UTR|AP000688.1_ENST00000600312.1_Intron Q9NVD3 SETD4_HUMAN SET domain containing 4 377 EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 TGGGCTATGTCCAAACTTGTC 0.353000 30 43 3.65163e-15 3.91072e-15 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7826544 7826544 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:7826544G>T ENST00000439411.2 + 22 4942 c.4942G>T c.(4942-4944)Gaa>Taa p.E1648* CAMTA1_ENST00000303635.7_Missense_Mutation_p.G1672V|CAMTA1_ENST00000476864.1_Nonsense_Mutation_p.E226* Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AAAGGCCAAGGAACTTGAAGA 0.388000 T WWTR1 epitheliod hemangioendothelioma 12 31 0.00185496 0.00188224 1 1 0 INO80D 54891 broad.mit.edu 37 2 206921045 206921045 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:206921045C>T ENST00000403263.1 - 4 1245 c.841G>A c.(841-843)Gac>Aac p.D281N NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 281 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 AGGATCCGGTCAGTCCTGGGT 0.552000 15 40 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14746120 14746120 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:14746120C>T ENST00000253697.3 + 7 1607 c.1155C>T c.(1153-1155)ttC>ttT p.F385F C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Silent_p.F263F|C3orf20_ENST00000412910.1_Silent_p.F263F NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 385 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GCTCCTCCTTCGTTTAGTATC 0.463000 22 127 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48138202 48138202 + Missense_Mutation SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:48138202G>T ENST00000311303.3 - 20 3096 c.2751C>A c.(2749-2751)gaC>gaA p.D917E ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 917 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CATCCAGCTCGTCCATATCCT 0.473000 55 47 9.53978e-28 1.03312e-27 1 1 0 EIF2B5 8893 broad.mit.edu 37 3 183855689 183855689 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:183855689G>C ENST00000273783.3 + 4 632 c.510G>C c.(508-510)ttG>ttC p.L170F EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Missense_Mutation_p.L170F NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 170 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TTTATAGGTTGAGACGGAAGC 0.483000 23 54 0 0 1 0 0 NRSN1 140767 broad.mit.edu 37 6 24145795 24145795 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:24145795C>T ENST00000378491.4 + 4 510 c.209C>T c.(208-210)aCa>aTa p.T70I NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 70 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 ATCTCAGGTACAGTTTTTGTG 0.517000 28 144 0 0 1 0 0 ALX1 8092 broad.mit.edu 37 12 85694985 85694985 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:85694985C>T ENST00000316824.3 + 4 868 c.713C>T c.(712-714)tCa>tTa p.S238L NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 238 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) GTGGTTACTTCATGCATGTTA 0.413000 26 105 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82550305 82550305 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:82550305G>C ENST00000313010.3 - 7 1278 c.1084C>G c.(1084-1086)Cag>Gag p.Q362E PRCP_ENST00000393399.2_Missense_Mutation_p.Q383E|PRCP_ENST00000535099.1_Missense_Mutation_p.Q257E|PRCP_ENST00000525772.1_5'UTR NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 362 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 ATATTTACCTGATAGCTCCAA 0.398000 17 40 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19251237 19251237 + Missense_Mutation SNP T T G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:19251237T>G ENST00000527884.1 - 10 1889 c.1657A>C c.(1657-1659)Act>Cct p.T553P E2F8_ENST00000250024.4_Missense_Mutation_p.T553P|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 553 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTTGAGCCAGTAGCTTTAGAA 0.572000 30 69 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4117548 4117548 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:4117548G>C ENST00000262948.5 - 2 425 c.172C>G c.(172-174)Ctc>Gtc p.L58V MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 58 activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TTCTGGGTGAGAAAGGCTTCC 0.592000 31 53 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78321919 78321919 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:78321919G>A ENST00000582970.1 + 29 9927 c.9784G>A c.(9784-9786)Gct>Act p.A3262T RNF213_ENST00000508628.2_Missense_Mutation_p.A3311T|RNF213_ENST00000336301.6_Missense_Mutation_p.A1335T 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) GCTGAACTGCGCTACGCCCGA 0.622000 17 57 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95076684 95076684 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:95076684A>G ENST00000545558.1 - 7 2715 c.2223T>C c.(2221-2223)tcT>tcC p.S741S NOL8_ENST00000542053.1_Silent_p.S673S|NOL8_ENST00000535387.1_Silent_p.S741S|NOL8_ENST00000442668.2_Silent_p.S741S|NOL8_ENST00000358855.4_Silent_p.S673S Q76FK4 NOL8_HUMAN nucleolar protein 8 741 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 AATTACTAATAGAAAGTGAGA 0.443000 16 54 0 0 1 0 0 PDK3 5165 broad.mit.edu 37 X 24512899 24512899 + Silent SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chrX:24512899A>G ENST00000441463.2 + 2 147 c.147A>G c.(145-147)ctA>ctG p.L49L PDK3_ENST00000379162.4_Silent_p.L49L|PDK3_ENST00000493226.1_3'UTR NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 49 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 ATATGTTTCTACGAAAGGAAC 0.378000 17 14 0 0 1 0 0 TTI2 80185 broad.mit.edu 37 8 33369543 33369543 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:33369543C>T ENST00000431156.2 - 2 1207 c.589G>A c.(589-591)Gaa>Aaa p.E197K TTI2_ENST00000360742.5_Missense_Mutation_p.E197K|TTI2_ENST00000520636.1_Missense_Mutation_p.E197K NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 197 binding TTCTCATCTTCATTTTCTCCA 0.502000 52 64 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91423993 91423993 + Silent SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:91423993C>G ENST00000268171.3 + 14 1908 c.1629C>G c.(1627-1629)ccC>ccG p.P543P NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 543 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ATGAGGATCCCTCTGGCGAGT 0.572000 12 28 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99020532 99020532 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:99020532C>T ENST00000299157.4 - 3 683 c.310G>A c.(310-312)Gaa>Aaa p.E104K IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 104 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 AGGATGCTTTCAGTAGACTCA 0.368000 11 52 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49662566 49662566 + Missense_Mutation SNP C C T rs140421176 byFrequency TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:49662566C>T ENST00000296452.4 + 2 497 c.383C>T c.(382-384)aCg>aTg p.T128M NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 128 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCCGCAGGACGCTGCAGGTA 0.642000 5 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088890 9088890 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:9088890C>A ENST00000397910.4 - 1 3128 c.2925G>T c.(2923-2925)aaG>aaT p.K975N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 975 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 GTAACCCTGTCTTGAATCTGG 0.473000 109 129 5.58122e-63 6.10584e-63 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228412242 228412242 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:228412242C>T ENST00000570156.2 + 10 3086 c.3012C>T c.(3010-3012)tgC>tgT p.C1004C OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.C912C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.C912C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1004 Ig-like 10. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CACTGAGCTGCGAGGTGGCCC 0.627000 17 56 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82434932 82434932 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:82434932G>C ENST00000370728.1 + 17 3227 c.2582G>C c.(2581-2583)tGc>tCc p.C861S LPHN2_ENST00000370721.1_Missense_Mutation_p.C786S|LPHN2_ENST00000370730.1_Missense_Mutation_p.C861S|LPHN2_ENST00000370717.2_Missense_Mutation_p.C861S|LPHN2_ENST00000370715.1_Missense_Mutation_p.C848S|LPHN2_ENST00000359929.3_Missense_Mutation_p.C848S|LPHN2_ENST00000335786.5_Missense_Mutation_p.C861S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.C861S|LPHN2_ENST00000271029.4_Missense_Mutation_p.C861S|LPHN2_ENST00000370725.1_Missense_Mutation_p.C861S|LPHN2_ENST00000394879.1_Missense_Mutation_p.C848S|LPHN2_ENST00000370713.1_Missense_Mutation_p.C848S|LPHN2_ENST00000370723.1_Missense_Mutation_p.C848S|LPHN2_ENST00000319517.6_Missense_Mutation_p.C848S O95490 LPHN2_HUMAN latrophilin 2 861 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCCCTTGTTTGCCTGGCTATC 0.393000 35 76 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11735506 11735506 + Splice_Site SNP G G T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:11735506G>T ENST00000381486.2 + 12 2125 c.e12+1 GREB1_ENST00000234142.5_Splice_Site NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTCTGTCCAGGTAGGCTTGTC 0.552000 12 44 5.50884e-06 5.71594e-06 1 1 0 OR8B2 26595 broad.mit.edu 37 11 124252488 124252488 + Missense_Mutation SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:124252488A>T ENST00000375013.2 - 1 770 c.752T>A c.(751-753)tTt>tAt p.F251Y NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGACCCAAAAAACAGAGACAG 0.388000 32 41 0 0 1 0 0 TRBJ2-5 28624 broad.mit.edu 37 7 142494822 142494822 + RNA SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:142494822C>T ENST00000390417.1 + 0 20 CCCAGTACTTCGGGCCAGGCA 0.726000 14 21 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97213236 97213236 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:97213236G>A ENST00000357485.3 + 2 180 c.102G>A c.(100-102)caG>caA p.Q34Q ARID5A_ENST00000454558.2_5'UTR NM_212481.1 NP_997646.1 Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 34 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 ACGGAATCCAGAACCCCATCT 0.622000 9 32 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126371115 126371115 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr4:126371115C>G ENST00000394329.3 + 9 8957 c.8944C>G c.(8944-8946)Caa>Gaa p.Q2982E FAT4_ENST00000335110.5_Missense_Mutation_p.Q1280E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2982 Cadherin 28. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAATGCACCTCAATTTCTTAA 0.343000 12 22 0 0 1 0 0 PSORS1C1 170679 broad.mit.edu 37 6 31106554 31106554 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:31106554C>T ENST00000259881.9 + 5 454 c.165C>T c.(163-165)ttC>ttT p.F55F PSORS1C2_ENST00000259845.4_Intron|PSORS1C1_ENST00000547221.1_Silent_p.F7F|PSORS1C1_ENST00000481450.2_Intron NM_014068.2 NP_054787.2 Q9UIG5 PS1C1_HUMAN psoriasis susceptibility 1 candidate 1 55 kidney(1)|ovary(2)|prostate(1)|skin(1) 5 CAAACCATTTCTGGTGAGAGC 0.547000 116 75 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23453807 23453807 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:23453807G>A ENST00000307149.5 - 4 780 c.595C>T c.(595-597)Cag>Tag p.Q199* NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 199 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) CCTACAGCCTGAGAGGTGAAT 0.458000 24 136 0 0 1 0 0 PAXIP1 22976 broad.mit.edu 37 7 154767729 154767729 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:154767729C>T ENST00000404141.1 - 6 905 c.751G>A c.(751-753)Gat>Aat p.D251N PAXIP1_ENST00000397192.1_Missense_Mutation_p.D251N|PAXIP1_ENST00000473219.1_5'UTR Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 251 DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) TCTGAAGAATCATCAAACATT 0.478000 3 6 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73426110 73426110 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:73426110C>T ENST00000377106.1 - 7 919 c.565G>A c.(565-567)Ggt>Agt p.G189S TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.G189S|TRPM3_ENST00000360823.2_Missense_Mutation_p.G189S|TRPM3_ENST00000358082.3_Missense_Mutation_p.G189S|TRPM3_ENST00000423814.3_Missense_Mutation_p.G344S|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.G189S NM_020952.4|NM_206946.3 NP_066003.3|NP_996829.3 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 342 integral to membrane calcium channel activity p.G189C(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGGCAACTACCCCAAAATGAA 0.353000 3 9 0 0 1 0 0 RGR 5995 broad.mit.edu 37 10 86017692 86017692 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:86017692G>A ENST00000359452.4 + 6 724 c.686G>A c.(685-687)gGc>gAc p.G229D RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Intron NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 225 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 CTCGGCTGGGGCCCCTATGCC 0.532000 11 28 0 0 1 0 0 DHRS4L1 728635 broad.mit.edu 37 14 24505784 24505784 + RNA SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:24505784C>T ENST00000558293.1 + 0 123 NR_102693.1 CCGGGATGACCCGCCGGGACC 0.647000 14 5 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79813377 79813377 + Silent SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:79813377T>C ENST00000331483.4 - 3 660 c.438A>G c.(436-438)gcA>gcG p.A146A P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Intron|P4HB_ENST00000472244.1_5'UTR NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 146 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CCAAGGACTCTGCAGCTGCGC 0.587000 34 38 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32506042 32506042 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:32506042G>C ENST00000266088.4 + 15 2087 c.1837G>C c.(1837-1839)Gag>Cag p.E613Q SLC5A1_ENST00000543737.1_Missense_Mutation_p.E486Q NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 613 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TTGTGGGCTAGAGCAGCACGG 0.463000 13 47 0 0 1 0 0 SMPD3 55512 broad.mit.edu 37 16 68398693 68398693 + Missense_Mutation SNP C C T rs141206967 byFrequency TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:68398693C>T ENST00000219334.5 - 5 2119 c.1516G>A c.(1516-1518)Gtc>Atc p.V506I SMPD3_ENST00000568373.1_Missense_Mutation_p.V506I|SMPD3_ENST00000563226.1_Missense_Mutation_p.V506I|SMPD3_ENST00000566009.1_5'UTR NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 506 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CCACAGACGACGTCAAATGCC 0.597000 19 11 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44083216 44083216 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:44083216G>C ENST00000359947.4 + 24 4512 c.4172G>C c.(4171-4173)cGa>cCa p.R1391P PTPRF_ENST00000372414.3_Missense_Mutation_p.R1391P|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1382P|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1382P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R750P NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1391 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GACCACTCTCGAGTCATCCTT 0.552000 36 74 0 0 1 0 0 CD48 962 broad.mit.edu 37 1 160654693 160654693 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:160654693G>C ENST00000368045.3 - 2 408 c.369C>G c.(367-369)atC>atG p.I123M CD48_ENST00000368046.3_Missense_Mutation_p.I123M P09326 CD48_HUMAN CD48 molecule 123 Ig-like C2-type 1. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTTGCAGCTTGATCTTCCATT 0.532000 39 965 0 0 1 0 0 MEIS3 56917 broad.mit.edu 37 19 47910681 47910681 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:47910681G>C ENST00000331559.5 - 9 1391 c.950C>G c.(949-951)cCg>cGg p.P317R MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000441740.2_Missense_Mutation_p.P271R|MEIS3_ENST00000558555.1_Missense_Mutation_p.P288R|MEIS3_ENST00000559524.1_Missense_Mutation_p.P334R|MEIS3_ENST00000561293.1_Missense_Mutation_p.P334R|MEIS3_ENST00000561096.1_Missense_Mutation_p.P376R NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 288 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) CGAGGGGTACGGGTGCTGCAG 0.687000 38 35 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33586519 33586519 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr17:33586519G>C ENST00000299977.4 + 2 958 c.810G>C c.(808-810)caG>caC p.Q270H SLFN5_ENST00000592325.1_Missense_Mutation_p.Q270H|SLFN5_ENST00000542451.1_Missense_Mutation_p.Q270H NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 270 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TCTGCACACAGAGGCCTGAGA 0.433000 37 136 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59535800 59535800 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:59535800C>T ENST00000038176.3 - 9 748 c.536G>A c.(535-537)aGa>aAa p.R179K NSMAF_ENST00000427130.2_Missense_Mutation_p.R210K|NSMAF_ENST00000519858.1_5'UTR NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 179 GRAM. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) AAATGATGTTCTAGCTAAACG 0.294000 5 24 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68609729 68609729 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:68609729G>A ENST00000234313.7 + 4 615 c.436G>A c.(436-438)Gag>Aag p.E146K NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 146 DEP. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) ACTGAATCTAGAGAAGGACAA 0.393000 31 149 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19693633 19693633 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:19693633G>C ENST00000438132.3 + 28 2763 c.2715G>C c.(2713-2715)gaG>gaC p.E905D C16orf62_ENST00000448695.1_Missense_Mutation_p.E666D|C16orf62_ENST00000417362.2_Missense_Mutation_p.E723D|C16orf62_ENST00000543152.1_Missense_Mutation_p.E565D|C16orf62_ENST00000542263.1_Missense_Mutation_p.E812D|C16orf62_ENST00000251143.5_Missense_Mutation_p.E816D NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 816 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 ACAGCGATGAGAAAATCCGCA 0.537000 40 154 0 0 1 0 0 CBY1 25776 broad.mit.edu 37 22 39064089 39064089 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:39064089G>A ENST00000216029.3 + 2 164 c.30G>A c.(28-30)ccG>ccA p.P10P RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA NM_015373.3 NP_056188.1 Q9Y3M2 CBY1_HUMAN chibby homolog 1 (Drosophila) 10 cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization nuclear speck|trans-Golgi network beta-catenin binding|identical protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 Melanoma(58;0.04) CGTTCAGTCCGAAGAAGACAC 0.537000 25 52 0 0 1 0 0 MINPP1 9562 broad.mit.edu 37 10 89265221 89265221 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:89265221C>T ENST00000371996.4 + 1 590 c.549C>T c.(547-549)tcC>tcT p.S183S MINPP1_ENST00000371994.4_Silent_p.S183S NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 183 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) TCACCAGTTCCAAGCACCGCT 0.682000 OREG0020348 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 17 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152579932 152579932 + Silent SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:152579932C>G ENST00000427231.2 - 9 883 c.681G>C c.(679-681)ctG>ctC p.L227L NEB_ENST00000604864.1_Silent_p.L227L|NEB_ENST00000603639.1_Silent_p.L227L|NEB_ENST00000409198.1_Silent_p.L227L|NEB_ENST00000172853.10_Silent_p.L227L|NEB_ENST00000397345.3_Silent_p.L227L NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 227 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAACTCTCCTCAGTTCCGGGC 0.433000 8 8 0 0 1 0 0 ARG2 384 broad.mit.edu 37 14 68117488 68117488 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr14:68117488G>A ENST00000261783.3 + 8 1096 c.916G>A c.(916-918)Gaa>Aaa p.E306K VTI1B_ENST00000554659.1_3'UTR NM_001172.3 NP_001163.1 P78540 ARGI2_HUMAN arginase 2 306 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1) 11 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) CACCTCAGAGGAAGAGGCGAA 0.478000 48 17 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34554657 34554657 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:34554657G>A ENST00000373381.4 - 2 501 c.325C>T c.(325-327)Cag>Tag p.Q109* NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 69 CUB 1. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCAAAGGACTGGAACACAAGC 0.562000 18 31 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200574446 200574446 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:200574446G>A ENST00000367350.4 - 8 2149 c.1711C>T c.(1711-1713)Cat>Tat p.H571Y NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 571 Kinesin-motor. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 AAAACTGAATGAGATCGGGAA 0.398000 6 51 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 617745 617745 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:617745G>A ENST00000230449.4 - 6 762 c.627C>T c.(625-627)ctC>ctT p.L209L EXOC2_ENST00000448181.3_Intron NM_018303.5 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 209 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) AGAATGTACTGAGACCGCCTT 0.537000 14 69 0 0 1 0 0 METTL24 728464 broad.mit.edu 37 6 110620123 110620123 + Splice_Site SNP A A T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:110620123A>T ENST00000338882.4 - 4 786 c.e4+1 NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 extracellular region GAAAAACCTCACCTTGTGATG 0.383000 20 31 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26168328 26168328 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:26168328G>A ENST00000335473.7 + 7 1970 c.1720G>A c.(1720-1722)Gag>Aag p.E574K MYO18B_ENST00000536101.1_Missense_Mutation_p.E574K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E574K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 574 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGACCAGGTCGAGGACCTGGC 0.622000 30 53 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57073702 57073702 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr16:57073702C>T ENST00000436936.1 + 16 3036 c.2811C>T c.(2809-2811)caC>caT p.H937H NLRC5_ENST00000262510.6_Silent_p.H937H|NLRC5_ENST00000308149.7_Silent_p.H937H|NLRC5_ENST00000539144.1_Silent_p.H937H Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 937 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GCCTGCAGCACAAAACTGTGA 0.527000 72 45 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202899764 202899764 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:202899764G>A ENST00000286201.1 + 1 455 c.394G>A c.(394-396)Gag>Aag p.E132K NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 132 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 CCAGGGCTGCGAGGCGCTCAT 0.657000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 58 0 0 1 0 0 UCK1 83549 broad.mit.edu 37 9 134405928 134405928 + Silent SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr9:134405928C>T ENST00000372215.4 - 2 306 c.213G>A c.(211-213)ctG>ctA p.L71L UCK1_ENST00000372210.3_Silent_p.L62L|UCK1_ENST00000372211.3_Silent_p.L76L|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Silent_p.L71L NM_001261450.1|NM_001261451.1|NM_031432.2 NP_001248379.1|NP_001248380.1|NP_113620.1 Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 71 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) GCTCTGCCGTCAGGACCTTGT 0.562000 22 111 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016710 23016710 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:23016710C>A ENST00000255008.3 + 1 654 c.590C>A c.(589-591)gCc>gAc p.A197D RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 197 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CAGGCCGTGGCCTGCAACCTG 0.657000 80 47 2.17741e-50 2.37939e-50 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151845834 151845834 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr7:151845834T>C ENST00000355193.2 - 53 13567 c.13349A>G c.(13348-13350)gAt>gGt p.D4450G KMT2C_ENST00000262189.6_Missense_Mutation_p.D4393G lysine (K)-specific methyltransferase 2C GGGCACAGGATCAGGTTTAAG 0.418000 18 48 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156144962 156144962 + Missense_Mutation SNP T T C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:156144962T>C ENST00000368285.3 + 13 1787 c.1520T>C c.(1519-1521)gTc>gCc p.V507A SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.V375A|SEMA4A_ENST00000355014.2_Missense_Mutation_p.V507A|SEMA4A_ENST00000368284.1_Missense_Mutation_p.V375A|SEMA4A_ENST00000368282.1_Missense_Mutation_p.V507A NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 507 PSI. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) GTGGACTGTGTCCTTGCCCGG 0.612000 158 194 0 0 1 0 0 MUT 4594 broad.mit.edu 37 6 49425571 49425571 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:49425571G>A ENST00000274813.3 - 3 713 c.586C>T c.(586-588)Ctt>Ttt p.L196F NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 196 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAATTTGCAAGAACTGGAATA 0.338000 12 29 0 0 1 0 0 UBIAD1 29914 broad.mit.edu 37 1 11333720 11333720 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:11333720G>A ENST00000376810.5 + 1 458 c.132G>A c.(130-132)caG>caA p.Q44Q UBIAD1_ENST00000376804.2_Silent_p.Q44Q NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 44 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) CCTGGAGGCAGAAGTGTGCCT 0.632000 10 48 0 0 1 0 0 AK2 204 broad.mit.edu 37 1 33480153 33480153 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:33480153G>A ENST00000480134.1 - 4 421 c.373C>T c.(373-375)Caa>Taa p.Q125* AK2_ENST00000548033.1_Silent_p.F114F|AK2_ENST00000354858.6_Silent_p.F156F|AK2_ENST00000467905.1_Silent_p.F156F|AK2_ENST00000373449.2_Silent_p.F156F|RP1-117O3.2_ENST00000427524.1_RNA P54819 KAD2_HUMAN adenylate kinase 2 0 nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space adenylate kinase activity|ATP binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TTGGAGGGTTGAACTCCTCGT 0.438000 53 150 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32913668 32913668 + Missense_Mutation SNP G G A rs80359491 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:32913668G>A ENST00000544455.1 + 11 5403 c.5176G>A c.(5176-5178)Gaa>Aaa p.E1726K BRCA2_ENST00000380152.3_Missense_Mutation_p.E1726K NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1726 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TACTATAGCTGAAAATGACAA 0.303000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 8 22 0 0 1 0 0 SPDYC 387778 broad.mit.edu 37 11 64939750 64939750 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:64939750C>T ENST00000377185.2 + 4 374 c.292C>T c.(292-294)Cgc>Tgc p.R98C NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 98 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 CTACTTCCAGCGCGCCCACCT 0.592000 33 59 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30638837 30638837 + Missense_Mutation SNP G G A rs140342281 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:30638837G>A ENST00000376442.3 - 2 617 c.422C>T c.(421-423)tCt>tTt p.S141F NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 141 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CCCTTTCTCAGAAGCCTCTTC 0.507000 144 103 0 0 1 0 0 CYHR1 50626 broad.mit.edu 37 8 145689768 145689768 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:145689768G>A ENST00000403000.2 - 2 908 c.321C>T c.(319-321)ctC>ctT p.L107L CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000424149.2_Silent_p.L107L|CYHR1_ENST00000438911.2_Intron|CYHR1_ENST00000306145.5_Silent_p.L107L NM_032687.3 NP_116076.1 Q6ZMK1 CYHR1_HUMAN cysteine/histidine-rich 1 103 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) CCTCAGGGCCGAGGTGGCCGC 0.617000 23 40 0 0 1 0 0 MTFR1L 56181 broad.mit.edu 37 1 26158516 26158516 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:26158516G>A ENST00000374301.3 + 7 1186 c.878G>A c.(877-879)tGa>tAa p.*293* MTFR1L_ENST00000524618.1_Silent_p.*196*|MTFR1L_ENST00000374307.5_Silent_p.*281*|AUNIP_ENST00000538789.1_3'UTR|MTFR1L_ENST00000374300.3_Silent_p.*293*|MTFR1L_ENST00000374303.2_Silent_p.*293*|MTFR1L_ENST00000474295.1_3'UTR|MTFR1L_ENST00000466284.1_3'UTR|MTFR1L_ENST00000469815.1_3'UTR|RP1-317E23.7_ENST00000606617.1_RNA NM_019557.5 NP_062457.3 mitochondrial fission regulator 1-like AAAGGAAATTGACAACCCTCA 0.453000 19 31 0 0 1 0 0 SNX17 9784 broad.mit.edu 37 2 27598981 27598981 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr2:27598981G>A ENST00000233575.2 + 12 1335 c.1113G>A c.(1111-1113)atG>atA p.M371I SNX17_ENST00000542478.1_Missense_Mutation_p.M157I|SNX17_ENST00000543024.1_Missense_Mutation_p.M157I|SNX17_ENST00000537606.1_Missense_Mutation_p.M346I NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 371 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGCTATCATGATGAGCATCT 0.507000 31 112 0 0 1 0 0 KCTD17 79734 broad.mit.edu 37 22 37458602 37458602 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:37458602G>A ENST00000403888.3 + 9 935 c.934G>A c.(934-936)Gat>Aat p.D312N KCTD17_ENST00000402077.3_Missense_Mutation_p.D288N NM_001282684.1 NP_001269613.1 Q8N5Z5 KCD17_HUMAN potassium channel tetramerization domain containing 17 312 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1) 5 TGAGGCCCCAGATCACCTCCA 0.602000 3 13 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113928198 113928198 + Missense_Mutation SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:113928198C>A ENST00000348367.4 - 11 1176 c.979G>T c.(979-981)Gct>Tct p.A327S GPAM_ENST00000423155.1_Missense_Mutation_p.A327S|GPAM_ENST00000369425.1_Missense_Mutation_p.A327S Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 327 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) CCTGCCCGAGCACAAGAGGTT 0.428000 19 50 6.49762e-13 6.92793e-13 1 1 0 RB1 5925 broad.mit.edu 37 13 48947629 48947629 + Splice_Site SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr13:48947629G>A ENST00000267163.4 + 12 1353 c.e12+1 NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(23)|p.0?(15) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTATTTTAACGTAAGCCATAT 0.279000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 14 42 0 0 1 0 0 SRPRB 58477 broad.mit.edu 37 3 133525481 133525481 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:133525481G>A ENST00000466490.2 + 3 468 c.183G>A c.(181-183)agG>agA p.R61R NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 61 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 GGAGCAGAAGGAGCAGTCAGA 0.448000 5 68 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34254244 34254253 + Frame_Shift_Del DEL AGTCTGGAAG AGTCTGGAAG - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:34254244_34254253delAGTCTGGAAG ENST00000373381.4 - 12 1787_1796 c.1611_1620delCTTCCAGACT c.(1609-1620)ctcttccagactfs p.LFQT537fs CSMD2_ENST00000338325.1_Frame_Shift_Del_p.LFQT145fs NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 497 Sushi 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACTGCCATCAGTCTGGAAGAGGAGCCACA 0.519 12 70 --- --- --- --- NFASC 23114 broad.mit.edu 37 1 204948193 204948194 + Frame_Shift_Del DEL CA CA - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:204948193_204948194delCA ENST00000367172.4 + 18 2302_2303 c.1974_1975delCA c.(1972-1977)atcacafs p.T659fs NFASC_ENST00000367171.4_Frame_Shift_Del_p.T644fs|NFASC_ENST00000338586.6_Frame_Shift_Del_p.T659fs|NFASC_ENST00000401399.1_Frame_Shift_Del_p.T659fs|NFASC_ENST00000404907.1_Frame_Shift_Del_p.T655fs|NFASC_ENST00000339876.6_Frame_Shift_Del_p.T659fs|NFASC_ENST00000513543.1_Frame_Shift_Del_p.T655fs|NFASC_ENST00000404076.1_Frame_Shift_Del_p.T638fs|NFASC_ENST00000367170.4_Frame_Shift_Del_p.T659fs|NFASC_ENST00000539706.1_Frame_Shift_Del_p.T655fs|NFASC_ENST00000367169.4_Frame_Shift_Del_p.T659fs|NFASC_ENST00000338515.6_Frame_Shift_Del_p.T659fs|NFASC_ENST00000360049.4_Frame_Shift_Del_p.T655fs O94856 NFASC_HUMAN neurofascin 659 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACAGCCCCATCACAGGTAGCTC 0.644 2 4 --- --- --- --- USH2A 7399 broad.mit.edu 37 1 215848634 215848634 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:215848634delC ENST00000366943.2 - 63 13005 c.12619delG c.(12619-12621)gccfs p.A4207fs USH2A_ENST00000307340.3_Frame_Shift_Del_p.A4207fs O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4207 Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCTCGTCGGCCTGGATTGTC 0.398 HNSCC(13;0.011) 20 97 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228465508 228465512 + Frame_Shift_Del DEL ATCCA ATCCA - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr1:228465508_228465512delATCCA ENST00000570156.2 + 30 8169_8173 c.8095_8099delATCCA c.(8095-8100)atccaafs p.IQ2699fs OBSCN_ENST00000284548.11_Frame_Shift_Del_p.IQ2270fs|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Frame_Shift_Del_p.IQ1117fs|OBSCN_ENST00000422127.1_Frame_Shift_Del_p.IQ2270fs|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1696 Ig-like 26. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGCAGGAGAGATCCAATTTGTAGCC 0.610 25 57 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:53529193_53529195delGAT ENST00000288139.4 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 7 114 --- --- --- --- DENND6A 201627 broad.mit.edu 37 3 57646498 57646498 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr3:57646498delC ENST00000311128.5 - 7 758 c.688delG c.(688-690)gtgfs p.V231fs NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A TTCATTACCACCCCCATGATT 0.368 15 52 --- --- --- --- CEP72 55722 broad.mit.edu 37 5 640649 640651 + In_Frame_Del DEL AGC AGC - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:640649_640651delAGC ENST00000264935.5 + 9 1559_1561 c.1469_1471delAGC c.(1468-1473)gagcag>gag p.Q494del CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 494 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) CGCCTTGCTGAGCAGCAGCAGCA 0.621 7 901 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)gagggg>ggg p.E228del IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 10 400 --- --- --- --- LINC00518 221718 broad.mit.edu 37 6 10430699 10430701 + RNA DEL TTT TTT - rs79230388 TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr6:10430699_10430701delTTT ENST00000496285.1 - 0 489 NR_027793.1 CTCTGACTAGttttttttttttt 0.448 3 4 --- --- --- --- ERLIN2 11160 broad.mit.edu 37 8 37595525 37595528 + Frame_Shift_Del DEL GGAC GGAC - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr8:37595525_37595528delGGAC ENST00000276461.5 + 2 152_155 c.85_88delGGAC c.(85-90)ggacatfs p.GH29fs ERLIN2_ENST00000523107.1_Frame_Shift_Del_p.GH29fs|ERLIN2_ENST00000335171.6_Frame_Shift_Del_p.GH29fs|ERLIN2_ENST00000519638.1_Frame_Shift_Del_p.GH29fs|ERLIN2_ENST00000518586.1_Frame_Shift_Del_p.GH29fs|ERLIN2_ENST00000397228.2_Frame_Shift_Del_p.GH29fs|ERLIN2_ENST00000523887.1_Frame_Shift_Del_p.GH29fs NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 29 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GATAGAAGAGGGACATATTGGGGT 0.480 20 34 --- --- --- --- VIM 7431 broad.mit.edu 37 10 17277291 17277296 + In_Frame_Del DEL CGTCAC CGTCAC - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr10:17277291_17277296delCGTCAC ENST00000544301.1 + 7 1545_1550 c.1132_1137delCGTCAC c.(1132-1137)cgtcacdel p.RH378del VIM_ENST00000224237.5_In_Frame_Del_p.RH378del NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 378 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGAAATGGCTCGTCACCTTCGTGAAT 0.495 14 97 --- --- --- --- MRVI1 10335 broad.mit.edu 37 11 10673582 10673582 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:10673582delG ENST00000423302.2 - 2 364 c.215delC c.(214-216)cctfs p.P72fs MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000531107.1_Frame_Shift_Del_p.P63fs|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000541483.1_Frame_Shift_Del_p.P72fs|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000436272.1_Frame_Shift_Del_p.P63fs|MRVI1_ENST00000421747.1_Frame_Shift_Del_p.P63fs NM_001206880.1|NM_130385.3 NP_001193809.1|NP_569056.4 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 63 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TTGGCCGGCAGGGCTCTGGGC 0.692 2 4 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 20117311 20117312 + Splice_Site DEL AA AA - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr11:20117311_20117312delAA ENST00000396085.1 + 31 6380_6381 c.6019_6020delAA c.(6019-6021)aaa>a p.K2007fs NAV2_ENST00000349880.4_Splice_Site_p.K2004fs|NAV2_ENST00000533917.1_Splice_Site_p.K1068fs|NAV2_ENST00000360655.4_Splice_Site_p.K1940fs|NAV2_ENST00000527559.2_Splice_Site_p.K1992fs|NAV2_ENST00000396087.3_Splice_Site_p.K2063fs|NAV2_ENST00000311043.8_Splice_Site_p.K1068fs|NAV2_ENST00000540292.1_Splice_Site_p.K1994fs NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2063 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ACGGCTGTTCAAAGTAAGTGTT 0.500 43 102 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78444867 78444873 + Frame_Shift_Del DEL GATATAT GATATAT - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr12:78444867_78444873delGATATAT ENST00000397909.2 + 11 2629_2635 c.2456_2462delGATATAT c.(2455-2463)ggatatatgfs p.GYM819fs NAV3_ENST00000536525.2_Frame_Shift_Del_p.GYM819fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.GYM819fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.GYM819fs Q8IVL0 NAV3_HUMAN neuron navigator 3 819 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GATGTGGGTGGATATATGAGTGATGGT 0.493 HNSCC(70;0.22) 20 35 --- --- --- --- GOLGA8DP 100132979 broad.mit.edu 37 15 22709885 22709885 + RNA DEL G G - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:22709885delG ENST00000314246.8 - 0 1069 TATCTAATGTGGGGGGGGCTG 0.537 3 4 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93498666 93498676 + Frame_Shift_Del DEL AATGGATTCAT AATGGATTCAT - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr15:93498666_93498676delAATGGATTCAT ENST00000394196.4 + 15 2801_2811 c.1733_1743delAATGGATTCAT c.(1732-1743)gaatggattcatfs p.EWIH578fs CHD2_ENST00000557381.1_Frame_Shift_Del_p.EWIH578fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 578 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding p.W579R(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CGGGAATATGAATGGATTCATTCCCAAACCA 0.280 7 11 --- --- --- --- ZNF546 339327 broad.mit.edu 37 19 40520001 40520002 + Frame_Shift_Ins INS - - T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr19:40520001_40520002insT ENST00000347077.4 + 7 1040_1041 c.824_825insT c.(823-828)tgtaaafs p.K276fs ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Frame_Shift_Ins_p.K250fs NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CCCTATGAATGTAAAGAATGTG 0.436 18 43 --- --- --- --- VAPB 9217 broad.mit.edu 37 20 57019274 57019274 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr20:57019274delG ENST00000475243.1 + 6 1053 c.715delG c.(715-717)gggfs p.G239fs VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_3'UTR NM_004738.4 NP_004729.1 O95292 VAPB_HUMAN VAMP (vesicle-associated membrane protein)-associated protein B and C 239 cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(2)|lung(3)|prostate(1) 6 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) TGTAATTATTGGGAAGATTGC 0.438 29 87 --- --- --- --- CABIN1 23523 broad.mit.edu 37 22 24466884 24466884 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33dad043-e9f3-4e53-9c31-498735b4d9ef 07835d12-d051-4a4a-8ad4-08277ccc141e g.chr22:24466884delA ENST00000398319.2 + 17 2751 c.2366delA c.(2365-2367)caafs p.Q789fs CABIN1_ENST00000263119.5_Frame_Shift_Del_p.Q789fs|CABIN1_ENST00000405822.2_Frame_Shift_Del_p.Q739fs NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 789 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ACAGTGACCCAACTGCTGATG 0.587 15 30 --- --- --- ---