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 WDR6 11180 broad.mit.edu 37 3 49050828 49050828 + Missense_Mutation SNP A A G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr3:49050828A>G ENST00000395474.3 + 2 2231 c.1951A>G c.(1951-1953)Ata>Gta p.I651V WDR6_ENST00000415265.2_Missense_Mutation_p.I69V|WDR6_ENST00000448293.1_Missense_Mutation_p.I570V NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 621 V -> I (in Ref. 2; BAG58164). cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TGGGCTCCGTATAGTGCCCGA 0.557000 27 56 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 76995317 76995317 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr15:76995317C>T ENST00000538941.2 - 19 2475 c.1536G>A c.(1534-1536)atG>atA p.M512I SCAPER_ENST00000324767.7_Missense_Mutation_p.M758I|SCAPER_ENST00000563290.1_Missense_Mutation_p.M758I NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 757 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 CAATCTGTTCCATGTGCCTTC 0.353000 26 65 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85529723 85529723 + Missense_Mutation SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr2:85529723G>C ENST00000282111.3 + 5 917 c.642G>C c.(640-642)gaG>gaC p.E214D NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 214 Pro-rich. chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 TCTCCCCAGAGATCGATCCAA 0.587000 11 169 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3647621 3647621 + Missense_Mutation SNP C C T rs145194745 TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr16:3647621C>T ENST00000294008.3 - 7 2082 c.1442G>A c.(1441-1443)cGa>cAa p.R481Q NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 481 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CTCTATCTGTCGGCCTGTGGT 0.517000 Direct reversal of damage 27 126 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43098036 43098036 + Silent SNP G G A rs146608676 by1000genomes TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr19:43098036G>A ENST00000244336.5 - 2 182 c.81C>T c.(79-81)ttC>ttT p.F27F CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 27 immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) GCGGGTTCCAGAAGGTGAAAA 0.498000 24 169 0 0 1 0 0 FHL2 2274 broad.mit.edu 37 2 105984158 105984158 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr2:105984158C>T ENST00000409177.1 - 4 839 c.718G>A c.(718-720)Gag>Aag p.E240K FHL2_ENST00000393353.3_Missense_Mutation_p.E124K|FHL2_ENST00000408995.1_Missense_Mutation_p.E124K|FHL2_ENST00000358129.4_Missense_Mutation_p.E124K|FHL2_ENST00000336660.5_Missense_Mutation_p.M65I|FHL2_ENST00000393352.3_Missense_Mutation_p.E124K|FHL2_ENST00000344213.4_Missense_Mutation_p.E234K|FHL2_ENST00000409807.1_Missense_Mutation_p.E124K|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000322142.8_Missense_Mutation_p.E124K Q14192 FHL2_HUMAN four and a half LIM domains 2 124 LIM zinc-binding 4. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 AAGCAGGTCTCATGCCAGCTG 0.522000 31 139 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74057636 74057636 + Missense_Mutation SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr17:74057636G>A ENST00000307877.2 - 5 742 c.581C>T c.(580-582)tCa>tTa p.S194L SRP68_ENST00000539137.1_Missense_Mutation_p.S156L|SRP68_ENST00000355113.5_Missense_Mutation_p.S93L NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 194 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 TAGCATTCCTGAGAGGTAAGC 0.438000 6 41 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91985807 91985807 + Missense_Mutation SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:91985807G>C ENST00000428239.1 + 11 1560 c.1301G>C c.(1300-1302)aGa>aCa p.R434T CDC7_ENST00000234626.6_Missense_Mutation_p.R434T|CDC7_ENST00000430031.2_Missense_Mutation_p.R406T NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 434 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) AGGGGATCCAGAGAAACTATC 0.328000 6 52 0 0 1 0 0 LHFPL5 222662 broad.mit.edu 37 6 35782404 35782404 + Missense_Mutation SNP C C T rs104893976 TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr6:35782404C>T ENST00000360215.1 + 2 871 c.494C>T c.(493-495)aCg>aTg p.T165M LHFPL5_ENST00000373853.1_Missense_Mutation_p.T165M|LHFPL5_ENST00000496656.1_3'UTR NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 165 T -> M (in DFNB67). integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 GGGGAGCAGACGGGCAAGTAC 0.627000 37 70 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 11 61 0 0 1 0 0 RNF113A 7737 broad.mit.edu 37 X 119005506 119005506 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chrX:119005506C>T ENST00000371442.2 - 1 285 c.71G>A c.(70-72)cGg>cAg p.R24Q NDUFA1_ENST00000371437.4_5'UTR NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 24 nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 AGCCCCTTTCCGCCCAGGCTT 0.602000 17 224 0 0 1 0 0 NPY4R 0 broad.mit.edu 37 10 47087440 47087440 + Silent SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr10:47087440C>G ENST00000374312.1 + 3 1076 c.657C>G c.(655-657)ctC>ctG p.L219L NPY4R_ENST00000395716.1_Silent_p.L219L NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CCTTCCTGCTCCTCTTCCAGT 0.602000 13 305 0 0 1 0 0 THOC6 79228 broad.mit.edu 37 16 3076528 3076528 + Silent SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr16:3076528C>T ENST00000326266.8 + 7 719 c.423C>T c.(421-423)ctC>ctT p.L141L THOC6_ENST00000575576.1_Silent_p.L117L|THOC6_ENST00000574549.1_Silent_p.L117L|THOC6_ENST00000253952.9_Silent_p.L141L NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 141 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 AGAATTCCCTCATCCTGGCTG 0.527000 5 32 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158592868 158592868 + Missense_Mutation SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:158592868G>A ENST00000368148.3 - 43 6205 c.6025C>T c.(6025-6027)Cgt>Tgt p.R2009C SPTA1_ENST00000368147.3_Missense_Mutation_p.R2006C|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2009 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) GCGGCATAACGCTCTTCAATG 0.502000 172 509 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242396303 242396303 + Missense_Mutation SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr2:242396303G>A ENST00000264042.3 + 14 1723 c.1553G>A c.(1552-1554)gGa>gAa p.G518E FARP2_ENST00000545004.1_Missense_Mutation_p.G518E|FARP2_ENST00000373287.4_Missense_Mutation_p.G518E NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 518 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GATGCTGGCGGAGCCGGGATG 0.622000 10 67 0 0 1 0 0 APPL2 55198 broad.mit.edu 37 12 105591668 105591668 + Silent SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr12:105591668G>A ENST00000258530.3 - 11 1152 c.927C>T c.(925-927)ctC>ctT p.L309L APPL2_ENST00000551662.1_Silent_p.L315L|APPL2_ENST00000549573.1_Intron|APPL2_ENST00000539978.2_Silent_p.L266L NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 309 PH.|Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GCTGACACATGAGATTCCCGC 0.547000 8 60 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41081411 41081411 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr19:41081411C>G ENST00000352632.3 + 36 7717 c.7631C>G c.(7630-7632)tCc>tGc p.S2544C SPTBN4_ENST00000598249.1_Missense_Mutation_p.S2544C|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Missense_Mutation_p.S1287C Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2544 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) ACTACTTCATCCACAGATGAG 0.637000 6 39 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58621113 58621113 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr16:58621113C>G ENST00000317147.5 - 6 757 c.425G>C c.(424-426)aGa>aCa p.R142T CNOT1_ENST00000569240.1_Missense_Mutation_p.R142T|CNOT1_ENST00000441024.2_Missense_Mutation_p.R142T NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 142 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ACCGAAACCTCTAAGATCTGA 0.358000 9 54 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30339475 30339475 + Silent SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr21:30339475G>C ENST00000361371.4 - 10 1488 c.1338C>G c.(1336-1338)ctC>ctG p.L446L LTN1_ENST00000389194.2_Silent_p.L492L|LTN1_ENST00000389195.2_Silent_p.L492L NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 446 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CTGGGTCTTTGAGAACTGCAT 0.388000 8 62 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8381712 8381712 + Nonsense_Mutation SNP C C A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr17:8381712C>A ENST00000360416.3 - 41 5788 c.5650G>T c.(5650-5652)Gaa>Taa p.E1884* MYH10_ENST00000396239.1_Nonsense_Mutation_p.E1874*|NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000269243.4_Nonsense_Mutation_p.E1853*|MYH10_ENST00000379980.4_Nonsense_Mutation_p.E1869* NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1853 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 ATGAAGATTTCTTTCAGCTTC 0.493000 14 108 7.93312e-07 8.40323e-07 1 1 0 DMD 1756 broad.mit.edu 37 X 31792217 31792217 + Nonsense_Mutation SNP C C A rs128626253 TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chrX:31792217C>A ENST00000357033.4 - 51 7608 c.7402G>T c.(7402-7404)Gag>Tag p.E2468* DMD_ENST00000359836.1_Nonsense_Mutation_p.E8*|DMD_ENST00000378707.3_Nonsense_Mutation_p.E8*|DMD_ENST00000474231.1_Nonsense_Mutation_p.E8*|DMD_ENST00000541735.1_Nonsense_Mutation_p.E8*|DMD_ENST00000343523.2_Nonsense_Mutation_p.E8*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2464* NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2468 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCAGGTACCTCCAACATCAAG 0.458000 9 87 1.12685e-05 1.18485e-05 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121680999 121680999 + Missense_Mutation SNP C C T rs142748552 TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr7:121680999C>T ENST00000393386.2 + 21 6178 c.5767C>T c.(5767-5769)Cgc>Tgc p.R1923C PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R1056C NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1923 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CTATGCCAAGCGCCATGCAGT 0.512000 12 86 0 0 1 0 0 C3orf62 375341 broad.mit.edu 37 3 49313987 49313987 + Missense_Mutation SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr3:49313987G>C ENST00000343010.3 - 1 1355 c.319C>G c.(319-321)Ctg>Gtg p.L107V NM_198562.2 NP_940964.1 Q6ZUJ4 CC062_HUMAN chromosome 3 open reading frame 62 107 breast(1)|kidney(1)|large_intestine(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGGGGCACAGAGCATGTGGT 0.498000 38 77 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98232910 98232910 + Missense_Mutation SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr5:98232910G>A ENST00000284049.3 - 10 1629 c.1480C>T c.(1480-1482)Cat>Tat p.H494Y NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 494 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) CACCAAGAATGAGCAAGCCAA 0.348000 33 56 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145537478 145537478 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:145537478C>G ENST00000369304.3 + 20 2663 c.2488C>G c.(2488-2490)Ctg>Gtg p.L830V ITGA10_ENST00000539363.1_Missense_Mutation_p.L687V|ITGA10_ENST00000538811.1_Missense_Mutation_p.L699V NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 830 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATCTACAACTCTGGAGAACAG 0.522000 41 450 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145365372 145365372 + Missense_Mutation SNP C C G rs4126496 TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:145365372C>G ENST00000342960.5 + 80 10032 c.9997C>G c.(9997-9999)Ctt>Gtt p.L3333V NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3333 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) TTCAGGTTGTCTTGAACTGTG 0.488000 6 118 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29203482 29203482 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr17:29203482C>G ENST00000321990.4 + 15 4076 c.3698C>G c.(3697-3699)cCt>cGt p.P1233R NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1233 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) CGAGCACTTCCTCCCAAAACC 0.353000 27 53 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10466364 10466364 + Silent SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr8:10466364C>G ENST00000382483.3 - 4 5467 c.5244G>C c.(5242-5244)ggG>ggC p.G1748G NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1748 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GTCTCTGGCTCCCCTCGCCAT 0.622000 38 239 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155931629 155931629 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:155931629C>T ENST00000368316.1 - 15 1677 c.1207G>A c.(1207-1209)Gag>Aag p.E403K ARHGEF2_ENST00000368315.3_Missense_Mutation_p.E432K|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E430K|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.E431K|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E403K Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 431 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding p.E403*(1) breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TAAATACCCTCGTCCACATTG 0.632000 10 168 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056240 26056240 + Silent SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr6:26056240C>T ENST00000343677.2 - 1 459 c.417G>A c.(415-417)aaG>aaA p.K139K NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 139 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 CAGCCGCCTTCTTGGGCTTCT 0.567000 24 172 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50285331 50285331 + Silent SNP G G T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr10:50285331G>T ENST00000332853.3 - 4 590 c.567C>A c.(565-567)atC>atA p.I189I NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 189 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GAATGCTGAGGATCCCCACGC 0.527000 7 69 0.000442599 0.000458636 1 1 0 PCDHB5 0 broad.mit.edu 37 5 140516600 140516600 + Silent SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr5:140516600C>T ENST00000231134.5 + 1 1801 c.1584C>T c.(1582-1584)ttC>ttT p.F528F NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 528 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) CGTTCGAGTTCCGCGTGGGAG 0.687000 48 158 0 0 1 0 0 ABCD4 5826 broad.mit.edu 37 14 74757084 74757084 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr14:74757084C>T ENST00000356924.4 - 12 1380 c.1237G>A c.(1237-1239)Gag>Aag p.E413K ABCD4_ENST00000298816.7_Missense_Mutation_p.E309K|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_5'UTR NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 413 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) CTCTGTCCCTCGGAGATCTTT 0.592000 OREG0022800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 211 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727140 69727140 + Nonsense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr16:69727140C>T ENST00000349945.1 + 14 4682 c.3130C>T c.(3130-3132)Caa>Taa p.Q1044* NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q1137*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q1138*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q1044*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.Q1120*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q1044* NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1120 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q1044K(1)|p.Q1138K(1) 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 GTTTCACTCTCAAAGTACCAT 0.428000 8 176 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 27 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67593325 67593325 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr5:67593325C>G ENST00000521381.1 + 16 2687 c.2071C>G c.(2071-2073)Ctg>Gtg p.L691V PIK3R1_ENST00000320694.8_Missense_Mutation_p.L391V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.L421V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.L699V|PIK3R1_ENST00000523872.1_Missense_Mutation_p.L328V|PIK3R1_ENST00000521657.1_Missense_Mutation_p.L691V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.L691V NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 691 SH2 2. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GTACAGCTCTCTGAAAGAACT 0.493000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 36 227 0 0 1 0 0 TMEM171 134285 broad.mit.edu 37 5 72427547 72427547 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr5:72427547C>T ENST00000454765.2 + 4 1438 c.965C>T c.(964-966)tCc>tTc p.S322F TMEM171_ENST00000287773.5_Missense_Mutation_p.S321F Q8WVE6 TM171_HUMAN transmembrane protein 171 322 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) TCTGAGCCTTCCCCACCGTAA 0.353000 26 175 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990030 63990030 + Missense_Mutation SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr6:63990030G>C ENST00000370657.4 - 4 1459 c.1426C>G c.(1426-1428)Cta>Gta p.L476V LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 476 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GTTTCTCCTAGAGCCTGTCTC 0.383000 12 87 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40947793 40947793 + Silent SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr5:40947793C>T ENST00000313164.9 + 8 1187 c.828C>T c.(826-828)ttC>ttT p.F276F NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 276 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CTGAGCCATTCTGGAAGGAGC 0.448000 5 92 0 0 1 0 0 PCDHGA2 0 broad.mit.edu 37 5 140718777 140718777 + Missense_Mutation SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr5:140718777G>A ENST00000394576.2 + 1 239 c.239G>A c.(238-240)cGa>cAa p.R80Q PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAACCCGCGAAGCGGCAGC 0.572000 20 135 0 0 1 0 0 ANKRD6 22881 broad.mit.edu 37 6 90276782 90276782 + Silent SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr6:90276782C>G ENST00000369408.5 + 2 436 c.87C>G c.(85-87)ctC>ctG p.L29L ANKRD6_ENST00000520793.1_Silent_p.L29L|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000485637.1_Silent_p.L29L|ANKRD6_ENST00000339746.4_Silent_p.L29L|ANKRD6_ENST00000447838.2_Silent_p.L29L|ANKRD6_ENST00000522441.1_Silent_p.L29L NM_001242813.1 NP_001229742.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 29 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) TGGTTCAGCTCATCAACAAGG 0.498000 4 7 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38853443 38853443 + Missense_Mutation SNP C C A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr19:38853443C>A ENST00000409235.3 + 20 2561 c.2446C>A c.(2446-2448)Ctg>Atg p.L816M CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.L776M NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 816 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 GCAGGAGGTCCTGATTAATCG 0.567000 54 123 2.75338e-15 3.02872e-15 1 1 0 REV1 51455 broad.mit.edu 37 2 100079058 100079058 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr2:100079058C>G ENST00000258428.3 - 3 309 c.81G>C c.(79-81)caG>caC p.Q27H REV1_ENST00000393445.3_Missense_Mutation_p.Q27H NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 27 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTCCAATTTCTGGACCTTGG 0.378000 Direct reversal of damage 10 134 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132161783 132161783 + Nonsense_Mutation SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chrX:132161783G>A ENST00000511190.1 - 6 935 c.466C>T c.(466-468)Cag>Tag p.Q156* USP26_ENST00000406273.1_Nonsense_Mutation_p.Q156*|USP26_ENST00000370832.1_Nonsense_Mutation_p.Q156* NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 156 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GGCATCCTCTGAAGGACACCT 0.388000 19 49 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116616440 116616440 + Missense_Mutation SNP T T A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr8:116616440T>A ENST00000395715.3 - 4 2333 c.1756A>T c.(1756-1758)Agc>Tgc p.S586C TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Missense_Mutation_p.S573C|TRPS1_ENST00000520276.1_Missense_Mutation_p.S577C|TRPS1_ENST00000519674.1_Missense_Mutation_p.S573C NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 573 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTTCTGGGCTGCAAAGTCCT 0.448000 Langer-Giedion syndrome 5 61 0 0 1 0 0 HSPA13 6782 broad.mit.edu 37 21 15746494 15746494 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr21:15746494C>G ENST00000285667.3 - 5 927 c.860G>C c.(859-861)aGa>aCa p.R287T HSPA13_ENST00000544452.1_Missense_Mutation_p.R79T NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 287 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TTGTCTCAATCTGTGGATTTC 0.418000 6 52 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10439465 10439465 + Silent SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr19:10439465G>C ENST00000293677.6 - 3 741 c.660C>G c.(658-660)ctC>ctG p.L220L NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 203 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) AGTGCACGTAGAGGGTGCGTG 0.637000 4 41 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44864971 44864971 + Nonsense_Mutation SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr15:44864971G>A ENST00000261866.7 - 33 6269 c.6253C>T c.(6253-6255)Cag>Tag p.Q2085* SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q1972*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q2085* NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2085 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GTGGTCAGCTGAAGAAATGTC 0.468000 11 86 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49935868 49935868 + Missense_Mutation SNP A A G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr19:49935868A>G ENST00000221485.3 - 9 1229 c.1058T>C c.(1057-1059)aTc>aCc p.I353T SLC17A7_ENST00000600601.1_Missense_Mutation_p.I286T|SLC17A7_ENST00000543531.1_Missense_Mutation_p.I341T NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 353 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGGCACGATGATGGTCATGAC 0.662000 15 40 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160738665 160738665 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr2:160738665C>T ENST00000263636.4 - 7 1243 c.1216G>A c.(1216-1218)Gag>Aag p.E406K LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E406K|LY75_ENST00000554112.1_Missense_Mutation_p.E406K|LY75_ENST00000553424.1_Missense_Mutation_p.E406K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E406K NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) ACAACCACCTCCACATCTGCT 0.388000 29 125 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44302632 44302632 + Translation_Start_Site SNP G G T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr7:44302632G>T ENST00000502837.2 - 0 245 CAMK2B_ENST00000395749.2_Silent_p.I64I|CAMK2B_ENST00000346990.4_Silent_p.I64I|CAMK2B_ENST00000258682.6_Silent_p.I64I|CAMK2B_ENST00000358707.3_Silent_p.I64I|CAMK2B_ENST00000440254.2_Silent_p.I64I|CAMK2B_ENST00000457475.1_Silent_p.I64I|CAMK2B_ENST00000353625.4_Silent_p.I64I|CAMK2B_ENST00000347193.4_Silent_p.I64I|CAMK2B_ENST00000350811.3_Silent_p.I64I|CAMK2B_ENST00000395747.2_Silent_p.I64I Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 GAAGGCGGCAGATCCGAGCCT 0.617000 12 88 4.3838e-07 4.67824e-07 1 1 0 GGCT 79017 broad.mit.edu 37 7 30538517 30538517 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr7:30538517C>G ENST00000275428.4 - 3 459 c.325G>C c.(325-327)Gaa>Caa p.E109Q GGCT_ENST00000409436.1_Missense_Mutation_p.E109Q|GGCT_ENST00000598361.1_Missense_Mutation_p.E24Q|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000005374.6_Intron NM_024051.3 NP_076956.1 O75223 GGCT_HUMAN gamma-glutamylcyclotransferase 109 release of cytochrome c from mitochondria cytosol acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 ACTTTAACTTCTATTACAACA 0.388000 13 91 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58253454 58253454 + Silent SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr15:58253454C>T ENST00000249750.4 - 11 2057 c.1290G>A c.(1288-1290)acG>acA p.T430T ALDH1A2_ENST00000347587.3_Silent_p.T392T|ALDH1A2_ENST00000559517.1_Silent_p.T334T|ALDH1A2_ENST00000537372.1_Silent_p.T409T|ALDH1A2_ENST00000558231.1_Silent_p.T401T NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 430 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTTCATCCATCGTCTTAAATC 0.408000 7 38 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48523067 48523067 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr4:48523067C>T ENST00000537810.1 - 55 8291 c.7687G>A c.(7687-7689)Gag>Aag p.E2563K FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2563K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2563K O94915 FRYL_HUMAN FRY-like 2563 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CTCCCCACCTCAGGCAGCCGG 0.468000 7 54 0 0 1 0 0 DDIT4 54541 broad.mit.edu 37 10 74034832 74034832 + Silent SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr10:74034832C>T ENST00000307365.3 + 3 786 c.585C>T c.(583-585)tcC>tcT p.S195S RP11-442H21.2_ENST00000491934.2_RNA NM_019058.2 NP_061931.1 Q9NX09 DDIT4_HUMAN DNA-damage-inducible transcript 4 195 apoptosis cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1) 12 TGTTTAGCTCCGCCAACTCTC 0.617000 OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 38 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99440359 99440359 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr8:99440359C>G ENST00000287042.4 + 2 502 c.152C>G c.(151-153)tCg>tGg p.S51W KCNS2_ENST00000521839.1_Missense_Mutation_p.S51W NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 51 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CTCTGCCACTCGCGCGAGGCC 0.637000 14 108 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235887339 235887339 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:235887339C>G ENST00000389794.3 - 39 9478 c.9304G>C c.(9304-9306)Gat>Cat p.D3102H LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.D3102H Q99698 LYST_HUMAN lysosomal trafficking regulator 3102 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTGGTGTTATCAAATGCCAAC 0.343000 5 77 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 21 55 0 0 1 0 0 HPDL 84842 broad.mit.edu 37 1 45793409 45793409 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:45793409C>G ENST00000334815.3 + 1 865 c.589C>G c.(589-591)Ccc>Gcc p.P197A NM_032756.2 NP_116145.1 Q96IR7 HPDL_HUMAN 4-hydroxyphenylpyruvate dioxygenase-like 197 aromatic amino acid family metabolic process 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(166;0.155) AGGTGAGGATCCCGAGCTGGG 0.642000 11 99 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201843979 201843979 + Missense_Mutation SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:201843979G>C ENST00000361565.4 + 22 2922 c.2853G>C c.(2851-2853)tgG>tgC p.W951C NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 951 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 ATGATATGTGggaggaccagg 0.438000 16 153 0 0 1 0 0 ZKSCAN4 387032 broad.mit.edu 37 6 28213044 28213044 + Silent SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr6:28213044G>A ENST00000377294.2 - 5 1731 c.1488C>T c.(1486-1488)ttC>ttT p.F496F ZKSCAN4_ENST00000423974.2_Silent_p.F341F NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 496 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 TATTCCGTGTGAAACTTCTCT 0.453000 17 93 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40321507 40321507 + Silent SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr17:40321507G>A ENST00000264661.3 - 9 1910 c.1578C>T c.(1576-1578)atC>atT p.I526I KCNH4_ENST00000607371.1_Silent_p.I526I NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 526 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CGTTGGCGTCGATGCCGCTGT 0.637000 27 50 0 0 1 0 0 TMEM192 201931 broad.mit.edu 37 4 166000862 166000862 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr4:166000862C>T ENST00000306480.5 - 6 909 c.764G>A c.(763-765)cGa>cAa p.R255Q TMEM192_ENST00000506087.1_Missense_Mutation_p.R251Q NM_001100389.1 NP_001093859.1 Q8IY95 TM192_HUMAN transmembrane protein 192 255 Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) AGCCAACAATCGCTTACTCAG 0.463000 7 36 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242157786 242157786 + Missense_Mutation SNP C C A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr2:242157786C>A ENST00000274979.8 + 21 2576 c.2473C>A c.(2473-2475)Cgc>Agc p.R825S ANO7_ENST00000402430.3_Missense_Mutation_p.R824S NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 825 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CGCGCACAACCGCACGTGCAG 0.776000 2 5 0.0784 0.0789521 1 1 0 SMG8 55181 broad.mit.edu 37 17 57288927 57288927 + Silent SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr17:57288927C>T ENST00000543872.2 + 2 1779 c.1515C>T c.(1513-1515)ccC>ccT p.P505P SMG8_ENST00000578922.1_Silent_p.P505P|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.P505P|SMG8_ENST00000580498.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 505 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 AAGCTTTACCCATGGCCCACA 0.403000 11 64 0 0 1 0 0 PSMD7 5713 broad.mit.edu 37 16 74336136 74336136 + Silent SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr16:74336136G>A ENST00000219313.4 + 5 524 c.384G>A c.(382-384)ccG>ccA p.P128P PSMD7_ENST00000568615.2_Silent_p.P128P|PSMD7_ENST00000540379.1_Silent_p.P51P|PSMD7_ENST00000567958.1_Silent_p.P128P NM_002811.4 NP_002802.2 P51665 PSD7_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 128 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 regulatory particle protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 15 ATGTGAAGCCGAAGGACCTAG 0.458000 11 88 0 0 1 0 0 NDUFA7 4701 broad.mit.edu 37 19 8381393 8381393 + Missense_Mutation SNP T T G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr19:8381393T>G ENST00000301457.2 - 3 275 c.238A>C c.(238-240)Aag>Cag p.K80Q NDUFA7_ENST00000598884.1_Missense_Mutation_p.K80Q NM_005001.3 NP_004992.2 O95182 NDUA7_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa 80 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity NS(1)|central_nervous_system(1)|lung(2)|ovary(1) 5 NADH(DB00157) TCTGCTGGCTTGCCTGACACC 0.592000 11 147 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 7 45 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95677084 95677084 + Silent SNP T T C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr14:95677084T>C ENST00000298912.4 - 7 854 c.741A>G c.(739-741)ctA>ctG p.L247L NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 247 Actin-binding.|CH 2. integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) AAGCCTTCTCTAGATTTTCTC 0.512000 82 142 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 27 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73021165 73021165 + Silent SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr11:73021165C>T ENST00000263674.3 + 1 1832 c.1482C>T c.(1480-1482)tcC>tcT p.S494S NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 494 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GTGGGAGCTCCGGGGACCGTG 0.597000 16 84 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr3:126707544T>G ENST00000393409.2 + 1 108 c.108T>G c.(106-108)ggT>ggG p.G36G PLXNA1_ENST00000251772.4_Silent_p.G13G NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) 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) CAGGCGGGGGTTCACAGCCCC 0.682000 12 38 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145060266 145060266 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr8:145060266C>G ENST00000313028.7 - 2 232 c.138G>C c.(136-138)caG>caC p.Q46H PARP10_ENST00000533665.1_Intron|PARP10_ENST00000524918.1_Missense_Mutation_p.Q46H|PARP10_ENST00000525773.1_Missense_Mutation_p.Q58H NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 46 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGCCCAGTCTCTGCCAGCTCA 0.622000 21 111 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125022933 125022933 + Silent SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr8:125022933G>A ENST00000522917.1 + 14 2006 c.1800G>A c.(1798-1800)ctG>ctA p.L600L FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L600L NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 600 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCAACATGCTGGAGAAAATGG 0.473000 49 157 0 0 1 0 0 FAM46B 115572 broad.mit.edu 37 1 27333107 27333107 + Silent SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:27333107G>C ENST00000289166.5 - 2 771 c.606C>G c.(604-606)ctC>ctG p.L202L NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 202 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) CCACAAACTTGAGCTCCACGT 0.542000 19 132 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 9858772 9858772 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr16:9858772C>T ENST00000396573.2 - 14 2938 c.2629G>A c.(2629-2631)Gaa>Aaa p.E877K GRIN2A_ENST00000396575.2_Missense_Mutation_p.E877K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E877K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E877K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E720K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E877K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 877 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTCTTTTCTTCAATGTGCACT 0.468000 38 95 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38907519 38907519 + Silent SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr17:38907519G>A ENST00000312150.4 - 4 789 c.729C>T c.(727-729)gcC>gcT p.A243A NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 243 Linker 12.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CCACCCCGGGGGCTGCGTTCA 0.572000 29 75 0 0 1 0 0 SLC50A1 55974 broad.mit.edu 37 1 155110531 155110531 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:155110531C>G ENST00000368404.4 + 5 583 c.521C>G c.(520-522)tCc>tGc p.S174C SLC50A1_ENST00000484157.1_Missense_Mutation_p.S109C|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000368401.5_Missense_Mutation_p.S119C|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S120C NM_018845.3 NP_061333.2 Q9BRV3 SWET1_HUMAN solute carrier family 50 (sugar efflux transporter), member 1 174 Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity endometrium(1)|lung(1)|ovary(1)|skin(1) 4 ACCTCTGCCTCCTGGTGCCTC 0.502000 10 138 0 0 1 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33052895 33052895 + Missense_Mutation SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr6:33052895G>C ENST00000418931.2 + 3 649 c.533G>C c.(532-534)gGa>gCa p.G178A NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 178 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 ATCCGTAATGGAGACTGGACC 0.557000 20 127 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133900464 133900464 + Silent SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr8:133900464G>A ENST00000220616.4 + 10 2452 c.2412G>A c.(2410-2412)gtG>gtA p.V804V TG_ENST00000377869.1_Silent_p.V804V NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 804 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGCTGCTAGTGAAGATCATGA 0.522000 10 54 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38983246 38983246 + Missense_Mutation SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr19:38983246G>A ENST00000355481.4 + 38 6375 c.6244G>A c.(6244-6246)Gag>Aag p.E2082K RYR1_ENST00000359596.3_Missense_Mutation_p.E2082K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2082K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2082 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAAACCTGAGGAGGAGCGGTC 0.632000 9 49 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121958892 121958892 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr12:121958892C>G ENST00000377069.4 - 9 1256 c.850G>C c.(850-852)Gcc>Ccc p.A284P KDM2B_ENST00000543852.1_Missense_Mutation_p.A84P|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.A315P|KDM2B_ENST00000536437.1_Missense_Mutation_p.A198P NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 315 JmjC. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GTGTAGACGGCATGGATCCAA 0.612000 5 43 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903757 20903757 + Silent SNP T T C rs10841611 by1000genomes TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr12:20903757T>C ENST00000381552.1 + 14 2315 c.1947T>C c.(1945-1947)caT>caC p.H649H SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000540354.1_Intron Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 0 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.H649H(1) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCGCATCTCATTGCTACAGCA 0.378000 5 57 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124373884 124373884 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr8:124373884C>T ENST00000287394.5 - 9 1159 c.1052G>A c.(1051-1053)cGa>cAa p.R351Q ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TGCATGCCTTCGCCTAAAGTA 0.403000 21 79 0 0 1 0 0 PTPN3 0 broad.mit.edu 37 9 112189342 112189342 + Silent SNP A A G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr9:112189342A>G ENST00000412145.1 - 7 3049 c.496T>C c.(496-498)Ttg>Ctg p.L166L PTPN3_ENST00000446349.1_Silent_p.L166L|PTPN3_ENST00000262539.3_Silent_p.L188L|PTPN3_ENST00000374541.2_Silent_p.L297L NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 297 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GATTTCCACAAGTTTTTGCAA 0.448000 9 53 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121698953 121698953 + Missense_Mutation SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr7:121698953G>C ENST00000393386.2 + 28 7039 c.6628G>C c.(6628-6630)Gaa>Caa p.E2210Q PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E1343Q NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 2210 Tyrosine-protein phosphatase 2. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TGTTATAAAAGAAGAAGCTGC 0.383000 9 78 0 0 1 0 0 SEC62 7095 broad.mit.edu 37 3 169694764 169694764 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr3:169694764C>T ENST00000337002.4 + 3 234 c.176C>T c.(175-177)tCa>tTa p.S59L SEC62_ENST00000480708.1_Missense_Mutation_p.S59L NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 59 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 CTTTTGGATTCAAAGTGGGCA 0.343000 13 29 0 0 1 0 0 DPF1 0 broad.mit.edu 37 19 38713285 38713285 + Silent SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr19:38713285G>A ENST00000416611.1 - 2 219 c.96C>T c.(94-96)tgC>tgT p.C32C DPF1_ENST00000456296.1_Silent_p.C32C|DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000355526.4_Silent_p.C58C|DPF1_ENST00000420980.2_Silent_p.C58C Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 58 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGCGCTCGGCGCACAGGCGCG 0.677000 6 19 0 0 1 0 0 CREBZF 58487 broad.mit.edu 37 11 85375852 85375852 + Missense_Mutation SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr11:85375852G>C ENST00000527447.1 - 1 294 c.68C>G c.(67-69)cCg>cGg p.P23R CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 23 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) AGCCGGCTCCGGGCTCTCACT 0.726000 21 33 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116021037 116021037 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr10:116021037C>G ENST00000603594.1 + 5 675 c.354C>G c.(352-354)atC>atG p.I118M VWA2_ENST00000392982.3_Missense_Mutation_p.I118M NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 118 VWFA 1. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) AGGCAAGAATCAAGAGGATGG 0.463000 13 97 0 0 1 0 0 SRC 6714 broad.mit.edu 37 20 36012660 36012660 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr20:36012660C>T ENST00000373578.2 + 4 453 c.104C>T c.(103-105)tCg>tTg p.S35L SRC_ENST00000373558.2_Missense_Mutation_p.S35L|SRC_ENST00000445403.1_Missense_Mutation_p.S35L|SRC_ENST00000360723.4_Missense_Mutation_p.S35L|SRC_ENST00000358208.4_Missense_Mutation_p.S35L|SRC_ENST00000373567.2_Missense_Mutation_p.S35L NM_198291.1 NP_938033.1 P12931 SRC_HUMAN v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog 35 axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) TTCCCCGCCTCGCAGACCCCC 0.746000 4 17 0 0 1 0 0 KRT8P12 0 broad.mit.edu 37 3 160285957 160285957 + RNA SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr3:160285957C>G ENST00000468527.1 + 0 968 AAGTTTGCCTCCTTCACAGAC 0.552000 25 103 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70405889 70405889 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr10:70405889C>T ENST00000373644.4 + 4 3612 c.3403C>T c.(3403-3405)Cat>Tat p.H1135Y NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1135 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ACACAATAATCATGGTTCATC 0.393000 8 52 0 0 1 0 0 ZNF655 79027 broad.mit.edu 37 7 99170671 99170671 + Missense_Mutation SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr7:99170671C>T ENST00000424881.1 + 4 1265 c.1045C>T c.(1045-1047)Cgt>Tgt p.R349C ZNF655_ENST00000493277.1_Missense_Mutation_p.R349C|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.R314C|ZNF655_ENST00000252713.4_Missense_Mutation_p.R314C NM_001083956.1|NM_001085368.1 NP_001077425.1|NP_001078837.1 Q8N720 ZN655_HUMAN zinc finger protein 655 314 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding p.R314C(1) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AGTCTTCAGTCGTAGTGTCCA 0.403000 6 97 0 0 1 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84911073 84911073 + Missense_Mutation SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr16:84911073G>A ENST00000262424.5 + 12 1410 c.1186G>A c.(1186-1188)Gct>Act p.A396T CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A396T|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A395T NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 396 LCCL 2. extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 CACGACCGTTGCTCAGCTGTG 0.537000 6 105 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43772209 43772209 + Silent SNP G G A rs144736946 TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr19:43772209G>A ENST00000244293.7 - 2 223 c.157C>T c.(157-159)Cta>Tta p.L53L PSG9_ENST00000418820.2_Silent_p.L53L|PSG9_ENST00000443718.3_Silent_p.L53L|PSG9_ENST00000270077.3_Silent_p.L53L|PSG9_ENST00000291752.5_Silent_p.L53L|PSG9_ENST00000596730.1_Silent_p.L53L|PSG9_ENST00000593948.1_Silent_p.L53L Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 53 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TGGACAAGTAGAAGAACATCC 0.473000 72 185 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3640002 3640002 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr16:3640002C>G ENST00000294008.3 - 12 4277 c.3637G>C c.(3637-3639)Gtg>Ctg p.V1213L NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1213 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TGCTGCAGCACAGCTTCGCTT 0.577000 Direct reversal of damage 25 142 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50354303 50354303 + Splice_Site SNP C C T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr16:50354303C>T ENST00000394688.3 - 15 1772 c.e15-1 BRD7_ENST00000394689.2_Splice_Site Q9NPI1 BRD7_HUMAN bromodomain containing 7 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) ATTTCAGCTTCTGTGTGGTAA 0.463000 11 81 0 0 1 0 0 PDIK1L 149420 broad.mit.edu 37 1 26448486 26448486 + Silent SNP G G C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr1:26448486G>C ENST00000374271.4 + 4 731 c.444G>C c.(442-444)ctG>ctC p.L148L PDIK1L_ENST00000374269.1_Silent_p.L148L NM_001243532.1|NM_001243533.1|NM_152835.4 NP_001230461.1|NP_001230462.1|NP_690048.1 Q8N165 PDK1L_HUMAN PDLIM1 interacting kinase 1 like 148 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) TGCTTCAGCTGAGCAGTGCCC 0.438000 17 109 0 0 1 0 0 WASL 8976 broad.mit.edu 37 7 123332450 123332450 + Missense_Mutation SNP C C G TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr7:123332450C>G ENST00000223023.4 - 9 1630 c.1298G>C c.(1297-1299)gGa>gCa p.G433A NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 433 WH2 2. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGCATCTCGTCCAGAGCAGGA 0.398000 18 99 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121230820 121230820 + Nonsense_Mutation SNP G G A TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr3:121230820G>A ENST00000264233.5 - 10 1653 c.1525C>T c.(1525-1527)Cag>Tag p.Q509* NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 509 Helicase C-terminal. 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) AGAGAACCCTGAAGGAGAGCT 0.408000 DNA polymerases (catalytic subunits) 20 105 0 0 1 0 0 ZNF883 169834 broad.mit.edu 37 9 115760586 115760586 + RNA SNP C C T rs75939690 byFrequency TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr9:115760586C>T ENST00000427548.1 - 0 1227 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TCATTTTTGTCGGTATGTAAT 0.289000 3 22 0 0 1 0 0 STAG3L4 0 broad.mit.edu 37 7 66767610 66767611 + RNA INS - - G rs71293166 by1000genomes TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr7:66767610_66767611insG ENST00000416602.2 + 0 3_4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CACCGGACTGCTTTTTTTTTTT 0.545 3 5 --- --- --- --- FAM3C 10447 broad.mit.edu 37 7 121002954 121002955 + Frame_Shift_Ins INS - - T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr7:121002954_121002955insT ENST00000359943.3 - 7 591_592 c.378_379insA c.(376-381)gggagafs p.R127fs NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 127 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) TGCTTACCTCCTCCCCACATGT 0.332 7 49 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115375030 115375035 + In_Frame_Del DEL AGCCGG AGCCGG - TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr11:115375030_115375035delAGCCGG ENST00000542447.2 - 1 206_211 c.78_83delCCGGCT c.(76-84)ctt>ct p.LRL26del CADM1_ENST00000452722.2_In_Frame_Del_p.LRL26del|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_In_Frame_Del_p.LRL26del|CADM1_ENST00000331581.6_In_Frame_Del_p.LRL26del|CADM1_ENST00000537058.1_In_Frame_Del_p.LRL26del NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 26 adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) CAACAGCAGAAGCCGGAGCCGGAGCC 0.694 3 6 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 8 292 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20296055 20296056 + Frame_Shift_Ins INS - - T rs149523724 by1000genomes TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr14:20296055_20296056insT ENST00000315947.1 + 1 448_449 c.448_449insT c.(448-450)tggfs p.W150fs OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.W150fs NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCTCTGTGGCTTGGGGGTTTT 0.530 62 431 --- --- --- --- TRAV24 0 broad.mit.edu 37 14 22573824 22573825 + RNA INS - - A rs112427980 by1000genomes TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr14:22573824_22573825insA ENST00000390453.1 + 0 55 TGACTCTTTTTTAAAAAAACAG 0.450 8 12 --- --- --- --- FSCB 84075 broad.mit.edu 37 14 44974154 44974155 + In_Frame_Ins INS - - GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG rs71108655 byFrequency TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG ENST00000340446.4 - 1 2327_2328 c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC c.(2035-2037)cgc>cCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCgc p.678_679insPLKFSLHQLRRP NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 678 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GAACTTCAGCAGGGGCCTCCTC 0.604 8 50 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55815035 55815036 + Splice_Site INS - - C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr19:55815035_55815036insC ENST00000309383.1 + 12 1404_1405 c.1126_splice c.e12-1 p.A376_splice BRSK1_ENST00000590333.1_Splice_Site_p.A392_splice|BRSK1_ENST00000326848.7_Splice_Site_p.A71_splice NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 376 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R379fs*9(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TGTCCCTCAGACCCCCCCCGGA 0.579 7 162 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343746 15343749 + RNA DEL TCTG TCTG - TCGA-EL-A3ZO-01A-11D-A23M-08 TCGA-EL-A3ZO-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21a5295b-4bfd-44d5-8013-41a2767b00d5 334efff1-8d40-4737-9810-b9586895deef g.chr21:15343746_15343749delTCTG ENST00000344693.5 - 0 736 NR_027270.1 CTCTGTGCTTTCTGATGTGCTGCT 0.407 3 5 --- --- --- ---