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 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 4 70 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121238999 121238999 + Silent SNP T T A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr8:121238999T>A ENST00000297848.3 + 16 2268 c.1998T>A c.(1996-1998)acT>acA p.T666T COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Silent_p.T571T|COL14A1_ENST00000309791.4_Silent_p.T666T|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 666 Fibronectin type-III 5. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGGGGAAGACTGAGGAGGTGA 0.438000 6 48 0 0 1 0 0 SND1 27044 broad.mit.edu 37 7 127721495 127721495 + Silent SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr7:127721495C>T ENST00000354725.3 + 18 2246 c.2052C>T c.(2050-2052)ccC>ccT p.P684P NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 684 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 GCTACAAGCCCGTGTTTGTGA 0.597000 17 19 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14552718 14552718 + RNA SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr3:14552718C>T ENST00000273083.3 - 0 1952 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 ACCAGGTCCTCGCACTGCCGC 0.617000 12 28 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145006361 145006361 + Missense_Mutation SNP C C G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr8:145006361C>G ENST00000322810.4 - 17 2599 c.2430G>C c.(2428-2430)aaG>aaC p.K810N PLEC_ENST00000527096.1_Missense_Mutation_p.K696N|PLEC_ENST00000354958.2_Missense_Mutation_p.K651N|PLEC_ENST00000354589.3_Missense_Mutation_p.K673N|PLEC_ENST00000436759.2_Missense_Mutation_p.K700N|PLEC_ENST00000345136.3_Missense_Mutation_p.K673N|PLEC_ENST00000356346.3_Missense_Mutation_p.K659N|PLEC_ENST00000357649.2_Missense_Mutation_p.K677N|PLEC_ENST00000398774.2_Missense_Mutation_p.K641N NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 810 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TTTGGAGCTCCTTGATCTTCT 0.711000 44 29 0 0 1 0 0 SPATS2 65244 broad.mit.edu 37 12 49912901 49912901 + Missense_Mutation SNP A A G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr12:49912901A>G ENST00000553127.1 + 12 1457 c.944A>G c.(943-945)aAg>aGg p.K315R SPATS2_ENST00000552918.1_Missense_Mutation_p.K315R|SPATS2_ENST00000321898.6_Missense_Mutation_p.K315R Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 315 cytoplasm breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4) 21 CTTCTAAAGAAGATGACTCAT 0.398000 14 15 0 0 1 0 0 STMN4 81551 broad.mit.edu 37 8 27099994 27099994 + Missense_Mutation SNP A A G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr8:27099994A>G ENST00000350889.4 - 3 142 c.29T>C c.(28-30)aTg>aCg p.M10T STMN4_ENST00000522908.1_Missense_Mutation_p.M10T|STMN4_ENST00000265770.7_Missense_Mutation_p.M10T|STMN4_ENST00000523048.1_Missense_Mutation_p.M10T|STMN4_ENST00000519614.1_Missense_Mutation_p.M10T|STMN4_ENST00000519997.1_Start_Codon_SNP_p.M1T NM_030795.2 NP_110422.2 Q9H169 STMN4_HUMAN stathmin-like 4 10 intracellular signal transduction endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 11 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) GAGCTCCTTCATCTTCTCTTT 0.572000 15 14 0 0 1 0 0 OMP 4975 broad.mit.edu 37 11 76813927 76813927 + Silent SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr11:76813927G>A ENST00000529803.1 + 1 42 c.42G>A c.(40-42)ccG>ccA p.P14P CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 14 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TGGACATGCCGCTGGTCCTGG 0.692000 21 14 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85972083 85972083 + Missense_Mutation SNP G G T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr10:85972083G>T ENST00000372117.3 + 15 1805 c.1702G>T c.(1702-1704)Gat>Tat p.D568Y CDHR1_ENST00000440770.2_Missense_Mutation_p.D272Y|CDHR1_ENST00000332904.3_Missense_Mutation_p.D568Y NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 568 Cadherin 5. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 CACACTGCTGGATGTCAATGA 0.517000 46 95 4.01344e-20 4.35868e-20 1 1 0 FCHO2 115548 broad.mit.edu 37 5 72364497 72364497 + Silent SNP T T G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr5:72364497T>G ENST00000430046.2 + 19 1586 c.1470T>G c.(1468-1470)ccT>ccG p.P490P FCHO2_ENST00000341845.6_Silent_p.P490P|FCHO2_ENST00000512348.1_Silent_p.P457P NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 490 Ser-rich. cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) TCAGCCCACCTGTAACTTCCA 0.413000 38 23 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13663415 13663415 + Splice_Site SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr3:13663415G>A ENST00000404922.3 + 9 2415 c.2296_splice c.e9+1 p.D766_splice FBLN2_ENST00000492059.1_Splice_Site_p.D766_splice|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 764 EGF-like 4; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GAAGTGCGTGGGTAAGCCAGG 0.617000 9 14 0 0 1 0 0 SULT1A1 6817 broad.mit.edu 37 16 28618359 28618359 + Missense_Mutation SNP A A T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr16:28618359A>T ENST00000395609.1 - 7 1170 c.412T>A c.(412-414)Tcc>Acc p.S138T SULT1A1_ENST00000569554.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000395607.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.S138T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.S60T P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 138 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 TGGTAGTAGGAAACTGCCACA 0.582000 36 119 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45556036 45556036 + Silent SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr18:45556036C>T ENST00000588982.1 - 4 1956 c.1455G>A c.(1453-1455)gcG>gcA p.A485A ZBTB7C_ENST00000535628.2_Silent_p.A485A|ZBTB7C_ENST00000590800.1_Silent_p.A485A|ZBTB7C_ENST00000586438.1_Silent_p.A485A|ZBTB7C_ENST00000332053.2_Silent_p.A485A A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 485 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CGGCCCTCCACGCAGCAGGCT 0.736000 6 1 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102661492 102661492 + Missense_Mutation SNP C C G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr11:102661492C>G ENST00000315274.6 - 9 1309 c.1242G>C c.(1240-1242)atG>atC p.M414I WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 414 Hemopexin-like 3. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CATGTGCTATCATTTTGGGAT 0.383000 28 19 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 99 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692036 20692036 + Silent SNP A A G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr14:20692036A>G ENST00000315519.2 + 1 246 c.168A>G c.(166-168)acA>acG p.T56T NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) ATCTCCTGACACTGCTAGGGA 0.478000 15 60 0 0 1 0 0 DOC2A 8448 broad.mit.edu 37 16 30021385 30021385 + Silent SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr16:30021385G>A ENST00000350119.4 - 2 349 c.159C>T c.(157-159)ccC>ccT p.P53P DOC2A_ENST00000564944.1_Silent_p.P53P|DOC2A_ENST00000564979.1_Silent_p.P53P NM_003586.2 NP_003577.2 Q14183 DOC2A_HUMAN double C2-like domains, alpha 53 Interaction with UNC13D and DYNLT1. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 CCAGATgggcgggggcctccc 0.721000 31 22 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184071184 184071184 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr3:184071184C>T ENST00000265593.4 - 17 2053 c.1882G>A c.(1882-1884)Gag>Aag p.E628K CLCN2_ENST00000344937.7_Missense_Mutation_p.E611K|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.E584K|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.E628K NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 628 CBS 1. chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TGTGAACGCTCGATGGAGCCC 0.632000 14 35 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16149958 16149958 + Missense_Mutation SNP A A G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr16:16149958A>G ENST00000399408.2 + 12 1658 c.1483A>G c.(1483-1485)Atg>Gtg p.M495V ABCC1_ENST00000349029.5_Missense_Mutation_p.M495V|ABCC1_ENST00000346370.5_Missense_Mutation_p.M495V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M495V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M495V|ABCC1_ENST00000399410.3_Missense_Mutation_p.M495V P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 495 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGTGGCCCACATGAAGAGCAA 0.473000 11 41 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20682948 20682948 + Silent SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr7:20682948C>T ENST00000404938.2 + 6 1108 c.456C>T c.(454-456)atC>atT p.I152I NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 336 ABC transporter 1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CACAGGACATCGGCTGGTTTG 0.398000 5 37 0 0 1 0 0 AKR1C3 8644 broad.mit.edu 37 10 5141029 5141029 + Silent SNP A A G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr10:5141029A>G ENST00000380554.3 + 4 1057 c.405A>G c.(403-405)ggA>ggG p.G135G AKR1C3_ENST00000439082.2_Silent_p.G16G|AKR1C3_ENST00000605149.1_Silent_p.G112G NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 135 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) ATGAAAATGGAAAAGTAATAT 0.413000 8 13 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52366244 52366244 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr3:52366244C>T ENST00000420323.2 + 8 1381 c.1120C>T c.(1120-1122)Cgt>Tgt p.R374C NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 374 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GTTCGCACAACGTGTGGTCCA 0.602000 12 14 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234541826 234541826 + Missense_Mutation SNP G G C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:234541826G>C ENST00000040877.1 - 24 3811 c.3812C>G c.(3811-3813)gCc>gGc p.A1271G TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1271 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) AACTATAAGGGCTTGCTTCAG 0.363000 13 46 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77171011 77171011 + Missense_Mutation SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr18:77171011G>A ENST00000253506.5 + 2 1105 c.736G>A c.(736-738)Gtc>Atc p.V246I NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V246I|NFATC1_ENST00000329101.4_Missense_Mutation_p.V233I|NFATC1_ENST00000591814.1_Missense_Mutation_p.V246I|NFATC1_ENST00000586434.1_Missense_Mutation_p.V233I|NFATC1_ENST00000592223.1_Missense_Mutation_p.V233I|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.V246I|NFATC1_ENST00000427363.2_Missense_Mutation_p.V246I|NFATC1_ENST00000318065.5_Missense_Mutation_p.V233I NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 246 3 X SP repeats. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.V233I(1) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCGCGCCAGCGTCACTGAGGA 0.711000 25 8 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75265354 75265354 + Silent SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr14:75265354C>T ENST00000325680.7 + 5 3478 c.3354C>T c.(3352-3354)ggC>ggT p.G1118G YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.G923G NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 923 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GGAGGGCTGGCAGTCAGGAGA 0.642000 29 23 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537572 24537572 + Missense_Mutation SNP A A C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr5:24537572A>C ENST00000264463.4 - 3 950 c.443T>G c.(442-444)aTc>aGc p.I148S NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 148 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATGAATTTTGATCACAAACTC 0.418000 HNSCC(23;0.051) 27 108 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248844931 248844931 + Missense_Mutation SNP T T G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:248844931T>G ENST00000342623.3 - 1 698 c.675A>C c.(673-675)agA>agC p.R225S NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 CTGAAGGGATTCTGAGCACCG 0.488000 16 44 0 0 1 0 0 CCDC22 28952 broad.mit.edu 37 X 49098537 49098537 + Missense_Mutation SNP C C G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chrX:49098537C>G ENST00000376227.3 + 3 454 c.284C>G c.(283-285)cCt>cGt p.P95R CCDC22_ENST00000496651.1_3'UTR NM_014008.3 NP_054727.1 O60826 CCD22_HUMAN coiled-coil domain containing 22 95 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 CCCAGTGAGCCTGACCTCCGA 0.607000 31 8 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6228223 6228223 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:6228223C>T ENST00000262450.3 - 2 293 c.194G>A c.(193-195)cGg>cAg p.R65Q CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 65 Lys-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TTTCTTCTTCCGCTTCCCTTT 0.592000 18 79 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703549 55703549 + Missense_Mutation SNP C C A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr11:55703549C>A ENST00000301532.3 - 1 327 c.328G>T c.(328-330)Gca>Tca p.A110S NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TCTGTATCTGCAAAAGTACAG 0.438000 9 22 3.09899e-07 3.16159e-07 1 1 0 CTSZ 1522 broad.mit.edu 37 20 57571752 57571752 + Missense_Mutation SNP C C A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr20:57571752C>A ENST00000217131.5 - 5 861 c.743G>T c.(742-744)tGg>tTg p.W248L NM_001336.3 NP_001327.2 Q9UBR2 CATZ_HUMAN cathepsin Z 248 proteolysis endoplasmic reticulum|extracellular space|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 10 all_lung(29;0.00711) Colorectal(105;0.109) ACTGATGCCCCACCCAGCCAC 0.448000 26 52 1.1804e-14 1.24188e-14 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11058322 11058322 + RNA SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr21:11058322C>T ENST00000470054.1 - 0 325 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) AAATGCACATCGCTGAAAGGG 0.383000 4 104 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39597212 39597212 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr13:39597212C>T ENST00000352251.3 - 8 1453 c.620G>A c.(619-621)cGa>cAa p.R207Q PROSER1_ENST00000350125.3_Missense_Mutation_p.R185Q|PROSER1_ENST00000484434.2_Intron NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 207 Pro-rich. TGCATGTGGTCGGCATGGAGG 0.348000 24 11 0 0 1 0 0 CRISP1 167 broad.mit.edu 37 6 49814267 49814267 + Missense_Mutation SNP G G A rs139194307 byFrequency TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr6:49814267G>A ENST00000335847.4 - 5 502 c.401C>T c.(400-402)aCg>aTg p.T134M CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 134 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) GTCATCATCCGTTGTTGTCCA 0.398000 14 67 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18929042 18929042 + Missense_Mutation SNP G G C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chrX:18929042G>C ENST00000379942.4 - 20 2839 c.2174C>G c.(2173-2175)gCc>gGc p.A725G NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 725 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TTTACGGTGGGCACTTAGAAC 0.358000 62 20 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150558050 150558050 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr7:150558050C>T ENST00000493429.1 + 7 2593 c.2009C>T c.(2008-2010)aCg>aTg p.T670M AOC1_ENST00000360937.4_Missense_Mutation_p.T670M|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.T689M|AOC1_ENST00000467291.1_Missense_Mutation_p.T670M amine oxidase, copper containing 1 GCCTGGGTGACGGTGGGCTTC 0.602000 33 35 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133174753 133174753 + Silent SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr2:133174753G>A ENST00000329321.3 + 1 607 c.138G>A c.(136-138)ctG>ctA p.L46L NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 46 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGGGCCTTCTGGGGAACAGCG 0.517000 60 11 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2962374 2962374 + Silent SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr7:2962374G>A ENST00000396946.4 - 17 2566 c.2163C>T c.(2161-2163)ggC>ggT p.G721G NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 721 PDZ. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCTGCCTCTCGCCTCGGATGC 0.617000 Mis DLBCL 21 45 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24771770 24771770 + Missense_Mutation SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr8:24771770G>A ENST00000221166.5 + 1 1246 c.464G>A c.(463-465)cGc>cAc p.R155H NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.R155H|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.R155H P07197 NFM_HUMAN neurofilament, medium polypeptide 155 Coil 1B.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CAGGAGATCCGCGAGCTGCGC 0.652000 20 9 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18845998 18845998 + RNA SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr22:18845998G>A ENST00000412938.1 + 0 3356 CCCGTCCTGCGCAGGCCGACA 0.607000 8 43 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18845990 18845990 + RNA SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr22:18845990C>T ENST00000412938.1 + 0 3348 ACCTCCATCCCGTCCTGCGCA 0.582000 9 32 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54955077 54955077 + Silent SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chrX:54955077C>T ENST00000173898.7 + 12 2032 c.1920C>T c.(1918-1920)cgC>cgT p.R640R TRO_ENST00000399736.1_Silent_p.R243R|TRO_ENST00000375022.4_Silent_p.R640R|TRO_ENST00000375041.2_Silent_p.R243R|TRO_ENST00000420798.2_Silent_p.R171R|TRO_ENST00000319167.8_Silent_p.R640R NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 640 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TGCAGTACCGCGAGGCAGTGG 0.512000 37 5 0 0 1 0 0 HLA-DQA1 3117 broad.mit.edu 37 6 32610504 32610504 + Missense_Mutation SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr6:32610504G>A ENST00000343139.5 + 4 833 c.731G>A c.(730-732)cGt>cAt p.R244H HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.R244H|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.R244H NM_002122.3 NP_002113.2 P01909 DQA1_HUMAN major histocompatibility complex, class II, DQ alpha 1 243 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 plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 CAAGGCCTGCGTTCAGTTGGT 0.537000 65 122 0 0 1 0 0 TMCO5A 145942 broad.mit.edu 37 15 38229143 38229143 + Missense_Mutation SNP A A C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr15:38229143A>C ENST00000558158.1 + 4 390 c.236A>C c.(235-237)cAg>cCg p.Q79P TMCO5A_ENST00000319669.4_Missense_Mutation_p.Q79P|TMCO5A_ENST00000540944.1_Missense_Mutation_p.Q79P|TMCO5A_ENST00000559502.1_Missense_Mutation_p.Q79P Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 79 integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 AGAGCCTTGCAGGAGCTGGAG 0.488000 24 6 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20331092 20331092 + Splice_Site SNP T T C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr16:20331092T>C ENST00000302555.5 - 6 1008 c.e6-2 GP2_ENST00000381362.4_Splice_Site|GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000573897.1_Splice_Site|GP2_ENST00000381360.5_Splice_Site P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TTGATTTCTCTTTGGCAAAAA 0.388000 56 56 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23232558 23232558 + Missense_Mutation SNP A A G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:23232558A>G ENST00000400191.3 + 10 1862 c.1844A>G c.(1843-1845)gAa>gGa p.E615G EPHB2_ENST00000374632.3_Missense_Mutation_p.E616G|EPHB2_ENST00000374627.1_Missense_Mutation_p.E610G|EPHB2_ENST00000374630.3_Missense_Mutation_p.E615G NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 615 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TTTGCCAAGGAAATTGACATC 0.532000 18 15 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2541172 2541172 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:2541172C>T ENST00000288709.6 - 5 604 c.364G>A c.(364-366)Gag>Aag p.E122K MMEL1_ENST00000378412.3_Missense_Mutation_p.E131K|MMEL1_ENST00000502556.1_Missense_Mutation_p.E131K NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 131 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GAGTTGGTCTCAGGGATCACG 0.617000 14 41 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109801533 109801533 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:109801533C>T ENST00000271332.3 + 2 3851 c.3790C>T c.(3790-3792)Cgg>Tgg p.R1264W NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1264 EGF-like 1; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CGTGCTCTTCCGGCCCATCCA 0.697000 9 17 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 27 1 1 1 1 0 OR4D2 124538 broad.mit.edu 37 17 56247337 56247337 + Missense_Mutation SNP G G T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr17:56247337G>T ENST00000545221.1 + 1 321 c.321G>T c.(319-321)ttG>ttT p.L107F NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TCCACTTTTTGGGAGGTGCCA 0.527000 61 15 5.7761e-15 6.14091e-15 1 1 0 WDR66 144406 broad.mit.edu 37 12 122361824 122361824 + Silent SNP G G T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr12:122361824G>T ENST00000288912.4 + 3 1529 c.675G>T c.(673-675)cgG>cgT p.R225R WDR66_ENST00000397454.2_Silent_p.R225R NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 225 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) GGATCTCCCGGGAGTCACTGG 0.493000 25 52 1.64293e-13 1.71068e-13 1 1 0 RERE 473 broad.mit.edu 37 1 8684426 8684426 + Missense_Mutation SNP G G C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:8684426G>C ENST00000337907.3 - 4 973 c.339C>G c.(337-339)atC>atG p.I113M RERE_ENST00000400907.2_Missense_Mutation_p.I113M|RERE_ENST00000400908.2_Missense_Mutation_p.I113M NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 113 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TCCGACTCTCGATATACACAC 0.368000 17 61 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53957934 53957934 + Silent SNP T T C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr15:53957934T>C ENST00000396328.1 - 14 2036 c.1797A>G c.(1795-1797)agA>agG p.R599R WDR72_ENST00000557913.1_Silent_p.R596R|WDR72_ENST00000360509.5_Silent_p.R599R|WDR72_ENST00000559418.1_Silent_p.R609R NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 599 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TAATTCGTGCTCTTTCTCCTG 0.373000 23 8 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220396 130220396 + Missense_Mutation SNP A A T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chrX:130220396A>T ENST00000276211.5 + 10 1720 c.1375A>T c.(1375-1377)Atc>Ttc p.I459F ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I447F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I323F NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 459 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CTTGAGGAAGATCCAGTGAGT 0.473000 11 31 0 0 1 0 0 KCNK9 51305 broad.mit.edu 37 8 140630989 140630989 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr8:140630989C>T ENST00000520439.1 - 2 700 c.637G>A c.(637-639)Gcc>Acc p.A213T KCNK9_ENST00000303015.1_Missense_Mutation_p.A213T Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 213 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TTCTGCAGGGCACCCTTGGTC 0.567000 26 159 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60927360 60927360 + Missense_Mutation SNP G G C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr20:60927360G>C ENST00000252999.3 - 4 691 c.625C>G c.(625-627)Cgg>Ggg p.R209G LAMA5_ENST00000370677.3_Missense_Mutation_p.R209G|LAMA5_ENST00000370692.3_Missense_Mutation_p.R209G NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 209 Laminin N-terminal. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGTCGTCCCGTGTGATGCGC 0.687000 6 17 0 0 1 0 0 PDZD7 79955 broad.mit.edu 37 10 102783751 102783751 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr10:102783751C>T ENST00000370215.3 - 3 526 c.301G>A c.(301-303)Gtg>Atg p.V101M PDZD7_ENST00000470414.1_Missense_Mutation_p.V101M NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 101 PDZ 1. cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CCCCCGCGCACGCTGAAGCCC 0.582000 6 92 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60901785 60901785 + Missense_Mutation SNP G G A rs149220558 byFrequency TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr20:60901785G>A ENST00000252999.3 - 40 5312 c.5246C>T c.(5245-5247)cCg>cTg p.P1749L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1749 Laminin IV type A. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGGTATGCCGGCTCCAGGAA 0.672000 26 48 0 0 1 0 0 ARL15 54622 broad.mit.edu 37 5 53467719 53467719 + Nonsense_Mutation SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr5:53467719G>A ENST00000504924.1 - 2 181 c.88C>T c.(88-90)Cga>Tga p.R30* ARL15_ENST00000507646.2_Nonsense_Mutation_p.R30*|ARL15_ENST00000502271.1_Intron|ARL15_ENST00000510591.2_5'UTR NM_019087.2 NP_061960.1 Q9NXU5 ARL15_HUMAN ADP-ribosylation factor-like 15 30 GTP binding endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 Lung NSC(810;0.000779) TATTCTGGTCGTGCAGGTGGT 0.463000 25 14 0 0 1 0 0 GOLGA6L2 283685 broad.mit.edu 37 15 23690478 23690478 + Missense_Mutation SNP C C A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr15:23690478C>A ENST00000567107.1 - 2 244 c.192G>T c.(190-192)gaG>gaT p.E64D GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.E64D|GOLGA6L2_ENST00000345070.5_De_novo_Start_InFrame golgin A6 family-like 2 breast(1)|endometrium(7) 8 AATGGCAACCCTCCGAAGTGG 0.502000 45 3 1.08114e-33 1.1869e-33 1 1 0 NF1 4763 broad.mit.edu 37 17 29528441 29528441 + Nonsense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr17:29528441C>T ENST00000358273.4 + 11 1581 c.1198C>T c.(1198-1200)Cag>Tag p.Q400* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 400 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6)|p.Q400*(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTGCCTGGCTCAGAATTCACC 0.308000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 43 13 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33947401 33947401 + Missense_Mutation SNP G G A rs149980670 TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr5:33947401G>A ENST00000382102.3 - 6 1292 c.1235C>T c.(1234-1236)aCg>aTg p.T412M SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000296589.4_Missense_Mutation_p.T412M NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 412 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane p.T412M(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 AATAAATCCCGTCCCCAGGCC 0.488000 8 182 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50834308 50834308 + Missense_Mutation SNP C C G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr12:50834308C>G ENST00000398473.2 + 7 838 c.726C>G c.(724-726)ttC>ttG p.F242L LARP4_ENST00000522085.1_Missense_Mutation_p.F242L|LARP4_ENST00000518444.1_Missense_Mutation_p.F241L|LARP4_ENST00000429001.3_Missense_Mutation_p.F248L|LARP4_ENST00000347328.5_Missense_Mutation_p.F242L|LARP4_ENST00000293618.8_Missense_Mutation_p.F242L|LARP4_ENST00000518561.1_Missense_Mutation_p.F172L NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 242 RRM. nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 ATATCACTTTCCAGTCAGACA 0.353000 12 14 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54410111 54410111 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr19:54410111C>T ENST00000263431.3 + 18 2338 c.2056C>T c.(2056-2058)Cgc>Tgc p.R686C PRKCG_ENST00000540413.1_Missense_Mutation_p.R686C|PRKCG_ENST00000542049.1_Missense_Mutation_p.R537C NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 686 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCCGGATGCCCGCAGCCCCAC 0.682000 OREG0025667 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 82 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86025226 86025226 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr8:86025226C>T ENST00000414626.2 + 3 1265 c.376C>T c.(376-378)Cgt>Tgt p.R126C LRRCC1_ENST00000360375.3_Missense_Mutation_p.R146C Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 146 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 ACATAGTAATCGTATAGATAG 0.358000 33 25 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61105561 61105561 + Missense_Mutation SNP T T G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr11:61105561T>G ENST00000394900.3 + 3 381 c.152T>G c.(151-153)cTg>cGg p.L51R DAK_ENST00000530057.1_3'UTR NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 51 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 CGGGTGGCACTGCTGTCGGGT 0.687000 42 32 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76712656 76712656 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr6:76712656C>T ENST00000369950.3 - 12 1459 c.1270G>A c.(1270-1272)Gga>Aga p.G424R IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 424 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TGCTCTGCTCCGTCCACTGTC 0.438000 9 8 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1616711 1616711 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr8:1616711C>T ENST00000421627.2 + 6 1921 c.1787C>T c.(1786-1788)gCg>gTg p.A596V NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 675 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ATGAACCTCGCGCTGGAAACG 0.672000 11 10 0 0 1 0 0 PCDHGA2 0 broad.mit.edu 37 5 140718978 140718978 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr5:140718978C>T ENST00000394576.2 + 1 440 c.440C>T c.(439-441)aCg>aTg p.T147M 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) GAAACCACTACGCCAGGATTC 0.453000 72 57 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149557897 149557897 + Missense_Mutation SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr7:149557897G>A ENST00000223210.4 + 7 1893 c.1648G>A c.(1648-1650)Gac>Aac p.D550N NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 550 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 GATCTCCAGCGACCTCATGGC 0.512000 34 43 0 0 1 0 0 RNF121 55298 broad.mit.edu 37 11 71693851 71693851 + Silent SNP A A C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr11:71693851A>C ENST00000361756.3 + 4 649 c.288A>C c.(286-288)acA>acC p.T96T RNF121_ENST00000545854.1_Silent_p.T15T|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000530137.1_Silent_p.T64T|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Silent_p.T64T NM_018320.4 NP_060790.2 Q9H920 RN121_HUMAN ring finger protein 121 96 integral to membrane zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1) 13 TCTATTTCACAGTGAAGCTGC 0.512000 25 78 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121535576 121535576 + Nonstop_Mutation SNP A A G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr8:121535576A>G ENST00000305949.1 + 22 2760 c.2715A>G c.(2713-2715)tgA>tgG p.*905W NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 0 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) GCAAGAAATGATACATAATCA 0.269000 21 110 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 27 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745372 135745372 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr2:135745372C>T ENST00000375845.3 - 7 1100 c.1070G>A c.(1069-1071)cGa>cAa p.R357Q MAP3K19_ENST00000392915.1_Missense_Mutation_p.R374Q|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R244Q|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TTCAGGTTTTCGCGTTTTACT 0.373000 18 11 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6643541 6643541 + Silent SNP G G T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr11:6643541G>T ENST00000299441.3 - 21 9777 c.9366C>A c.(9364-9366)ggC>ggA p.G3122G RP11-732A19.5_ENST00000526456.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 3122 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAGGCCACAGCCCCCCAGGA 0.662000 6 5 2.0095e-06 2.02959e-06 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 5 42 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2842328 2842328 + Missense_Mutation SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr20:2842328G>A ENST00000380445.3 + 9 949 c.877G>A c.(877-879)Ggc>Agc p.G293S VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.G293S NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 293 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 GATGGTGGTGGGCGATGCACC 0.622000 6 13 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6304157 6304157 + Missense_Mutation SNP T T C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr4:6304157T>C ENST00000226760.1 + 8 2805 c.2635T>C c.(2635-2637)Ttc>Ctc p.F879L WFS1_ENST00000503569.1_Missense_Mutation_p.F879L NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 879 Poly-Phe. endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) GAAGTTCGCCTTCGACTTCTT 0.622000 33 12 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103352425 103352425 + Missense_Mutation SNP G G A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:103352425G>A ENST00000358392.2 - 63 5149 c.4832C>T c.(4831-4833)aCt>aTt p.T1611I COL11A1_ENST00000353414.4_Missense_Mutation_p.T1560I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T1483I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T1599I NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1599 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATTGGTCTGAGTACCCATTGG 0.403000 12 38 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G T rs28934573 TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr17:7577559G>T ENST00000420246.2 - 7 854 c.722C>A c.(721-723)tCc>tAc p.S241Y TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCCATGCAGGAACTGTTACA 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 34 6 6.97489e-18 7.49429e-18 1 1 0 ECSIT 51295 broad.mit.edu 37 19 11624812 11624812 + Missense_Mutation SNP A A C TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr19:11624812A>C ENST00000270517.7 - 3 456 c.321T>G c.(319-321)atT>atG p.I107M ECSIT_ENST00000592312.1_De_novo_Start_InFrame|ECSIT_ENST00000591104.1_Missense_Mutation_p.I107M|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.I107M|ECSIT_ENST00000417981.2_Intron NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 107 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 AGATGAAGTCAATGTGGCCCC 0.602000 66 17 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102054719 102054719 + Silent SNP A A G TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr10:102054719A>G ENST00000318222.3 - 8 1900 c.1518T>C c.(1516-1518)ttT>ttC p.F506F PKD2L1_ENST00000353274.3_Silent_p.F506F|PKD2L1_ENST00000338519.3_Silent_p.F431F NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 506 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TGAAAGTGCTAAAGTTTTCCA 0.542000 13 32 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28264666 28264666 + Missense_Mutation SNP G G C rs115946459 by1000genomes TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr6:28264666G>C ENST00000405948.2 + 5 1136 c.716G>C c.(715-717)cGg>cCg p.R239P PGBD1_ENST00000259883.3_Missense_Mutation_p.R239P NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 239 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity p.R239Q(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 AGTCTGACTCGGAGGAACCTC 0.507000 15 83 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117686852 117686852 + Silent SNP T T A TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr6:117686852T>A ENST00000368508.3 - 19 3063 c.2865A>T c.(2863-2865)tcA>tcT p.S955S GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.S950S NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 955 Fibronectin type-III 4. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CAATCCTAAATGAAGACTCTT 0.388000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 21 4 0 0 1 0 0 FRRS1 391059 broad.mit.edu 37 1 100181217 100181217 + Missense_Mutation SNP C C T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:100181217C>T ENST00000414213.1 - 12 1849 c.1248G>A c.(1246-1248)atG>atA p.M416I FRRS1_ENST00000287474.5_Missense_Mutation_p.M416I Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 416 Cytochrome b561. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) TGAACATGAGCATCCGATGCA 0.418000 16 16 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122247220 122247220 + Silent SNP A A T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr3:122247220A>T ENST00000360356.2 - 11 2783 c.2556T>A c.(2554-2556)ccT>ccA p.P852P PARP9_ENST00000477522.2_Silent_p.P817P|PARP9_ENST00000471785.1_Silent_p.P817P|PARP9_ENST00000492382.1_Silent_p.P397P NM_001146102.1|NM_031458.2 NP_001139574.1|NP_113646.2 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 852 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) ATTAATCAACAGGGCTGCCAC 0.453000 28 48 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 692 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 9 325 --- --- --- --- ZBTB7B 51043 broad.mit.edu 37 1 154987310 154987312 + In_Frame_Del DEL CTT CTT - TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:154987310_154987312delCTT ENST00000368426.3 + 3 311_313 c.174_176delCTT c.(172-177)tac>ta p.YF58del ZBTB7B_ENST00000292176.2_In_Frame_Del_p.YF58del|ZBTB7B_ENST00000417934.2_In_Frame_Del_p.YF92del|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_In_Frame_Del_p.YF58del NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 58 BTB. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTAGCCACTACTTCAAGAAGCTT 0.650 232 51 --- --- --- --- KIF14 9928 broad.mit.edu 37 1 200522651 200522653 + In_Frame_Del DEL TTC TTC - TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr1:200522651_200522653delTTC ENST00000367350.4 - 30 5248_5250 c.4810_4812delGAA c.(4810-4812)del p.E1604del NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1604 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 ATTGTTGGTGTTCTTCTTTGGTA 0.419 13 29 --- --- --- --- AC012363.13 0 broad.mit.edu 37 2 121080891 121080893 + RNA DEL CCT CCT - rs138298647 by1000genomes TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr2:121080891_121080893delCCT ENST00000437837.1 + 0 132 CTGCCTCCCCCCTCCTCCTCCTC 0.542 3 6 --- --- --- --- GNAI2 2771 broad.mit.edu 37 3 50290582 50290582 + Frame_Shift_Del DEL T T - TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr3:50290582delT ENST00000313601.6 + 4 814 c.430delT c.(430-432)cafs p.S144fs GNAI2_ENST00000422163.1_Frame_Shift_Del_p.S128fs|GNAI2_ENST00000451956.1_Frame_Shift_Del_p.S107fs|GNAI2_ENST00000440628.1_Frame_Shift_Del_p.S92fs|GNAI2_ENST00000536647.1_Frame_Shift_Del_p.S63fs|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Frame_Shift_Del_p.S128fs NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 144 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) CTTTGGCCGCTCAAGGGAATA 0.657 13 232 --- --- --- --- ALG1L2 0 broad.mit.edu 37 3 129816899 129816900 + RNA INS - - ATG TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr3:129816899_129816900insATG ENST00000507643.1 + 0 647 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups TTCCAGAAAGCATGTCAAGATG 0.589 3 4 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589632 67589643 + In_Frame_Del DEL ATTATATGAAGA ATTATATGAAGA - TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr5:67589632_67589643delATTATATGAAGA ENST00000521381.1 + 11 2011_2022 c.1395_1406delATTATATGAAGA c.(1393-1407)aga>ag p.RLYEE465del PIK3R1_ENST00000396611.1_In_Frame_Del_p.RLYEE465del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.RLYEE102del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.RLYEE195del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.RLYEE465del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.RLYEE165del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.RLYEE465del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 465 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.Y463_L466del(1)|p.D434_Q475del(1)|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) AATATGATAGATTATATGAAGAATATACCCGC 0.288 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 19 26 --- --- --- --- ARAP1 116985 broad.mit.edu 37 11 72425328 72425328 + Frame_Shift_Del DEL A A - TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr11:72425328delA ENST00000359373.5 - 4 1399 c.548delT c.(547-549)tafs p.L183fs ARAP1_ENST00000455638.2_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000334211.8_5'UTR Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 183 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 AGGGGATGATAATGATGGCAG 0.592 2 4 --- --- --- --- ACSS3 79611 broad.mit.edu 37 12 81471942 81471942 + Frame_Shift_Del DEL G G - TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr12:81471942delG ENST00000548058.1 + 1 953 c.43delG c.(43-45)ggfs p.G16fs ACSS3_ENST00000261206.3_Frame_Shift_Del_p.G16fs Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 16 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CACCAGCGCCGGGGGGCTCGG 0.697 2 4 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 4 4 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25438450 25438451 + RNA INS - - TGG TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr15:25438450_25438451insTGG ENST00000424208.1 + 0 1309_1310 SNHG14_ENST00000414175.1_RNA NR_003305.1 ATGCGCCGGGAAGGACGTGCCC 0.545 16 493 --- --- --- --- PRSS29P 0 broad.mit.edu 37 16 1311513 1311514 + RNA INS - - GGCA rs5815085 by1000genomes TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr16:1311513_1311514insGGCA ENST00000568091.1 - 0 1353 GGTGGGAGCAGGGCAGGCAGGC 0.708 3 5 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81183625 81183625 + RNA DEL T T - rs11296516 TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr16:81183625delT ENST00000525539.1 - 0 4553 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTGTTCACACttttttttttt 0.468 2 4 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89351717 89351728 + In_Frame_Del DEL CGACGTGTCTGA CGACGTGTCTGA - TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr16:89351717_89351728delCGACGTGTCTGA ENST00000301030.4 - 9 1682_1693 c.1222_1233delTCAGACACGTCG c.(1222-1233)del p.SDTS408del ANKRD11_ENST00000378330.2_In_Frame_Del_p.SDTS408del NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 408 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCTCCTCGTCCGACGTGTCTGACAGGATACGA 0.462 22 33 --- --- --- --- RP11-53I6.2 0 broad.mit.edu 37 18 29656287 29656288 + RNA INS - - T TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr18:29656287_29656288insT ENST00000583184.1 + 0 539 ttgtttttttgttttttttttg 0.441 3 6 --- --- --- --- ATF5 22809 broad.mit.edu 37 19 50436066 50436068 + In_Frame_Del DEL CTT CTT - TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr19:50436066_50436068delCTT ENST00000423777.2 + 3 943_945 c.566_568delCTT c.(565-570)cct>c p.PS189del ATF5_ENST00000595125.1_In_Frame_Del_p.PS189del|CTC-326K19.6_ENST00000451973.1_Intron NM_001193646.1 NP_001180575.1 Q9Y2D1 ATF5_HUMAN activating transcription factor 5 189 Interaction with PTP4A1 (By similarity).|Poly-Pro. regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CCCCCTCCTCCTTCTCCACCTCA 0.640 11 18 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55816083 55816083 + Frame_Shift_Del DEL C C - TCGA-QN-A5NN-01A-11D-A28R-08 TCGA-QN-A5NN-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcd4890-6e74-475f-aa72-07c9da4ee26d 4ebb48b7-7795-477b-86b2-85ad659c3abe g.chr19:55816083delC ENST00000309383.1 + 14 1789 c.1512delC c.(1510-1512)ggfs p.G504fs BRSK1_ENST00000590333.1_Frame_Shift_Del_p.G520fs|BRSK1_ENST00000326848.7_Frame_Shift_Del_p.G199fs|BRSK1_ENST00000588584.1_3'UTR NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 504 Pro-rich. 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 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) CCCTGCCCGGCCCCCCAGGCT 0.771 3 3 --- --- --- ---