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 IFT172 26160 broad.mit.edu 37 2 27679435 27679435 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:27679435C>G ENST00000260570.3 - 30 3417 c.3314G>C c.(3313-3315)aGa>aCa p.R1105T NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1105 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) ATTAAGCAGTCTAACTGCAGC 0.567000 15 141 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100327208 100327208 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:100327208G>A ENST00000294724.4 + 3 710 c.232G>A c.(232-234)Gat>Aat p.D78N AGL_ENST00000361915.3_Missense_Mutation_p.D78N|AGL_ENST00000370165.3_Missense_Mutation_p.D78N|AGL_ENST00000370163.3_Missense_Mutation_p.D78N|AGL_ENST00000370161.2_Missense_Mutation_p.D62N|AGL_ENST00000361522.4_Missense_Mutation_p.D61N|AGL_ENST00000361302.3_Missense_Mutation_p.D62N NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 78 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) AGATGATTCTGATAAATACTG 0.323000 16 87 0 0 1 0 0 SULT1C4 27233 broad.mit.edu 37 2 108994907 108994907 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:108994907C>T ENST00000272452.2 + 1 440 c.114C>T c.(112-114)atC>atT p.I38I SULT1C4_ENST00000409309.3_Silent_p.I38I NM_006588.2 NP_006579.2 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 4 38 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GGGATAAGATCTGGAACTTCC 0.468000 59 195 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603503 111603503 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:111603503C>T ENST00000431670.2 + 2 990 c.579C>T c.(577-579)atC>atT p.I193I PHLDB2_ENST00000478922.1_Silent_p.I193I|PHLDB2_ENST00000481953.1_Silent_p.I193I|PHLDB2_ENST00000393925.3_Silent_p.I193I|PHLDB2_ENST00000477695.1_Silent_p.I193I|PHLDB2_ENST00000393923.3_Silent_p.I220I|PHLDB2_ENST00000412622.1_Silent_p.I193I NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 193 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CGCCTCCTATCAGCAGATCGG 0.557000 7 65 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 4 101 0.00909568 0.00925957 1 1 0 SNX19 399979 broad.mit.edu 37 11 130750519 130750519 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:130750519G>A ENST00000265909.4 - 9 3325 c.2756C>T c.(2755-2757)cCa>cTa p.P919L SNX19_ENST00000534726.1_Missense_Mutation_p.P159L|SNX19_ENST00000539184.1_Missense_Mutation_p.P362L|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Missense_Mutation_p.P159L|SNX19_ENST00000426933.2_Missense_Mutation_p.P87L|SNX19_ENST00000528555.1_Missense_Mutation_p.P299L|SNX19_ENST00000530356.1_Missense_Mutation_p.P299L NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 919 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CCAATTACCTGGGAGGACTCC 0.493000 6 351 0 0 1 0 0 SNHG7 84973 broad.mit.edu 37 9 139621221 139621221 + RNA SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:139621221C>T ENST00000414282.1 - 0 345 SNHG7_ENST00000391185.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA ATCAAACATTCAAACGTTCAC 0.527000 OREG0019621 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 45 0 0 1 0 0 CD300LG 146894 broad.mit.edu 37 17 41931336 41931336 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:41931336C>T ENST00000317310.4 + 4 684 c.643C>T c.(643-645)Cgc>Tgc p.R215C CD300LG_ENST00000586233.1_Missense_Mutation_p.R130C|CD300LG_ENST00000377203.4_Missense_Mutation_p.R181C|CD300LG_ENST00000293396.8_Missense_Mutation_p.R130C|CD300LG_ENST00000539718.1_Missense_Mutation_p.R215C NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 215 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) AGGGAGCTCCCGCCCCCCCAT 0.627000 28 61 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58944982 58944982 + Missense_Mutation SNP C C T rs148462540 by1000genomes TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:58944982C>T ENST00000254166.3 - 3 2229 c.1829G>A c.(1828-1830)cGa>cAa p.R610Q NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 610 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GCTGGATTTTCGGCTAAAGAA 0.423000 37 162 0 0 1 0 0 AP3B1 8546 broad.mit.edu 37 5 77385268 77385268 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:77385268C>G ENST00000255194.6 - 22 2701 c.2526G>C c.(2524-2526)ttG>ttC p.L842F AP3B1_ENST00000519295.1_Missense_Mutation_p.L793F NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 842 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GATCAGCCATCAAACTTGGAG 0.398000 Hermansky-Pudlak syndrome 10 118 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107040796 107040796 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:107040796C>T ENST00000409886.3 - 20 3714 c.3627G>A c.(3625-3627)ttG>ttA p.L1209L RGPD3_ENST00000304514.7_Silent_p.L1209L NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1209 intracellular transport binding p.L1209F(2) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GATCATTTGTCAAAAATGTTT 0.408000 65 198 0 0 1 0 0 LRRC4 64101 broad.mit.edu 37 7 127669962 127669962 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:127669962G>A ENST00000249363.3 - 2 989 c.732C>T c.(730-732)ctC>ctT p.L244L SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 244 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) AGAGCTTCTTGAGGGAGCTCA 0.572000 16 73 0 0 1 0 0 GPR160 26996 broad.mit.edu 37 3 169802552 169802552 + Missense_Mutation SNP A A T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:169802552A>T ENST00000355897.5 + 4 1400 c.792A>T c.(790-792)ttA>ttT p.L264F NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 264 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TCATTGTTTTACTTAAAGTTC 0.318000 25 59 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457470 45457470 + RNA SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:45457470G>C ENST00000548424.1 + 0 448 AAAGGCATTTGAGTTTTCAGT 0.483000 4 27 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31385001 31385001 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:31385001C>T ENST00000328111.2 + 14 1707 c.1386C>T c.(1384-1386)ttC>ttT p.F462F DNMT3B_ENST00000201963.3_Silent_p.F454F|DNMT3B_ENST00000443239.3_Silent_p.F400F|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000353855.2_Silent_p.F442F|DNMT3B_ENST00000344505.4_Silent_p.F442F|DNMT3B_ENST00000456297.2_Silent_p.F366F|DNMT3B_ENST00000348286.2_Silent_p.F442F NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 462 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGGATCGCTTCCTTGAGCTGT 0.562000 23 120 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38213416 38213416 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr13:38213416C>G ENST00000379705.3 - 9 2957 c.2100G>C c.(2098-2100)ttG>ttC p.L700F TRPC4_ENST00000358477.2_Missense_Mutation_p.L700F|TRPC4_ENST00000379679.1_Missense_Mutation_p.L527F|TRPC4_ENST00000447043.1_Missense_Mutation_p.L700F|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.L527F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L635F|TRPC4_ENST00000355779.2_Missense_Mutation_p.L700F|TRPC4_ENST00000379681.3_Missense_Mutation_p.L705F Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 700 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GATGTCTTCTCAAGTTATCAG 0.338000 33 113 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33560264 33560264 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:33560264C>T ENST00000228567.3 - 3 833 c.537G>A c.(535-537)ccG>ccA p.P179P SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 179 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GCATTTGCCTCGGCAGGTGTC 0.428000 32 127 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 121013751 121013751 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:121013751C>T ENST00000325954.4 + 16 2818 c.2357C>T c.(2356-2358)tCt>tTt p.S786F RNF10_ENST00000542701.1_3'UTR|RNF10_ENST00000413266.2_Missense_Mutation_p.S791F NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 786 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GATCCCCTCTCTGGTAAGGGC 0.502000 37 162 0 0 1 0 0 SMYD4 114826 broad.mit.edu 37 17 1686771 1686771 + Splice_Site SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:1686771C>G ENST00000305513.7 - 9 2188 c.e9-1 NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 ACAGCTCGCTCTGTCAATGCA 0.592000 6 10 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32138464 32138464 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:32138464G>A ENST00000312561.4 + 4 4989 c.4575G>A c.(4573-4575)caG>caA p.Q1525Q KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 ACCATTCTCAGGAGTCTAAAA 0.363000 8 49 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79294070 79294070 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:79294070C>T ENST00000419573.3 - 17 2831 c.2557G>A c.(2557-2559)Gat>Aat p.D853N RASGRF1_ENST00000394745.3_Missense_Mutation_p.D69N|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.D837N NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 855 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GTTTCAGTATCACCATCATCA 0.338000 27 127 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49473872 49473872 + Silent SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:49473872C>G ENST00000323798.3 - 14 1936 c.1740G>C c.(1738-1740)cgG>cgC p.R580R GYS1_ENST00000544287.1_Silent_p.R213R|GYS1_ENST00000541188.1_Silent_p.R500R|GYS1_ENST00000263276.6_Silent_p.R516R NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 580 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TGATACGCTGCCGCCGGCTCT 0.597000 OREG0025611 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 52 0 0 1 0 0 PIAS2 9063 broad.mit.edu 37 18 44435364 44435364 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr18:44435364C>A ENST00000585916.1 - 5 669 c.670G>T c.(670-672)Gat>Tat p.D224Y PIAS2_ENST00000545673.1_5'UTR|PIAS2_ENST00000324794.7_Missense_Mutation_p.D224Y NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 224 PINIT. androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 GGATAGTTATCTTCTTGAGGG 0.299000 19 108 5.35356e-11 5.91158e-11 1 1 0 AMBRA1 55626 broad.mit.edu 37 11 46563784 46563784 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:46563784C>T ENST00000458649.2 - 7 2201 c.1783G>A c.(1783-1785)Gag>Aag p.E595K AMBRA1_ENST00000298834.3_Missense_Mutation_p.E595K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E595K|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E595K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E505K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E595K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E505K Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 595 Ser-rich. autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GAACTAGCCTCGCCAGAGGAG 0.587000 3 41 0 0 1 0 0 MNT 4335 broad.mit.edu 37 17 2297373 2297373 + Silent SNP A A G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:2297373A>G ENST00000174618.4 - 4 1176 c.771T>C c.(769-771)aaT>aaC p.N257N NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 257 Helix-loop-helix motif. multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) GCACGCTCAGATTGGACGTCT 0.677000 28 70 0 0 1 0 0 FAM181A 90050 broad.mit.edu 37 14 94395253 94395253 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr14:94395253G>A ENST00000267594.5 + 3 1115 c.808G>A c.(808-810)Gtc>Atc p.V270I FAM181A_ENST00000557000.2_Missense_Mutation_p.V208I|FAM181A_ENST00000556222.1_Missense_Mutation_p.V208I|FAM181A_ENST00000557719.1_Missense_Mutation_p.V208I NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 270 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GGTGGGCCGCGTCAATGCCTG 0.652000 3 32 0 0 1 0 0 MFAP1 4236 broad.mit.edu 37 15 44105285 44105285 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:44105285C>A ENST00000267812.3 - 6 1019 c.787G>T c.(787-789)Gat>Tat p.D263Y NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 263 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) TTGAGTGCATCCAATGCAGCC 0.438000 13 322 1.5842e-08 1.72129e-08 1 1 0 RBM4B 83759 broad.mit.edu 37 11 66444488 66444488 + Silent SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:66444488G>C ENST00000525754.1 - 1 731 c.63C>G c.(61-63)ctC>ctG p.L21L RBM4B_ENST00000531969.1_Silent_p.L21L|RBM4B_ENST00000531036.2_Silent_p.L21L|RBM4B_ENST00000310046.4_Silent_p.L21L|RBM4B_ENST00000524637.1_Silent_p.L21L Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 21 RRM 1. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 ACTGCTCGAAGAGTGAGCGAA 0.502000 24 99 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55340491 55340491 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:55340491G>C ENST00000314634.3 + 1 888 c.888G>C c.(886-888)atG>atC p.M296I NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) AAAGTGCCATGAGGAAGCTTT 0.363000 8 22 0 0 1 0 0 GNAI1 2770 broad.mit.edu 37 7 79828601 79828601 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:79828601G>A ENST00000351004.3 + 4 737 c.364G>A c.(364-366)Gaa>Aaa p.E122K GNAI1_ENST00000457358.2_Missense_Mutation_p.E70K NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 122 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 TATGACTGCAGAACTTGCTGG 0.418000 21 92 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9322029 9322029 + Silent SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:9322029G>C ENST00000261336.2 - 16 2026 c.1998C>G c.(1996-1998)ctC>ctG p.L666L PZP_ENST00000381997.2_Silent_p.L535L NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ATTTTACCTTGAGGAAGCTAT 0.348000 11 57 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42808970 42808970 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr21:42808970G>A ENST00000398600.2 + 9 1352 c.327G>A c.(325-327)ctG>ctA p.L109L MX1_ENST00000398598.3_Silent_p.L109L|MX1_ENST00000288383.6_Silent_p.L86L|MX1_ENST00000455164.2_Silent_p.L109L NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 109 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) CGCTGGTGCTGAAACTGAAGA 0.498000 11 63 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 332217 332217 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:332217C>G ENST00000280886.6 - 34 4202 c.4115G>C c.(4114-4116)gGa>gCa p.G1372A NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1372 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) ACTCACCTCTCCAAGGTGTGA 0.483000 66 234 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42812945 42812945 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr21:42812945G>C ENST00000398600.2 + 11 1748 c.723G>C c.(721-723)agG>agC p.R241S MX1_ENST00000398598.3_Missense_Mutation_p.R241S|MX1_ENST00000288383.6_Missense_Mutation_p.R218S|MX1_ENST00000455164.2_Missense_Mutation_p.R241S NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 241 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) AGGGAGACAGGACCATCGGTG 0.642000 13 101 0 0 1 0 0 SLC35F2 54733 broad.mit.edu 37 11 107663347 107663347 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:107663347G>A ENST00000525815.1 - 8 1539 c.1119C>T c.(1117-1119)gtC>gtT p.V373V SLC35F2_ENST00000429869.1_Silent_p.V373V|SLC35F2_ENST00000265836.7_Silent_p.V225V|SLC35F2_ENST00000525071.1_3'UTR|SLC35F2_ENST00000375682.4_Silent_p.V326V NM_017515.4 NP_059985.2 Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 373 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CCAGCTACAAGACAGCAGAGT 0.587000 7 52 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47320913 47320913 + Missense_Mutation SNP T T A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr21:47320913T>A ENST00000400314.1 + 7 563 c.225T>A c.(223-225)agT>agA p.S75R PCBP3_ENST00000400304.1_Missense_Mutation_p.S43R|PCBP3_ENST00000400308.1_Missense_Mutation_p.S75R|PCBP3_ENST00000400309.1_Missense_Mutation_p.S75R|PCBP3_ENST00000400310.1_Missense_Mutation_p.S75R|PCBP3_ENST00000449640.1_Missense_Mutation_p.S75R P57721 PCBP3_HUMAN poly(rC) binding protein 3 75 KH 1. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CACCTTAGAGTGGTGCAAGGA 0.542000 12 91 0 0 1 0 0 LPCAT4 254531 broad.mit.edu 37 15 34657815 34657815 + Nonsense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:34657815G>A ENST00000314891.6 - 2 379 c.202C>T c.(202-204)Caa>Taa p.Q68* LPCAT4_ENST00000562431.1_5'UTR NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 68 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 CCGGCCACTTGAAGCCAGGCA 0.577000 17 66 0 0 1 0 0 SSTR5 6755 broad.mit.edu 37 16 1129595 1129595 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:1129595G>C ENST00000293897.4 + 1 815 c.727G>C c.(727-729)Gag>Cag p.E243Q SSTR5_ENST00000397547.2_Missense_Mutation_p.E243Q|SSTR5_ENST00000562758.1_Intron NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 243 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) GCGGCGCTCGGAGCGGAAGGT 0.662000 6 35 0 0 1 0 0 MOCS2 4338 broad.mit.edu 37 5 52403032 52403032 + Nonsense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:52403032G>A ENST00000361377.4 - 3 201 c.160C>T c.(160-162)Cag>Tag p.Q54* MOCS2_ENST00000450852.3_Nonsense_Mutation_p.Q54*|MOCS2_ENST00000584946.1_Nonsense_Mutation_p.Q54*|MOCS2_ENST00000582677.1_Nonsense_Mutation_p.Q54*|MOCS2_ENST00000510818.2_Nonsense_Mutation_p.Q54*|MOCS2_ENST00000508922.1_Nonsense_Mutation_p.Q54*|MOCS2_ENST00000396954.3_5'UTR O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 54 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) AATATTATCTGATTTCTAACA 0.418000 5 26 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83352825 83352825 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chrX:83352825C>T ENST00000262752.2 - 19 1815 c.1808G>A c.(1807-1809)tGt>tAt p.C603Y RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.C603Y NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 603 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CCAGATATCACAAGCAGCATC 0.313000 5 121 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82333670 82333670 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:82333670G>A ENST00000376520.4 + 16 2298 c.1470G>A c.(1468-1470)caG>caA p.Q490Q TLE4_ENST00000376537.4_Silent_p.Q490Q|TLE4_ENST00000376534.4_Silent_p.Q95Q|TLE4_ENST00000376544.3_Silent_p.Q389Q|TLE4_ENST00000265284.6_Silent_p.Q433Q|TLE4_ENST00000376552.2_Silent_p.Q458Q O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CAGATGGTCAGATGCAGCCTG 0.522000 16 60 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79350718 79350718 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:79350718C>A ENST00000419573.3 - 3 763 c.489G>T c.(487-489)caG>caT p.Q163H RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q163H NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 163 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.Q163H(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CATCCTCGATCTGCTGCCGAA 0.612000 30 118 1.45844e-13 1.63171e-13 1 1 0 WNT3A 89780 broad.mit.edu 37 1 228246937 228246937 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:228246937C>T ENST00000284523.1 + 4 908 c.830C>T c.(829-831)tCg>tTg p.S277L WNT3A_ENST00000366753.2_Missense_Mutation_p.S277L NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 277 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) TACGAGGCCTCGCCCAACTTC 0.687000 10 16 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26902337 26902337 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr22:26902337C>A ENST00000407690.1 - 6 735 c.452G>T c.(451-453)gGa>gTa p.G151V TFIP11_ENST00000405938.1_Missense_Mutation_p.G151V|TFIP11_ENST00000407431.1_Missense_Mutation_p.G151V|TFIP11_ENST00000407148.1_Missense_Mutation_p.G151V NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 151 G-patch. biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CTGTCCAATTCCTTTTGTGTG 0.493000 21 96 1.10513e-12 1.22833e-12 1 1 0 WNT3A 89780 broad.mit.edu 37 1 228246923 228246923 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:228246923C>T ENST00000284523.1 + 4 894 c.816C>T c.(814-816)gtC>gtT p.V272V WNT3A_ENST00000366753.2_Silent_p.V272V NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 272 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GCGACCTGGTCTACTACGAGG 0.682000 10 17 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56208071 56208071 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:56208071G>A ENST00000508342.1 - 1 1258 c.959C>T c.(958-960)tCa>tTa p.S320L NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.S320L|NEDD4_ENST00000506154.1_Missense_Mutation_p.S320L P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 320 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GACAGCTGTTGAAAGAAATCC 0.418000 21 118 0 0 1 0 0 FOSL2 2355 broad.mit.edu 37 2 28635106 28635106 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:28635106G>C ENST00000264716.4 + 4 1635 c.772G>C c.(772-774)Gag>Cag p.E258Q FOSL2_ENST00000545753.1_Missense_Mutation_p.E219Q|FOSL2_ENST00000379619.1_Missense_Mutation_p.E250Q NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 258 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) CTTCTACGGTGAGGAGCCCCT 0.647000 14 58 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62995024 62995024 + Silent SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:62995024G>C ENST00000561311.1 + 18 2195 c.1965G>C c.(1963-1965)ctG>ctC p.L655L TLN2_ENST00000306829.6_Silent_p.L655L Q9Y4G6 TLN2_HUMAN talin 2 655 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GGGATCTTCTGAGACAGATTG 0.463000 34 130 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 118 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33448722 33448722 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:33448722C>A ENST00000265112.3 + 3 525 c.214C>A c.(214-216)Ctg>Atg p.L72M TARS_ENST00000541634.1_Intron|TARS_ENST00000502553.1_Missense_Mutation_p.L72M|TARS_ENST00000455217.2_Missense_Mutation_p.L72M|TARS_ENST00000414361.2_Missense_Mutation_p.F4L NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 72 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) TGATTCCATTCTGGCAGAAAA 0.368000 19 90 5.35267e-07 5.76049e-07 1 1 0 LRP2 4036 broad.mit.edu 37 2 170012841 170012841 + Missense_Mutation SNP A A G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:170012841A>G ENST00000263816.3 - 65 12379 c.12094T>C c.(12094-12096)Tgt>Cgt p.C4032R NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4032 EGF-like 15; calcium-binding (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCATCAGCACAGACACACTCA 0.433000 36 136 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31683046 31683046 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:31683046C>A ENST00000319386.3 + 11 2611 c.1618C>A c.(1618-1620)Cta>Ata p.L540I CCDC129_ENST00000409210.1_Missense_Mutation_p.L596I|CCDC129_ENST00000407970.3_Missense_Mutation_p.L688I|CCDC129_ENST00000451887.2_Missense_Mutation_p.L714I Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 688 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GGGTCAGATACTACCTGGGAC 0.512000 12 49 6.40141e-05 6.67716e-05 1 1 0 TCEB3C 162699 broad.mit.edu 37 18 44555158 44555158 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr18:44555158G>A ENST00000330682.2 - 1 1291 c.1056C>T c.(1054-1056)ctC>ctT p.L352L KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 352 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding p.L352L(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CCACGTCGCCGAGGGCGTCCG 0.652000 13 460 0 0 1 0 0 FOSL2 2355 broad.mit.edu 37 2 28635135 28635135 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:28635135G>A ENST00000264716.4 + 4 1664 c.801G>A c.(799-801)gtG>gtA p.V267V FOSL2_ENST00000545753.1_Silent_p.V228V|FOSL2_ENST00000379619.1_Silent_p.V259V NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 267 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) CCATCGTGGTGACCTCCACAC 0.637000 18 65 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578443 7578443 + Missense_Mutation SNP A A C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:7578443A>C ENST00000420246.2 - 5 619 c.487T>G c.(487-489)Tac>Gac p.Y163D TP53_ENST00000455263.2_Missense_Mutation_p.Y163D|TP53_ENST00000269305.4_Missense_Mutation_p.Y163D|TP53_ENST00000413465.2_Missense_Mutation_p.Y163D|TP53_ENST00000445888.2_Missense_Mutation_p.Y163D|TP53_ENST00000359597.4_Missense_Mutation_p.Y163D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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) GACTGCTTGTAGATGGCCATG 0.622000 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) 15 65 0 0 1 0 0 NOL7 51406 broad.mit.edu 37 6 13620487 13620487 + Missense_Mutation SNP G G A rs146992026 by1000genomes TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr6:13620487G>A ENST00000451315.2 + 6 580 c.548G>A c.(547-549)aGa>aAa p.R183K AL441883.1_ENST00000600057.1_Missense_Mutation_p.L97F|NOL7_ENST00000474485.1_3'UTR NM_016167.3 NP_057251.2 Q9UMY1 NOL7_HUMAN nucleolar protein 7, 27kDa 183 mitochondrion|nucleolus breast(1)|large_intestine(3)|lung(1) 5 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.135) Epithelial(50;0.176) CAAGATCTGAGAGATTCAAGG 0.353000 20 88 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116930895 116930895 + Nonsense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:116930895C>T ENST00000356083.3 + 3 1451 c.1060C>T c.(1060-1062)Caa>Taa p.Q354* NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 354 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TGCGGCCGCTCAACCATCACA 0.587000 18 54 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675543 100675543 + Silent SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:100675543C>A ENST00000306151.4 + 3 910 c.846C>A c.(844-846)ctC>ctA p.L282L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 282 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAATGCCTCTCAGCGTGATGC 0.502000 129 227 5.40711e-61 6.17175e-61 1 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 79 0 0 1 0 0 SPRR3 6707 broad.mit.edu 37 1 152975541 152975541 + Missense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:152975541G>T ENST00000331860.3 + 3 195 c.45G>T c.(43-45)caG>caT p.Q15H SPRR3_ENST00000542696.1_Missense_Mutation_p.Q15H|SPRR3_ENST00000295367.4_Missense_Mutation_p.Q15H NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 15 keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACCACCTCAGCTTCAACAGC 0.488000 18 77 4.35082e-09 4.74253e-09 1 1 0 METTL23 124512 broad.mit.edu 37 17 74729630 74729630 + Silent SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:74729630C>G ENST00000341249.6 + 5 767 c.435C>G c.(433-435)ctC>ctG p.L145L METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000590964.1_Silent_p.L78L|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000588822.1_Silent_p.L78L|METTL23_ENST00000588302.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000586752.1_Silent_p.L78L|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000586200.1_Silent_p.L26L NM_001206984.1 NP_001193913.1 Q86XA0 MET23_HUMAN methyltransferase like 23 145 integral to membrane methyltransferase activity large_intestine(2)|lung(1) 3 AAGCTTTACTCTACAAATGGG 0.348000 142 234 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92765007 92765007 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:92765007G>A ENST00000318238.4 - 5 1494 c.278C>T c.(277-279)tCa>tTa p.S93L SAMD9L_ENST00000411955.1_Missense_Mutation_p.S93L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S93L NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 93 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GGACGGTTTTGAATTATCTAA 0.363000 27 197 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1045163 1045163 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:1045163G>C ENST00000263094.6 + 12 1609 c.1378G>C c.(1378-1380)Ggc>Cgc p.G460R ABCA7_ENST00000435683.2_Missense_Mutation_p.G322R|ABCA7_ENST00000433129.1_Missense_Mutation_p.G460R NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 460 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGGCCCCGGCCACGTGCG 0.627000 24 79 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72111650 72111650 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr8:72111650C>T ENST00000340726.3 - 18 2343 c.1704G>A c.(1702-1704)gcG>gcA p.A568A EYA1_ENST00000419131.1_Silent_p.A533A|EYA1_ENST00000388742.4_Silent_p.A568A|EYA1_ENST00000388740.3_Silent_p.A535A|EYA1_ENST00000303824.7_Silent_p.A562A|EYA1_ENST00000388743.2_Silent_p.A567A|EYA1_ENST00000388741.2_Silent_p.A534A|RP11-326E22.1_ENST00000521685.1_RNA NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 568 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AGAAGGGCATCGCGTGCTGCA 0.582000 5 20 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589697 140589697 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:140589697G>C ENST00000239450.2 + 1 1407 c.1218G>C c.(1216-1218)gaG>gaC p.E406D PCDHB12_ENST00000541609.1_Missense_Mutation_p.E69D NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 406 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGAAACAGAGAGACCGCTGG 0.502000 6 50 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23687272 23687272 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:23687272C>T ENST00000546136.1 - 14 2136 c.2134G>A c.(2134-2136)Gag>Aag p.E712K SOX5_ENST00000541536.1_Missense_Mutation_p.E604K|SOX5_ENST00000396007.2_Missense_Mutation_p.E339K|SOX5_ENST00000545921.1_Missense_Mutation_p.E715K|SOX5_ENST00000381381.2_Missense_Mutation_p.E604K|SOX5_ENST00000309359.1_Missense_Mutation_p.E712K|SOX5_ENST00000451604.2_Missense_Mutation_p.E725K|SOX5_ENST00000537393.1_Missense_Mutation_p.E690K P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 725 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 GCCTGTATCTCTTCTTTGATA 0.488000 28 115 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310245 57310245 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:57310245G>A ENST00000457912.1 + 2 184 c.184G>A c.(184-186)Gag>Aag p.E62K SMTNL1_ENST00000399154.2_Missense_Mutation_p.E44K|SMTNL1_ENST00000527972.1_Missense_Mutation_p.E44K E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 44 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GGCCATCAATGAGGGGCCTCC 0.587000 4 24 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 111903 111903 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:111903C>T ENST00000262316.6 - 8 1243 c.1101G>A c.(1099-1101)gaG>gaA p.E367E RHBDF1_ENST00000454039.2_Silent_p.E367E NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 367 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) ACGGCCGCTTCTCCCGGGCGA 0.697000 14 25 0 0 1 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124203189 124203189 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:124203189C>G ENST00000330342.3 + 2 385 c.137C>G c.(136-138)tCt>tGt p.S46C NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 46 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) AACGTAAGTTCTTTCCAAAGA 0.284000 23 91 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57494928 57494928 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:57494928G>A ENST00000351747.2 - 6 661 c.481C>T c.(481-483)Ctt>Ttt p.L161F DNAH12_ENST00000311202.6_Missense_Mutation_p.L161F|DNAH12_ENST00000389536.4_Missense_Mutation_p.L161F NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 161 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 GGTTTCACAAGAACGCTCTGC 0.323000 4 87 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129520242 129520242 + Silent SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:129520242G>C ENST00000305031.4 + 3 1765 c.1407G>C c.(1405-1407)ctG>ctC p.L469L NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 469 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) GGGAGTTCCTGACAGGGAAGC 0.502000 3 38 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37422886 37422886 + Missense_Mutation SNP A A G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:37422886A>G ENST00000374660.1 + 5 591 c.492A>G c.(490-492)atA>atG p.I164M ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I164M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I164M Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 220 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CATCAGAGATAGTTGGCATGC 0.378000 48 193 0 0 1 0 0 RNF138 51444 broad.mit.edu 37 18 29706662 29706662 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr18:29706662C>A ENST00000261593.3 + 7 1026 c.568C>A c.(568-570)Cct>Act p.P190T RNF138_ENST00000257190.5_Missense_Mutation_p.P96T NM_001191324.1|NM_016271.4 NP_001178253.2|NP_057355.2 Q8WVD3 RN138_HUMAN ring finger protein 138, E3 ubiquitin protein ligase 190 Wnt receptor signaling pathway intracellular ligase activity|protein kinase binding|zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 12 ATAGACATGTCCTATTTGTGT 0.299000 12 107 4.36969e-10 4.8095e-10 1 1 0 ZNF335 63925 broad.mit.edu 37 20 44592630 44592630 + Splice_Site SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:44592630C>T ENST00000322927.2 - 8 1203 c.e8-1 ZNF335_ENST00000426788.1_Splice_Site NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CCTTCCACACCTGCCACGGAC 0.612000 14 70 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135158732 135158732 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:135158732C>T ENST00000372169.2 - 19 6647 c.6465G>A c.(6463-6465)ttG>ttA p.L2155L SETX_ENST00000224140.5_Silent_p.L2155L|SETX_ENST00000393220.1_Silent_p.L2155L Q7Z333 SETX_HUMAN senataxin 2155 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CACTTGTGCTCAACGTGCAGC 0.473000 36 139 0 0 1 0 0 TUBB 203068 broad.mit.edu 37 6 30691701 30691701 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr6:30691701G>A ENST00000396389.1 + 4 1401 c.808G>A c.(808-810)Gaa>Aaa p.E270K TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Missense_Mutation_p.E216K|TUBB_ENST00000327892.8_Missense_Mutation_p.E288K|TUBB_ENST00000396384.1_Missense_Mutation_p.E216K P07437 TBB5_HUMAN tubulin, beta class I 288 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1) 16 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) CACAGTGCCGGAACTCACCCA 0.592000 34 125 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581409 140581409 + Missense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:140581409G>T ENST00000354757.3 + 1 2062 c.2062G>T c.(2062-2064)Gtc>Ttc p.V688F PCDHB11_ENST00000536699.1_Missense_Mutation_p.V323F NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 688 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGCTCACCGTCTACTTGGT 0.692000 6 203 0.248553 0.250028 1 1 0 CSTL1 128817 broad.mit.edu 37 20 23424636 23424636 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:23424636C>A ENST00000347397.1 + 3 531 c.285C>A c.(283-285)gaC>gaA p.D95E CSTL1_ENST00000246020.2_Missense_Mutation_p.D95E NM_138283.1 NP_612140.1 Q9H114 CST1L_HUMAN cystatin-like 1 95 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1) 14 Colorectal(13;0.0993)|Lung NSC(19;0.235) AGAGGAATGACACGAGCAATT 0.468000 21 101 1.2476e-16 1.4051e-16 1 1 0 GAPDHS 26330 broad.mit.edu 37 19 36029287 36029287 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:36029287C>A ENST00000222286.4 + 3 440 c.324C>A c.(322-324)ttC>ttA p.F108L NM_014364.4 NP_055179.1 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 108 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8) 11 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) ATGATCCATTCATTGACCCGG 0.582000 8 45 1.58986e-06 1.68426e-06 1 1 0 CORO2A 7464 broad.mit.edu 37 9 100895494 100895494 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:100895494C>T ENST00000343933.5 - 5 731 c.474G>A c.(472-474)atG>atA p.M158I CORO2A_ENST00000375077.4_Missense_Mutation_p.M158I NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 158 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GGTTCCAGATCATCACCTGCA 0.532000 13 68 0 0 1 0 0 RUVBL2 10856 broad.mit.edu 37 19 49519073 49519073 + Splice_Site SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:49519073G>A ENST00000413176.2 + 15 2379 c.e15-1 RUVBL2_ENST00000595090.1_Splice_Site|RUVBL2_ENST00000601968.1_Splice_Site Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) TCTCCCCACAGAAGGCGAGAC 0.582000 14 66 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39124087 39124087 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:39124087C>G ENST00000331366.5 - 11 892 c.796G>C c.(796-798)Gag>Cag p.E266Q CPNE8_ENST00000360449.3_Missense_Mutation_p.E254Q NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 266 NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) CCTCTTACCTCATATACGTTG 0.308000 38 100 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38237709 38237709 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr13:38237709C>T ENST00000379705.3 - 6 2389 c.1532G>A c.(1531-1533)aGa>aAa p.R511K TRPC4_ENST00000358477.2_Missense_Mutation_p.R511K|TRPC4_ENST00000379679.1_Missense_Mutation_p.R338K|TRPC4_ENST00000447043.1_Missense_Mutation_p.R511K|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.R338K|TRPC4_ENST00000379673.2_Missense_Mutation_p.R511K|TRPC4_ENST00000355779.2_Missense_Mutation_p.R511K|TRPC4_ENST00000379681.3_Missense_Mutation_p.R511K Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 511 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CAGGAGCATTCTTCCCAGAGA 0.393000 19 68 0 0 1 0 0 FCHO2 115548 broad.mit.edu 37 5 72311486 72311486 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:72311486C>T ENST00000430046.2 + 7 750 c.634C>T c.(634-636)Cac>Tac p.H212Y FCHO2_ENST00000341845.6_Missense_Mutation_p.H212Y|FCHO2_ENST00000287761.6_Missense_Mutation_p.H212Y|FCHO2_ENST00000512348.1_Intron NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 212 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) TCATCTCATTCACATAAAGGA 0.284000 5 36 0 0 1 0 0 DUSP10 11221 broad.mit.edu 37 1 221912616 221912616 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:221912616C>G ENST00000366899.3 - 2 709 c.471G>C c.(469-471)aaG>aaC p.K157N DUSP10_ENST00000323825.3_Intron NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 157 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) TGGTCATCTTCTTTGCCAAGT 0.532000 19 88 0 0 1 0 0 ACSL6 23305 broad.mit.edu 37 5 131324548 131324548 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:131324548G>A ENST00000379264.2 - 6 710 c.602C>T c.(601-603)cCg>cTg p.P201L ACSL6_ENST00000543479.1_Missense_Mutation_p.P176L|ACSL6_ENST00000379246.1_Missense_Mutation_p.P187L|ACSL6_ENST00000431707.1_Missense_Mutation_p.P141L|ACSL6_ENST00000357096.1_Missense_Mutation_p.P141L|ACSL6_ENST00000379244.1_Missense_Mutation_p.P176L|ACSL6_ENST00000379255.1_Missense_Mutation_p.P141L|ACSL6_ENST00000379240.1_Missense_Mutation_p.P176L|ACSL6_ENST00000379272.2_Missense_Mutation_p.P176L|ACSL6_ENST00000379249.3_Missense_Mutation_p.P176L|ACSL6_ENST00000296869.4_Missense_Mutation_p.P201L|ACSL6_ENST00000544770.1_Missense_Mutation_p.P85L NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 176 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCATAGAGCGGGACCACCAC 0.597000 45 231 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70890694 70890694 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:70890694C>G ENST00000264436.3 - 16 2488 c.2044G>C c.(2044-2046)Gac>Cac p.D682H ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.D682H NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 682 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TCGGTTTTGTCCTTAGAGGTA 0.562000 67 235 0 0 1 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6955419 6955419 + Silent SNP A A G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chrY:6955419A>G ENST00000383032.1 + 17 2039 c.1392A>G c.(1390-1392)ggA>ggG p.G464G TBL1Y_ENST00000355162.2_Silent_p.G464G|TBL1Y_ENST00000346432.3_Silent_p.G464G NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked 464 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 GCCCCGATGGAAAGTACTTGG 0.473000 5 158 0 0 1 0 0 SLC6A16 28968 broad.mit.edu 37 19 49814595 49814595 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:49814595C>G ENST00000454748.3 - 2 211 c.10G>C c.(10-12)Gag>Cag p.E4Q SLC6A16_ENST00000335875.4_Missense_Mutation_p.E4Q Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 4 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GGCTGGGCCTCTGTCTTCATC 0.527000 32 85 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97984037 97984037 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:97984037C>T ENST00000383696.2 + 1 950 c.909C>T c.(907-909)ccC>ccT p.P303P RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TATTAAATCCCATGATCTACA 0.373000 15 53 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106647213 106647213 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:106647213C>T ENST00000526355.1 - 6 2256 c.1788G>A c.(1786-1788)atG>atA p.M596I GUCY1A2_ENST00000347596.2_Missense_Mutation_p.M617I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.M596I NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 596 Guanylate cyclase. intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AAAGTTCCATCATCTTCAAGG 0.483000 9 31 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201982158 201982158 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:201982158C>G ENST00000359651.3 + 5 3874 c.682C>G c.(682-684)Ccc>Gcc p.P228A ELF3_ENST00000367283.3_Missense_Mutation_p.P228A|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.P228A P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 228 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 CAAGCTCTTCCCCAGCGGTGA 0.637000 9 55 0 0 1 0 0 DYRK4 8798 broad.mit.edu 37 12 4721836 4721836 + Missense_Mutation SNP G G A rs11554758 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:4721836G>A ENST00000540757.2 + 12 1433 c.1273G>A c.(1273-1275)Gag>Aag p.E425K DYRK4_ENST00000543431.1_Missense_Mutation_p.E425K|DYRK4_ENST00000010132.5_Missense_Mutation_p.E425K|DYRK4_ENST00000545342.1_Missense_Mutation_p.E62K NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 425 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) TTTCCCCTCTGAGACAAGGAA 0.512000 31 146 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141499505 141499505 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:141499505C>A ENST00000264952.2 + 2 1039 c.902C>A c.(901-903)gCc>gAc p.A301D NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 301 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 GCCCAGATAGCCTGTGGGATG 0.552000 5 60 5.9392e-07 6.37148e-07 1 1 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 3 66 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44058142 44058142 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:44058142C>T ENST00000359947.4 + 11 2023 c.1683C>T c.(1681-1683)ttC>ttT p.F561F PTPRF_ENST00000422171.2_Silent_p.F20F|PTPRF_ENST00000438120.1_Silent_p.F561F|PTPRF_ENST00000372413.3_Silent_p.F561F|PTPRF_ENST00000372414.3_Silent_p.F561F NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 561 Fibronectin type-III 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGTGACCTTCGACCCAACCT 0.577000 52 170 0 0 1 0 0 BANF2 140836 broad.mit.edu 37 20 17705763 17705763 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:17705763C>T ENST00000246090.5 + 3 355 c.93C>T c.(91-93)ctC>ctT p.L31L BANF2_ENST00000377805.3_Silent_p.L31L|BANF2_ENST00000545418.2_Silent_p.L38L NM_178477.4 NP_848572.3 Q9H503 BAFL_HUMAN barrier to autointegration factor 2 31 cytoplasm|nucleus DNA binding large_intestine(1)|lung(1)|prostate(3)|skin(1) 6 GCCATGAGCTCGCGATCAATT 0.493000 27 124 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502308 140502308 + Missense_Mutation SNP A A T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:140502308A>T ENST00000194152.1 + 1 728 c.728A>T c.(727-729)cAc>cTc p.H243L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 243 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGTTTGTGCACACTCCATAT 0.517000 5 155 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10572350 10572350 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:10572350C>T ENST00000380702.2 + 13 1548 c.1548C>T c.(1546-1548)atC>atT p.I516I PDE4A_ENST00000352831.6_Silent_p.I538I|PDE4A_ENST00000440014.2_Silent_p.I477I|PDE4A_ENST00000592685.1_Silent_p.I516I|PDE4A_ENST00000344979.3_Silent_p.I299I|PDE4A_ENST00000293683.5_Silent_p.I512I P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 538 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) AGATGGTCATCGACATGGTGG 0.632000 25 71 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17437000 17437000 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:17437000C>T ENST00000262545.2 + 10 1424 c.1109C>T c.(1108-1110)aCa>aTa p.T370I PCSK2_ENST00000377899.1_Missense_Mutation_p.T351I|PCSK2_ENST00000536609.1_Missense_Mutation_p.T335I NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 370 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGGCAACCACAGATTTGTAC 0.493000 7 356 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100899883 100899883 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:100899883C>T ENST00000343933.5 - 3 546 c.289G>A c.(289-291)Gag>Aag p.E97K CORO2A_ENST00000375077.4_Missense_Mutation_p.E97K NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 97 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GAGGCGATCTCAAAATCATCA 0.542000 32 121 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31864717 31864717 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr6:31864717C>G ENST00000395728.3 - 1 262 c.263G>C c.(262-264)aGa>aCa p.R88T EHMT2_ENST00000375530.4_Missense_Mutation_p.R31T|EHMT2_ENST00000375537.4_Missense_Mutation_p.R31T|EHMT2_ENST00000375528.4_Missense_Mutation_p.R88T Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 31 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GGTGGCTCCTCTGGTTTCCTT 0.602000 40 171 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94540203 94540203 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:94540203C>T ENST00000289495.5 + 1 994 c.778C>T c.(778-780)Cct>Tct p.P260S PPP1R9A_ENST00000433881.1_Missense_Mutation_p.P260S|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.P260S|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P260S|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P260S|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P260S NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 260 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TTCCTGGCCTCCTTCAAACAA 0.428000 HNSCC(28;0.073) 12 69 0 0 1 0 0 TMEM196 256130 broad.mit.edu 37 7 19765276 19765276 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:19765276G>C ENST00000405844.1 - 3 1015 c.320C>G c.(319-321)tCc>tGc p.S107C TMEM196_ENST00000405764.3_Missense_Mutation_p.S107C|TMEM196_ENST00000493519.1_Missense_Mutation_p.S39C|TMEM196_ENST00000422233.1_Missense_Mutation_p.S39C|TMEM196_ENST00000433641.1_Missense_Mutation_p.S39C Q5HYL7 TM196_HUMAN transmembrane protein 196 113 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 GAGAGACATGGAGGCAAGGTG 0.527000 20 114 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66058398 66058398 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:66058398C>T ENST00000349533.6 + 6 738 c.553C>T c.(553-555)Cac>Tac p.H185Y LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.H185Y|LEPR_ENST00000371058.1_Missense_Mutation_p.H185Y|LEPR_ENST00000371059.3_Missense_Mutation_p.H185Y|LEPR_ENST00000371060.3_Missense_Mutation_p.H185Y NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 185 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TCAGATGGTTCACTGCAATTG 0.388000 23 97 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378593 114378593 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr6:114378593C>G ENST00000312719.5 - 5 2057 c.869G>C c.(868-870)aGa>aCa p.R290T RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R290T|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 290 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GTAAAACCCTCTGGTAGCATT 0.463000 21 59 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42864988 42864988 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:42864988G>A ENST00000334370.4 + 31 5984 c.5349G>A c.(5347-5349)ggG>ggA p.G1783G MEGF8_ENST00000251268.6_Silent_p.G1850G NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1850 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CAGCAGTCGGGAGCCGCCTGT 0.652000 6 8 0 0 1 0 0 SULT1A1 6817 broad.mit.edu 37 16 28619801 28619801 + Nonsense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:28619801G>C ENST00000395609.1 - 5 1030 c.272C>G c.(271-273)tCa>tGa p.S91* SULT1A1_ENST00000395607.1_Nonsense_Mutation_p.S91*|SULT1A1_ENST00000569554.1_Nonsense_Mutation_p.S91*|SULT1A1_ENST00000314752.7_Nonsense_Mutation_p.S91*|SULT1A1_ENST00000350842.4_Intron P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 91 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 TCACACACCTGAGGGAATCCC 0.592000 13 61 0 0 1 0 0 SLC36A1 206358 broad.mit.edu 37 5 150846811 150846811 + Silent SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:150846811C>G ENST00000243389.3 + 6 694 c.471C>G c.(469-471)gtC>gtG p.V157V SLC36A1_ENST00000520701.1_Silent_p.V157V|SLC36A1_ENST00000429484.2_Silent_p.V157V|SLC36A1_ENST00000521925.1_Silent_p.V157V NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 157 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TCTGCTGTGTCTATTTTGTGT 0.403000 19 93 0 0 1 0 0 ETV3 2117 broad.mit.edu 37 1 157106140 157106140 + Missense_Mutation SNP T T G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:157106140T>G ENST00000368192.4 - 2 69 c.5A>C c.(4-6)aAa>aCa p.K2T ETV3_ENST00000326786.4_Missense_Mutation_p.K2T|ETV3_ENST00000460850.1_5'UTR NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 2 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) ACAGCCGGCTTTCATTTTCAC 0.468000 62 218 0 0 1 0 0 SEP15 9403 broad.mit.edu 37 1 87329192 87329192 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:87329192C>G ENST00000331835.5 - 5 716 c.454G>C c.(454-456)Gaa>Caa p.E152Q RP4-604K5.1_ENST00000370554.1_3'UTR|RP4-604K5.1_ENST00000469566.1_5'UTR|RP4-604K5.1_ENST00000401030.3_3'UTR NM_004261.3 NP_004252.2 AGGAATTCTTCTACACTGTCT 0.373000 4 33 0 0 1 0 0 RBM17 84991 broad.mit.edu 37 10 6157423 6157423 + Silent SNP T T G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:6157423T>G ENST00000446108.1 + 12 1754 c.1110T>G c.(1108-1110)gtT>gtG p.V370V RBM17_ENST00000379888.4_Silent_p.V370V|RBM17_ENST00000476706.1_3'UTR NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 370 RRM. mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 CAGCGGTTGTTGACTTGAATG 0.348000 10 232 0 0 1 0 0 OPN1SW 611 broad.mit.edu 37 7 128414567 128414567 + Silent SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:128414567C>G ENST00000249389.2 - 3 671 c.672G>C c.(670-672)ctG>ctC p.L224L NM_001708.2 NP_001699.1 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 224 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1) 19 TCAGGGCCCTCAGCAGCTGAG 0.522000 31 169 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31427868 31427868 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:31427868G>A ENST00000389202.2 + 20 2449 c.2400G>A c.(2398-2400)gtG>gtA p.V800V NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 800 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGCTCAACGTGATTGTGACTG 0.622000 35 140 0 0 1 0 0 ACTC1 70 broad.mit.edu 37 15 35085666 35085666 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:35085666G>A ENST00000290378.4 - 3 889 c.234C>T c.(232-234)atC>atT p.I78I RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 78 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CCCAGTTGGTGATGATACCAT 0.567000 22 106 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142397008 142397008 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr6:142397008G>C ENST00000258042.1 - 3 1090 c.950C>G c.(949-951)tCt>tGt p.S317C NMBR_ENST00000480652.1_5'UTR NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 317 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) GTTGACACAAGAATTGCCAAA 0.443000 19 60 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328631 3328631 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:3328631G>C ENST00000378398.3 + 10 1955 c.1873G>C c.(1873-1875)Gac>Cac p.D625H PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.D624H|PRDM16_ENST00000442529.2_Missense_Mutation_p.D624H|PRDM16_ENST00000511072.1_Missense_Mutation_p.D625H|PRDM16_ENST00000270722.5_Missense_Mutation_p.D624H|PRDM16_ENST00000378391.2_Missense_Mutation_p.D624H|PRDM16_ENST00000514189.1_Missense_Mutation_p.D625H Q9HAZ2 PRD16_HUMAN PR domain containing 16 624 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding p.D624Y(1) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GACGGGCTCGGACCTGGACAG 0.677000 T EVI1 """MDS, AML""" 40 116 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32933216 32933216 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:32933216G>A ENST00000383763.4 + 4 2583 c.2520G>A c.(2518-2520)caG>caA p.Q840Q NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 840 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCTTTGGGCAGATGGACCGCC 0.537000 71 217 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512150 61512150 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:61512150C>T ENST00000266070.4 - 16 5483 c.5158G>A c.(5158-5160)Gag>Aag p.E1720K DIDO1_ENST00000395343.1_Missense_Mutation_p.E1720K NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1720 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTGTCCCCCTCTGTTTCACCT 0.647000 31 136 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101845511 101845511 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:101845511C>T ENST00000348070.1 - 23 2858 c.2859G>A c.(2857-2859)cgG>cgA p.R953R PCSK6_ENST00000358417.3_Silent_p.R940R|PCSK6_ENST00000561177.1_5'UTR|RP11-299G20.2_ENST00000558838.1_RNA NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 954 PLAC. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGAAGAGCTTCCGTTCGCACA 0.602000 7 40 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61687657 61687657 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:61687657C>G ENST00000577390.1 - 12 3209 c.2255G>C c.(2254-2256)cGa>cCa p.R752P CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 752 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CACTGACCCTCGGCCTTCATA 0.502000 8 55 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28511033 28511033 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:28511033G>A ENST00000261609.7 - 13 1794 c.1686C>T c.(1684-1686)taC>taT p.Y562Y NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 562 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGGCCGCACTGTAAGTGCTCC 0.632000 12 69 0 0 1 0 0 VSIG2 23584 broad.mit.edu 37 11 124618657 124618657 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:124618657C>T ENST00000403470.1 - 5 644 c.589G>A c.(589-591)Gag>Aag p.E197K VSIG2_ENST00000326621.5_Missense_Mutation_p.E197K Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 197 Ig-like C2-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) CCAGACACCTCATCTAGAGGA 0.527000 11 72 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128490867 128490867 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:128490867G>A ENST00000325888.8 + 33 5670 c.5409G>A c.(5407-5409)cgG>cgA p.R1803R FLNC_ENST00000346177.6_Silent_p.R1770R|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1803 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GAGAGGTGCGGATGCCCTCGG 0.622000 38 150 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103596137 103596137 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr14:103596137C>T ENST00000560869.1 + 4 1560 c.921C>T c.(919-921)ctC>ctT p.L307L TNFAIP2_ENST00000451723.2_Intron|TNFAIP2_ENST00000333007.1_Silent_p.L307L Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 307 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) TCGGGAGCCTCCTGCCCCCCA 0.642000 24 55 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123911011 123911011 + Nonsense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:123911011C>G ENST00000373855.1 + 24 3781 c.3521C>G c.(3520-3522)tCa>tGa p.S1174* CNTRL_ENST00000373850.1_Nonsense_Mutation_p.S622*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.S1174*|CNTRL_ENST00000373847.1_Nonsense_Mutation_p.S622* Q7Z7A1 CNTRL_HUMAN centriolin 1174 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 TACTCAGCCTCAACTCCTGTT 0.502000 18 90 0 0 1 0 0 CARS2 79587 broad.mit.edu 37 13 111340150 111340150 + Silent SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr13:111340150C>G ENST00000257347.4 - 5 552 c.489G>C c.(487-489)ctG>ctC p.L163L CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 163 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CGGTTACCCTCAGGTACACCG 0.483000 37 171 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112143554 112143554 + Missense_Mutation SNP G G A rs144623113 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:112143554G>A ENST00000455480.2 + 4 526 c.349G>A c.(349-351)Gtg>Atg p.V117M ACAD10_ENST00000549590.1_Missense_Mutation_p.V117M|ACAD10_ENST00000313698.4_Missense_Mutation_p.V117M|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 117 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 AAAGACCTCCGTGCCTGTGGA 0.453000 5 96 0 0 1 0 0 CDH3 1001 broad.mit.edu 37 16 68719187 68719187 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:68719187G>A ENST00000264012.4 + 11 2048 c.1504G>A c.(1504-1506)Gac>Aac p.D502N CDH3_ENST00000581171.1_Missense_Mutation_p.D447N|CDH3_ENST00000429102.2_Missense_Mutation_p.D502N NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 502 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) GGGCACCCTCGACCGTGAGGA 0.577000 21 95 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73565679 73565679 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:73565679C>G ENST00000224721.6 + 55 8009 c.8004C>G c.(8002-8004)ttC>ttG p.F2668L CDH23_ENST00000398788.3_Missense_Mutation_p.F423L|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2663 Cadherin 25. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ACTGGGAGTTCTTCATCATCG 0.652000 8 23 0 0 1 0 0 SOAT2 8435 broad.mit.edu 37 12 53497988 53497988 + Nonsense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:53497988G>T ENST00000301466.3 + 2 196 c.136G>T c.(136-138)Gag>Tag p.E46* NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 46 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 CCGACACATGGAGGTGAGGGA 0.498000 24 107 1.75199e-13 1.95369e-13 1 1 0 MYO1F 4542 broad.mit.edu 37 19 8595209 8595209 + Missense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:8595209G>T ENST00000338257.8 - 21 2466 c.2199C>A c.(2197-2199)aaC>aaA p.N733K NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 733 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GATTGATGCTGTTGCGCCTCC 0.627000 92 356 6.28223e-41 7.14656e-41 1 1 0 RASSF8 11228 broad.mit.edu 37 12 26218195 26218195 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:26218195G>C ENST00000405154.2 + 3 1067 c.868G>C c.(868-870)Gag>Cag p.E290Q RASSF8_ENST00000541490.1_Missense_Mutation_p.E290Q|RASSF8_ENST00000542865.1_Missense_Mutation_p.E290Q|RASSF8_ENST00000282884.9_Missense_Mutation_p.E290Q|RASSF8_ENST00000381352.3_Missense_Mutation_p.E290Q NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 290 Glu-rich. signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) CAATGAGGAAGAGGTTAAAGG 0.443000 39 126 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24201067 24201067 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr8:24201067C>T ENST00000265769.4 + 18 2070 c.1960C>T c.(1960-1962)Ccc>Tcc p.P654S RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.P401S|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 654 EGF-like. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ATGGATCCCTCCCGACTGCGA 0.478000 22 67 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171761 207171761 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:207171761C>G ENST00000374423.3 + 5 2895 c.2509C>G c.(2509-2511)Ctt>Gtt p.L837V NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 837 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TGATATTCCTCTTCATTCAGG 0.358000 10 41 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30415660 30415660 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr22:30415660G>C ENST00000333027.3 + 17 2340 c.2012G>C c.(2011-2013)aGa>aCa p.R671T MTMR3_ENST00000406629.1_Missense_Mutation_p.R671T|MTMR3_ENST00000323630.5_Missense_Mutation_p.R535T|MTMR3_ENST00000401950.2_Missense_Mutation_p.R671T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.R671T NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 671 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) AAGCCCACCAGAGTGCCGGGG 0.622000 4 139 0 0 1 0 0 USP14 9097 broad.mit.edu 37 18 178978 178978 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr18:178978G>A ENST00000261601.6 + 4 332 c.241G>A c.(241-243)Gaa>Aaa p.E81K USP14_ENST00000400266.3_Missense_Mutation_p.E70K|USP14_ENST00000383589.2_Intron|USP14_ENST00000582707.1_Intron NM_005151.3 NP_005142.1 P54578 UBP14_HUMAN ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 81 regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2) 11 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TCTTCCAGAAGAACCCTCAGC 0.363000 12 65 0 0 1 0 0 OR52K1 390036 broad.mit.edu 37 11 4510866 4510866 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:4510866C>G ENST00000307632.3 + 1 758 c.736C>G c.(736-738)Cac>Gac p.H246D NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) ATGTGTGTCTCACATAGGTGC 0.537000 40 191 0 0 1 0 0 SERHL2 253190 broad.mit.edu 37 22 42968465 42968465 + Missense_Mutation SNP C C T rs144992498 byFrequency TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr22:42968465C>T ENST00000327678.5 + 11 857 c.755C>T c.(754-756)tCa>tTa p.S252L RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000407614.4_Missense_Mutation_p.S72L|SERHL2_ENST00000335879.5_Missense_Mutation_p.S188L|SERHL2_ENST00000340239.4_3'UTR NM_014509.3 NP_055324.2 Q9H4I8 SEHL2_HUMAN serine hydrolase-like 2 252 perinuclear region of cytoplasm|peroxisome hydrolase activity breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1) 8 TATTTTGATTCAAGACAGAAT 0.537000 33 96 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170667 72170667 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:72170667C>T ENST00000537465.1 - 8 1128 c.970G>A c.(970-972)Gag>Aag p.E324K PMFBP1_ENST00000355636.6_Missense_Mutation_p.E179K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E324K Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 324 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTCTGGTACTCCTCCACATGC 0.542000 7 44 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240070879 240070879 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:240070879C>G ENST00000255380.4 + 5 907 c.128C>G c.(127-129)tCt>tGt p.S43C NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 43 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity p.S43Y(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TACAATGTTTCTCGAGCAGCT 0.562000 36 123 0 0 1 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993668 96993668 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:96993668G>C ENST00000361124.4 + 1 1734 c.1323G>C c.(1321-1323)caG>caC p.Q441H ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.Q425H|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.Q425H|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.Q433H NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 433 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGCAGCATCAGAGCTTACCCC 0.572000 38 122 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921930 78921930 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:78921930G>A ENST00000261751.3 - 5 828 c.717C>T c.(715-717)ctC>ctT p.L239L CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 239 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 AGGGGATGATGAGGTTGATGG 0.562000 33 178 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101115203 101115203 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:101115203G>A ENST00000314742.8 - 4 842 c.620C>T c.(619-621)tCa>tTa p.S207L LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.S207L|LINS_ENST00000560133.1_Missense_Mutation_p.S88L NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 207 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TGTTTTCTGTGAACATGAATC 0.343000 13 99 0 0 1 0 0 ZNF813 126017 broad.mit.edu 37 19 53994330 53994330 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:53994330C>G ENST00000396403.4 + 4 972 c.844C>G c.(844-846)Cag>Gag p.Q282E ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) GACTTTCAGTCAGACGTATTC 0.423000 26 110 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56629424 56629424 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:56629424C>T ENST00000266980.4 + 6 1178 c.885C>T c.(883-885)ctC>ctT p.L295L SLC39A5_ENST00000454355.2_Silent_p.L295L NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 295 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCGGAGGCCTCTTCCTGCTCT 0.612000 66 315 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13830240 13830240 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:13830240C>G ENST00000284951.5 - 20 2032 c.1958G>C c.(1957-1959)aGa>aCa p.R653T SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.R540T Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 653 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 CCAGTTCCATCTCGTTGTGAA 0.483000 4 126 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222433460 222433460 + Missense_Mutation SNP A A C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:222433460A>C ENST00000281821.2 - 2 178 c.137T>G c.(136-138)aTa>aGa p.I46R EPHA4_ENST00000409854.1_Missense_Mutation_p.I46R|EPHA4_ENST00000392071.4_Intron|EPHA4_ENST00000409938.1_Missense_Mutation_p.I46R NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 46 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) AGGGCTTGCTATCCACCCAAG 0.408000 9 21 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17434398 17434398 + Silent SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:17434398G>C ENST00000159087.4 - 18 3785 c.3627C>G c.(3625-3627)ctC>ctG p.L1209L NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 1209 Pro-rich. chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 ctggggtctcgaggggatccg 0.731000 5 17 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42560902 42560902 + Missense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:42560902G>T ENST00000262895.3 - 7 814 c.815C>A c.(814-816)aCg>aAg p.T272K GRIK5_ENST00000593562.1_Missense_Mutation_p.T272K|GRIK5_ENST00000301218.4_Missense_Mutation_p.T272K NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 272 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) GGGGTGGGACGTGTTGAACAT 0.592000 30 123 1.56442e-22 1.76779e-22 1 1 0 PRSS54 221191 broad.mit.edu 37 16 58314605 58314605 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:58314605C>T ENST00000219301.4 - 7 1105 c.711G>A c.(709-711)ctG>ctA p.L237L CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Silent_p.L237L|CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000543437.1_Silent_p.L138L NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 237 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGACTCCTCTCAGAACCCACA 0.507000 20 58 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72349089 72349089 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:72349089G>A ENST00000389916.4 + 15 2248 c.2110G>A c.(2110-2112)Gag>Aag p.E704K NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 704 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CCTCAGCACAGAGAGGTGAGA 0.602000 13 37 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52613629 52613629 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:52613629C>T ENST00000399231.3 - 37 5046 c.4803G>A c.(4801-4803)gtG>gtA p.V1601V MYO5A_ENST00000358212.6_Silent_p.V1626V|MYO5A_ENST00000356338.6_Silent_p.V1574V|MYO5A_ENST00000399233.2_Silent_p.V1598V|MYO5A_ENST00000553916.1_Silent_p.V1599V NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1601 Dilute. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) AGTCACTCAGCACCTGCCGAT 0.507000 43 160 0 0 1 0 0 CENPT 80152 broad.mit.edu 37 16 67862267 67862267 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:67862267G>A ENST00000562787.1 - 16 2137 c.1589C>T c.(1588-1590)tCa>tTa p.S530L CENPT_ENST00000440851.2_Missense_Mutation_p.S530L|CENPT_ENST00000564817.1_Missense_Mutation_p.S475L|CENPT_ENST00000219172.3_Missense_Mutation_p.S530L NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 530 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) CACGTGCAGTGAGACTTGGTC 0.617000 13 88 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35422794 35422794 + Silent SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:35422794G>T ENST00000439785.1 + 3 501 c.57G>T c.(55-57)gtG>gtT p.V19V ZNF30_ENST00000601957.1_Silent_p.V19V|ZNF30_ENST00000601540.1_3'UTR|ZNF30_ENST00000601142.1_Silent_p.V19V|ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000303586.7_Silent_p.V19V NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) TTGAGGATGTGGCCATAGCCT 0.458000 13 28 0.000151284 0.000157317 1 1 0 RC3H2 54542 broad.mit.edu 37 9 125622316 125622316 + Missense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:125622316G>T ENST00000373670.1 - 10 2329 c.1729C>A c.(1729-1731)Caa>Aaa p.Q577K RC3H2_ENST00000357244.2_Missense_Mutation_p.Q577K|RC3H2_ENST00000423239.2_Missense_Mutation_p.Q577K Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 577 Pro-rich. cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CTGGATTTTTGAGGCACAGAA 0.433000 64 310 1.74474e-33 1.97815e-33 1 1 0 KDM5D 8284 broad.mit.edu 37 Y 21893666 21893666 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chrY:21893666C>T ENST00000541639.1 - 11 1650 c.1363G>A c.(1363-1365)Gag>Aag p.E455K KDM5D_ENST00000317961.4_Missense_Mutation_p.E455K|KDM5D_ENST00000382806.2_Missense_Mutation_p.E398K NM_001146705.1 NP_001140177.1 Q9BY66 KDM5D_HUMAN lysine (K)-specific demethylase 5D 455 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(1)|large_intestine(9)|lung(6)|skin(1) 17 Vitamin C(DB00126) ACCTTCTCCTCAGGAGATAAG 0.388000 28 45 0 0 1 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600065 3600065 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:3600065C>T ENST00000375190.4 - 2 961 c.568G>A c.(568-570)Gag>Aag p.E190K TBXA2R_ENST00000411851.3_Missense_Mutation_p.E190K|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000587717.1_5'UTR NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 190 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) TCCCCGGACTCGGCGCCCAGC 0.716000 6 32 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56493520 56493520 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:56493520G>A ENST00000267101.3 + 24 3368 c.2928G>A c.(2926-2928)ctG>ctA p.L976L ERBB3_ENST00000415288.2_Silent_p.L917L|ERBB3_ENST00000450146.2_Silent_p.L333L|ERBB3_ENST00000553131.1_Silent_p.L217L|ERBB3_ENST00000549832.1_Silent_p.L96L NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 976 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CACGGTATCTGGTCATAAAGG 0.463000 27 74 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156618245 156618245 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr4:156618245G>C ENST00000296518.7 + 3 435 c.226G>C c.(226-228)Gag>Cag p.E76Q GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E76Q|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E76Q|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E76Q|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E76Q|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E76Q Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 76 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CACTTTGGCAGAGAGTATTTG 0.393000 31 84 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16901153 16901153 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:16901153C>G ENST00000430580.2 - 21 3114 c.2227G>C c.(2227-2229)Gag>Cag p.E743Q NBPF1_ENST00000287968.8_Missense_Mutation_p.E108Q|NBPF1_ENST00000432949.1_Missense_Mutation_p.E201Q NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 743 NBPF 3. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AGTGAGTCCTCAGGGACTTCC 0.493000 30 473 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41351330 41351330 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:41351330C>T ENST00000301141.5 - 7 1050 c.1030G>A c.(1030-1032)Gag>Aag p.E344K CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 344 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GCCCGGTCCTCAAACTTGGGC 0.547000 30 143 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43031264 43031264 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:43031264C>T ENST00000161559.6 - 2 487 c.353G>A c.(352-354)gGa>gAa p.G118E CEACAM1_ENST00000352591.5_Missense_Mutation_p.G118E|CEACAM1_ENST00000403461.1_Missense_Mutation_p.G118E|CEACAM1_ENST00000599389.1_Missense_Mutation_p.G118E|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.G118E|CEACAM1_ENST00000308072.4_Missense_Mutation_p.G78E|CEACAM1_ENST00000351134.3_Missense_Mutation_p.G118E|CEACAM1_ENST00000358394.3_Missense_Mutation_p.G118E NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 118 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) GGTGTAGAATCCTGTGTCATT 0.493000 92 412 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55183810 55183810 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:55183810G>A ENST00000337714.3 + 2 1218 c.985G>A c.(985-987)Gag>Aag p.E329K AKAP1_ENST00000572557.1_Missense_Mutation_p.E329K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E329K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E329K|AKAP1_ENST00000314126.3_Missense_Mutation_p.E329K NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 329 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TAGAAATGAGGAGAGCTTGGA 0.488000 50 85 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170103489 170103489 + Silent SNP G G A rs142290901 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:170103489G>A ENST00000263816.3 - 21 3201 c.2916C>T c.(2914-2916)aaC>aaT p.N972N LRP2_ENST00000443831.1_Silent_p.N835N NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 972 EGF-like 4. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GATTACAGGCGTTAGAACCTG 0.498000 11 51 0 0 1 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36234745 36234745 + Missense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:36234745G>T ENST00000292879.5 - 5 421 c.368C>A c.(367-369)tCc>tAc p.S123Y AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000412391.2_Silent_p.L181L|U2AF1L4_ENST00000378975.3_Silent_p.L142L NM_144987.2 NP_659424.2 Q8WU68 U2AF4_HUMAN U2 small nuclear RNA auxiliary factor 1-like 4 0 RRM. mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCTGCCTCTGGAGGTTCTGGG 0.567000 6 22 0.00198382 0.00204412 1 1 0 ZNF462 58499 broad.mit.edu 37 9 109765590 109765590 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:109765590G>C ENST00000277225.5 + 11 7361 c.7072G>C c.(7072-7074)Gag>Cag p.E2358Q ZNF462_ENST00000457913.1_Missense_Mutation_p.E2418Q|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.E1264Q|ZNF462_ENST00000542028.1_Missense_Mutation_p.E315Q Q96JM2 ZN462_HUMAN zinc finger protein 462 2358 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCGTAACTTTGAGCTGGTTGG 0.448000 24 95 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70964454 70964454 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr8:70964454G>C ENST00000276594.2 - 8 1775 c.1574C>G c.(1573-1575)tCt>tGt p.S525C NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GGATGCAAAAGATTTACCACA 0.517000 40 157 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155253832 155253832 + Silent SNP T T A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr4:155253832T>A ENST00000357232.3 - 9 2030 c.2031A>T c.(2029-2031)acA>acT p.T677T DCHS2_ENST00000339452.1_Silent_p.T1176T NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 677 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GAACAATGACTGTAGTGCTCA 0.448000 50 110 0 0 1 0 0 ZMYND11 10771 broad.mit.edu 37 10 283612 283612 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:283612C>G ENST00000397962.3 + 6 1032 c.604C>G c.(604-606)Caa>Gaa p.Q202E ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q202E|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q202E|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q202E|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q162E|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q162E|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q108E|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q162E|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q45E|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q185E|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q148E|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q108E Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 162 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TCCCACCATTCAAGAGGTAAA 0.393000 19 27 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197396599 197396599 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:197396599G>C ENST00000367397.1 + 3 1145 c.287G>C c.(286-288)aGa>aCa p.R96T CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.R196T|CRB1_ENST00000367399.2_Missense_Mutation_p.R603T|CRB1_ENST00000535699.1_Missense_Mutation_p.R646T|CRB1_ENST00000367400.3_Missense_Mutation_p.R715T P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 715 EGF-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GTGGCAGGCAGATTTGGCCAG 0.428000 12 66 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21348942 21348942 + Missense_Mutation SNP G G A rs5761750 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr22:21348942G>A ENST00000215739.8 + 15 2070 c.1711G>A c.(1711-1713)Gag>Aag p.E571K LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.E552K NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 571 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity p.E571K(1) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCAGTACATCGAGGCCTCCGT 0.617000 18 53 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4856130 4856130 + Nonsense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:4856130G>T ENST00000354582.6 + 57 7890 c.7540G>T c.(7540-7542)Gaa>Taa p.E2514* ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.E2466*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.E2514*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.E2481*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.E2514*|ITPR1_ENST00000544951.1_Nonsense_Mutation_p.E492*|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.E2481*|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000441894.1_Intron Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2529 Interaction with ERP44 (By similarity). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGAAGAGACGGAACAGGATAA 0.517000 22 79 7.38237e-10 8.0991e-10 1 1 0 SPAG17 200162 broad.mit.edu 37 1 118550738 118550738 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:118550738C>G ENST00000336338.5 - 31 4581 c.4516G>C c.(4516-4518)Gag>Cag p.E1506Q NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1506 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTACTGTCCTCACAGTTGGCG 0.517000 23 84 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430715 43430715 + RNA SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:43430715C>G ENST00000406070.2 - 0 959 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TTCAATGCGTCGCTTTACCCT 0.488000 130 469 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58945414 58945414 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:58945414C>G ENST00000254166.3 - 3 1797 c.1397G>C c.(1396-1398)aGa>aCa p.R466T NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 466 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GCTGAAGTCTCTTCCACATTC 0.463000 22 71 0 0 1 0 0 FOXF1 2294 broad.mit.edu 37 16 86544587 86544587 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:86544587C>T ENST00000262426.4 + 1 455 c.412C>T c.(412-414)Cgg>Tgg p.R138W NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 138 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding p.R113W(2) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 GGGCTCCTTTCGGCGGCGGCC 0.647000 23 106 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6554723 6554723 + Missense_Mutation SNP T T C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:6554723T>C ENST00000321612.6 - 19 2411 c.2261A>G c.(2260-2262)aAg>aGg p.K754R NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 754 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GCAGAAGGTCTTGTGAAGATT 0.542000 9 37 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32089429 32089429 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:32089429G>C ENST00000438447.1 + 20 6263 c.5875G>C c.(5875-5877)Gaa>Caa p.E1959Q PDZD2_ENST00000282493.3_Missense_Mutation_p.E1959Q O15018 PDZD2_HUMAN PDZ domain containing 2 1959 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTGTGTGCTGGAAAGCAAGCC 0.587000 24 92 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130409661 130409661 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chrX:130409661C>T ENST00000370904.1 - 22 3858 c.2948G>A c.(2947-2949)cGa>cAa p.R983Q IGSF1_ENST00000370903.3_Missense_Mutation_p.R997Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R983Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R992Q Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 992 Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GACCGGCCCTCGGCACCAGAG 0.522000 27 82 0 0 1 0 0 KLHDC9 126823 broad.mit.edu 37 1 161069183 161069183 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:161069183C>A ENST00000392192.2 + 2 717 c.575C>A c.(574-576)gCg>gAg p.A192E KLHDC9_ENST00000368011.4_Missense_Mutation_p.A192E|KLHDC9_ENST00000490724.2_3'UTR NM_001007255.2 NP_001007256.1 Q8NEP7 KLDC9_HUMAN kelch domain containing 9 192 lung(5)|upper_aerodigestive_tract(1) 6 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGTCACTGTGCGGCCCTGCTC 0.522000 4 55 1 1 1 1 0 SYTL3 94120 broad.mit.edu 37 6 159184342 159184342 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr6:159184342C>T ENST00000297239.9 + 16 1718 c.1524C>T c.(1522-1524)ctC>ctT p.L508L SYTL3_ENST00000367081.3_Silent_p.L234L|SYTL3_ENST00000360448.3_Silent_p.L440L Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 508 C2 2. intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TCAGCTGTCTCACTCTGCCAG 0.537000 31 63 0 0 1 0 0 RPL17-C18orf32 100526842 broad.mit.edu 37 18 47016844 47016844 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr18:47016844C>G ENST00000584895.1 - 4 309 c.295G>C c.(295-297)Gag>Cag p.E99Q RPL17_ENST00000579248.1_Missense_Mutation_p.E99Q|RPL17_ENST00000418495.1_Missense_Mutation_p.E99Q|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E61Q|RPL17_ENST00000580261.1_Missense_Mutation_p.E99Q|RPL17_ENST00000581091.1_5'UTR|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000581373.1_Missense_Mutation_p.E61Q|RPL17_ENST00000580210.1_Missense_Mutation_p.E89Q|RPL17_ENST00000579408.1_Missense_Mutation_p.E99Q NM_001199355.1|NM_001199356.1 NP_001186284.1|NP_001186285.1 GCATTACTCTCTGCGTTTTTA 0.428000 21 123 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107549185 107549185 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:107549185C>G ENST00000374736.3 - 47 6671 c.6277G>C c.(6277-6279)Gag>Cag p.E2093Q NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 2093 ABC transporter 2. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GATCTCCCCTCCTTGACAACA 0.433000 4 153 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29037027 29037027 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr18:29037027G>A ENST00000257189.4 + 3 239 c.156G>A c.(154-156)gtG>gtA p.V52V NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 52 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTGAATGGGTGAAATTTGCCA 0.353000 13 96 0 0 1 0 0 SPI1 6688 broad.mit.edu 37 11 47380517 47380517 + Missense_Mutation SNP A A G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:47380517A>G ENST00000378538.3 - 4 593 c.371T>C c.(370-372)cTg>cCg p.L124P SPI1_ENST00000227163.4_Missense_Mutation_p.L125P|SPI1_ENST00000533968.1_Missense_Mutation_p.L124P|SPI1_ENST00000533030.1_Intron NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 124 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) GGCTGGGGACAGGGATGGGTA 0.682000 6 22 0 0 1 0 0 PANK1 53354 broad.mit.edu 37 10 91404806 91404806 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:91404806C>T ENST00000307534.4 - 1 409 c.254G>A c.(253-255)gGa>gAa p.G85E NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 85 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) CTCCTCCCCTCCTCCTGCCGA 0.741000 7 15 0 0 1 0 0 C9orf3 84909 broad.mit.edu 37 9 97522564 97522564 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:97522564C>T ENST00000375315.2 + 1 499 c.499C>T c.(499-501)Ctg>Ttg p.L167L C9orf3_ENST00000297979.5_Silent_p.L167L|C9orf3_ENST00000277198.2_Silent_p.L167L NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 167 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) TGTGCCAGGTCTGGAAAAATT 0.458000 44 187 0 0 1 0 0 METTL22 79091 broad.mit.edu 37 16 8722877 8722877 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:8722877G>C ENST00000381920.3 + 3 682 c.424G>C c.(424-426)Gac>Cac p.D142H METTL22_ENST00000561758.1_Intron NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 142 methyltransferase activity large_intestine(5)|lung(4) 9 GCCTCTGAGAGACAAGGTACA 0.542000 64 243 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7676948 7676948 + Silent SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:7676948C>A ENST00000446248.2 + 13 1751 c.1650C>A c.(1648-1650)ccC>ccA p.P550P CAMSAP3_ENST00000160298.4_Silent_p.P523P NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 523 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 TGCCACACCCCGAGACCCCCT 0.672000 19 94 0.000375601 0.000388197 1 1 0 HS3ST2 9956 broad.mit.edu 37 16 22926611 22926611 + Missense_Mutation SNP A A G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:22926611A>G ENST00000261374.3 + 2 1266 c.832A>G c.(832-834)Atc>Gtc p.I278V NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 278 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) CGAGCGACTCATCACTGACCC 0.552000 36 240 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174086030 174086030 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:174086030G>A ENST00000338983.3 + 12 1335 c.1140G>A c.(1138-1140)ctG>ctA p.L380L MLTK_ENST00000375213.3_Intron|MLTK_ENST00000539448.1_Silent_p.L380L|MLTK_ENST00000431503.2_Silent_p.L279L|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Intron NM_133646.2 NP_598407.1 CCATGATGCTGATGGGCTTTG 0.478000 45 120 0 0 1 0 0 POU5F2 134187 broad.mit.edu 37 5 93076688 93076688 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:93076688C>T ENST00000510627.4 - 1 655 c.582G>A c.(580-582)gaG>gaA p.E194E FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 194 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) CCAGAAGGTTCTCTGCTTCCA 0.542000 9 68 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767323 105767323 + Missense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:105767323G>T ENST00000374798.3 + 5 480 c.410G>T c.(409-411)gGa>gTa p.G137V CYLC2_ENST00000487798.1_Missense_Mutation_p.G137V NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 137 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) TTAaaacaaggaaaaaaagat 0.328000 3 24 0.004672 0.00479942 1 1 0 REG3G 130120 broad.mit.edu 37 2 79254997 79254997 + Nonsense_Mutation SNP G G A rs147143164 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:79254997G>A ENST00000272324.5 + 5 582 c.398G>A c.(397-399)tGg>tAg p.W133* REG3G_ENST00000409471.1_Nonsense_Mutation_p.W87*|REG3G_ENST00000393897.2_Nonsense_Mutation_p.W133* NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 133 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TACTTTGCATGGGAGAAAAAT 0.502000 37 179 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93055669 93055669 + Nonstop_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:93055669C>G ENST00000359558.2 - 16 1825 c.1526G>C c.(1525-1527)tGa>tCa p.*509S CALCR_ENST00000421592.1_Nonstop_Mutation_p.*491S|CALCR_ENST00000426151.1_Nonstop_Mutation_p.*475S|CALCR_ENST00000360249.4_Nonstop_Mutation_p.*491S|CALCR_ENST00000394441.1_Nonstop_Mutation_p.*475S NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 0 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GCTTCACATTCAAGCAGATGA 0.463000 28 144 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123325105 123325105 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:123325105C>T ENST00000358487.5 - 3 495 c.223G>A c.(223-225)Gat>Aat p.D75N FGFR2_ENST00000351936.6_Missense_Mutation_p.D75N|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.D75N|FGFR2_ENST00000457416.2_Missense_Mutation_p.D75N|FGFR2_ENST00000369060.4_Missense_Mutation_p.D75N|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000359354.2_Missense_Mutation_p.D75N|FGFR2_ENST00000346997.2_Missense_Mutation_p.D75N|FGFR2_ENST00000369056.1_Missense_Mutation_p.D75N|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000490349.1_5'UTR NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 75 Ig-like C2-type 1. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TGCACCCCATCCTTAGTCCAA 0.552000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 60 166 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237843832 237843832 + Missense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:237843832G>T ENST00000366574.2 + 62 9289 c.8972G>T c.(8971-8973)tGc>tTc p.C2991F RYR2_ENST00000542537.1_Missense_Mutation_p.C2975F|RYR2_ENST00000360064.6_Missense_Mutation_p.C2989F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2991 Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGACCTCTCTGCTCTGGAGGA 0.383000 7 15 2.17888e-05 2.28681e-05 1 1 0 KCNA1 3736 broad.mit.edu 37 12 5020723 5020723 + Missense_Mutation SNP A A G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:5020723A>G ENST00000382545.3 + 2 1286 c.179A>G c.(178-180)aAc>aGc p.N60S KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 60 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAGTTCCCCAACACGCTGCTG 0.632000 3 101 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77649163 77649163 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:77649163C>A ENST00000354212.4 - 22 4090 c.3837G>T c.(3835-3837)caG>caT p.Q1279H MAGI2_ENST00000419488.1_Missense_Mutation_p.Q1265H|MAGI2_ENST00000522391.1_3'UTR NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1279 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGGGCTTATCTGGTGGGAAG 0.627000 21 102 0.0998962 0.101392 1 1 0 GALK1 2584 broad.mit.edu 37 17 73754672 73754672 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:73754672C>T ENST00000588479.1 - 6 1376 c.802G>A c.(802-804)Gac>Aac p.D268N GALK1_ENST00000437911.1_Missense_Mutation_p.D298N|GALK1_ENST00000225614.2_Missense_Mutation_p.D268N P51570 GALK1_HUMAN galactokinase 1 268 galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 5 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CTCACCAGGTCCCTGGCAGCT 0.706000 7 8 0 0 1 0 0 FUT7 2529 broad.mit.edu 37 9 139925416 139925416 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:139925416G>A ENST00000314412.6 - 2 1793 c.775C>T c.(775-777)Cgg>Tgg p.R259W C9orf139_ENST00000314330.2_Intron NM_004479.3 NP_004470.1 Q11130 FUT7_HUMAN fucosyltransferase 7 (alpha (1,3) fucosyltransferase) 259 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1) 8 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) TAGGTGGCCCGTGGGGGCCCC 0.607000 17 85 0 0 1 0 0 WNT3A 89780 broad.mit.edu 37 1 228238393 228238393 + Nonsense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:228238393C>A ENST00000284523.1 + 3 428 c.350C>A c.(349-351)tCa>tAa p.S117* WNT3A_ENST00000366753.2_Nonsense_Mutation_p.S117* NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 117 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GCCATTGCCTCAGCCGGTGTG 0.632000 13 63 1.49906e-05 1.5782e-05 1 1 0 NPFFR2 10886 broad.mit.edu 37 4 73013182 73013182 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr4:73013182G>A ENST00000308744.6 + 4 1320 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K NPFFR2_ENST00000395999.1_Missense_Mutation_p.E309K|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.E306K NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 408 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TTCTCCAAATGAACTGCAGAT 0.458000 27 76 0 0 1 0 0 ZNF644 84146 broad.mit.edu 37 1 91382363 91382363 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:91382363C>A ENST00000370440.1 - 6 4193 c.3976G>T c.(3976-3978)Gct>Tct p.A1326S ZNF644_ENST00000361321.5_Missense_Mutation_p.A104S|ZNF644_ENST00000337393.5_Missense_Mutation_p.A1326S|ZNF644_ENST00000347275.5_Missense_Mutation_p.A104S|ZNF644_ENST00000467231.1_5'UTR Q9H582 ZN644_HUMAN zinc finger protein 644 1326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTCTATGAAGCTGCTTCGGCC 0.363000 3 37 1 1 1 1 0 ZNF132 7691 broad.mit.edu 37 19 58945666 58945666 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:58945666C>G ENST00000254166.3 - 3 1545 c.1145G>C c.(1144-1146)aGa>aCa p.R382T NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 382 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GCTGAAGGCTCTTCCACATTT 0.463000 16 62 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145608189 145608189 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:145608189C>G ENST00000334163.3 - 4 668 c.508G>C c.(508-510)Gac>Cac p.D170H POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.D170H NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 170 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GGCCCAGGGTCTGAATTCTCA 0.478000 31 125 0 0 1 0 0 FAS 355 broad.mit.edu 37 10 90773980 90773980 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:90773980G>A ENST00000355740.2 + 9 1001 c.781G>A c.(781-783)Gag>Aag p.E261K FAS_ENST00000355279.2_3'UTR|FAS_ENST00000352159.4_3'UTR|FAS_ENST00000357339.2_Missense_Mutation_p.E240K NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 261 Death.|Interaction with HIPK3 (By similarity). activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) CAAAATAGATGAGATCAAGAA 0.378000 29 81 0 0 1 0 0 STAMBP 10617 broad.mit.edu 37 2 74071950 74071950 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:74071950G>A ENST00000394070.2 + 3 717 c.214G>A c.(214-216)Gag>Aag p.E72K STAMBP_ENST00000409707.1_Missense_Mutation_p.E72K|STAMBP_ENST00000394073.1_Missense_Mutation_p.E72K|STAMBP_ENST00000339566.3_Missense_Mutation_p.E72K|STAMBP_ENST00000536064.1_Missense_Mutation_p.E72K NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 72 Interaction with CHMP3. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 GCTCTTTATTGAGAAACTACC 0.393000 7 35 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47886925 47886925 + Missense_Mutation SNP T T G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:47886925T>G ENST00000396105.1 - 3 1670 c.1424A>C c.(1423-1425)gAa>gCa p.E475A ZNFX1_ENST00000371754.4_Missense_Mutation_p.E475A|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E475A NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 475 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCAGAGATCTTCCTGCTCCCT 0.488000 5 134 0 0 1 0 0 CDCA8 55143 broad.mit.edu 37 1 38168972 38168972 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:38168972G>A ENST00000373055.1 + 7 810 c.537G>A c.(535-537)gtG>gtA p.V179V CDCA8_ENST00000327331.2_Silent_p.V179V NM_001256875.1|NM_018101.3 NP_001243804.1|NP_060571.1 Q53HL2 BOREA_HUMAN cell division cycle associated 8 179 cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GATTGGAGGTGTCCATGGTCA 0.522000 62 254 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356284 55356284 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:55356284C>G ENST00000524622.1 - 7 1645 c.984G>C c.(982-984)caG>caC p.Q328H TESPA1_ENST00000531122.1_Missense_Mutation_p.Q328H|TESPA1_ENST00000532804.1_Missense_Mutation_p.Q328H|TESPA1_ENST00000316577.8_Missense_Mutation_p.Q466H|TESPA1_ENST00000449076.1_Missense_Mutation_p.Q466H NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 466 TGTCTACACTCTGCTTCCATT 0.512000 47 245 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52133946 52133946 + Missense_Mutation SNP T T G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr6:52133946T>G ENST00000596288.1 - 13 2068 c.2041A>C c.(2041-2043)Act>Cct p.T681P MCM3_ENST00000229854.7_Missense_Mutation_p.T636P|MCM3_ENST00000419835.2_Missense_Mutation_p.T590P NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 636 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) AGGTCCACAGTCTTGCTCATG 0.527000 4 151 0 0 1 0 0 POU2F2 5452 broad.mit.edu 37 19 42621423 42621423 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:42621423C>G ENST00000389341.5 - 5 348 c.282G>C c.(280-282)ttG>ttC p.L94F POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529067.1_Missense_Mutation_p.L94F|POU2F2_ENST00000560398.1_Missense_Mutation_p.L116F|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000533720.1_Missense_Mutation_p.L94F|POU2F2_ENST00000529952.1_Missense_Mutation_p.L94F|POU2F2_ENST00000526816.2_Missense_Mutation_p.L94F|POU2F2_ENST00000342301.4_Missense_Mutation_p.L94F NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 94 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GGCTGCCCGTCAACATGAGTT 0.622000 52 212 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44943789 44943789 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:44943789G>A ENST00000261866.7 - 6 1372 c.1356C>T c.(1354-1356)ctC>ctT p.L452L SPG11_ENST00000558319.1_Silent_p.L452L|SPG11_ENST00000535302.2_Silent_p.L452L|SPG11_ENST00000559193.1_Silent_p.L452L|SPG11_ENST00000427534.2_Silent_p.L452L NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 452 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCAAATCCCAGAGGGTAATGG 0.473000 23 137 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79350750 79350750 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:79350750C>G ENST00000419573.3 - 3 731 c.457G>C c.(457-459)Gag>Cag p.E153Q RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E153Q NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 153 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ACGGTCTTCTCTGTCTCCACG 0.597000 21 106 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145742824 145742824 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr8:145742824C>G ENST00000428558.2 - 3 228 c.187G>C c.(187-189)Gag>Cag p.E63Q RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 63 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GGGAGCGACTCGGAGCTGCGG 0.746000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 4 18 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31201042 31201042 + Silent SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:31201042C>G ENST00000254108.7 + 10 1098 c.993C>G c.(991-993)ggC>ggG p.G331G FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.G332G|FUS_ENST00000380244.3_Silent_p.G330G NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 331 RRM. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) GGGAAACTGGCAAGCTGAAGG 0.443000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 20 162 0 0 1 0 0 SELO 83642 broad.mit.edu 37 22 50649150 50649150 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr22:50649150G>A ENST00000380903.2 + 5 1219 c.1161G>A c.(1159-1161)cgG>cgA p.R387R RP3-402G11.5_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 GGAACCTGCGGAAGCTGGCCG 0.662000 OREG0026676 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 54 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109935710 109935710 + Silent SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:109935710C>G ENST00000342494.3 + 10 1396 c.801C>G c.(799-801)ctC>ctG p.L267L UBE3B_ENST00000280774.5_Silent_p.L267L|UBE3B_ENST00000434735.2_Silent_p.L267L NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 267 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TGACTCATCTCAGCACAGTGA 0.463000 4 173 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77147253 77147253 + Silent SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:77147253G>T ENST00000461745.1 + 2 1050 c.150G>T c.(148-150)ctG>ctT p.L50L ROBO2_ENST00000332191.8_Silent_p.L50L|ROBO2_ENST00000487694.3_Silent_p.L66L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 50 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCACGACTCTGAACTGCAAGG 0.597000 10 30 2.68362e-12 2.97303e-12 1 1 0 PBRM1 55193 broad.mit.edu 37 3 52713719 52713719 + Silent SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:52713719G>T ENST00000356770.4 - 1 11 c.9C>A c.(7-9)tcC>tcA p.S3S PBRM1_ENST00000394830.3_Silent_p.S3S|PBRM1_ENST00000410007.1_Silent_p.S3S|PBRM1_ENST00000409767.1_Silent_p.S3S|PBRM1_ENST00000409114.3_Silent_p.S3S|PBRM1_ENST00000409057.1_Silent_p.S3S|PBRM1_ENST00000296302.7_Silent_p.S3S|PBRM1_ENST00000337303.4_Silent_p.S3S Q86U86 PB1_HUMAN polybromo 1 3 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TTCTTCTCTTGGAACCCATGG 0.473000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 8 53 7.48243e-07 7.97655e-07 1 1 0 NFAT5 10725 broad.mit.edu 37 16 69718866 69718866 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:69718866C>T ENST00000349945.1 + 12 3037 c.1485C>T c.(1483-1485)gcC>gcT p.A495A NFAT5_ENST00000566899.1_Silent_p.A495A|NFAT5_ENST00000393742.2_Silent_p.A495A|NFAT5_ENST00000432919.1_Silent_p.A589A|NFAT5_ENST00000354436.2_Silent_p.A571A|NFAT5_ENST00000567239.1_Silent_p.A588A NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 571 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTGAAGAGGCCATGAAAGGTA 0.353000 7 48 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43269774 43269774 + Translation_Start_Site SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:43269774C>A ENST00000404209.4 - 0 56 PSG8_ENST00000406636.3_De_novo_Start_InFrame|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000306511.4_De_novo_Start_InFrame NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGAGATGAGCCTAGGATCCAG 0.607000 15 60 7.93312e-07 8.43049e-07 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228486202 228486202 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:228486202G>A ENST00000570156.2 + 49 13068 c.12994G>A c.(12994-12996)Gaa>Aaa p.E4332K OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.E1022K|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2749K|OBSCN_ENST00000284548.11_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3375 Ig-like 44. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGAGGCCTCAGAAGGGGCCAC 0.572000 41 159 0 0 1 0 0 CORO2B 10391 broad.mit.edu 37 15 69018214 69018214 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:69018214G>C ENST00000543950.1 + 12 1683 c.1329G>C c.(1327-1329)gaG>gaC p.E443D CORO2B_ENST00000261861.5_Missense_Mutation_p.E443D|CORO2B_ENST00000566799.1_Missense_Mutation_p.E448D|CORO2B_ENST00000540068.1_Missense_Mutation_p.E443D NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 448 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 AGCAGGATGAGATTCGACGGT 0.572000 20 98 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305270 61305270 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr18:61305270G>C ENST00000341074.5 - 8 971 c.856C>G c.(856-858)Cgg>Ggg p.R286G SERPINB4_ENST00000356424.6_Missense_Mutation_p.R234G NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 ATTTTGAACCGAGGTAAGTGT 0.433000 19 93 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41953120 41953120 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:41953120C>T ENST00000301831.4 - 10 1390 c.928G>A c.(928-930)Gat>Aat p.D310N ULK4_ENST00000420927.1_Missense_Mutation_p.D310N NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 310 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) TCCTTGGAATCTTGTGGCCCA 0.388000 17 53 0 0 1 0 0 MESP2 145873 broad.mit.edu 37 15 90319945 90319945 + Silent SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:90319945G>T ENST00000341735.3 + 1 357 c.357G>T c.(355-357)ctG>ctT p.L119L MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 119 Helix-loop-helix motif. Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) GCCAGAGCCTGACCAAGATCG 0.701000 6 17 3.09899e-07 3.34572e-07 1 1 0 SAV1 60485 broad.mit.edu 37 14 51132059 51132059 + Nonsense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr14:51132059C>A ENST00000324679.4 - 2 736 c.373G>T c.(373-375)Gaa>Taa p.E125* NM_021818.3 NP_068590.1 Q9H4B6 SAV1_HUMAN salvador homolog 1 (Drosophila) 125 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1)|kidney(2)|lung(2)|prostate(1) 6 all_epithelial(31;0.000611)|Breast(41;0.0333) TCTCCATTTTCAACAGCAAAA 0.408000 7 21 7.48243e-07 7.97655e-07 1 1 0 ZCCHC11 23318 broad.mit.edu 37 1 52901122 52901122 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:52901122C>A ENST00000371544.3 - 27 4437 c.4175G>T c.(4174-4176)cGc>cTc p.R1392L ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1393L NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1392 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 TACAAGGTTGCGGACCAGCTG 0.428000 18 58 1.00905e-13 1.13267e-13 1 1 0 ATAD3C 219293 broad.mit.edu 37 1 1390852 1390852 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:1390852C>T ENST00000378785.2 + 5 1386 c.391C>T c.(391-393)Cgg>Tgg p.R131W NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 131 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGTCAGCCGGCGGCTCCTCAG 0.652000 13 31 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58945763 58945763 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:58945763C>G ENST00000254166.3 - 3 1448 c.1048G>C c.(1048-1050)Gat>Cat p.D350H NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 350 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) CCACATTCATCACACTCATAA 0.418000 15 66 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904094 5904094 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:5904094G>A ENST00000378961.4 + 4 1508 c.1304G>A c.(1303-1305)aGa>aAa p.R435K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 435 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 TCTGACACCAGAGAAGAGAAA 0.557000 16 91 0 0 1 0 0 UBE2E3 10477 broad.mit.edu 37 2 181925523 181925523 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:181925523G>C ENST00000410062.4 + 5 903 c.510G>C c.(508-510)ttG>ttC p.L170F UBE2E3_ENST00000392415.2_Missense_Mutation_p.L170F|UBE2E3_ENST00000602959.1_Missense_Mutation_p.L170F|UBE2E3_ENST00000602710.1_Missense_Mutation_p.L170F|UBE2E3_ENST00000602837.1_3'UTR NM_006357.2 NP_006348.1 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 170 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1) 11 GTTCCCTTTTGACAGACTGCA 0.348000 13 57 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176289834 176289834 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:176289834G>C ENST00000329542.4 + 2 554 c.280G>C c.(280-282)Gac>Cac p.D94H NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 94 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGCAGCACAGACGGGAGCAG 0.677000 22 168 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229551 39229551 + Silent SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:39229551C>G ENST00000340369.3 - 2 1614 c.1386G>C c.(1384-1386)ggG>ggC p.G462G XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.G462G NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 462 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGCTTGGACTCCCATGGGCCA 0.567000 79 199 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114506854 114506854 + Silent SNP T T A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:114506854T>A ENST00000379618.2 - 2 637 c.129A>T c.(127-129)acA>acT p.T43T TRIM36_ENST00000282369.3_Intron|TRIM36_ENST00000514154.1_Intron NM_001017397.1 NP_001017397.1 Q9NQ86 TRI36_HUMAN tripartite motif containing 36 558 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) AGTCTGTCGCTGTGGCAAGTT 0.478000 7 99 0 0 1 0 0 DARS 1615 broad.mit.edu 37 2 136678164 136678164 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:136678164C>A ENST00000264161.4 - 10 1033 c.818G>T c.(817-819)aGa>aTa p.R273I DARS_ENST00000537273.1_Missense_Mutation_p.R173I NM_001349.2 NP_001340.2 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 273 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2) 15 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GTCTTCCGCTCTGAATACTGT 0.313000 16 68 1.33834e-09 1.46354e-09 1 1 0 DMBT1 1755 broad.mit.edu 37 10 124391388 124391388 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:124391388C>G ENST00000368909.3 + 47 6083 c.5977C>G c.(5977-5979)Cct>Gct p.P1993A DMBT1_ENST00000368955.3_Missense_Mutation_p.P1983A|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1365A|DMBT1_ENST00000344338.3_Missense_Mutation_p.P1983A|DMBT1_ENST00000359586.6_Missense_Mutation_p.P713A|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1365A|DMBT1_ENST00000338354.3_Missense_Mutation_p.P1993A NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1993 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCTATCGACACCTGGTAAGTC 0.493000 12 35 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133812364 133812364 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:133812364G>A ENST00000285928.2 + 1 313 c.244G>A c.(244-246)Gag>Aag p.E82K LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 82 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GGACCAGGGCGAGGGCGAGGC 0.617000 22 145 0 0 1 0 0 KRCC1 51315 broad.mit.edu 37 2 88327782 88327782 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:88327782G>A ENST00000347055.3 - 4 694 c.301C>T c.(301-303)Ctg>Ttg p.L101L NM_016618.1 NP_057702.1 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 101 cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 CAGTAGCTCAGAGAGTCTAGT 0.443000 25 73 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76046235 76046235 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:76046235G>C ENST00000335749.4 + 3 1661 c.1092G>C c.(1090-1092)gaG>gaC p.E364D TNRC6C_ENST00000588847.1_Missense_Mutation_p.E364D|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E364D|TNRC6C_ENST00000588061.1_Missense_Mutation_p.E364D|TNRC6C_ENST00000544502.1_Missense_Mutation_p.E364D|TNRC6C_ENST00000541771.1_Missense_Mutation_p.E364D NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 364 Gly-rich.|Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CAGGGTGGGAGAGTCCTAGTG 0.542000 53 52 0 0 1 0 0 SPIRE2 84501 broad.mit.edu 37 16 89930239 89930239 + Missense_Mutation SNP C C T rs146263316 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:89930239C>T ENST00000378247.3 + 12 1791 c.1748C>T c.(1747-1749)tCg>tTg p.S583L SPIRE2_ENST00000393062.2_Missense_Mutation_p.S583L NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 583 Cys-rich. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CCGCTGTTCTCGTGGCCGCCC 0.617000 16 80 0 0 1 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140856119 140856119 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:140856119G>A ENST00000308177.3 + 1 540 c.436G>A c.(436-438)Gag>Aag p.E146K PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGATTAGCGAGGCCGTGGC 0.547000 5 74 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88570062 88570062 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:88570062G>A ENST00000266712.6 + 10 1618 c.1398G>A c.(1396-1398)ttG>ttA p.L466L NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 466 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AGAGAGCTTTGAAATACTTCT 0.313000 15 48 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127970944 127970944 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:127970944C>T ENST00000223073.1 - 10 1171 c.1057G>A c.(1057-1059)Gag>Aag p.E353K RBM28_ENST00000415472.2_Missense_Mutation_p.E212K NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 353 RRM 3. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 TGGAGAAGCTCCCCAAGTTCT 0.423000 16 135 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891879 6891879 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:6891879C>T ENST00000307322.4 + 1 956 c.894C>T c.(892-894)ctC>ctT p.L298L NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCCTAGCCCTCAGAAACTGTA 0.453000 5 71 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201972488 201972488 + Missense_Mutation SNP T T C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:201972488T>C ENST00000295640.4 + 9 1593 c.1550T>C c.(1549-1551)cTg>cCg p.L517P RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.L478P NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 517 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) GCCGAGGAGCTGGACATGAAG 0.592000 12 48 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891559 6891559 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:6891559C>G ENST00000307322.4 + 1 636 c.574C>G c.(574-576)Ctg>Gtg p.L192V NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CGGAACCATTCTGGTGGTCAT 0.502000 45 142 0 0 1 0 0 METTL8 79828 broad.mit.edu 37 2 172195853 172195853 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:172195853C>T ENST00000375258.3 - 4 662 c.447G>A c.(445-447)gtG>gtA p.V149V B3KW44 B3KW44_HUMAN methyltransferase like 8 149 methyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 11 TTTCATCAGGCACAGTAGGAC 0.368000 19 135 0 0 1 0 0 MAGEF1 64110 broad.mit.edu 37 3 184429374 184429374 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:184429374G>A ENST00000317897.3 - 1 462 c.236C>T c.(235-237)aCg>aTg p.T79M NM_022149.4 NP_071432.2 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 79 MAGE. breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) CTCCGCCACCGTCCGATTCAG 0.612000 39 103 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29375645 29375645 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:29375645C>T ENST00000320081.5 + 9 1371 c.1116C>T c.(1114-1116)atC>atT p.I372I CLIP4_ENST00000401617.2_Silent_p.I265I|CLIP4_ENST00000401605.1_Silent_p.I372I|CLIP4_ENST00000404424.1_Silent_p.I372I NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 372 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) TACCTCTCATCAGGTCCCAGA 0.373000 14 50 0 0 1 0 0 CAMLG 819 broad.mit.edu 37 5 134077181 134077181 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:134077181C>T ENST00000297156.2 + 2 721 c.601C>T c.(601-603)Ctt>Ttt p.L201F CAMLG_ENST00000514518.1_Intron NM_001745.3 NP_001736.1 P49069 CAMLG_HUMAN calcium modulating ligand 201 defense response endoplasmic reticulum|integral to membrane NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) TCTTCTTGCTCTTGGAGTCAG 0.333000 13 109 0 0 1 0 0 HOXC11 3227 broad.mit.edu 37 12 54369146 54369146 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:54369146G>C ENST00000546378.1 + 2 980 c.864G>C c.(862-864)aaG>aaC p.K288N HOXC11_ENST00000243082.4_Missense_Mutation_p.E290Q O43248 HXC11_HUMAN homeobox C11 288 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 TGAAAGAAAAGAAACTGAGCA 0.498000 T NUP98 AML 20 52 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133767825 133767825 + Silent SNP T T C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr6:133767825T>C ENST00000367895.5 + 4 605 c.141T>C c.(139-141)acT>acC p.T47T EYA4_ENST00000430974.2_Silent_p.T47T|EYA4_ENST00000531901.1_Silent_p.T47T|EYA4_ENST00000355286.6_Silent_p.T47T|EYA4_ENST00000525849.1_Silent_p.T47T|EYA4_ENST00000355167.3_Silent_p.T47T|EYA4_ENST00000452339.2_Silent_p.T47T|EYA4_ENST00000431403.2_Silent_p.T47T NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 47 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GTGGTGATACTCCAGGTAGCT 0.448000 20 72 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 117 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53908079 53908079 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:53908079G>C ENST00000396328.1 - 15 2563 c.2324C>G c.(2323-2325)tCc>tGc p.S775C WDR72_ENST00000360509.5_Missense_Mutation_p.S775C|WDR72_ENST00000559418.1_Missense_Mutation_p.S785C|WDR72_ENST00000557913.1_Missense_Mutation_p.S772C NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 775 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) CATTTTTTTGGAGATCTTCAT 0.408000 30 186 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82815822 82815822 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:82815822C>T ENST00000265077.3 + 7 2262 c.1697C>T c.(1696-1698)tCt>tTt p.S566F VCAN_ENST00000512590.2_Missense_Mutation_p.S518F|VCAN_ENST00000342785.4_Missense_Mutation_p.S566F|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 566 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACAGTTGGATCTGATGAGAGC 0.418000 38 156 0 0 1 0 0 ATP6V0C 527 broad.mit.edu 37 16 2569287 2569287 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:2569287G>A ENST00000564543.1 + 2 1151 c.1034G>A c.(1033-1035)gGa>gAa p.G345E ATP6V0C_ENST00000564973.1_Missense_Mutation_p.E7K|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.G32E|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000330398.4_Missense_Mutation_p.E50K|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.E7K p.E50K(1) CATGCGGCCGGAGCAGATCAT 0.622000 11 73 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723297 58723297 + Nonsense_Mutation SNP G G T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:58723297G>T ENST00000300079.5 + 7 849 c.799G>T c.(799-801)Gaa>Taa p.E267* RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Nonsense_Mutation_p.E236* NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 236 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CTACAGCATGGAAAAATACCG 0.493000 10 33 6.40141e-05 6.67716e-05 1 1 0 SCAPER 49855 broad.mit.edu 37 15 76995253 76995253 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:76995253C>T ENST00000538941.2 - 19 2539 c.1600G>A c.(1600-1602)Gat>Aat p.D534N SCAPER_ENST00000563290.1_Missense_Mutation_p.D780N|SCAPER_ENST00000324767.7_Missense_Mutation_p.D780N NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 779 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 GGGGCATAATCAGTATTTGCA 0.393000 34 124 0 0 1 0 0 PTAR1 375743 broad.mit.edu 37 9 72333267 72333267 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:72333267C>G ENST00000377200.5 - 5 1046 c.1044G>C c.(1042-1044)ttG>ttC p.L348F PTAR1_ENST00000340434.4_Missense_Mutation_p.L400F Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat containing 1 400 protein prenylation protein prenyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 TTCATTGACTCAAAGTAACCA 0.393000 4 23 0 0 1 0 0 LPCAT1 79888 broad.mit.edu 37 5 1489874 1489874 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:1489874C>T ENST00000283415.3 - 4 725 c.593G>A c.(592-594)gGa>gAa p.G198E NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 198 phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TGGCCACTTTCCGTTGGACTG 0.517000 43 144 0 0 1 0 0 NEK6 10783 broad.mit.edu 37 9 127064309 127064309 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:127064309G>A ENST00000373600.3 + 3 383 c.168G>A c.(166-168)ggG>ggA p.G56G NEK6_ENST00000394199.2_Silent_p.G56G|NEK6_ENST00000540326.1_Silent_p.G40G|NEK6_ENST00000539416.1_Silent_p.G47G|NEK6_ENST00000545174.1_Silent_p.G22G|NEK6_ENST00000373603.1_Silent_p.G22G|NEK6_ENST00000320246.5_Silent_p.G22G|NEK6_ENST00000546191.1_Silent_p.G22G NM_001145001.2 NP_001138473.1 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 22 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 ACACCCTGGGGCCTGTGCATC 0.592000 4 21 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136646998 136646998 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:136646998C>T ENST00000481752.1 + 2 319 c.155C>T c.(154-156)cCt>cTt p.P52L NCK1_ENST00000288986.2_Missense_Mutation_p.P52L P16333 NCK1_HUMAN NCK adaptor protein 1 52 SH3 1. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 GGTTTTGTGCCTTCTAACTAT 0.368000 17 52 0 0 1 0 0 ZNF195 7748 broad.mit.edu 37 11 3380510 3380510 + Silent SNP T T C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:3380510T>C ENST00000354599.6 - 4 1616 c.1512A>G c.(1510-1512)aaA>aaG p.K504K ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Silent_p.K557K NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ATTTGTAGGGTTTCTCTCCAG 0.393000 4 116 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 159922446 159922446 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:159922446G>A ENST00000263635.6 + 3 261 c.24G>A c.(22-24)aaG>aaA p.K8K TANC1_ENST00000454300.1_Silent_p.K8K NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 8 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TGCTGAAGAAGAGCCGAGAGG 0.458000 35 153 0 0 1 0 0 PHKG1 5260 broad.mit.edu 37 7 56156583 56156583 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:56156583C>G ENST00000452681.2 - 2 201 c.52G>C c.(52-54)Gag>Cag p.E18Q PHKG1_ENST00000297373.2_Missense_Mutation_p.E18Q|PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000489604.1_5'UTR NM_001258459.1 NP_001245388.1 Q16816 PHKG1_HUMAN phosphorylase kinase, gamma 1 (muscle) 18 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity endometrium(1)|large_intestine(1)|lung(5) 7 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCATAATTCTCATAGAAGTCC 0.562000 12 51 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47560965 47560965 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr4:47560965G>A ENST00000273859.3 + 13 2729 c.2460G>A c.(2458-2460)caG>caA p.Q820Q AC092597.3_ENST00000508081.1_RNA NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 820 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 AGAAACAACAGATGATAGTAA 0.403000 42 104 0 0 1 0 0 RTN4RL2 349667 broad.mit.edu 37 11 57235412 57235412 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:57235412C>T ENST00000335099.3 + 2 679 c.362C>T c.(361-363)tCg>tTg p.S121L RTN4RL2_ENST00000395120.2_Missense_Mutation_p.S121L|RTN4RL2_ENST00000533205.1_Missense_Mutation_p.S121L NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 121 axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CACCTGCGCTCGCTGGAGCCC 0.647000 28 87 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27401271 27401271 + Silent SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr8:27401271G>C ENST00000521400.1 + 17 1885 c.1455G>C c.(1453-1455)ctG>ctC p.L485L EPHX2_ENST00000521780.1_Silent_p.L419L|EPHX2_ENST00000380476.3_Silent_p.L432L|EPHX2_ENST00000518379.1_Silent_p.L453L|EPHX2_ENST00000517536.1_Silent_p.L302L NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 485 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) CCCAGATCCTGATTCCGGCCC 0.602000 15 82 0 0 1 0 0 CROCCP3 114819 broad.mit.edu 37 1 16817148 16817148 + RNA SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:16817148C>T ENST00000263511.4 - 0 1119 NR_023386.1 TCCCGCTGCTCCAGCTCCTTG 0.657000 4 19 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70902626 70902626 + Silent SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr16:70902626G>A ENST00000393567.2 - 66 11307 c.11157C>T c.(11155-11157)atC>atT p.I3719I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3719 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCTTTAGGTTGATGGGTACAT 0.507000 11 41 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131859601 131859601 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:131859601C>G ENST00000359827.3 - 21 4915 c.3953G>C c.(3952-3954)aGa>aCa p.R1318T PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1318T Q9HCM2 PLXA4_HUMAN plexin A4 1318 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGTGTAAGTTCTATAGTCCAG 0.572000 35 310 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784185 9784185 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr4:9784185C>G ENST00000304374.2 + 1 928 c.532C>G c.(532-534)Ctc>Gtc p.L178V NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 178 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TCCGGTCCAGCTCAACTGGCA 0.627000 11 38 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13397674 13397674 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:13397674C>G ENST00000360228.5 - 20 3195 c.3196G>C c.(3196-3198)Gac>Cac p.D1066H CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1067H NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1067 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TTCATGTTGTCAATATCCTCT 0.672000 17 57 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52901123 52901123 + Missense_Mutation SNP G G A rs143272455 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:52901123G>A ENST00000371544.3 - 27 4436 c.4174C>T c.(4174-4176)Cgc>Tgc p.R1392C ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1393C NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1392 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 ACAAGGTTGCGGACCAGCTGG 0.433000 18 58 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 63 0.00909568 0.00925957 1 1 0 DPP10 57628 broad.mit.edu 37 2 116593822 116593822 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:116593822G>C ENST00000410059.1 + 22 2520 c.2040G>C c.(2038-2040)ttG>ttC p.L680F DPP10_ENST00000393147.2_Missense_Mutation_p.L684F|DPP10_ENST00000409163.1_Missense_Mutation_p.L630F|DPP10_ENST00000310323.8_Missense_Mutation_p.L673F NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 680 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TCACAGACTTGAAATTGTATG 0.368000 16 66 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79831884 79831884 + Nonsense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr4:79831884C>G ENST00000335016.5 + 16 2349 c.2183C>G c.(2182-2184)tCa>tGa p.S728* PAQR3_ENST00000295462.3_Intron NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 728 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 AAGAAAACCTCAGTACAGGGT 0.413000 22 41 0 0 1 0 0 DDX18 8886 broad.mit.edu 37 2 118582222 118582222 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:118582222G>C ENST00000263239.2 + 8 1272 c.1144G>C c.(1144-1146)Gag>Cag p.E382Q NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 382 Helicase ATP-binding. E -> G (in Ref. 4; CAG33341). ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCTGAAAAAGGAGCCATTGTA 0.388000 43 142 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44777994 44777994 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr19:44777994G>C ENST00000391958.2 + 5 1308 c.1181G>C c.(1180-1182)gGa>gCa p.G394A ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.G376A|ZNF235_ENST00000589799.1_Intron NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GACAGTGCTGGAGAGAGAGCC 0.448000 18 83 0 0 1 0 0 ORC4 5000 broad.mit.edu 37 2 148730380 148730380 + Silent SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:148730380C>A ENST00000535373.1 - 5 585 c.153G>T c.(151-153)ctG>ctT p.L51L ORC4_ENST00000392858.1_Silent_p.L51L|ORC4_ENST00000540442.1_5'UTR|ORC4_ENST00000392857.4_Silent_p.L51L|ORC4_ENST00000264169.2_Silent_p.L51L|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000536575.1_Intron NM_001190879.2 NP_001177808.1 O43929 ORC4_HUMAN origin recognition complex, subunit 4 51 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 14 CAGTTCTTTTCAGCAGCTCAC 0.348000 9 57 1.08611e-07 1.17633e-07 1 1 0 HRG 3273 broad.mit.edu 37 3 186395478 186395478 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:186395478C>T ENST00000232003.4 + 7 1464 c.1384C>T c.(1384-1386)Cct>Tct p.P462S NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 462 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GTACCGACTCCCTCCTCTAAG 0.557000 26 79 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 93225895 93225895 + Splice_Site SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr4:93225895G>A ENST00000282020.4 + 1 346 c.88_splice c.e1+1 p.G30_splice GRID2_ENST00000510992.1_Splice_Site_p.G30_splice|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 30 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CATTCACATCGGTAAGAAAGT 0.502000 14 59 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20475779 20475779 + Silent SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:20475779C>A ENST00000202677.6 - 36 5491 c.5349G>T c.(5347-5349)gcG>gcT p.A1783A NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1783 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TCTTCGTTATCGCGATGAAGA 0.388000 4 175 0.00024832 0.000257433 1 1 0 ARMCX6 54470 broad.mit.edu 37 X 100871508 100871508 + Nonsense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chrX:100871508C>A ENST00000539247.1 - 4 535 c.103G>T c.(103-105)Gag>Tag p.E35* ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Nonsense_Mutation_p.E35*|ARMCX6_ENST00000361910.4_Nonsense_Mutation_p.E35* NM_001184768.1 NP_001171697.1 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 35 integral to membrane endometrium(3)|kidney(1)|liver(2)|lung(3) 9 tccagcttctcACTGTCATCT 0.562000 16 35 3.52763e-06 3.72544e-06 1 1 0 IL20RB 53833 broad.mit.edu 37 3 136701011 136701011 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:136701011G>C ENST00000329582.4 + 3 474 c.225G>C c.(223-225)gaG>gaC p.E75D IL20RB_ENST00000309741.5_Missense_Mutation_p.E28D|IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000484501.1_Intron NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 75 Fibronectin type-III 1. integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GGGAGTACGAGAGCCTGTACA 0.532000 17 55 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220273987 220273987 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:220273987G>C ENST00000366922.1 + 3 661 c.330G>C c.(328-330)aaG>aaC p.K110N IARS2_ENST00000302637.5_Missense_Mutation_p.K182N Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 182 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) AAATTAGAAAGAAAGGTAAAT 0.353000 9 35 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55175851 55175851 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:55175851G>C ENST00000421030.2 + 24 4248 c.3963G>C c.(3961-3963)ttG>ttC p.L1321F MROH7_ENST00000409996.1_Missense_Mutation_p.L889F|MROH7_ENST00000454855.2_Missense_Mutation_p.L839F|MROH7_ENST00000414150.2_Intron NM_001039464.2 NP_001034553.2 maestro heat-like repeat family member 7 AGATGTCCTTGAAGAAGTGAC 0.582000 13 41 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389198 1389198 + Missense_Mutation SNP C C T rs71299249 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr4:1389198C>T ENST00000324803.4 + 1 3859 c.899C>T c.(898-900)cCg>cTg p.P300L NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 300 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GTGGAGTGCCCGCCTGCTCAC 0.677000 7 401 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152329308 152329308 + Silent SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:152329308C>T ENST00000388718.5 - 3 1026 c.954G>A c.(952-954)caG>caA p.Q318Q FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 318 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAATTCCTGACTGACAGCCTG 0.483000 59 294 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68530098 68530098 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr11:68530098C>G ENST00000265641.5 - 15 2026 c.1872G>C c.(1870-1872)caG>caC p.Q624H CPT1A_ENST00000540367.1_Missense_Mutation_p.Q624H|CPT1A_ENST00000539743.1_Missense_Mutation_p.Q624H|CPT1A_ENST00000376618.2_Missense_Mutation_p.Q624H|CPT1A_ENST00000537756.2_5'UTR NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 624 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) ACATTACCGTCTGGGCCGGGT 0.597000 14 73 0 0 1 0 0 PAIP1 10605 broad.mit.edu 37 5 43529946 43529946 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:43529946C>G ENST00000306846.3 - 10 1520 c.1288G>C c.(1288-1290)Gag>Cag p.E430Q PAIP1_ENST00000436644.2_Missense_Mutation_p.E351Q|PAIP1_ENST00000338972.4_Missense_Mutation_p.E318Q|PAIP1_ENST00000514514.1_Intron NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 430 mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) AAAAAGTCCTCTCTTTCAAGT 0.348000 14 58 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328282 152328282 + Silent SNP T T C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:152328282T>C ENST00000388718.5 - 3 2052 c.1980A>G c.(1978-1980)tcA>tcG p.S660S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 660 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCTGAGCCTGATCCATATT 0.488000 7 436 0 0 1 0 0 PTPN2 5771 broad.mit.edu 37 18 12859241 12859241 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr18:12859241C>T ENST00000309660.5 - 2 175 c.82G>A c.(82-84)Gag>Aag p.E28K PTPN2_ENST00000589086.1_5'UTR|PTPN2_ENST00000591115.1_Missense_Mutation_p.E28K|PTPN2_ENST00000353319.4_Missense_Mutation_p.E28K|PTPN2_ENST00000327283.3_Missense_Mutation_p.E28K NM_002828.3 NP_002819.2 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 2 28 Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3) 13 Lung NSC(161;8.94e-06) TCATGGGACTCATTTCGAATT 0.358000 10 51 0 0 1 0 0 CRIP3 401262 broad.mit.edu 37 6 43274007 43274007 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr6:43274007G>C ENST00000372569.3 - 6 449 c.445C>G c.(445-447)Ctg>Gtg p.L149V CRIP3_ENST00000274990.4_Missense_Mutation_p.L149V NM_206922.2 NP_996805.2 Q6Q6R5 CRIP3_HUMAN cysteine-rich protein 3 149 LIM zinc-binding 2. cytoplasm zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) TGGCACCTCAGACACGGTCGG 0.547000 20 92 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95658444 95658444 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr8:95658444G>C ENST00000433389.2 + 4 614 c.424G>C c.(424-426)Gaa>Caa p.E142Q ESRP1_ENST00000423620.2_Missense_Mutation_p.E142Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.E142Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.E142Q NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 142 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TCTTCGAAAAGAATTCAAGAA 0.353000 23 109 0 0 1 0 0 LEPRE1 64175 broad.mit.edu 37 1 43212771 43212771 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr1:43212771G>A ENST00000236040.4 - 14 2267 c.2227C>T c.(2227-2229)Ctc>Ttc p.L743F LEPRE1_ENST00000296388.5_Intron|LEPRE1_ENST00000462474.1_Intron|LEPRE1_ENST00000397054.3_Intron NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 0 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GGCCCAGGGAGGACAAGGCAA 0.567000 4 96 0 0 1 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25366682 25366682 + Missense_Mutation SNP C C T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr4:25366682C>T ENST00000302874.4 + 12 1324 c.1300C>T c.(1300-1302)Cca>Tca p.P434S NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 434 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) CTGTGCTGTTCCAGATCATTC 0.383000 24 86 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5568044 5568044 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr7:5568044C>G ENST00000331789.5 - 4 861 c.670G>C c.(670-672)Gag>Cag p.E224Q NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 224 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) ATCTCTTGCTCGAAGTCCAGG 0.607000 25 148 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131471786 131471786 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:131471786G>C ENST00000261654.5 + 6 1196 c.637G>C c.(637-639)Gag>Cag p.E213Q GPR133_ENST00000535015.1_Missense_Mutation_p.E245Q NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 213 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GATAGGGTCTGAGCAGGACCA 0.537000 31 185 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78915478 78915478 + Missense_Mutation SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr5:78915478C>G ENST00000453514.1 + 2 700 c.7C>G c.(7-9)Cca>Gca p.P3A PAPD4_ENST00000504233.1_Missense_Mutation_p.P3A|PAPD4_ENST00000423041.2_Missense_Mutation_p.P3A|PAPD4_ENST00000296783.3_Missense_Mutation_p.P3A|PAPD4_ENST00000428308.2_Missense_Mutation_p.P3A NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 3 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) GAGCATGTTCCCAAACTCAAT 0.358000 20 42 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220313717 220313717 + Frame_Shift_Del DEL C C - TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr2:220313717delC ENST00000312358.7 + 4 1969 c.1837delC c.(1837-1839)ccfs p.P614fs SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Frame_Shift_Del_p.P510fs NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 614 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCTGTGCCGCCCCCCGCCGC 0.741 2 4 --- --- --- --- DNAH12 201625 broad.mit.edu 37 3 57494923 57494924 + In_Frame_Ins INS - - ACA TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:57494923_57494924insACA ENST00000351747.2 - 6 665_666 c.485_486insTGT c.(484-486)gaa>gTGTaa p.162_162E>V* DNAH12_ENST00000311202.6_In_Frame_Ins_p.162_162E>V*|DNAH12_ENST00000389536.4_In_Frame_Ins_p.162_162E>V* NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 162 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 CTGGTGGTTTCACAAGAACGCT 0.322 8 123 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 4 3 --- --- --- --- ANKRD17 26057 broad.mit.edu 37 4 74005309 74005311 + In_Frame_Del DEL TTG TTG - TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr4:74005309_74005311delTTG ENST00000358602.4 - 15 3138_3140 c.3022_3024delCAA c.(3022-3024)del p.Q1008del ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_In_Frame_Del_p.Q895del|ANKRD17_ENST00000514252.1_5'UTR NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1008 Gln-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCATTAACCCTTGTTGTGTTTCT 0.483 12 53 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161413044 161413045 + In_Frame_Ins INS - - CCG TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr6:161413044_161413045insCCG ENST00000392142.4 + 1 229_230 c.81_82insCCG c.(79-84)cccgcc>ccCCGcgcc p.27_28PA>PRA MAP3K4_ENST00000366919.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366920.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000348824.7_In_Frame_Ins_p.27_28PA>PRA NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 27 Poly-Pro. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) Agccgccgccaccgccgccgcc 0.738 6 2 --- --- --- --- CKS2 1164 broad.mit.edu 37 9 91930174 91930175 + Frame_Shift_Del DEL AG AG - TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr9:91930174_91930175delAG ENST00000314355.6 + 2 244_245 c.149_150delAG c.(148-150)cfs p.Q50fs NM_001827.1 NP_001818.1 P33552 CKS2_HUMAN CDC28 protein kinase regulatory subunit 2 50 cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization cyclin-dependent protein kinase regulator activity kidney(1)|large_intestine(1) 2 GGTGTCCAACAGAGTCTAGGCT 0.401 41 188 --- --- --- --- DOCK1 1793 broad.mit.edu 37 10 128904494 128904494 + Splice_Site DEL G G - TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr10:128904494delG ENST00000280333.6 + 24 2491 c.e24-1 NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TTGATTTGCAGGGGGCAGCAC 0.448 5 8 --- --- --- --- CDK2 1017 broad.mit.edu 37 12 56365344 56365344 + Frame_Shift_Del DEL A A - rs148619120 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:56365344delA ENST00000266970.4 + 7 1072 c.832delA c.(832-834)agfs p.K278fs CDK2_ENST00000440311.2_Frame_Shift_Del_p.K218fs|CDK2_ENST00000354056.4_Frame_Shift_Del_p.K244fs|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000553376.1_Frame_Shift_Del_p.K326fs NM_001798.3 NP_001789.2 P24941 CDK2_HUMAN cyclin-dependent kinase 2 278 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol ATP binding|cyclin-dependent protein kinase activity|identical protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235) GATTTCGGCCAAGGCAGCCCT 0.527 12 285 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132446446 132446448 + In_Frame_Del DEL GAG GAG - rs62635809 byFrequency TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr12:132446446_132446448delGAG ENST00000333577.4 + 2 1391_1393 c.1282_1284delGAG c.(1282-1284)del p.E437del EP400_ENST00000330386.6_In_Frame_Del_p.E437del|EP400_ENST00000389562.2_In_Frame_Del_p.E437del|EP400_ENST00000389561.2_In_Frame_Del_p.E437del|EP400_ENST00000332482.4_In_Frame_Del_p.E437del Q96L91 EP400_HUMAN E1A binding protein p400 437 Poly-Glu. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.E428E(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CATTgaagaagaggaggaggagg 0.379 7 100 --- --- --- --- TPTE2P2 644623 broad.mit.edu 37 13 52857402 52857402 + RNA DEL A A - TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr13:52857402delA ENST00000451298.1 - 0 303 RP11-64P12.8_ENST00000606031.1_RNA ACTTAACGTCAAAAAAAATGT 0.289 3 6 --- --- --- --- UBE2Q2P1 388165 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 5 9 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29664546 29664547 + Frame_Shift_Del DEL TT TT - TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr17:29664546_29664547delTT ENST00000358273.4 + 43 6971_6972 c.6588_6589delTT c.(6586-6591)acttfs p.TF2196fs NF1_ENST00000356175.3_Frame_Shift_Del_p.TF2175fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2196 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.?(3) 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) AGAGAGAGACTTTTGCTTTGAC 0.416 """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) 46 141 --- --- --- --- ROCK1P1 727758 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr18:112402_112405delAACC ENST00000576266.1 + 0 36_39 CCCTGCCCCGAACCACCCGACCCC 0.711 5 9 --- --- --- --- XRN2 22803 broad.mit.edu 37 20 21349164 21349164 + Frame_Shift_Del DEL T T - TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:21349164delT ENST00000377191.3 + 27 2615 c.2520delT c.(2518-2520)acfs p.T840fs XRN2_ENST00000539513.1_Frame_Shift_Del_p.T786fs|XRN2_ENST00000430571.2_Frame_Shift_Del_p.T764fs NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 840 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 CACCTGTGACTTACCAGGGAA 0.398 29 165 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 8 200 --- --- --- --- NRK 203447 broad.mit.edu 37 X 105125740 105125740 + Frame_Shift_Del DEL A A - TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4e16923-0e7d-45f1-8fbc-e689b643c905 269d2438-de7c-4706-8e4a-991d4694f9e7 g.chrX:105125740delA ENST00000428173.2 + 4 523 c.220delA c.(220-222)aafs p.K74fs NRK_ENST00000536164.1_Frame_Shift_Del_p.K74fs|NRK_ENST00000243300.9_Frame_Shift_Del_p.K74fs Q7Z2Y5 NRK_HUMAN Nik related kinase 74 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GAGAGTGAATAAATATCAAAA 0.338 HNSCC(51;0.14) 2 4 --- --- --- ---