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 SLC12A2 6558 broad.mit.edu 37 5 127497454 127497454 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:127497454G>A ENST00000262461.2 + 17 2767 c.2578G>A c.(2578-2580)Gca>Aca p.A860T SLC12A2_ENST00000343225.4_Missense_Mutation_p.A860T NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 860 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCCAGTACATGCAGATGACTT 0.363000 9 37 0 0 0.080935 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228333 142228333 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:142228333C>A ENST00000519067.1 - 4 1556 c.1253G>T c.(1252-1254)cGg>cTg p.R418L SLC45A4_ENST00000024061.3_Missense_Mutation_p.R418L|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R411L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R469L Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 469 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GTTCCGGTGCCGGTGCTGCCG 0.692000 18 33 8.34094e-07 9.30831e-07 0.049695 1 0 DHDDS 79947 broad.mit.edu 37 1 26784337 26784337 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:26784337C>G ENST00000360009.2 + 7 675 c.598C>G c.(598-600)Cct>Gct p.P200A DHDDS_ENST00000525682.2_Missense_Mutation_p.P166A|DHDDS_ENST00000526219.1_Missense_Mutation_p.P161A|DHDDS_ENST00000236342.7_Missense_Mutation_p.P200A NM_024887.3|NM_205861.2 NP_079163.2|NP_995583.1 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase 200 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 15 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) CTCTCCTCATCCTGACATCTT 0.458000 33 140 0 0 0.139131 0 0 CSMD3 114788 broad.mit.edu 37 8 113694814 113694814 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:113694814C>A ENST00000297405.5 - 16 2778 c.2534G>T c.(2533-2535)cGg>cTg p.R845L CSMD3_ENST00000343508.3_Missense_Mutation_p.R805L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R741L|CSMD3_ENST00000352409.3_Missense_Mutation_p.R845L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 845 Sushi 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTCCCCAAACCGCCGTGCATT 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 60 83 3.82274e-22 5.23812e-22 0.139131 1 0 TAAR6 319100 broad.mit.edu 37 6 132892095 132892095 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:132892095T>C ENST00000275198.1 + 1 635 c.635T>C c.(634-636)aTt>aCt p.I212T NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 212 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) CCTACCTTTATTATGATAATT 0.368000 26 21 0 0 0.116897 0 0 OR7E24 26648 broad.mit.edu 37 19 9361818 9361818 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:9361818G>T ENST00000456448.1 + 1 213 c.99G>T c.(97-99)ctG>ctT p.L33L NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCTCCTCCTGGGACTCTCAG 0.512000 23 31 9.86323e-18 1.27486e-17 0.091800 1 0 DSC2 1824 broad.mit.edu 37 18 28671061 28671061 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr18:28671061C>A ENST00000280904.6 - 4 847 c.404G>T c.(403-405)aGa>aTa p.R135I DSC2_ENST00000251081.6_Missense_Mutation_p.R135I NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 135 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) AGCCCATCTTCTCTTGGCGCG 0.388000 5 7 2.7689e-08 3.15508e-08 0.029380 1 0 MUC16 94025 broad.mit.edu 37 19 9021061 9021061 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:9021061T>A ENST00000397910.4 - 19 37465 c.37262A>T c.(37261-37263)cAg>cTg p.Q12421L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12423 SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACCAGACCCTGCAGGACCCT 0.547000 97 104 0 0 0.139131 0 0 MARCH3 115123 broad.mit.edu 37 5 126214019 126214019 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:126214019A>T ENST00000308660.5 - 4 975 c.461T>A c.(460-462)tTt>tAt p.F154Y NM_178450.3 NP_848545.1 Q86UD3 MARH3_HUMAN membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase 154 endocytosis cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome ligase activity|zinc ion binding large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793) GGGAGTTATAAACAAGAAGCA 0.592000 9 28 0 0 0.069234 0 0 INTS8 55656 broad.mit.edu 37 8 95866086 95866086 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:95866086A>T ENST00000523731.1 + 14 1828 c.1695A>T c.(1693-1695)ttA>ttT p.L565F INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.L565F NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 565 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) AAGACAATTTAACAAGAGATT 0.333000 31 126 0 0 0.086207 0 0 KRT37 8688 broad.mit.edu 37 17 39578657 39578657 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:39578657C>A ENST00000225550.3 - 4 761 c.762G>T c.(760-762)ggG>ggT p.G254G AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 254 Linker 12.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) GGAACTTCTCCCCCAGCTGAC 0.557000 112 277 2.2589e-70 3.74752e-70 0.139131 1 0 ATP8A2 51761 broad.mit.edu 37 13 26144947 26144947 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr13:26144947G>A ENST00000381655.2 + 17 1658 c.1516G>A c.(1516-1518)Gtg>Atg p.V506M ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.V466M NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 466 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CCTTCTGGCCGTGTGCCACAC 0.587000 61 48 0 0 0.139131 0 0 SAMD9 54809 broad.mit.edu 37 7 92730817 92730817 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:92730817C>G ENST00000379958.2 - 3 4863 c.4594G>C c.(4594-4596)Ggt>Cgt p.G1532R NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1532 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TCAGCTCGACCTTGTAAACGA 0.383000 9 41 0 0 0.058154 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672872 141672872 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:141672872G>A ENST00000547270.1 - 1 701 c.618C>T c.(616-618)ttC>ttT p.F206F NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 206 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GAAACAATAGGAAAGGAGGCA 0.438000 12 78 0 0 0.033300 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119805412 119805412 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:119805412T>A ENST00000355624.3 - 1 702 c.263A>T c.(262-264)cAc>cTc p.H88L RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.H88L NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 88 C2.|Necessary for its cellular translocation to the plasma membrane. protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) CAGGGACCTGTGCATAACTAT 0.433000 17 47 0 0 0.049695 0 0 MLEC 9761 broad.mit.edu 37 12 121131925 121131925 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:121131925G>A ENST00000228506.3 + 2 695 c.267G>A c.(265-267)ctG>ctA p.L89L MLEC_ENST00000412616.2_Silent_p.L89L NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 89 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 TGCCAATCCTGCGTTCCAACC 0.498000 8 33 0 0 0.047766 0 0 PRR5L 79899 broad.mit.edu 37 11 36459026 36459026 + Splice_Site SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:36459026G>C ENST00000378867.3 + 7 799 c.444_splice c.e7+1 p.Q148_splice PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Splice_Site_p.Q122_splice|PRR5L_ENST00000530639.1_Splice_Site_p.Q148_splice|PRR5L_ENST00000527487.1_Splice_Site_p.Q148_splice NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 148 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 ATCCAGTTCAGGTTAGTCTCA 0.512000 29 76 0 0 0.144211 0 0 COASY 80347 broad.mit.edu 37 17 40716755 40716755 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:40716755A>G ENST00000393818.2 + 4 1532 c.1076A>G c.(1075-1077)tAt>tGt p.Y359C COASY_ENST00000421097.2_Missense_Mutation_p.Y359C|COASY_ENST00000449624.1_Missense_Mutation_p.Y64C|COASY_ENST00000420359.1_Missense_Mutation_p.Y359C|COASY_ENST00000590958.1_Missense_Mutation_p.Y388C NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 359 coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) ACATGTCTCTATGTAATTGGG 0.587000 51 232 0 0 0.139131 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719026 140719026 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:140719026G>T ENST00000394576.2 + 1 488 c.488G>T c.(487-489)gGt>gTt p.G163V PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGACGTAGGTGAGAACGCC 0.527000 50 130 2.17126e-26 3.08247e-26 0.139131 1 0 SLC14A2 8170 broad.mit.edu 37 18 43223096 43223096 + Splice_Site SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr18:43223096G>T ENST00000255226.6 + 9 1942 c.e9-1 SLC14A2_ENST00000586448.1_Splice_Site NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTCCTCCACAGCCCTGTTCTG 0.552000 43 30 1.67886e-27 2.40711e-27 0.139131 1 0 PCLO 27445 broad.mit.edu 37 7 82585973 82585973 + Silent SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:82585973T>A ENST00000423517.2 - 5 4633 c.4296A>T c.(4294-4296)tcA>tcT p.S1432S PCLO_ENST00000333891.8_Silent_p.S1432S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1363 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTTCTTTTCTGACTTTTCAT 0.398000 12 37 0 0 0.132662 0 0 TBX20 57057 broad.mit.edu 37 7 35289649 35289649 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:35289649G>T ENST00000408931.3 - 2 820 c.294C>A c.(292-294)gcC>gcA p.A98A NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 98 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 AGGCAATTTTGGCCATTTCCT 0.582000 9 35 1.58986e-06 1.76516e-06 0.069234 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 26 18 6.84511e-11 8.09818e-11 0.059317 1 0 NPAP1 23742 broad.mit.edu 37 15 24921886 24921886 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr15:24921886G>T ENST00000329468.2 + 1 1346 c.872G>T c.(871-873)gGc>gTc p.G291V NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGCTCCCTAGGCTTGCCGATT 0.612000 36 24 1.02591e-13 1.25485e-13 0.117977 1 0 SFRP2 6423 broad.mit.edu 37 4 154702676 154702676 + Nonsense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:154702676G>T ENST00000274063.4 - 3 1099 c.815C>A c.(814-816)tCg>tAg p.S272* NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 272 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) CCGCTTCACCGAGGTGATCAC 0.592000 35 68 5.20837e-25 7.29846e-25 0.104719 1 0 S100A16 140576 broad.mit.edu 37 1 153580051 153580051 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:153580051C>A ENST00000368704.1 - 3 456 c.271G>T c.(271-273)Gcc>Tcc p.A91S S100A16_ENST00000368703.2_Missense_Mutation_p.A91S|S100A16_ENST00000368706.4_Missense_Mutation_p.A91S|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368705.2_Missense_Mutation_p.A91S Q96FQ6 S10AG_HUMAN S100 calcium binding protein A16 91 cytosol|nucleolus calcium ion binding|protein homodimerization activity breast(1)|large_intestine(1)|prostate(1) 3 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) ATGAGTTTGGCGATGGGGCCG 0.602000 62 54 1.37693e-34 2.07739e-34 0.139131 1 0 COL12A1 1303 broad.mit.edu 37 6 75797446 75797446 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:75797446T>C ENST00000322507.8 - 65 9337 c.9028A>G c.(9028-9030)Aga>Gga p.R3010G COL12A1_ENST00000483888.2_Missense_Mutation_p.R3006G|COL12A1_ENST00000416123.2_Missense_Mutation_p.R2934G|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1846G NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 3010 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGACCTGTTCTGGATTCTCCT 0.527000 15 41 0 0 0.146539 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76461484 76461484 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:76461484G>A ENST00000307431.8 + 5 908 c.523G>A c.(523-525)Gga>Aga p.G175R CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G175R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G151R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G179R NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 176 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CGAAGTGTTCGGATGTGCATA 0.398000 15 10 0 0 0.132662 0 0 HKR1 284459 broad.mit.edu 37 19 37853986 37853986 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:37853986G>A ENST00000591471.1 + 9 2111 c.470G>A c.(469-471)aGa>aAa p.R157K HKR1_ENST00000544914.1_Missense_Mutation_p.R157K|HKR1_ENST00000392153.3_Missense_Mutation_p.R411K|HKR1_ENST00000541583.2_Missense_Mutation_p.R369K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Missense_Mutation_p.R430K|HKR1_ENST00000589392.1_Missense_Mutation_p.R412K P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 430 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CACCTCATCAGACACTTAAGG 0.478000 5 53 0 0 0.014758 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73181665 73181665 + Silent SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:73181665T>C ENST00000286657.4 - 11 1545 c.1509A>G c.(1507-1509)aaA>aaG p.K503K NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 503 Disintegrin. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACCACAGCTGTTTACATGGGT 0.398000 21 23 0 0 0.134883 0 0 DSG4 147409 broad.mit.edu 37 18 28986106 28986106 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr18:28986106T>A ENST00000359747.4 + 12 1732 c.1703T>A c.(1702-1704)gTg>gAg p.V568E RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.V568E|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 568 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCAATCCTGGTGAAGGACAGC 0.458000 19 25 0 0 0.069288 0 0 POU4F2 5458 broad.mit.edu 37 4 147560397 147560397 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:147560397C>A ENST00000281321.3 + 1 353 c.105C>A c.(103-105)ggC>ggA p.G35G NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 35 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CCTCGCCGGGCTCCTCGGCTC 0.731000 4 9 0.014758 0.0150358 0.014758 1 0 C11orf82 220042 broad.mit.edu 37 11 82644264 82644264 + Silent SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:82644264C>T ENST00000533655.1 + 6 2096 c.1884C>T c.(1882-1884)tgC>tgT p.C628C C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.C628C|C11orf82_ENST00000329143.3_Silent_p.C327C NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 628 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 TTACAATTTGCAGGAAACTTA 0.318000 15 49 0 0 0.119110 0 0 TRAV19 28664 broad.mit.edu 37 14 22476385 22476385 + RNA SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:22476385G>C ENST00000390447.3 + 0 432 CACAAGTCGTGGACTCAGCAG 0.493000 5 10 0 0 0.029380 0 0 DGKB 1607 broad.mit.edu 37 7 14722260 14722260 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:14722260G>T ENST00000403951.2 - 12 1372 c.953C>A c.(952-954)cCa>cAa p.P318Q DGKB_ENST00000399322.3_Missense_Mutation_p.P318Q|DGKB_ENST00000444700.2_Missense_Mutation_p.P311Q|DGKB_ENST00000258767.5_Missense_Mutation_p.P318Q|DGKB_ENST00000402815.1_Missense_Mutation_p.P318Q|DGKB_ENST00000407950.1_Missense_Mutation_p.P311Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.P318Q Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 318 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) ACACTTGGTTGGGCAGTTACC 0.428000 55 112 2.05175e-36 3.1282e-36 0.139131 1 0 NACA2 342538 broad.mit.edu 37 17 59668348 59668348 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:59668348C>A ENST00000521764.1 - 1 215 c.194G>T c.(193-195)gGt>gTt p.G65V NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 65 protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TTTTGCTTTACCGACTGGTTC 0.483000 90 177 4.04957e-52 6.59197e-52 0.139131 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32893929 32893929 + RNA SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:32893929G>T ENST00000330048.5 - 0 1328 NR_003083.2 CACTGGCACAGTCTTCATGGC 0.592000 71 335 2.77303e-49 4.4803e-49 0.139131 1 0 POU1F1 5449 broad.mit.edu 37 3 87313652 87313652 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:87313652G>T ENST00000350375.2 - 3 349 c.225C>A c.(223-225)acC>acA p.T75T POU1F1_ENST00000560656.1_Silent_p.T75T|POU1F1_ENST00000344265.3_Silent_p.T101T NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 75 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) AAAGACAAGGGGTTAAACTAC 0.403000 23 27 3.6726e-16 4.63626e-16 0.091800 1 0 AP1G2 8906 broad.mit.edu 37 14 24034374 24034374 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:24034374C>T ENST00000308724.5 - 7 1531 c.776G>A c.(775-777)cGg>cAg p.R259Q AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R259Q NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 259 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CTCGTGGTTCCGGCCCAGGAT 0.577000 21 62 0 0 0.099896 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20128758 20128758 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr22:20128758C>T ENST00000334554.7 + 8 1054 c.913C>T c.(913-915)Cgg>Tgg p.R305W ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R305W|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R213W NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 305 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) CAGCCTGGACCGGCTGGATGA 0.662000 29 35 0 0 0.045705 0 0 CBLN2 147381 broad.mit.edu 37 18 70209181 70209181 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr18:70209181G>T ENST00000269503.4 - 3 988 c.215C>A c.(214-216)cCg>cAg p.P72Q CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.P72Q|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 72 integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) GTCCGCCGACGGGCTGGAGTC 0.711000 12 6 1.52009e-12 1.83342e-12 0.132662 1 0 ZFPM2 23414 broad.mit.edu 37 8 106814523 106814523 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:106814523G>T ENST00000407775.2 + 8 2463 c.2213G>T c.(2212-2214)cGc>cTc p.R738L RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469L|RP11-152P17.2_ENST00000518932.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 738 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACACGCAAGCGCAGAAAGATG 0.507000 4 22 0.014758 0.0150358 0.014758 1 0 CACNA1A 773 broad.mit.edu 37 19 13423559 13423559 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:13423559G>T ENST00000360228.5 - 12 1591 c.1592C>A c.(1591-1593)tCc>tAc p.S531Y CACNA1A_ENST00000573710.2_Missense_Mutation_p.S532Y 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 532 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) AAACATTTCGGACATAAAGAG 0.463000 20 34 1.64293e-13 2.00392e-13 0.083992 1 0 PROKR1 10887 broad.mit.edu 37 2 68873388 68873388 + Silent SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:68873388T>C ENST00000303786.3 + 2 855 c.435T>C c.(433-435)acT>acC p.T145T PROKR1_ENST00000394342.2_Silent_p.T145T Q8TCW9 PKR1_HUMAN prokineticin receptor 1 145 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 ACCTGCGCACTGTCTCTCTCT 0.597000 56 102 0 0 0.139131 0 0 PRDM9 56979 broad.mit.edu 37 5 23527693 23527693 + Silent SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:23527693T>C ENST00000296682.3 + 11 2678 c.2496T>C c.(2494-2496)taT>taC p.Y832Y NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 832 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.Y832Y(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGAAGCCCTATGTCTGCAGGG 0.587000 HNSCC(3;0.000094) 6 235 0 0 0.021553 0 0 MPV17L2 84769 broad.mit.edu 37 19 18305841 18305841 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:18305841A>T ENST00000599612.2 + 4 609 c.509A>T c.(508-510)tAc>tTc p.Y170F MPV17L2_ENST00000534474.2_Silent_p.L144L NM_032683.2 NP_116072.2 Q567V2 M17L2_HUMAN MPV17 mitochondrial membrane protein-like 2 170 integral to membrane large_intestine(1)|lung(2)|urinary_tract(1) 4 CGAGTCACCTACATCAACGGC 0.642000 99 128 0 0 0.139131 0 0 COL11A1 1301 broad.mit.edu 37 1 103491809 103491809 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:103491809C>A ENST00000370096.3 - 6 1172 c.860G>T c.(859-861)gGa>gTa p.G287V COL11A1_ENST00000512756.1_Missense_Mutation_p.G287V|COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000353414.4_Intron NM_001854.3 NP_001845.3 P12107 COBA1_HUMAN collagen, type XI, alpha 1 287 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TACAGTGGGTCCCTCTGTTAC 0.433000 63 61 4.90955e-16 6.17976e-16 0.139131 1 0 EPHA3 2042 broad.mit.edu 37 3 89521687 89521687 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:89521687G>T ENST00000336596.2 + 16 2989 c.2764G>T c.(2764-2766)Ggt>Tgt p.G922C EPHA3_ENST00000494014.1_Intron NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 922 SAM. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTGGCTTAATGGTGTCTGGAC 0.438000 TSP Lung(6;0.00050) 47 85 6.52717e-41 1.03148e-40 0.139131 1 0 CCDC81 60494 broad.mit.edu 37 11 86086261 86086261 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:86086261C>T ENST00000445632.2 + 1 328 c.56C>T c.(55-57)aCt>aTt p.T19I CCDC81_ENST00000354755.1_Missense_Mutation_p.T19I|CCDC81_ENST00000278487.3_5'UTR NM_001156474.1 NP_001149946.1 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 19 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) GTGCTGCCCACTCTGCCCTCG 0.617000 45 160 0 0 0.139131 0 0 CEP350 9857 broad.mit.edu 37 1 179966310 179966310 + Splice_Site SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:179966310G>A ENST00000367607.3 + 6 1436 c.1018_splice c.e6+1 p.G340_splice NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 340 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AGCATATAAAGGTTTGTAATC 0.403000 26 173 0 0 0.134883 0 0 GRID1 2894 broad.mit.edu 37 10 87362377 87362377 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:87362377G>T ENST00000327946.7 - 16 2768 c.2683C>A c.(2683-2685)Cca>Aca p.P895T GRID1_ENST00000536331.1_Missense_Mutation_p.P466T|GRID1_ENST00000552278.2_5'UTR NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 895 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) ATCGACGCTGGGGAAATCTGC 0.592000 Multiple Myeloma(13;0.14) 4 18 4.096e-09 4.71694e-09 0.021553 1 0 ATP13A1 57130 broad.mit.edu 37 19 19766235 19766235 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:19766235T>A ENST00000357324.6 - 11 1450 c.1424A>T c.(1423-1425)tAc>tTc p.Y475F ATP13A1_ENST00000291503.5_Missense_Mutation_p.Y357F|ATP13A1_ENST00000496082.1_5'UTR NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 475 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AAACAGCTTGTAGCGGTTCCG 0.657000 11 22 0 0 0.119110 0 0 ZNF257 113835 broad.mit.edu 37 19 22272138 22272138 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:22272138A>G ENST00000594947.1 + 4 1730 c.1586A>G c.(1585-1587)tAc>tGc p.Y529C NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) CGTTTCTCATACCTTACCGTA 0.373000 11 33 0 0 0.105934 0 0 BCL11B 64919 broad.mit.edu 37 14 99724031 99724031 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:99724031C>A ENST00000345514.2 - 2 470 c.204G>T c.(202-204)ggG>ggT p.G68G BCL11B_ENST00000357195.3_Silent_p.G68G|BCL11B_ENST00000443726.2_Intron NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 0 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCAGGATGTCCCCCAAGGGGA 0.597000 T TLX3 T-ALL 40 55 2.9001e-28 4.19981e-28 0.139131 1 0 FZD5 7855 broad.mit.edu 37 2 208632656 208632656 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:208632656G>A ENST00000295417.3 - 2 1361 c.808C>T c.(808-810)Ccc>Tcc p.P270S NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 270 angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) AAGATGATGGGGCGCTCAGGA 0.622000 3 8 0 0 0.009096 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524000 24524000 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:24524000C>A ENST00000376862.3 + 2 900 c.267C>A c.(265-267)ccC>ccA p.P89P NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 89 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 GCTACCGGCCCAACATCATCC 0.667000 35 87 6.97489e-18 9.04229e-18 0.074837 1 0 TRIM54 57159 broad.mit.edu 37 2 27521572 27521572 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:27521572G>T ENST00000296098.4 + 2 576 c.306G>T c.(304-306)gaG>gaT p.E102D TRIM54_ENST00000380075.2_Missense_Mutation_p.E102D NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 102 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTAGTGGAGAACATTATCG 0.557000 9 42 7.48243e-07 8.3935e-07 0.058154 1 0 B3GALT6 126792 broad.mit.edu 37 1 1168029 1168029 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:1168029C>G ENST00000379198.2 + 1 401 c.371C>G c.(370-372)gCg>gGg p.A124G NM_080605.3 NP_542172.2 Q96L58 B3GT6_HUMAN UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 124 glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity lung(3) 3 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGCTGCCCGCGCTGCGCGAC 0.736000 6 11 0 0 0.021553 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20871675 20871675 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:20871675C>A ENST00000324344.3 - 3 733 c.448G>T c.(448-450)Ggc>Tgc p.G150C ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.G150C NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 150 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) GCTTTGCAGCCATCAAAAAAC 0.383000 3 37 0.115264 0.115799 0.115264 1 0 CSPG4 1464 broad.mit.edu 37 15 75975044 75975044 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr15:75975044C>T ENST00000308508.5 - 7 4779 c.4687G>A c.(4687-4689)Ggc>Agc p.G1563S NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1563 Gly/Ser-rich (glycosaminoglycan attachment domain). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GTGTGCTCGCCGTCAGAGAGG 0.667000 37 49 0 0 0.098360 0 0 PROKR1 10887 broad.mit.edu 37 2 68873389 68873389 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:68873389G>T ENST00000303786.3 + 2 856 c.436G>T c.(436-438)Gtc>Ttc p.V146F PROKR1_ENST00000394342.2_Missense_Mutation_p.V146F Q8TCW9 PKR1_HUMAN prokineticin receptor 1 146 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCTGCGCACTGTCTCTCTCTA 0.592000 54 99 5.19286e-32 7.78031e-32 0.139131 1 0 GPR98 84059 broad.mit.edu 37 5 89971181 89971181 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:89971181C>G ENST00000405460.2 + 24 5328 c.5232C>G c.(5230-5232)atC>atG p.I1744M GPR98_ENST00000450321.2_3'UTR NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1744 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TATTGGTCATCCGTGCACAGG 0.507000 15 51 0 0 0.038395 0 0 CLCN1 1180 broad.mit.edu 37 7 143048740 143048740 + Silent SNP C C A rs146366176 by1000genomes TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:143048740C>A ENST00000343257.2 + 23 2736 c.2649C>A c.(2647-2649)ccC>ccA p.P883P NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 883 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TCCGCCCTCCCCTTGCCAGCT 0.562000 24 56 2.36697e-06 2.58161e-06 0.125774 1 0 SEC24B 10427 broad.mit.edu 37 4 110394218 110394218 + Silent SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:110394218A>T ENST00000265175.5 + 3 991 c.936A>T c.(934-936)ccA>ccT p.P312P SEC24B_ENST00000399100.2_Silent_p.P312P|SEC24B_ENST00000504968.2_Silent_p.P343P NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 312 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) AGTCCAGCCCAGTGGTATCCA 0.443000 43 88 0 0 0.139131 0 0 BSN 8927 broad.mit.edu 37 3 49691789 49691789 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:49691789G>T ENST00000296452.4 + 5 4914 c.4800G>T c.(4798-4800)ccG>ccT p.P1600P NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1600 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CAACACCTCCGAGTGTGTCTC 0.642000 13 45 4.75885e-15 5.92121e-15 0.033300 1 0 EHD3 30845 broad.mit.edu 37 2 31483565 31483565 + Missense_Mutation SNP G G T rs113087929 TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:31483565G>T ENST00000322054.5 + 4 977 c.692G>T c.(691-693)cGg>cTg p.R231L EHD3_ENST00000541626.1_Intron NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 231 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CAGCTGATGCGGGTGTACGGG 0.572000 14 55 1.3612e-06 1.51517e-06 0.132662 1 0 ZCCHC13 389874 broad.mit.edu 37 X 73524477 73524477 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chrX:73524477G>T ENST00000339534.2 + 1 453 c.376G>T c.(376-378)Gcc>Tcc p.A126S NM_203303.2 NP_976048.1 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 126 nucleic acid binding|zinc ion binding p.A126T(1) breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 GAAAGACTGCGCCCAGGTCAA 0.562000 42 11 3.76525e-18 4.92554e-18 0.139131 1 0 OR5H2 79310 broad.mit.edu 37 3 98001807 98001807 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:98001807C>A ENST00000355273.2 + 1 76 c.76C>A c.(76-78)Cca>Aca p.P26T RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TACATATCAGCCAGAGTGGAA 0.423000 73 274 1.75807e-36 2.68991e-36 0.139131 1 0 ADD1 118 broad.mit.edu 37 4 2916624 2916624 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:2916624C>T ENST00000355842.3 + 15 2575 c.1712C>T c.(1711-1713)aCg>aTg p.T571M ADD1_ENST00000398123.2_Missense_Mutation_p.T571M|ADD1_ENST00000264758.7_Missense_Mutation_p.T571M|ADD1_ENST00000398125.1_Missense_Mutation_p.T571M|ADD1_ENST00000398129.1_Missense_Mutation_p.T540M|ADD1_ENST00000513328.2_Missense_Mutation_p.T540M|ADD1_ENST00000446856.1_Missense_Mutation_p.T540M|ADD1_ENST00000503455.2_Missense_Mutation_p.T571M P35611 ADDA_HUMAN adducin 1 (alpha) 540 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GAGCTGGTGACGGCCTCCAAG 0.642000 33 76 0 0 0.074837 0 0 C2orf53 339779 broad.mit.edu 37 2 27360872 27360872 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:27360872C>A ENST00000335524.3 - 3 851 c.326G>T c.(325-327)cGt>cTt p.R109L NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 109 Pro-rich. cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) agaggatgcacgtggacgggg 0.557000 13 22 7.93312e-07 8.87608e-07 0.119110 1 0 SASH1 23328 broad.mit.edu 37 6 148840912 148840912 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:148840912G>T ENST00000367467.3 + 10 1567 c.1092G>T c.(1090-1092)aaG>aaT p.K364N NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 364 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GCCTGATTAAGCCCCCCAAGA 0.587000 14 9 3.52763e-06 3.82823e-06 0.033300 1 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 3 34 0 0 0.009096 0 0 SAMSN1 64092 broad.mit.edu 37 21 15893514 15893514 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr21:15893514C>T ENST00000285670.2 - 3 464 c.290G>A c.(289-291)cGt>cAt p.R97H SAMSN1_ENST00000400566.1_Missense_Mutation_p.R29H|SAMSN1_ENST00000400564.1_Intron NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 29 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) ATTCCGAAAACGATCGAAATT 0.289000 10 30 0 0 0.132662 0 0 CETP 1071 broad.mit.edu 37 16 56995954 56995954 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:56995954C>A ENST00000200676.3 + 1 193 c.63C>A c.(61-63)ggC>ggA p.G21G CETP_ENST00000379780.2_Silent_p.G21G|CETP_ENST00000569082.1_3'UTR NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 21 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 GCTCCAAAGGCACCTCGCACG 0.607000 33 48 1.04352e-10 1.23118e-10 0.064281 1 0 PLEKHH2 130271 broad.mit.edu 37 2 43926984 43926984 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:43926984G>C ENST00000282406.4 + 8 997 c.887G>C c.(886-888)gGa>gCa p.G296A NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 296 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GGGAGCAAAGGAAGATCCAAG 0.517000 4 19 0 0 0.009096 0 0 NLRC5 84166 broad.mit.edu 37 16 57081479 57081479 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:57081479C>T ENST00000436936.1 + 23 3586 c.3361C>T c.(3361-3363)Ccc>Tcc p.P1121S NLRC5_ENST00000308149.7_Missense_Mutation_p.P1121S|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1121S|NLRC5_ENST00000262510.6_Missense_Mutation_p.P1121S Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1121 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TCCTCTGGAGCCCCCAAGCCT 0.632000 7 14 0 0 0.038147 0 0 HRNR 388697 broad.mit.edu 37 1 152191375 152191375 + Silent SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:152191375C>T ENST00000368801.2 - 3 2805 c.2730G>A c.(2728-2730)ggG>ggA p.G910G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 910 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGGAGCCAGACCCATGTCGGC 0.647000 85 217 0 0 0.139131 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543540 182543540 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:182543540G>T ENST00000295108.3 - 2 505 c.48C>A c.(46-48)ccC>ccA p.P16P NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 16 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GAGGACCTTGGGGCTGAGGCT 0.532000 25 71 2.47872e-24 3.46222e-24 0.117977 1 0 DRD5 1816 broad.mit.edu 37 4 9785004 9785004 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:9785004G>A ENST00000304374.2 + 1 1747 c.1351G>A c.(1351-1353)Gct>Act p.A451T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 451 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) TGACCCTGTTGCTGAGTCTGT 0.527000 29 44 0 0 0.054565 0 0 SEMA6B 10501 broad.mit.edu 37 19 4550272 4550272 + Nonsense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:4550272G>T ENST00000586582.1 - 12 1444 c.1134C>A c.(1132-1134)tgC>tgA p.C378* SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.C378*|SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.C378* NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 378 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGGGCTGCGCAGCACCCGG 0.602000 16 59 4.35082e-09 4.99709e-09 0.055883 1 0 PLCB4 5332 broad.mit.edu 37 20 9440444 9440444 + Silent SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:9440444C>T ENST00000378501.2 + 31 3214 c.3199C>T c.(3199-3201)Ctg>Ttg p.L1067L PLCB4_ENST00000334005.3_Silent_p.L1067L|PLCB4_ENST00000378473.3_Silent_p.L1079L|PLCB4_ENST00000278655.4_Silent_p.L1067L|PLCB4_ENST00000414679.2_Silent_p.L1079L|PLCB4_ENST00000378493.1_Silent_p.L1067L|PLCB4_ENST00000492632.1_Intron NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1067 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GCAGCTGAAACTGTCCCATGA 0.463000 11 11 0 0 0.105934 0 0 ZIC1 7545 broad.mit.edu 37 3 147128847 147128847 + Silent SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:147128847C>G ENST00000282928.4 + 1 1677 c.948C>G c.(946-948)tcC>tcG p.S316S NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 316 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 TCGCGCGCTCCGAGAATTTAA 0.557000 18 45 0 0 0.069288 0 0 ADAM29 11086 broad.mit.edu 37 4 175898629 175898629 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:175898629C>A ENST00000359240.3 + 5 2623 c.1953C>A c.(1951-1953)ccC>ccA p.P651P ADAM29_ENST00000514159.1_Silent_p.P651P|ADAM29_ENST00000445694.1_Silent_p.P651P|ADAM29_ENST00000404450.4_Silent_p.P651P NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 651 EGF-like. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GGGACCCTCCCAACTGCCTGA 0.418000 21 31 1.85244e-09 2.14467e-09 0.083992 1 0 MYT1L 23040 broad.mit.edu 37 2 1921033 1921033 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:1921033T>A ENST00000399161.2 - 11 2309 c.1562A>T c.(1561-1563)tAc>tTc p.Y521F MYT1L_ENST00000428368.2_Missense_Mutation_p.Y519F NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 521 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GTGATGTGGGTACAGCCCAGT 0.562000 82 146 0 0 0.139131 0 0 NT5DC2 64943 broad.mit.edu 37 3 52562512 52562512 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:52562512C>A ENST00000307076.4 - 5 881 c.481G>T c.(481-483)Ggg>Tgg p.G161W NT5DC2_ENST00000307092.4_Missense_Mutation_p.G102W|NT5DC2_ENST00000459839.1_Missense_Mutation_p.G173W|NT5DC2_ENST00000422318.2_Missense_Mutation_p.G198W NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 161 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) TGGGTACCCCCATACAGCTCA 0.577000 73 88 5.86298e-51 9.50812e-51 0.139131 1 0 SPATA8 145946 broad.mit.edu 37 15 97327478 97327478 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr15:97327478C>A ENST00000328504.3 + 2 452 c.185C>A c.(184-186)cCt>cAt p.P62H SPATA8_ENST00000558553.1_Silent_p.A21A NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 62 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) CCGGTGTGGCCTGCAAAGGAA 0.567000 24 34 2.44723e-14 3.01037e-14 0.099896 1 0 RTDR1 27156 broad.mit.edu 37 22 23404049 23404049 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr22:23404049G>A ENST00000216036.4 - 6 924 c.728C>T c.(727-729)cCa>cTa p.P243L NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 243 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) ATGCTCCACTGGGTCTTTCAG 0.582000 29 31 0 0 0.086207 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603145 140603145 + Nonsense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:140603145T>A ENST00000239449.4 + 1 68 c.68T>A c.(67-69)tTg>tAg p.L23* PCDHB14_ENST00000515856.2_Intron NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 23 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGCTGGGATTGTCTCGGGCA 0.483000 33 28 0 0 0.054565 0 0 INA 9118 broad.mit.edu 37 10 105048127 105048127 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:105048127G>C ENST00000369849.4 + 3 1250 c.1201G>C c.(1201-1203)Gaa>Caa p.E401Q NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 401 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GAAACTGCTGGAAGGCGAGGA 0.468000 28 67 0 0 0.050027 0 0 CUBN 8029 broad.mit.edu 37 10 16930420 16930420 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:16930420T>A ENST00000377833.4 - 56 8966 c.8901A>T c.(8899-8901)ttA>ttT p.L2967F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2967 CUB 22. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACTTACCTTCTAAGTGGAAGG 0.318000 13 19 0 0 0.093190 0 0 ANK2 287 broad.mit.edu 37 4 114158219 114158219 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:114158219C>T ENST00000357077.4 + 6 613 c.560C>T c.(559-561)aCc>aTc p.T187I ANK2_ENST00000506722.1_Missense_Mutation_p.T166I|ANK2_ENST00000394537.3_Missense_Mutation_p.T187I|ANK2_ENST00000264366.6_Missense_Mutation_p.T187I NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 187 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGAATGACACCAAAGGGAAA 0.502000 88 124 0 0 0.139131 0 0 MKI67 4288 broad.mit.edu 37 10 129907666 129907666 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:129907666G>T ENST00000368654.3 - 13 2813 c.2438C>A c.(2437-2439)gCa>gAa p.A813E MKI67_ENST00000368653.3_Missense_Mutation_p.A453E NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 813 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGCATTCTGTGCACTGAAGAA 0.393000 16 51 8.81451e-21 1.189e-20 0.049695 1 0 MLLT3 4300 broad.mit.edu 37 9 20448130 20448130 + Translation_Start_Site SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr9:20448130C>A ENST00000355930.6 - 0 669 MLLT3_ENST00000380338.4_Missense_Mutation_p.K137N|MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000429426.2_Missense_Mutation_p.K134N P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.K137N(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) CCCCTCCTGCCTTCAGCAACT 0.403000 T MLL ALL 58 63 1.52378e-38 2.37337e-38 0.139131 1 0 ATXN2L 11273 broad.mit.edu 37 16 28841268 28841268 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:28841268A>T ENST00000336783.4 + 8 1090 c.923A>T c.(922-924)cAg>cTg p.Q308L ATXN2L_ENST00000340394.8_Missense_Mutation_p.Q308L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.Q308L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.Q308L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.Q308L|ATXN2L_ENST00000570200.1_Missense_Mutation_p.Q308L|ATXN2L_ENST00000395547.2_Missense_Mutation_p.Q308L NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 308 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TCAAGCCCCCAGTACCGCCTA 0.607000 25 41 0 0 0.116897 0 0 RND3 390 broad.mit.edu 37 2 151328205 151328205 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:151328205C>A ENST00000375734.2 - 4 668 c.419G>T c.(418-420)cGg>cTg p.R140L RND3_ENST00000409557.1_Missense_Mutation_p.R11L|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000263895.4_Missense_Mutation_p.R140L NM_001254738.1 NP_001241667.1 P61587 RND3_HUMAN Rho family GTPase 3 140 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity p.R140Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.106) AACATCTGTCCGCAGATCAGA 0.403000 22 89 7.41945e-09 8.47658e-09 0.108266 1 0 KCNC1 3746 broad.mit.edu 37 11 17793580 17793580 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:17793580C>A ENST00000379472.3 + 2 969 c.939C>A c.(937-939)gtC>gtA p.V313V KCNC1_ENST00000265969.6_Silent_p.V313V NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 313 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGCGCGTCGTCCGCTTCGTGC 0.637000 14 19 4.36969e-10 5.11372e-10 0.105934 1 0 PLCG1 5335 broad.mit.edu 37 20 39791337 39791337 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:39791337G>A ENST00000373272.2 + 6 1058 c.653G>A c.(652-654)cGc>cAc p.R218H PLCG1_ENST00000244007.3_Missense_Mutation_p.R218H|PLCG1_ENST00000373271.1_Missense_Mutation_p.R218H NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 218 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) CAGCTGTACCGCAGCCTCATG 0.647000 4 73 0 0 0.021553 0 0 AMER3 205147 broad.mit.edu 37 2 131521388 131521388 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:131521388G>C ENST00000423981.1 + 2 1853 c.1743G>C c.(1741-1743)gaG>gaC p.E581D AMER3_ENST00000321420.4_Missense_Mutation_p.E581D NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 TCGCCGGAGAGAGCAAGGCCC 0.652000 12 59 0 0 0.105934 0 0 GPR125 166647 broad.mit.edu 37 4 22390058 22390058 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:22390058G>C ENST00000334304.5 - 19 3505 c.3236C>G c.(3235-3237)tCt>tGt p.S1079C GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1079 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CGTCCCATTAGAGTTGGGGGG 0.507000 13 42 0 0 0.132662 0 0 GFM2 84340 broad.mit.edu 37 5 74026156 74026156 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:74026156C>G ENST00000296805.3 - 17 2112 c.1655G>C c.(1654-1656)gGa>gCa p.G552A GFM2_ENST00000509430.1_Missense_Mutation_p.G552A|GFM2_ENST00000515125.1_Intron|GFM2_ENST00000345239.2_Missense_Mutation_p.G505A NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 552 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) GGTCTCCAGTCCATATTCCCT 0.418000 33 79 0 0 0.064281 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894314 78894314 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr15:78894314A>T ENST00000326828.5 - 5 1054 c.670T>A c.(670-672)Tgc>Agc p.C224S CHRNA3_ENST00000348639.3_Missense_Mutation_p.C224S NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 224 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.C224G(1) central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ATCTCCTCGCAGCAGTTGTAC 0.547000 13 39 0 0 0.093190 0 0 NID1 4811 broad.mit.edu 37 1 236205296 236205296 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:236205296G>T ENST00000264187.6 - 4 1131 c.1049C>A c.(1048-1050)aCc>aAc p.T350N NID1_ENST00000366595.3_Missense_Mutation_p.T350N NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 350 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GAAAGACCTGGTTCTCTCTGT 0.557000 32 62 8.73648e-17 1.10935e-16 0.069456 1 0 SLC22A7 10864 broad.mit.edu 37 6 43270469 43270469 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:43270469G>A ENST00000372585.5 + 9 1448 c.1353G>A c.(1351-1353)ctG>ctA p.L451L SLC22A7_ENST00000372589.3_Silent_p.L449L|SLC22A7_ENST00000372574.3_Silent_p.L449L NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 451 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CTGCCTACCTGTTCACTTCAG 0.522000 10 18 0 0 0.105934 0 0 GPR137C 283554 broad.mit.edu 37 14 53100621 53100621 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:53100621A>G ENST00000321662.6 + 6 1069 c.1069A>G c.(1069-1071)Agt>Ggt p.S357G NM_001099652.1 NP_001093122.1 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 357 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) ACGATATGATAGTGATGATGA 0.378000 52 63 0 0 0.139131 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31984820 31984820 + Silent SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:31984820T>A ENST00000357886.4 - 2 204 c.51A>T c.(49-51)ggA>ggT p.G17G CDK5RAP1_ENST00000473997.1_Intron|CDK5RAP1_ENST00000544843.1_Silent_p.G17G|CDK5RAP1_ENST00000346416.2_Silent_p.G17G|CDK5RAP1_ENST00000339269.5_Silent_p.G17G|CDK5RAP1_ENST00000452723.3_Intron Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 17 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 AGGCCAATGGTCCCCACCCCA 0.552000 68 119 0 0 0.139131 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507403 74507403 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:74507403C>A ENST00000354431.4 - 7 1403 c.1212G>T c.(1210-1212)atG>atT p.M404I LRRIQ3_ENST00000395089.1_Missense_Mutation_p.M404I NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 404 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AAAACTCTTTCATACTCCGCT 0.353000 31 47 6.70999e-13 8.13844e-13 0.069456 1 0 SHOX 6473 broad.mit.edu 37 X 591847 591847 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chrX:591847A>T ENST00000381578.1 + 2 906 c.215A>T c.(214-216)aAg>aTg p.K72M SHOX_ENST00000334060.3_Missense_Mutation_p.K72M|SHOX_ENST00000554971.1_Missense_Mutation_p.K72M|SHOX_ENST00000381575.1_Missense_Mutation_p.K72M NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 72 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CATTTGTTCAAGGACCACGTA 0.627000 52 34 0 0 0.139131 0 0 PCDH7 5099 broad.mit.edu 37 4 30724796 30724796 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:30724796C>A ENST00000361762.2 + 1 2760 c.1752C>A c.(1750-1752)atC>atA p.I584I PCDH7_ENST00000543491.1_Silent_p.I584I NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 584 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 TCTTTGCCATCGATCCCGATT 0.577000 14 23 3.41278e-10 4.0047e-10 0.033300 1 0 RAG2 5897 broad.mit.edu 37 11 36614998 36614998 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:36614998G>T ENST00000311485.3 - 2 882 c.721C>A c.(721-723)Ccc>Acc p.P241T NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 241 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) CTACCCAGGGGAAGATCAACC 0.433000 Familial Hemophagocytic Lymphohistiocytosis 16 60 6.94344e-10 8.08202e-10 0.038395 1 0 PCDHB12 56124 broad.mit.edu 37 5 140590189 140590189 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:140590189G>A ENST00000239450.2 + 1 1899 c.1710G>A c.(1708-1710)gcG>gcA p.A570A PCDHB12_ENST00000541609.1_Silent_p.A233A NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 570 Cadherin 6. 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) ACGGCTCCGCGCCCTGCACCG 0.706000 36 149 0 0 0.111260 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240853 39240853 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:39240853C>A ENST00000391417.4 + 1 395 c.395C>A c.(394-396)aCc>aAc p.T132N NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 TCCTGCCACACCACTTGCTAT 0.672000 7 32 3.09899e-07 3.50355e-07 0.047766 1 0 LCE1B 353132 broad.mit.edu 37 1 152785059 152785059 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:152785059T>A ENST00000360090.3 + 1 613 c.137T>A c.(136-138)gTc>gAc p.V46D NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 46 keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCTGCAGTGTCAGCTCCGGA 0.642000 85 229 0 0 0.139131 0 0 GPT2 84706 broad.mit.edu 37 16 46960903 46960903 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:46960903G>A ENST00000440783.2 + 11 1800 c.1135G>A c.(1135-1137)Gtg>Atg p.V379M GPT2_ENST00000340124.4_Missense_Mutation_p.V479M NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 479 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CATCTGTGTCGTGCCCGGCAG 0.557000 5 106 0 0 0.029380 0 0 CYP11B1 1584 broad.mit.edu 37 8 143957737 143957737 + Nonsense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:143957737C>A ENST00000292427.4 - 5 906 c.874G>T c.(874-876)Gag>Tag p.E292* CYP11B1_ENST00000517471.1_Nonsense_Mutation_p.E292*|CYP11B1_ENST00000377675.3_Nonsense_Mutation_p.E363* NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 292 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AACAGGAGCTCCGCCACGATG 0.597000 Familial Hyperaldosteronism type I 17 29 2.23348e-06 2.44217e-06 0.146539 1 0 ANKAR 150709 broad.mit.edu 37 2 190554642 190554642 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:190554642A>G ENST00000520309.1 + 3 1079 c.991A>G c.(991-993)Aag>Gag p.K331E ANKAR_ENST00000438402.2_Missense_Mutation_p.K331E|ANKAR_ENST00000281412.6_Missense_Mutation_p.K95E|ANKAR_ENST00000313581.4_Missense_Mutation_p.K331E|ANKAR_ENST00000431575.2_Missense_Mutation_p.K260E|ANKAR_ENST00000461516.1_3'UTR NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 331 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GAGTTTAAAGAAGAAAATGAA 0.269000 13 78 0 0 0.146539 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573613 140573613 + Silent SNP G G T rs17844571 byFrequency TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:140573613G>T ENST00000239446.4 + 1 1672 c.1488G>T c.(1486-1488)ccG>ccT p.P496P NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 496 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCAAGACCCGCACCTGCCCC 0.672000 51 445 6.20943e-19 8.22228e-19 0.139131 1 0 CD226 10666 broad.mit.edu 37 18 67614144 67614144 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr18:67614144C>A ENST00000280200.4 - 3 476 c.208G>T c.(208-210)Gtc>Ttc p.V70F CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.V70F NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 70 Ig-like C2-type 1. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TTCCTTATGACCATGCCATGA 0.448000 9 27 3.09899e-07 3.50355e-07 0.047766 1 0 ANGPTL7 10218 broad.mit.edu 37 1 11253738 11253738 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:11253738G>A ENST00000376819.3 + 3 818 c.579G>A c.(577-579)caG>caA p.Q193Q ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 193 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) AGTACAAGCAGGGCTTTGGCA 0.572000 28 42 0 0 0.116897 0 0 OR2M7 391196 broad.mit.edu 37 1 248487363 248487363 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:248487363C>A ENST00000317965.2 - 1 536 c.508G>T c.(508-510)Ggg>Tgg p.G170W NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCCGAGACCCACAGTAGGAG 0.453000 27 251 2.48696e-23 3.45145e-23 0.059317 1 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 5 96 0 0 0.038147 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499833 104499833 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr9:104499833G>A ENST00000361820.3 - 1 1029 c.429C>T c.(427-429)ccC>ccT p.P143P NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 143 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ACAGGTTGTAGGGTAGCAGCC 0.642000 24 26 0 0 0.116897 0 0 KBTBD2 25948 broad.mit.edu 37 7 32910140 32910140 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:32910140T>A ENST00000304056.4 - 4 1388 c.689A>T c.(688-690)cAg>cTg p.Q230L AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 230 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) CCAAGCTCTCTGTGTTACTTC 0.433000 24 72 0 0 0.116897 0 0 CACNA1A 773 broad.mit.edu 37 19 13428054 13428054 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:13428054C>T ENST00000360228.5 - 11 1426 c.1427G>A c.(1426-1428)cGt>cAt p.R476H CACNA1A_ENST00000573710.2_Missense_Mutation_p.R477H 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 477 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) GATGTAGAAACGCATCCTCCT 0.493000 6 21 0 0 0.038147 0 0 COL4A5 1287 broad.mit.edu 37 X 107938036 107938036 + Splice_Site SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chrX:107938036G>C ENST00000328300.6 + 51 4950 c.e51-1 COL4A5_ENST00000361603.2_Splice_Site NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCCTTTACCAGATGTGCAGTA 0.468000 Alport syndrome with Diffuse Leiomyomatosis 44 22 0 0 0.139131 0 0 LRRC17 10234 broad.mit.edu 37 7 102574728 102574728 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:102574728A>T ENST00000249377.4 + 2 649 c.368A>T c.(367-369)gAg>gTg p.E123V FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.E123V NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 123 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 ATTGAGAGTGAGGCGTTCTTT 0.418000 3 16 0 0 0.009096 0 0 SPATA31D3 389762 broad.mit.edu 37 9 84564820 84564820 + RNA SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr9:84564820G>C ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA CACTTGCAGTGTGAAGTCAAC 0.493000 5 3 0 0 0.021553 0 0 PACS1 55690 broad.mit.edu 37 11 66002783 66002783 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:66002783G>A ENST00000320580.4 + 18 2149 c.2116G>A c.(2116-2118)Gtg>Atg p.V706M PACS1_ENST00000529757.1_Missense_Mutation_p.V242M NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 706 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 GCAACTGGACGTGGCAGGGCG 0.572000 3 85 0 0 0.014758 0 0 KCNS2 3788 broad.mit.edu 37 8 99441303 99441303 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:99441303T>C ENST00000287042.4 + 2 1446 c.1096T>C c.(1096-1098)Tgg>Cgg p.W366R KCNS2_ENST00000521839.1_Missense_Mutation_p.W366R NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 366 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TGCCTGCTGGTGGTGGGCTAC 0.602000 17 54 0 0 0.062417 0 0 RANBP2 5903 broad.mit.edu 37 2 109381727 109381727 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:109381727G>A ENST00000283195.6 + 20 4858 c.4732G>A c.(4732-4734)Gtt>Att p.V1578I NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1578 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATCTACTTCTGTTCCAGCTCC 0.458000 43 157 0 0 0.139131 0 0 SPOPL 339745 broad.mit.edu 37 2 139318416 139318416 + Silent SNP A A G rs151051467 by1000genomes TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:139318416A>G ENST00000280098.4 + 8 1135 c.756A>G c.(754-756)aaA>aaG p.K252K NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 252 BTB. nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) AAGTTTTTAAAGAAATGATGA 0.333000 16 74 0 0 0.049695 0 0 XKR4 114786 broad.mit.edu 37 8 56436339 56436339 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:56436339C>A ENST00000327381.5 + 3 1606 c.1506C>A c.(1504-1506)ggC>ggA p.G502G NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 502 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TTTTAACTGGCGTTGTTTTTA 0.517000 15 65 6.94344e-10 8.08202e-10 0.038395 1 0 CALCOCO1 57658 broad.mit.edu 37 12 54115252 54115252 + Splice_Site SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:54115252T>A ENST00000548263.1 - 6 805 c.758_splice c.e6+1 p.R253_splice CALCOCO1_ENST00000430117.2_Splice_Site_p.R220_splice|CALCOCO1_ENST00000262059.4_Splice_Site_p.R253_splice|CALCOCO1_ENST00000550804.1_Splice_Site_p.R253_splice Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 253 steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 TCCCCTCACCTGTCCAGCTCC 0.602000 139 99 0 0 0.139131 0 0 NRXN3 9369 broad.mit.edu 37 14 79181203 79181203 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:79181203C>A ENST00000554719.1 + 5 1137 c.646C>A c.(646-648)Cgt>Agt p.R216S NRXN3_ENST00000335750.5_Missense_Mutation_p.R216S NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 222 Laminin G-like. angiogenesis|cell adhesion integral to membrane p.R216S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCCGGAGAACCGTGCTGGCCT 0.587000 39 62 1.30475e-32 1.96165e-32 0.111260 1 0 ANO3 63982 broad.mit.edu 37 11 26463611 26463611 + Nonsense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:26463611C>T ENST00000256737.3 + 2 1045 c.193C>T c.(193-195)Cag>Tag p.Q65* ANO3_ENST00000525139.1_Nonsense_Mutation_p.Q49*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.Q49*|ANO3_ENST00000531646.1_Nonsense_Mutation_p.Q65* NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 65 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GAGTGAATCTCAGGCTCCCAC 0.468000 47 167 0 0 0.139131 0 0 UBE2V2 7336 broad.mit.edu 37 8 48962437 48962437 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:48962437A>T ENST00000523111.2 + 3 245 c.190A>T c.(190-192)Agc>Tgc p.S64C UBE2V2_ENST00000521346.1_Missense_Mutation_p.S24C|UBE2V2_ENST00000520809.1_Missense_Mutation_p.S24C|UBE2V2_ENST00000517630.1_Missense_Mutation_p.S24C NM_003350.2 NP_003341.1 Q15819 UB2V2_HUMAN ubiquitin-conjugating enzyme E2 variant 2 64 cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair cytoplasm|nucleus|UBC13-MMS2 complex acid-amino acid ligase activity|protein binding large_intestine(1)|lung(2) 3 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196) CAGAATATATAGCCTGAAAGT 0.289000 Rad6 pathway 12 61 0 0 0.033300 0 0 RYR3 6263 broad.mit.edu 37 15 34151796 34151796 + Nonsense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr15:34151796C>A ENST00000389232.4 + 100 14233 c.14163C>A c.(14161-14163)taC>taA p.Y4721* RYR3_ENST00000415757.3_Nonsense_Mutation_p.Y4716*|RP11-3D4.2_ENST00000560268.1_RNA NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4721 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCACATGTACGTGGGAGTGA 0.398000 24 21 2.80507e-11 3.3368e-11 0.050027 1 0 FAM131B 9715 broad.mit.edu 37 7 143056019 143056019 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:143056019G>T ENST00000409408.1 - 4 1991 c.283C>A c.(283-285)Cca>Aca p.P95T FAM131B_ENST00000409346.1_Missense_Mutation_p.P95T|FAM131B_ENST00000409578.1_Missense_Mutation_p.P111T|FAM131B_ENST00000443739.2_Missense_Mutation_p.P123T|FAM131B_ENST00000409222.3_Missense_Mutation_p.P95T Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 95 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) TGAACAGCTGGTGTCTTCCCC 0.602000 12 38 3.45872e-05 3.67065e-05 0.146539 1 0 CSMD3 114788 broad.mit.edu 37 8 113318300 113318300 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:113318300G>A ENST00000297405.5 - 51 8251 c.8007C>T c.(8005-8007)ctC>ctT p.L2669L CSMD3_ENST00000343508.3_Silent_p.L2629L|CSMD3_ENST00000455883.2_Silent_p.L2565L|CSMD3_ENST00000352409.3_Silent_p.L2599L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2669 Sushi 15. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CAGCTGTAGTGAGTTCTTTGG 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 240 0 0 0.047766 0 0 CDK5 1020 broad.mit.edu 37 7 150751345 150751345 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:150751345A>T ENST00000485972.1 - 11 1427 c.746T>A c.(745-747)gTg>gAg p.V249E CDK5_ENST00000297518.4_Missense_Mutation_p.V217E NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 249 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) CACGACGTTCACCAGGGATGT 0.607000 8 44 0 0 0.093190 0 0 AGT 183 broad.mit.edu 37 1 230839063 230839063 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:230839063T>C ENST00000366667.4 - 5 1496 c.1282A>G c.(1282-1284)Att>Gtt p.I428V NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 428 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) TCAAAAAAAATGCTGTTCAGC 0.567000 36 62 0 0 0.104719 0 0 TDRD6 221400 broad.mit.edu 37 6 46659287 46659287 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:46659287T>C ENST00000544460.1 + 1 3676 c.3422T>C c.(3421-3423)cTa>cCa p.L1141P TDRD6_ENST00000316081.6_Missense_Mutation_p.L1141P NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1141 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) ATTATAGAACTATATGGTGAC 0.343000 41 73 0 0 0.139131 0 0 TCEA1 6917 broad.mit.edu 37 8 54934677 54934677 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:54934677G>T ENST00000521604.2 - 1 412 c.9C>A c.(7-9)gaC>gaA p.D3E TCEA1_ENST00000396401.3_Missense_Mutation_p.D3E|TCEA1_ENST00000520534.1_Missense_Mutation_p.D3E|TCEA1_ENST00000522635.1_Missense_Mutation_p.D3E|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000518784.1_Missense_Mutation_p.D3E NM_006756.2 NP_006747.1 P23193 TCEA1_HUMAN transcription elongation factor A (SII), 1 3 TFIIS N-terminal. positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|translation elongation factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699) GGACCACTTCGTCCTCCATGG 0.701000 T PLAG1 salivary adenoma 57 83 9.59377e-39 1.49968e-38 0.139131 1 0 KLK8 11202 broad.mit.edu 37 19 51501061 51501061 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:51501061C>A ENST00000600767.1 - 6 1062 c.573G>T c.(571-573)caG>caT p.Q191H CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.Q236H|KLK8_ENST00000347619.4_Missense_Mutation_p.Q50H|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000291726.7_Missense_Mutation_p.Q191H O60259 KLK8_HUMAN kallikrein-related peptidase 8 191 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) CATCTGTGATCTGCCCCGGGT 0.507000 31 119 8.16721e-17 1.04012e-16 0.045705 1 0 TACC2 10579 broad.mit.edu 37 10 123997013 123997013 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:123997013A>T ENST00000369005.1 + 17 8571 c.8231A>T c.(8230-8232)cAg>cTg p.Q2744L TACC2_ENST00000453444.2_Missense_Mutation_p.Q2671L|TACC2_ENST00000369001.1_Missense_Mutation_p.Q371L|TACC2_ENST00000368999.1_Missense_Mutation_p.Q834L|TACC2_ENST00000369000.1_Missense_Mutation_p.Q367L|TACC2_ENST00000334433.3_Missense_Mutation_p.Q2744L|TACC2_ENST00000515273.1_Missense_Mutation_p.Q2671L|TACC2_ENST00000358010.1_Missense_Mutation_p.Q890L|TACC2_ENST00000260733.3_Missense_Mutation_p.Q822L|TACC2_ENST00000369004.3_Missense_Mutation_p.Q804L|TACC2_ENST00000515603.1_Missense_Mutation_p.Q2622L|TACC2_ENST00000360561.3_Missense_Mutation_p.Q792L|TACC2_ENST00000513429.1_Missense_Mutation_p.Q890L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2744 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTGTTCCAGCAGCCCGACCTG 0.562000 10 37 0 0 0.093190 0 0 SNCB 6620 broad.mit.edu 37 5 176053742 176053742 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:176053742C>A ENST00000310112.3 - 4 392 c.142G>T c.(142-144)Gtg>Ttg p.V48L SNCB_ENST00000393693.2_Missense_Mutation_p.V48L|SNCB_ENST00000506696.1_Missense_Mutation_p.V48L|SNCB_ENST00000510387.1_Missense_Mutation_p.V48L NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta 48 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTTGTACCACACCTTCTCGG 0.587000 77 75 7.30829e-53 1.19867e-52 0.139131 1 0 TRBV6-5 28602 broad.mit.edu 37 7 142180550 142180550 + RNA SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:142180550G>T ENST00000390368.2 - 0 374 CAGATGTCTGGGAGGGAGCAG 0.567000 194 254 1.65135e-81 2.75013e-81 0.139131 1 0 PCDHA11 56138 broad.mit.edu 37 5 140250616 140250616 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:140250616G>A ENST00000398640.2 + 1 1928 c.1928G>A c.(1927-1929)cGc>cAc p.R643H PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTCGCCGCGCCACCGACTT 0.687000 22 93 0 0 0.108266 0 0 OVCH1 341350 broad.mit.edu 37 12 29649122 29649122 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:29649122G>C ENST00000318184.5 - 3 272 c.273C>G c.(271-273)agC>agG p.S91R NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 91 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) ACTCACTGAGGCTGTCCAGGC 0.468000 13 5 0 0 0.033300 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612013 120612013 + Missense_Mutation SNP G G A rs150390977 by1000genomes TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:120612013G>A ENST00000256646.2 - 1 227 c.8C>T c.(7-9)gCc>gTc p.A3V NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 3 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.A3V(3) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGGCGCAGGGCGGGCATCTT 0.746000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 3 15 0 0 0.009096 0 0 CTDP1 9150 broad.mit.edu 37 18 77455229 77455229 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr18:77455229G>T ENST00000299543.7 + 2 466 c.319G>T c.(319-321)Gtt>Ttt p.V107F CTDP1_ENST00000075430.7_Missense_Mutation_p.V107F NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 107 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) TTGTAGAGCGGTTCTGGTGAG 0.443000 27 30 2.75727e-19 3.67354e-19 0.074837 1 0 DGKB 1607 broad.mit.edu 37 7 14722261 14722261 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:14722261G>T ENST00000403951.2 - 12 1371 c.952C>A c.(952-954)Cca>Aca p.P318T DGKB_ENST00000399322.3_Missense_Mutation_p.P318T|DGKB_ENST00000444700.2_Missense_Mutation_p.P311T|DGKB_ENST00000258767.5_Missense_Mutation_p.P318T|DGKB_ENST00000402815.1_Missense_Mutation_p.P318T|DGKB_ENST00000407950.1_Missense_Mutation_p.P311T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.P318T Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 318 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding p.P318T(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CACTTGGTTGGGCAGTTACCT 0.433000 55 111 1.34159e-35 2.03828e-35 0.139131 1 0 IPO9 55705 broad.mit.edu 37 1 201841972 201841972 + Nonsense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:201841972A>T ENST00000361565.4 + 20 2662 c.2593A>T c.(2593-2595)Aag>Tag p.K865* NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 865 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 GGCACTCTGTAAGCTGCTCCA 0.512000 39 115 0 0 0.139131 0 0 TENM2 57451 broad.mit.edu 37 5 167689264 167689264 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:167689264G>A ENST00000519204.1 + 28 7529 c.7411G>A c.(7411-7413)Gat>Aat p.D2471N TENM2_ENST00000520394.1_Missense_Mutation_p.D2353N|TENM2_ENST00000518659.1_Missense_Mutation_p.D2592N|TENM2_ENST00000403607.2_Missense_Mutation_p.D2416N|TENM2_ENST00000545108.1_Missense_Mutation_p.D2591N teneurin transmembrane protein 2 CGCCAGCGAAGATAGCCGCAA 0.552000 3 35 0 0 0.115264 0 0 SMG7 9887 broad.mit.edu 37 1 183502906 183502906 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:183502906A>G ENST00000367537.3 + 11 1384 c.1189A>G c.(1189-1191)Atg>Gtg p.M397V SMG7_ENST00000456731.2_Missense_Mutation_p.M326V|SMG7_ENST00000508461.1_Missense_Mutation_p.M326V|SMG7_ENST00000515829.2_Missense_Mutation_p.M368V|SMG7_ENST00000347615.2_Missense_Mutation_p.M368V|SMG7_ENST00000507469.1_Missense_Mutation_p.M368V Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 368 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 CAAGGTCTCCATGGACTGGCT 0.453000 3 157 0 0 0.009096 0 0 GPR112 139378 broad.mit.edu 37 X 135429708 135429708 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chrX:135429708G>T ENST00000394143.1 + 6 4134 c.3843G>T c.(3841-3843)aaG>aaT p.K1281N GPR112_ENST00000394141.1_Missense_Mutation_p.K1076N|GPR112_ENST00000287534.4_Missense_Mutation_p.K1218N|GPR112_ENST00000412101.1_Missense_Mutation_p.K1076N|GPR112_ENST00000370652.1_Missense_Mutation_p.K1281N NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1281 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCCCATCAAAGAATTCTTTTA 0.433000 22 8 2.39556e-15 2.98928e-15 0.076483 1 0 AGMO 392636 broad.mit.edu 37 7 15584468 15584468 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:15584468G>T ENST00000342526.3 - 3 507 c.338C>A c.(337-339)tCt>tAt p.S113Y NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 113 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 AGTCCATGGAGAATCCCAAGG 0.398000 37 143 6.48837e-15 8.02704e-15 0.117977 1 0 PRKCE 5581 broad.mit.edu 37 2 46386830 46386830 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:46386830A>G ENST00000306156.3 + 14 2333 c.2006A>G c.(2005-2007)aAa>aGa p.K669R NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 669 AGC-kinase C-terminal. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CCATTCTTCAAAGAGATTGAC 0.557000 66 87 0 0 0.139131 0 0 RBM44 375316 broad.mit.edu 37 2 238726828 238726828 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:238726828G>T ENST00000316997.4 + 3 1401 c.1269G>T c.(1267-1269)caG>caT p.Q423H RBM44_ENST00000409864.1_Missense_Mutation_p.Q423H|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 422 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GAGATAATCAGGCAATAGAAG 0.373000 3 30 0.115264 0.115799 0.115264 1 0 COL12A1 1303 broad.mit.edu 37 6 75843620 75843620 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:75843620T>A ENST00000322507.8 - 33 5927 c.5618A>T c.(5617-5619)cAg>cTg p.Q1873L COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1873L|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1873L|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q709L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1873 Fibronectin type-III 14. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GAGCTTGTACTGACGAGGATT 0.443000 23 24 0 0 0.083992 0 0 FFAR2 2867 broad.mit.edu 37 19 35941156 35941156 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:35941156G>T ENST00000599180.1 + 2 620 c.540G>T c.(538-540)cgG>cgT p.R180R FFAR2_ENST00000246549.2_Silent_p.R180R|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 180 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TGCCCGTGCGGCTGGAGCTGT 0.542000 55 71 2.2129e-31 3.29273e-31 0.139131 1 0 YIPF4 84272 broad.mit.edu 37 2 32523330 32523330 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:32523330A>G ENST00000238831.3 + 4 679 c.433A>G c.(433-435)Ata>Gta p.I145V NM_032312.3 NP_115688.1 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 145 endoplasmic reticulum|integral to membrane protein binding kidney(2)|lung(3)|prostate(3)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) AACCATTTGGATATTTGGTTC 0.323000 29 47 0 0 0.111260 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499268 59499268 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr15:59499268C>A ENST00000307144.4 + 1 227 c.129C>A c.(127-129)ctC>ctA p.L43L MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 43 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) GCACCTGGCTCTTCACCCCCG 0.572000 29 17 5.04308e-16 6.32943e-16 0.086207 1 0 SLC35A5 55032 broad.mit.edu 37 3 112300107 112300107 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:112300107G>A ENST00000492406.1 + 6 1426 c.1143G>A c.(1141-1143)ccG>ccA p.P381P SLC35A5_ENST00000460713.1_3'UTR NM_017945.2 NP_060415.1 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 381 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1) 11 CTCAAGTTCCGGAATACGCAC 0.468000 17 55 0 0 0.038395 0 0 TRIM11 81559 broad.mit.edu 37 1 228584717 228584717 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:228584717C>A ENST00000493030.2 - 4 4124 c.415G>T c.(415-417)Gtt>Ttt p.V139F TRIM11_ENST00000366699.3_Missense_Mutation_p.V264F|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.V264F Q96F44 TRI11_HUMAN tripartite motif containing 11 264 response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) ATAGGCACAACTTCTGGGGGC 0.637000 12 123 9.31168e-06 1.00297e-05 0.105934 1 0 TLR6 10333 broad.mit.edu 37 4 38830796 38830796 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:38830796T>A ENST00000436693.2 - 2 418 c.299A>T c.(298-300)cAg>cTg p.Q100L TLR6_ENST00000381950.1_Missense_Mutation_p.Q100L NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 100 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTCTAAATCCTGGTTGAACTT 0.358000 13 51 0 0 0.105934 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255505 85255505 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:85255505C>G ENST00000266682.5 - 12 2640 c.2099G>C c.(2098-2100)gGa>gCa p.G700A SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.G593A NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 700 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 AGTTGGGGATCCACTCTGTTT 0.438000 117 59 0 0 0.139131 0 0 DNAH7 56171 broad.mit.edu 37 2 196788457 196788457 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:196788457G>A ENST00000312428.6 - 23 3787 c.3687C>T c.(3685-3687)tcC>tcT p.S1229S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1229 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GATTCTGCATGGACAATTTGC 0.388000 56 85 0 0 0.139131 0 0 ZNF521 25925 broad.mit.edu 37 18 22807254 22807254 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr18:22807254C>A ENST00000361524.3 - 4 776 c.628G>T c.(628-630)Ggg>Tgg p.G210W ZNF521_ENST00000538137.2_Missense_Mutation_p.G210W|ZNF521_ENST00000584787.1_5'UTR NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 210 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GACAGAAACCCACGGCGACAA 0.483000 T PAX5 ALL 12 14 0.000151284 0.000159382 0.105934 1 0 CYP4V2 285440 broad.mit.edu 37 4 187130409 187130409 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:187130409G>T ENST00000378802.4 + 10 1692 c.1388G>T c.(1387-1389)gGc>gTc p.G463V CYP4V2_ENST00000502665.1_3'UTR NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 463 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) TTCTCTGCTGGCCCCAGGAAC 0.522000 51 94 8.81991e-31 1.30788e-30 0.139131 1 0 GPR123 84435 broad.mit.edu 37 10 134916248 134916248 + Silent SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:134916248A>T ENST00000607359.1 + 14 2463 c.2463A>T c.(2461-2463)atA>atT p.I821I GPR123_ENST00000392607.3_Silent_p.I101I|GPR123_ENST00000392606.2_Silent_p.I4I Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 101 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TGCTGTGGATAGGAGTGACCG 0.637000 11 30 0 0 0.105934 0 0 LTF 4057 broad.mit.edu 37 3 46491363 46491363 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:46491363G>T ENST00000231751.4 - 8 1333 c.1038C>A c.(1036-1038)gcC>gcA p.A346A LTF_ENST00000426532.2_Silent_p.A302A|LTF_ENST00000417439.1_Silent_p.A346A NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 346 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) AGTTCTGGATGGCAGTGAAGT 0.572000 20 36 1.10513e-12 1.33666e-12 0.069288 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113518865 113518865 + Missense_Mutation SNP C C A rs62001880 byFrequency TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:113518865C>A ENST00000284601.3 - 4 2350 c.2282G>T c.(2281-2283)cGa>cTa p.R761L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 761 glycogen metabolic process integral to membrane p.R761Q(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CCTGTCACTTCGTGCTGTCTC 0.413000 29 43 8.16721e-17 1.04012e-16 0.045705 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(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) agcagcagcagcaacaacagc 0.562000 5 44 0 0 0.021553 0 0 DST 667 broad.mit.edu 37 6 56483599 56483599 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:56483599C>G ENST00000370765.6 - 23 5340 c.5233G>C c.(5233-5235)Ggt>Cgt p.G1745R DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1124 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTGAATTTACCAGATTCTTCC 0.368000 82 163 0 0 0.139131 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140810965 140810965 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:140810965G>T ENST00000252085.3 + 1 781 c.639G>T c.(637-639)acG>acT p.T213T PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTCCTTACGGCCTCCGACG 0.627000 44 100 1.06522e-23 1.48309e-23 0.131918 1 0 ITPR1 3708 broad.mit.edu 37 3 4704822 4704822 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:4704822G>A ENST00000302640.8 + 15 1791 c.1441G>A c.(1441-1443)Gaa>Aaa p.E481K ITPR1_ENST00000456211.2_Missense_Mutation_p.E481K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E496K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E496K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E496K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.E481K NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 496 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) AGATGTTCTCGAAGTTGTCTT 0.463000 5 43 0 0 0.029380 0 0 MOXD1 26002 broad.mit.edu 37 6 132713365 132713365 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:132713365G>T ENST00000392401.3 - 2 386 c.338C>A c.(337-339)gCc>gAc p.A113D MOXD1_ENST00000367963.3_Intron Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 0 DOMON. catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TCAGCAAGTGGCCCGGCAGCA 0.448000 5 3 2.0095e-06 2.21403e-06 0.029380 1 0 MUC17 140453 broad.mit.edu 37 7 100681296 100681296 + Nonsense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:100681296C>A ENST00000306151.4 + 3 6663 c.6599C>A c.(6598-6600)tCa>tAa p.S2200* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2200 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) GAAGCCCGTTCATCTCCTACA 0.512000 250 384 7.74488e-135 1.2948e-134 0.139131 1 0 ITGA8 8516 broad.mit.edu 37 10 15634292 15634292 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:15634292G>T ENST00000378076.3 - 22 2576 c.2223C>A c.(2221-2223)ggC>ggA p.G741G NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 741 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CAAATCGGAGGCCCAGGGAAT 0.378000 8 37 0.000157383 0.000165405 0.038147 1 0 HIST2H2BB 338391 broad.mit.edu 37 1 149376868 149376868 + RNA SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:149376868G>T ENST00000415338.1 - 0 1061 ACTGCTAGAAGAGAAGACTCT 0.502000 10 14 2.17888e-05 2.31807e-05 0.058154 1 0 KCNJ4 3761 broad.mit.edu 37 22 38823405 38823405 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr22:38823405C>T ENST00000303592.3 - 2 991 c.733G>A c.(733-735)Ggc>Agc p.G245S NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 245 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) ATGTCATAGCCCACGTTGAGG 0.622000 15 50 0 0 0.033300 0 0 COL17A1 1308 broad.mit.edu 37 10 105801268 105801268 + Silent SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:105801268G>C ENST00000353479.5 - 37 2870 c.2580C>G c.(2578-2580)ggC>ggG p.G860G COL17A1_ENST00000369733.3_Silent_p.G860G NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 860 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGCCGGGTGGGCCTGGGGGAC 0.522000 5 14 0 0 0.038147 0 0 CACNA1C 775 broad.mit.edu 37 12 2224520 2224520 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:2224520G>T ENST00000399655.1 + 2 445 c.180G>T c.(178-180)cgG>cgT p.R60R CACNA1C_ENST00000347598.4_Silent_p.R60R|CACNA1C_ENST00000327702.7_Silent_p.R60R|CACNA1C_ENST00000335762.5_Silent_p.R60R|CACNA1C_ENST00000399638.1_Silent_p.R60R|CACNA1C_ENST00000399649.1_Silent_p.R60R|CACNA1C_ENST00000399641.1_Silent_p.R60R|CACNA1C_ENST00000344100.3_Silent_p.R60R|CACNA1C_ENST00000399595.1_Silent_p.R60R|CACNA1C_ENST00000399634.1_Silent_p.R60R|CACNA1C_ENST00000480911.1_Silent_p.R60R|CACNA1C_ENST00000399629.1_Silent_p.R60R|CACNA1C_ENST00000399603.1_Silent_p.R60R|CACNA1C_ENST00000399601.1_Silent_p.R60R|CACNA1C_ENST00000399644.1_Silent_p.R60R|CACNA1C_ENST00000399617.1_Silent_p.R60R|CACNA1C_ENST00000399621.1_Silent_p.R60R|CACNA1C_ENST00000402845.3_Silent_p.R60R|CACNA1C_ENST00000399606.1_Silent_p.R60R|CACNA1C_ENST00000406454.3_Silent_p.R60R|CACNA1C_ENST00000399637.1_Silent_p.R60R|CACNA1C_ENST00000399597.1_Silent_p.R60R|CACNA1C_ENST00000399591.1_Silent_p.R60R NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 60 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACGCAGCCCGGCAGGCTAAGC 0.657000 6 2 0.0215528 0.0219069 0.021553 1 0 GRIK5 2901 broad.mit.edu 37 19 42569487 42569487 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:42569487C>A ENST00000262895.3 - 2 131 c.132G>T c.(130-132)ttG>ttT p.L44F GRIK5_ENST00000593562.1_Missense_Mutation_p.L44F|GRIK5_ENST00000301218.4_Missense_Mutation_p.L44F NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 44 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) GGGCCAAGGCCAAGGCCAGAC 0.607000 11 64 2.61681e-11 3.12143e-11 0.119110 1 0 NPHS1 4868 broad.mit.edu 37 19 36322237 36322237 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:36322237C>A ENST00000378910.5 - 26 3347 c.3348G>T c.(3346-3348)gaG>gaT p.E1116D NPHS1_ENST00000353632.6_Missense_Mutation_p.E1076D NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 1116 cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCACTGGCTCTCCTCATATT 0.632000 62 67 3.12118e-38 4.84399e-38 0.139131 1 0 MYBPC3 4607 broad.mit.edu 37 11 47355473 47355473 + Splice_Site SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:47355473C>G ENST00000399249.2 - 27 3048 c.2994_splice c.e27+1 p.Q998_splice MYBPC3_ENST00000256993.4_Splice_Site_p.Q997_splice|MYBPC3_ENST00000545968.1_Splice_Site_p.Q998_splice Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 997 Ig-like C2-type 6. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CCAGTCCCACCTGGAAAGGGA 0.597000 4 5 0 0 0.014758 0 0 ZNF382 84911 broad.mit.edu 37 19 37117290 37117290 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:37117290G>T ENST00000435416.1 + 3 1983 c.488G>T c.(487-489)aGt>aTt p.S163I ZNF382_ENST00000439428.1_Missense_Mutation_p.S163I|ZNF382_ENST00000292928.2_Missense_Mutation_p.S164I|ZNF382_ENST00000423582.1_Missense_Mutation_p.S115I Q96SR6 ZN382_HUMAN zinc finger protein 382 164 Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTTGGTGACAGTACTGGATGG 0.348000 80 123 4.18329e-38 6.46916e-38 0.139131 1 0 UBR7 55148 broad.mit.edu 37 14 93685632 93685632 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:93685632G>C ENST00000013070.6 + 8 1121 c.885G>C c.(883-885)caG>caC p.Q295H UBR7_ENST00000416753.1_Missense_Mutation_p.Q219H NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) 295 ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 AAGCTAAGCAGCTTATAAAGA 0.413000 15 27 0 0 0.038395 0 0 NPY5R 4889 broad.mit.edu 37 4 164272515 164272515 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:164272515C>A ENST00000515560.1 + 4 2612 c.1090C>A c.(1090-1092)Cga>Aga p.R364R NPY5R_ENST00000338566.3_Silent_p.R364R|NPY5R_ENST00000506953.1_Silent_p.R364R Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 364 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.R364G(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) AAAGAGATCTCGAAGTGTTTT 0.363000 31 43 7.61165e-28 1.09862e-27 0.064281 1 0 TSG101 7251 broad.mit.edu 37 11 18505466 18505466 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:18505466T>C ENST00000536719.1 - 8 928 c.794A>G c.(793-795)aAg>aGg p.K265R TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000251968.3_Missense_Mutation_p.K265R Q99816 TS101_HUMAN tumor susceptibility 101 265 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 CTGGTGACCCTTTTTCAGGTC 0.438000 4 359 0 0 0.029380 0 0 GIMAP2 26157 broad.mit.edu 37 7 150390156 150390156 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:150390156G>T ENST00000223293.5 + 3 876 c.782G>T c.(781-783)tGc>tTc p.C261F NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 261 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAGCAAACTGCCTAAAAGGA 0.388000 10 28 0.000442599 0.000458482 0.058154 1 0 NRXN1 9378 broad.mit.edu 37 2 51254811 51254811 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:51254811C>T ENST00000404971.1 - 2 1940 c.601G>A c.(601-603)Gag>Aag p.E201K NRXN1_ENST00000405472.3_Missense_Mutation_p.E201K|NRXN1_ENST00000406859.3_Missense_Mutation_p.E201K|NRXN1_ENST00000405581.1_Missense_Mutation_p.E201K|NRXN1_ENST00000402717.3_Missense_Mutation_p.E201K|NRXN1_ENST00000401669.2_Missense_Mutation_p.E201K|NRXN1_ENST00000406316.2_Missense_Mutation_p.E201K NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 201 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AGCTTCACCTCGCCGCTGTCC 0.697000 4 15 0 0 0.021553 0 0 S100A7L2 645922 broad.mit.edu 37 1 153410795 153410795 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:153410795G>T ENST00000368725.2 - 2 43 c.44C>A c.(43-45)cCt>cAt p.P15H NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CTCACCTAGAGGGATATTCAT 0.398000 30 82 5.71845e-15 7.09481e-15 0.080422 1 0 MAGEC1 9947 broad.mit.edu 37 X 140994193 140994193 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chrX:140994193C>A ENST00000285879.4 + 4 1289 c.1003C>A c.(1003-1005)Cag>Aag p.Q335K MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 335 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGGTTTTCCCCAGTCTCTTCT 0.458000 HNSCC(15;0.026) 100 49 4.4634e-40 7.02783e-40 0.139131 1 0 RAPGEF6 51735 broad.mit.edu 37 5 130791538 130791538 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:130791538G>A ENST00000509018.1 - 20 3237 c.3032C>T c.(3031-3033)cCa>cTa p.P1011L FNIP1_ENST00000514667.1_Missense_Mutation_p.P1061L|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.P1011L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.P1011L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.P1011L|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.P726L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.P1016L NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1011 Ras-GEF. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AGGGAAGAGTGGAATAATTGG 0.323000 33 89 0 0 0.092188 0 0 PARD3B 117583 broad.mit.edu 37 2 206165336 206165336 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:206165336G>T ENST00000406610.2 + 17 2475 c.2268G>T c.(2266-2268)gaG>gaT p.E756D PARD3B_ENST00000358768.2_Missense_Mutation_p.E694D|PARD3B_ENST00000349953.3_Missense_Mutation_p.E756D|PARD3B_ENST00000462231.1_Missense_Mutation_p.E756D|PARD3B_ENST00000351153.1_Intron NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 756 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CAGTGGCCGAGGTCAGGAAGA 0.522000 53 86 1.59911e-31 2.38764e-31 0.139131 1 0 CCDC67 159989 broad.mit.edu 37 11 93118567 93118567 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:93118567A>G ENST00000298050.3 + 8 893 c.793A>G c.(793-795)Atg>Gtg p.M265V CCDC67_ENST00000525646.1_Missense_Mutation_p.M7V NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 265 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TATTCAGGCCATGGAAGCAGG 0.318000 14 24 0 0 0.062417 0 0 GJA1 2697 broad.mit.edu 37 6 121769134 121769134 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:121769134G>A ENST00000282561.3 + 2 1298 c.1141G>A c.(1141-1143)Gag>Aag p.E381K NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 381 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TGATGACCTGGAGATCTAGAT 0.498000 17 63 0 0 0.069288 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73339574 73339574 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:73339574G>A ENST00000258098.6 - 1 572 c.332C>T c.(331-333)aCc>aTc p.T111I NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 111 C2. protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GTGCATGGTGGTGAGCACCAG 0.771000 12 7 0 0 0.093190 0 0 KIAA1551 55196 broad.mit.edu 37 12 32137352 32137352 + Nonsense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:32137352G>T ENST00000312561.4 + 4 3877 c.3463G>T c.(3463-3465)Gga>Tga p.G1155* KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 ACCTGCAGCTGGACAAAGTCG 0.498000 72 51 9.04243e-43 1.43948e-42 0.139131 1 0 ZNF142 7701 broad.mit.edu 37 2 219508688 219508688 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:219508688G>A ENST00000411696.2 - 7 3330 c.2551C>T c.(2551-2553)Ctg>Ttg p.L851L ZNF142_ENST00000449707.1_Silent_p.L851L P52746 ZN142_HUMAN zinc finger protein 142 851 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGCAGATTCAGGGCCTTCTCC 0.642000 26 85 0 0 0.099896 0 0 POTEE 445582 broad.mit.edu 37 2 131984420 131984420 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:131984420G>T ENST00000356920.5 + 4 929 c.835G>T c.(835-837)Ggt>Tgt p.G279C PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G289C NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 279 ATP binding p.G289C(1)|p.G279C(1) ACTGTTACTTGGTGTACATGA 0.323000 27 170 2.35958e-20 3.16316e-20 0.111260 1 0 PAK3 5063 broad.mit.edu 37 X 110385361 110385361 + Silent SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chrX:110385361T>C ENST00000519681.1 + 6 655 c.213T>C c.(211-213)tcT>tcC p.S71S PAK3_ENST00000360648.4_Silent_p.S71S|PAK3_ENST00000518291.1_Silent_p.S71S|PAK3_ENST00000372010.1_Silent_p.S71S|PAK3_ENST00000372007.4_Silent_p.S71S|PAK3_ENST00000417227.1_Silent_p.S71S|PAK3_ENST00000262836.4_Silent_p.S71S|PAK3_ENST00000425146.1_Silent_p.S71S|PAK3_ENST00000446737.1_Silent_p.S71S O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 71 Autoregulatory region (By similarity).|CRIB.|GTPase-binding (By similarity). multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CAGAGATCTCTCTTCCTTCAG 0.413000 TSP Lung(19;0.15) 110 43 0 0 0.139131 0 0 MECOM 2122 broad.mit.edu 37 3 168818745 168818745 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:168818745C>G ENST00000464456.1 - 10 3386 c.2186G>C c.(2185-2187)tGt>tCt p.C729S MECOM_ENST00000460814.1_Missense_Mutation_p.C729S|MECOM_ENST00000468789.1_Missense_Mutation_p.C738S|MECOM_ENST00000433243.2_Missense_Mutation_p.C739S|MECOM_ENST00000472280.1_Missense_Mutation_p.C739S|MECOM_ENST00000264674.3_Missense_Mutation_p.C803S|MECOM_ENST00000392736.3_Missense_Mutation_p.C738S|MECOM_ENST00000494292.1_Missense_Mutation_p.C917S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AATCTTGCCACAGTATCTGTT 0.403000 21 72 0 0 0.116897 0 0 DAAM2 23500 broad.mit.edu 37 6 39832223 39832223 + Silent SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:39832223C>T ENST00000538976.1 + 4 455 c.273C>T c.(271-273)ccC>ccT p.P91P DAAM2_ENST00000398904.2_Silent_p.P91P|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Silent_p.P91P NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 91 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) AGGAGGACCCCAACAAGCTGG 0.582000 10 24 0 0 0.093190 0 0 SCAND3 114821 broad.mit.edu 37 6 28540252 28540252 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:28540252C>A ENST00000452236.2 - 4 4031 c.3414G>T c.(3412-3414)caG>caT p.Q1138H NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1138 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 cttctaacttctgtttttgtc 0.294000 34 76 6.33695e-27 9.02598e-27 0.098360 1 0 CLEC5A 23601 broad.mit.edu 37 7 141629976 141629976 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:141629976G>A ENST00000546910.1 - 7 691 c.495C>T c.(493-495)ggC>ggT p.G165G MGAM_ENST00000497554.1_Intron|CLEC5A_ENST00000551012.2_Silent_p.G142G|CLEC5A_ENST00000439991.1_Silent_p.G61G NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 165 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) TCTTTGTTAGGCCAATGGTCG 0.383000 26 101 0 0 0.069456 0 0 ITPR3 3710 broad.mit.edu 37 6 33630399 33630399 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:33630399T>A ENST00000374316.5 + 9 1866 c.806T>A c.(805-807)cTg>cAg p.L269Q ITPR3_ENST00000605930.1_Missense_Mutation_p.L269Q Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 269 Inositol-1,4,5-triphosphate binding (By similarity).|MIR 3. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CGAACTACACTGCGCCAGTCT 0.612000 26 56 0 0 0.054565 0 0 OR9G1 390174 broad.mit.edu 37 11 56468283 56468283 + Silent SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:56468283T>C ENST00000312153.1 + 1 420 c.420T>C c.(418-420)tgT>tgC p.C140C NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 TAAAGCTGTGTGCATTGCTGG 0.478000 34 135 0 0 0.111260 0 0 TMEM132A 54972 broad.mit.edu 37 11 60696293 60696293 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:60696293G>T ENST00000005286.4 + 4 880 c.727G>T c.(727-729)Gac>Tac p.D243Y TMEM132A_ENST00000453848.2_Missense_Mutation_p.D243Y NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 243 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GCGCCCAGCAGACCCCCCGCA 0.692000 9 29 7.48243e-07 8.3935e-07 0.058154 1 0 UNC79 57578 broad.mit.edu 37 14 94004462 94004462 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:94004462G>T ENST00000553484.1 + 12 1404 c.1250G>T c.(1249-1251)gGg>gTg p.G417V UNC79_ENST00000256339.4_Missense_Mutation_p.G240V|UNC79_ENST00000555664.1_Missense_Mutation_p.G417V|UNC79_ENST00000393151.2_Missense_Mutation_p.G417V Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 417 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AATGAAGTGGGGGCCGCTGCG 0.597000 25 43 1.32181e-22 1.82275e-22 0.125774 1 0 PCDHB14 56122 broad.mit.edu 37 5 140603146 140603146 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:140603146G>T ENST00000239449.4 + 1 69 c.69G>T c.(67-69)ttG>ttT p.L23F PCDHB14_ENST00000515856.2_Intron NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 23 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTGGGATTGTCTCGGGCAG 0.483000 34 28 9.17885e-22 1.24982e-21 0.059317 1 0 CHRNA1 1134 broad.mit.edu 37 2 175629093 175629093 + Silent SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:175629093A>G ENST00000348749.5 - 1 107 c.30T>C c.(28-30)ttT>ttC p.F10F CHRNA1_ENST00000409542.1_Silent_p.F10F|CHRNA1_ENST00000409219.1_Silent_p.F10F|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Silent_p.F10F|CHRNA1_ENST00000261007.5_Silent_p.F10F NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 10 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 AGCAAAGGCTAAAGAGCAGGA 0.592000 14 19 0 0 0.146539 0 0 ABCC4 10257 broad.mit.edu 37 13 95725508 95725508 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr13:95725508T>A ENST00000376887.4 - 24 3082 c.2968A>T c.(2968-2970)Atg>Ttg p.M990L ABCC4_ENST00000412704.1_Missense_Mutation_p.M943L|ABCC4_ENST00000474158.1_5'UTR NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 990 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) AACATCCCCATGAGCGTGAGG 0.453000 40 34 0 0 0.139131 0 0 BICC1 80114 broad.mit.edu 37 10 60580187 60580187 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:60580187C>G ENST00000373886.3 + 20 2757 c.2753C>G c.(2752-2754)aCt>aGt p.T918S NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 918 SAM. multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 CTGGGAATAACTACTTTTGGT 0.388000 4 81 0 0 0.021553 0 0 DOK5 55816 broad.mit.edu 37 20 53208292 53208292 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:53208292G>A ENST00000262593.5 + 5 897 c.547G>A c.(547-549)Gcc>Acc p.A183T DOK5_ENST00000395939.1_Missense_Mutation_p.A75T NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 183 IRS-type PTB. insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) GCCGCTAAGCGCCCTGCGGCG 0.458000 43 67 0 0 0.139131 0 0 OR4C15 81309 broad.mit.edu 37 11 55322040 55322040 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:55322040C>A ENST00000314644.2 + 1 258 c.258C>A c.(256-258)gtC>gtA p.V86V NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V86V(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTTTGTTTGTCTACATTGCAA 0.413000 HNSCC(20;0.049) 70 88 5.02053e-37 7.73626e-37 0.139131 1 0 PCDHB13 56123 broad.mit.edu 37 5 140595284 140595284 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:140595284G>A ENST00000341948.4 + 1 1776 c.1589G>A c.(1588-1590)cGc>cAc p.R530H NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 530 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCAGTTCCGCGTGGGCGCT 0.672000 24 125 0 0 0.083992 0 0 TENM2 57451 broad.mit.edu 37 5 167674960 167674960 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:167674960C>G ENST00000519204.1 + 26 6771 c.6653C>G c.(6652-6654)tCc>tGc p.S2218C TENM2_ENST00000520394.1_Missense_Mutation_p.S2100C|TENM2_ENST00000518659.1_Missense_Mutation_p.S2339C|TENM2_ENST00000403607.2_Missense_Mutation_p.S2163C|TENM2_ENST00000545108.1_Missense_Mutation_p.S2338C teneurin transmembrane protein 2 TACAATCACTCCAACTCGGAG 0.557000 23 159 0 0 0.076483 0 0 NPC1 4864 broad.mit.edu 37 18 21120446 21120446 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr18:21120446T>A ENST00000269228.5 - 17 3124 c.2570A>T c.(2569-2571)gAt>gTt p.D857V NPC1_ENST00000412552.2_Missense_Mutation_p.D539V|NPC1_ENST00000540608.1_5'UTR NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 857 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) CAATCCAATATCTACTTTGTT 0.333000 31 20 0 0 0.104719 0 0 ZNF496 84838 broad.mit.edu 37 1 247492785 247492785 + Silent SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:247492785C>T ENST00000294753.4 - 3 560 c.96G>A c.(94-96)caG>caA p.Q32Q ZNF496_ENST00000366498.2_Silent_p.Q32Q NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 32 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GAAGCTCCCCCTGGGGGCTAG 0.687000 47 25 0 0 0.139131 0 0 PRG4 10216 broad.mit.edu 37 1 186276227 186276227 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:186276227C>A ENST00000445192.2 + 7 1421 c.1376C>A c.(1375-1377)cCt>cAt p.P459H PRG4_ENST00000367485.4_Missense_Mutation_p.P366H|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P418H|PRG4_ENST00000367486.3_Missense_Mutation_p.P416H NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 459 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCCAAGGAGCCTACACCCACC 0.652000 15 86 1.40151e-16 1.77443e-16 0.055883 1 0 ZNF25 219749 broad.mit.edu 37 10 38242683 38242683 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:38242683T>C ENST00000302609.7 - 5 454 c.242A>G c.(241-243)gAc>gGc p.D81G ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 81 D -> G (in a breast cancer sample; somatic mutation). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D81G(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) GCTCCATAGGTCTTCTACAAG 0.328000 28 31 0 0 0.069456 0 0 EPRS 2058 broad.mit.edu 37 1 220154793 220154793 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:220154793T>C ENST00000366923.3 - 24 3649 c.3380A>G c.(3379-3381)tAt>tGt p.Y1127C NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1127 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ATATGCAGGATACATTACTGA 0.408000 9 119 0 0 0.093190 0 0 PNKP 11284 broad.mit.edu 37 19 50364720 50364720 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:50364720G>C ENST00000600910.1 - 15 1423 c.1324C>G c.(1324-1326)Cat>Gat p.H442D PNKP_ENST00000596014.1_Silent_p.V478V|PNKP_ENST00000322344.3_Silent_p.V478V|PNKP_ENST00000600573.1_Silent_p.V447V Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 0 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) AGCCATACATGACCATGTCTG 0.617000 Other BER factors 45 147 0 0 0.139131 0 0 ESR2 2100 broad.mit.edu 37 14 64727365 64727365 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:64727365C>T ENST00000557772.1 - 4 753 c.754G>A c.(754-756)Gcg>Acg p.A252T ESR2_ENST00000357782.2_Missense_Mutation_p.A252T|ESR2_ENST00000353772.3_Missense_Mutation_p.A252T|ESR2_ENST00000358599.5_Missense_Mutation_p.A252T|ESR2_ENST00000341099.4_Missense_Mutation_p.A252T|ESR2_ENST00000555278.1_Missense_Mutation_p.A252T|ESR2_ENST00000554572.1_Missense_Mutation_p.A252T|ESR2_ENST00000553796.1_Missense_Mutation_p.A252T|ESR2_ENST00000542956.1_Missense_Mutation_p.A252T|ESR2_ENST00000267525.6_Missense_Mutation_p.A252T|ESR2_ENST00000555483.1_5'UTR NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 252 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) ACTCGGGGCGCGTGGCCGCCA 0.682000 7 27 0 0 0.029380 0 0 LRP1B 53353 broad.mit.edu 37 2 141027839 141027839 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:141027839C>G ENST00000389484.3 - 86 14190 c.13219G>C c.(13219-13221)Gac>Cac p.D4407H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4407 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTCTCGGGGTCCAGCTGGCAT 0.403000 TSP Lung(27;0.18) 44 100 0 0 0.139131 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541263 178541263 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:178541263A>T ENST00000251582.7 - 22 3342 c.3241T>A c.(3241-3243)Tcc>Acc p.S1081T NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1081 PLAC. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CCTGGGATGGAGCAATAGCGG 0.507000 14 79 0 0 0.033300 0 0 GCKR 2646 broad.mit.edu 37 2 27722027 27722027 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:27722027G>A ENST00000264717.2 + 6 510 c.447G>A c.(445-447)agG>agA p.R149R GCKR_ENST00000424318.2_Intron NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 149 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TGGCCTCTAGGGAGGGGACAG 0.502000 27 35 0 0 0.074837 0 0 TTN 7273 broad.mit.edu 37 2 179396767 179396767 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:179396767G>A ENST00000589042.1 - 358 104799 c.104575C>T c.(104575-104577)Cgg>Tgg p.R34859W TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25919W|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25794W|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33218W|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25986W|TTN_ENST00000342992.6_Missense_Mutation_p.R32291W|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33218 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGACGTGACCGGATCAGCTCA 0.522000 3 59 0 0 0.115264 0 0 COL5A3 50509 broad.mit.edu 37 19 10099827 10099827 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:10099827C>A ENST00000264828.3 - 27 2203 c.2118G>T c.(2116-2118)ccG>ccT p.P706P NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 706 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CAGGATAGCCCGGAGGGCCTG 0.547000 37 51 4.10826e-27 5.87088e-27 0.139131 1 0 PPT1 5538 broad.mit.edu 37 1 40539814 40539814 + Silent SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:40539814T>A ENST00000433473.3 - 9 1304 c.840A>T c.(838-840)ctA>ctT p.L280L PPT1_ENST00000530076.1_Silent_p.L61L|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_Silent_p.L177L NM_000310.3 NP_000301.1 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 280 brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAGAAACACTAGCTGTCCTG 0.423000 19 71 0 0 0.062417 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28733939 28733939 + RNA SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:28733939G>A ENST00000550043.1 + 0 344 GTAGCTCCAAGAGTTCTCACT 0.488000 22 81 0 0 0.108266 0 0 ROPN1L 83853 broad.mit.edu 37 5 10450214 10450214 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:10450214A>T ENST00000503804.1 + 4 927 c.406A>T c.(406-408)Atg>Ttg p.M136L ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Missense_Mutation_p.M136L Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 136 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 TGGATGCAGCATGCTTGGTGG 0.378000 60 125 0 0 0.139131 0 0 ABCA3 21 broad.mit.edu 37 16 2354054 2354054 + Silent SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:2354054C>T ENST00000301732.5 - 12 2083 c.1383G>A c.(1381-1383)gtG>gtA p.V461V ABCA3_ENST00000382381.3_Silent_p.V403V NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 461 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GGCCATAGAGCACAGAGTCCA 0.612000 35 332 0 0 0.124865 0 0 CSPG4 1464 broad.mit.edu 37 15 75981600 75981600 + Silent SNP G G T rs112532713 TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr15:75981600G>T ENST00000308508.5 - 3 1898 c.1806C>A c.(1804-1806)ccC>ccA p.P602P NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 602 Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGCGCTCCACGGGGAGGCCAG 0.682000 11 24 6.40141e-05 6.76051e-05 0.080935 1 0 UGT3A1 133688 broad.mit.edu 37 5 35965844 35965844 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:35965844C>T ENST00000274278.3 - 4 844 c.487G>A c.(487-489)Gtg>Atg p.V163M UGT3A1_ENST00000333811.4_Missense_Mutation_p.V109M|UGT3A1_ENST00000503189.1_Missense_Mutation_p.V163M|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.V129M NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 163 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGAATGGCCACAAATGGTTTC 0.413000 29 43 0 0 0.144211 0 0 ZNF730 100129543 broad.mit.edu 37 19 23316881 23316881 + Splice_Site SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:23316881G>T ENST00000597761.2 + 2 202 c.e2-1 ZNF730_ENST00000593635.1_Splice_Site NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 GTGTTTTTCAGGGAGCGTTGA 0.378000 12 69 2.32078e-09 2.67973e-09 0.132662 1 0 NPC1L1 29881 broad.mit.edu 37 7 44578734 44578734 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:44578734C>A ENST00000289547.4 - 2 1317 c.1262G>T c.(1261-1263)aGg>aTg p.R421M NPC1L1_ENST00000546276.1_Missense_Mutation_p.R421M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R421M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.R421M NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 421 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGAGTCATACCTGTAGCTGGA 0.592000 6 95 0.00307968 0.003175 0.038147 1 0 BAAT 570 broad.mit.edu 37 9 104133595 104133595 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr9:104133595C>T ENST00000259407.2 - 2 200 c.92G>A c.(91-93)aGt>aAt p.S31N BAAT_ENST00000395051.3_Missense_Mutation_p.S31N NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 31 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TGCCTGAAAACTCACCATCTG 0.458000 11 117 0 0 0.093190 0 0 ARIH2OS 646450 broad.mit.edu 37 3 48955836 48955836 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:48955836G>A ENST00000408959.2 - 1 982 c.747C>T c.(745-747)cgC>cgT p.R249R NM_001123040.1 NP_001116512.1 ariadne homolog 2 opposite strand GGAGAACTGCGCGGCGAACGA 0.577000 42 61 0 0 0.139131 0 0 TMEM143 55260 broad.mit.edu 37 19 48836552 48836552 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:48836552C>T ENST00000293261.3 - 8 1620 c.1304G>A c.(1303-1305)gGt>gAt p.G435D TMEM143_ENST00000541566.1_Missense_Mutation_p.G325D|TMEM143_ENST00000436660.2_Missense_Mutation_p.G370D|TMEM143_ENST00000435956.3_Missense_Mutation_p.G400D|TMEM143_ENST00000377431.2_Missense_Mutation_p.G335D NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 435 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) TTTGGGGAAACCCGGGGGTGG 0.622000 19 66 0 0 0.049695 0 0 ABCB5 340273 broad.mit.edu 37 7 20698692 20698692 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:20698692A>T ENST00000443026.2 + 6 922 c.376A>T c.(376-378)Acc>Tcc p.T126S ABCB5_ENST00000404938.2_Intron|ABCB5_ENST00000406935.1_Intron|ABCB5_ENST00000258738.6_Intron NM_001163942.1 NP_001157414.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 0 ABC transporter 1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TCTTTAGGATACCCCCAGGTA 0.488000 75 115 0 0 0.139131 0 0 UNC80 285175 broad.mit.edu 37 2 210658455 210658455 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:210658455G>A ENST00000439458.1 + 7 890 c.810G>A c.(808-810)gtG>gtA p.V270V UNC80_ENST00000272845.5_Silent_p.V270V|UNC80_ENST00000478701.1_3'UTR NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 270 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 GACTCCAGGTGGTTTGTGAAA 0.428000 44 90 0 0 0.139131 0 0 CDC20B 166979 broad.mit.edu 37 5 54420695 54420695 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:54420695T>C ENST00000296733.1 - 9 1325 c.1151A>G c.(1150-1152)cAc>cGc p.H384R CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.H384R|CDC20B_ENST00000322374.6_Missense_Mutation_p.H384R NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 384 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) ACCTGGATCGTGGGGCCATAT 0.537000 43 81 0 0 0.139131 0 0 PRKCB 5579 broad.mit.edu 37 16 24183630 24183630 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:24183630G>C ENST00000303531.7 + 11 1431 c.1279G>C c.(1279-1281)Gac>Cac p.D427H PRKCB_ENST00000321728.7_Missense_Mutation_p.D427H NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 427 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GAATGGGGGCGACCTCATGTA 0.527000 7 42 0 0 0.038147 0 0 CSMD1 64478 broad.mit.edu 37 8 2813174 2813174 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:2813174C>G ENST00000602557.1 - 65 10489 c.9934G>C c.(9934-9936)Gga>Cga p.G3312R CSMD1_ENST00000400186.3_Missense_Mutation_p.G3135R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3311R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3134R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3312R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3135R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3312 Sushi 28. G -> W (in dbSNP:rs34079122). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCTCAGATCCCCCTGCGAGG 0.493000 32 28 0 0 0.064281 0 0 SYT6 148281 broad.mit.edu 37 1 114646279 114646279 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:114646279G>T ENST00000393296.1 - 4 1213 c.1136C>A c.(1135-1137)aCc>aAc p.T379N SYT6_ENST00000369547.1_Missense_Mutation_p.T294N Q5T7P8 SYT6_HUMAN synaptotagmin VI 379 C2 2. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CACTGTGAGGGTGAGCCTGCC 0.542000 32 38 6.97489e-18 9.04229e-18 0.074837 1 0 THBS3 7059 broad.mit.edu 37 1 155173313 155173313 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:155173313A>T ENST00000368378.3 - 5 684 c.664T>A c.(664-666)Tcc>Acc p.S222T THBS3_ENST00000428962.2_Missense_Mutation_p.S102T|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.S102T|THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 222 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTAGAATGGAGTGCAGTGCA 0.562000 8 36 0 0 0.093190 0 0 KCNB1 3745 broad.mit.edu 37 20 47989745 47989745 + Silent SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:47989745C>T ENST00000371741.4 - 2 2518 c.2352G>A c.(2350-2352)ccG>ccA p.P784P NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 784 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGCTGAACTTCGGACTGGTGC 0.532000 7 566 0 0 0.058154 0 0 FNIP2 57600 broad.mit.edu 37 4 159789520 159789520 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:159789520C>G ENST00000264433.6 + 13 1807 c.1732C>G c.(1732-1734)Ctt>Gtt p.L578V FNIP2_ENST00000379346.3_Missense_Mutation_p.L601V NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 578 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) CGAGCCCGCTCTTGTACCCCC 0.547000 21 52 0 0 0.099896 0 0 BOLA1 51027 broad.mit.edu 37 1 149871659 149871659 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:149871659G>A ENST00000369153.2 + 3 711 c.47G>A c.(46-48)cGc>cAc p.R16H BOLA1_ENST00000476344.1_Intron|BOLA1_ENST00000369152.5_Missense_Mutation_p.R16H|BOLA1_ENST00000369150.1_Missense_Mutation_p.R16H Q9Y3E2 BOLA1_HUMAN bolA family member 1 16 extracellular region protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) ATGGCTGGCCGCGTTTGTTTG 0.687000 40 33 0 0 0.131918 0 0 LILRB1 10859 broad.mit.edu 37 19 55143550 55143550 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:55143550C>A ENST00000396331.1 + 6 880 c.523C>A c.(523-525)Cgt>Agt p.R175S LILRB1_ENST00000396327.3_Missense_Mutation_p.R175S|LILRB1_ENST00000427581.2_Missense_Mutation_p.R211S|LILRB1_ENST00000396321.2_Missense_Mutation_p.R175S|LILRB1_ENST00000396315.1_Missense_Mutation_p.R175S|LILRB1_ENST00000396332.4_Missense_Mutation_p.R175S|LILRB1_ENST00000434867.2_Missense_Mutation_p.R175S|LILRB1_ENST00000418536.2_Missense_Mutation_p.R175S|LILRB1_ENST00000324602.7_Missense_Mutation_p.R175S|LILRB1_ENST00000448689.1_Missense_Mutation_p.R175S|LILRB1_ENST00000396317.1_Missense_Mutation_p.R175S NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 175 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GCCCCATGCCCGTGGGTCGTC 0.572000 HNSCC(37;0.09) 32 139 2.66277e-13 3.2387e-13 0.092188 1 0 CMKLR1 1240 broad.mit.edu 37 12 108686396 108686396 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:108686396C>A ENST00000312143.7 - 3 707 c.344G>T c.(343-345)aGc>aTc p.S115I CMKLR1_ENST00000550402.1_Missense_Mutation_p.S115I|CMKLR1_ENST00000412676.1_Missense_Mutation_p.S115I|CMKLR1_ENST00000397688.2_Missense_Mutation_p.S113I|CMKLR1_ENST00000552995.1_Missense_Mutation_p.S113I NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 115 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 AAGGAAGTTGCTGATCTTGCA 0.537000 49 28 8.94452e-30 1.31287e-29 0.139131 1 0 SNTG1 54212 broad.mit.edu 37 8 51621467 51621467 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:51621467C>A ENST00000522124.1 + 17 1874 c.1213C>A c.(1213-1215)Cta>Ata p.L405I SNTG1_ENST00000517473.1_Missense_Mutation_p.L405I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L405I|SNTG1_ENST00000276467.5_Missense_Mutation_p.L405I NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 405 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TGCATGTGTGCTAGAAAGTCA 0.368000 61 94 1.45978e-39 2.29016e-39 0.139131 1 0 PDZRN4 29951 broad.mit.edu 37 12 41966197 41966197 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:41966197C>A ENST00000298919.7 + 10 1224 c.836C>A c.(835-837)aCa>aAa p.T279K PDZRN4_ENST00000402685.2_Missense_Mutation_p.T539K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.T281K Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 539 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAAGGCACAACAGACACTGCA 0.373000 24 32 6.00712e-18 7.83459e-18 0.050027 1 0 RAPGEFL1 51195 broad.mit.edu 37 17 38349644 38349644 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:38349644C>A ENST00000436615.3 + 14 1711 c.1221C>A c.(1219-1221)atC>atA p.I407I RAPGEFL1_ENST00000544503.1_Silent_p.I456I|RAPGEFL1_ENST00000264644.6_Silent_p.I407I|RAPGEFL1_ENST00000456989.2_Silent_p.I462I NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 613 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 TGAGGACAATCCGCAAATACC 0.557000 74 129 2.4313e-29 3.5566e-29 0.139131 1 0 NR2C2 7182 broad.mit.edu 37 3 15057667 15057667 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:15057667G>T ENST00000425241.1 + 4 644 c.282G>T c.(280-282)acG>acT p.T94T NR2C2_ENST00000393102.3_Silent_p.T94T|NR2C2_ENST00000323373.6_Silent_p.T113T|NR2C2_ENST00000406272.2_Silent_p.T94T P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 94 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGATTGTCACGGATTCTGCCT 0.537000 3 99 0.000602214 0.000622336 0.014758 1 0 TSHZ3 57616 broad.mit.edu 37 19 31770444 31770444 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:31770444C>A ENST00000240587.4 - 2 582 c.255G>T c.(253-255)atG>atT p.M85I NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 85 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CAAAGTCAGCCATTCGGTCAC 0.577000 17 24 5.35267e-07 6.03569e-07 0.043863 1 0 CAMLG 819 broad.mit.edu 37 5 134076988 134076988 + Missense_Mutation SNP A A C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:134076988A>C ENST00000297156.2 + 2 528 c.408A>C c.(406-408)agA>agC p.R136S CAMLG_ENST00000514518.1_Intron NM_001745.3 NP_001736.1 P49069 CAMLG_HUMAN calcium modulating ligand 136 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) AGCGGAACAGAGGGGACCTGA 0.542000 35 32 0 0 0.086207 0 0 MDGA2 161357 broad.mit.edu 37 14 47600917 47600917 + Splice_Site SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:47600917C>G ENST00000426342.1 - 5 777 c.31_splice c.e5+1 p.A11_splice MDGA2_ENST00000439988.2_Splice_Site_p.A240_splice|MDGA2_ENST00000357362.3_Splice_Site_p.A11_splice|MDGA2_ENST00000399232.2_Splice_Site_p.A309_splice NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 240 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 AATTCCATACCTGTTTTATTG 0.328000 44 71 0 0 0.139131 0 0 HEATR1 55127 broad.mit.edu 37 1 236751265 236751265 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:236751265C>A ENST00000366582.3 - 13 1723 c.1609G>T c.(1609-1611)Gct>Tct p.A537S HEATR1_ENST00000366581.2_Missense_Mutation_p.A537S NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 537 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GCACTTATAGCCGACAAAACA 0.353000 33 88 1.07121e-22 1.48189e-22 0.092188 1 0 SMPD4 55627 broad.mit.edu 37 2 130931133 130931133 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:130931133C>T ENST00000409031.1 - 4 1488 c.340G>A c.(340-342)Gtg>Atg p.V114M SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000351288.6_Missense_Mutation_p.V114M|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.R26H|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 75 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) ACAGGATTCACGCGCCCCTGT 0.552000 3 80 0 0 0.115264 0 0 SDAD1 55153 broad.mit.edu 37 4 76881291 76881291 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:76881291C>A ENST00000356260.5 - 17 1529 c.1411G>T c.(1411-1413)Gat>Tat p.D471Y SDAD1_ENST00000395711.4_Missense_Mutation_p.D434Y|SDAD1_ENST00000513089.1_5'UTR NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 471 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTTTAGCATCTAATTCTCCA 0.348000 12 21 5.50884e-06 5.94844e-06 0.093190 1 0 EDIL3 10085 broad.mit.edu 37 5 83433076 83433076 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:83433076C>T ENST00000296591.5 - 5 870 c.452G>A c.(451-453)gGa>gAa p.G151E EDIL3_ENST00000380138.3_Missense_Mutation_p.G141E NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 151 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) ACAATTTCTTCCCATAAATTC 0.388000 4 178 0 0 0.009096 0 0 NFRKB 4798 broad.mit.edu 37 11 129739400 129739400 + Missense_Mutation SNP T T G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:129739400T>G ENST00000446488.3 - 23 3623 c.3520A>C c.(3520-3522)Acg>Ccg p.T1174P NFRKB_ENST00000524794.1_Missense_Mutation_p.T1199P|NFRKB_ENST00000524746.1_Missense_Mutation_p.T1174P|NFRKB_ENST00000304521.5_Missense_Mutation_p.T1174P NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 1174 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GCCTGGGACGTGGACACAACC 0.537000 13 65 0 0 0.146539 0 0 C1orf106 55765 broad.mit.edu 37 1 200882703 200882703 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:200882703G>T ENST00000367342.4 + 10 2138 c.1938G>T c.(1936-1938)ggG>ggT p.G646G C1orf106_ENST00000413687.2_Silent_p.G561G|C1orf106_ENST00000465162.1_3'UTR NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 646 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CGCCTGATGGGGCCCCTGTGC 0.557000 21 96 1.5548e-18 2.05253e-18 0.108266 1 0 RORB 6096 broad.mit.edu 37 9 77286764 77286764 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr9:77286764G>C ENST00000376896.2 + 9 1783 c.1171G>C c.(1171-1173)Gca>Cca p.A391P RORB_ENST00000396204.2_Missense_Mutation_p.A402P NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 402 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.A391S(1) breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 AATTTATTTTGCACTTCAACA 0.448000 18 17 0 0 0.069288 0 0 CPS1 1373 broad.mit.edu 37 2 211460216 211460216 + Silent SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:211460216C>G ENST00000233072.5 + 13 1465 c.1269C>G c.(1267-1269)tcC>tcG p.S423S CPS1_ENST00000430249.2_Silent_p.S429S|CPS1_ENST00000451903.2_5'UTR NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 423 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TATAGGTTTCCAAAGTCCTTA 0.393000 56 117 0 0 0.139131 0 0 CACNA1E 777 broad.mit.edu 37 1 181745315 181745315 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:181745315C>G ENST00000526775.1 + 37 5326 c.5161C>G c.(5161-5163)Cac>Gac p.H1721D CACNA1E_ENST00000367573.2_Missense_Mutation_p.H1740D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.H1347D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.H1740D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H1672D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H1691D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H1721D NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1740 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGGGCCTCACCACTTGGACGA 0.602000 32 211 0 0 0.054565 0 0 TARS 6897 broad.mit.edu 37 5 33461811 33461811 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:33461811G>A ENST00000265112.3 + 14 1902 c.1591G>A c.(1591-1593)Gag>Aag p.E531K TARS_ENST00000414361.2_Missense_Mutation_p.E410K|TARS_ENST00000455217.2_Missense_Mutation_p.E564K|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.E531K|TARS_ENST00000541634.1_Missense_Mutation_p.E427K NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 531 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) TGAAAAGTGGGAGTTAAACTC 0.358000 40 103 0 0 0.139131 0 0 CR2 1380 broad.mit.edu 37 1 207658875 207658875 + Silent SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:207658875T>A ENST00000367057.3 + 19 3444 c.3255T>A c.(3253-3255)gtT>gtA p.V1085V CR2_ENST00000367059.3_Silent_p.V964V|CR2_ENST00000367058.3_Silent_p.V1026V|CR2_ENST00000458541.2_Silent_p.V999V NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 1026 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TATATTCTGTTGATCCATACA 0.303000 54 57 0 0 0.139131 0 0 GBP5 115362 broad.mit.edu 37 1 89728006 89728006 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:89728006A>T ENST00000343435.5 - 11 2080 c.1544T>A c.(1543-1545)aTg>aAg p.M515K GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.M515K NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 515 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) CCTCTCCTGCATCATTTGCTC 0.463000 30 86 0 0 0.125774 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746577 77746577 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:77746577G>T ENST00000409088.3 - 3 832 c.418C>A c.(418-420)Ctc>Atc p.L140I LRRTM4_ENST00000409884.1_Missense_Mutation_p.L140I|LRRTM4_ENST00000409093.1_Missense_Mutation_p.L140I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.L141I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L141I NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 140 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TTGTAGGAGAGGTCCAGATTG 0.393000 17 48 4.63292e-17 5.93508e-17 0.049695 1 0 ALPI 248 broad.mit.edu 37 2 233321770 233321770 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:233321770G>T ENST00000295463.3 + 4 539 c.462G>T c.(460-462)cgG>cgT p.R154R NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 154 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGATGAACCGGGCCAAGCAAG 0.607000 14 30 1.56452e-12 1.88177e-12 0.043863 1 0 ZNF292 23036 broad.mit.edu 37 6 87968147 87968147 + Silent SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:87968147C>T ENST00000369577.3 + 8 4843 c.4800C>T c.(4798-4800)acC>acT p.T1600T ZNF292_ENST00000339907.4_Silent_p.T1595T NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AAAATTTTACCAGTAACAGTT 0.373000 15 17 0 0 0.043863 0 0 PALD1 27143 broad.mit.edu 37 10 72326469 72326469 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:72326469G>T ENST00000263563.6 + 20 2819 c.2551G>T c.(2551-2553)Gcc>Tcc p.A851S NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CGAGCCCTCTGCCCCCGAGGA 0.697000 3 11 0.00909568 0.00933277 0.009096 1 0 AEN 64782 broad.mit.edu 37 15 89169422 89169422 + Translation_Start_Site SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr15:89169422A>T ENST00000332810.3 + 0 133 AEN_ENST00000379231.3_De_novo_Start_OutOfFrame NM_022767.3 NP_073604.3 Q8WTP8 AEN_HUMAN apoptosis enhancing nuclease apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding NS(1)|kidney(1)|large_intestine(1)|lung(4) 7 CCCTTGCCCCAAGCAGTGAGC 0.607000 16 40 0 0 0.069288 0 0 TTN 7273 broad.mit.edu 37 2 179612927 179612927 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:179612927C>A ENST00000360870.5 - 46 14422 c.14200G>T c.(14200-14202)Gcc>Tcc p.A4734S TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 845 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAAGTAGGGCACATGATTCA 0.353000 9 51 0.0477658 0.0483238 0.047766 1 0 SPCS2 9789 broad.mit.edu 37 11 74680729 74680729 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:74680729C>T ENST00000263672.6 + 4 518 c.479C>T c.(478-480)tCc>tTc p.S160F SPCS2_ENST00000530257.1_Missense_Mutation_p.S91F|SPCS2_ENST00000526361.1_Missense_Mutation_p.S21F|SPCS2_ENST00000528265.1_Intron NM_014752.2 NP_055567.2 Q15005 SPCS2_HUMAN signal peptidase complex subunit 2 homolog (S. cerevisiae) 160 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity breast(1) 1 TGGCAGCTGTCCTCCAGTCTT 0.408000 66 114 0 0 0.139131 0 0 VAV3 10451 broad.mit.edu 37 1 108247681 108247681 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:108247681G>T ENST00000370056.4 - 16 1779 c.1505C>A c.(1504-1506)tCt>tAt p.S502Y VAV3_ENST00000527011.1_Missense_Mutation_p.S502Y|VAV3_ENST00000371846.4_Missense_Mutation_p.S437Y|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 502 PH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TCTTATGTTAGACCTAAAAAA 0.383000 10 17 0.000442599 0.000458482 0.058154 1 0 TBC1D9 23158 broad.mit.edu 37 4 141543632 141543632 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:141543632T>A ENST00000442267.2 - 21 3592 c.3518A>T c.(3517-3519)cAc>cTc p.H1173L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1173 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GTCCTCCTCGTGGGAGCCGGC 0.672000 14 52 0 0 0.038395 0 0 PTCHD2 57540 broad.mit.edu 37 1 11576056 11576056 + Splice_Site SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:11576056A>T ENST00000294484.6 + 6 1726 c.e6-1 PTCHD2_ENST00000389575.3_Splice_Site NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TCCCTCCCACAGGTGTGGACG 0.592000 24 26 0 0 0.108266 0 0 MTX2 10651 broad.mit.edu 37 2 177193608 177193608 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:177193608C>T ENST00000392529.2 + 8 760 c.355C>T c.(355-357)Ctt>Ttt p.L119F MTX2_ENST00000443241.1_Missense_Mutation_p.L73F|MTX2_ENST00000249442.6_Missense_Mutation_p.L129F O75431 MTX2_HUMAN metaxin 2 129 protein targeting to mitochondrion mitochondrial outer membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181) CTAGCTGTATCTTCAGTGGTG 0.333000 4 142 0 0 0.038147 0 0 LPO 4025 broad.mit.edu 37 17 56342295 56342295 + Silent SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:56342295C>T ENST00000262290.4 + 10 1795 c.1479C>T c.(1477-1479)ctC>ctT p.L493L LPO_ENST00000421678.2_Silent_p.L410L|LPO_ENST00000543544.1_Silent_p.L434L|LPO_ENST00000582328.1_Silent_p.L410L NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 493 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 AACTCCCCCTCCACACCCTCT 0.557000 33 63 0 0 0.098360 0 0 ROBO2 6092 broad.mit.edu 37 3 77666791 77666791 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:77666791C>A ENST00000461745.1 + 22 4321 c.3421C>A c.(3421-3423)Cct>Act p.P1141T ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1157T|ROBO2_ENST00000332191.8_Missense_Mutation_p.P1141T NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1141 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) GGCTTCTTCTCCTGCTATCTC 0.507000 14 76 0.000219431 0.000230058 0.119110 1 0 CSMD3 114788 broad.mit.edu 37 8 113678527 113678527 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:113678527G>C ENST00000297405.5 - 17 3039 c.2795C>G c.(2794-2796)tCt>tGt p.S932C CSMD3_ENST00000343508.3_Missense_Mutation_p.S892C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S828C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S932C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 932 CUB 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AATTTTGATAGAGTGTCCAGG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 47 0 0 0.080935 0 0 MME 4311 broad.mit.edu 37 3 154886336 154886336 + Silent SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:154886336A>T ENST00000460393.1 + 19 1956 c.1836A>T c.(1834-1836)gcA>gcT p.A612A MME_ENST00000462745.1_Silent_p.A612A|MME_ENST00000360490.2_Silent_p.A612A|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Silent_p.A612A|MME_ENST00000493237.1_Silent_p.A612A NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 612 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AACAGTCTGCAAGTAACTTTA 0.413000 18 67 0 0 0.043863 0 0 IGSF3 3321 broad.mit.edu 37 1 117156400 117156400 + Silent SNP G G A rs147777098 TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:117156400G>A ENST00000369486.3 - 4 1584 c.819C>T c.(817-819)aaC>aaT p.N273N IGSF3_ENST00000369483.1_Silent_p.N273N|IGSF3_ENST00000318837.6_Silent_p.N273N NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 273 integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TTGGCTGGACGTTGACCACGG 0.572000 18 49 0 0 0.049695 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102522033 102522033 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:102522033C>T ENST00000321521.9 + 27 3755 c.3182C>T c.(3181-3183)gCg>gTg p.A1061V PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.A1061V O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 1061 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCTCACTGTGCGGGCCTGTTT 0.488000 11 30 0 0 0.080935 0 0 F9 2158 broad.mit.edu 37 X 138633338 138633338 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chrX:138633338A>G ENST00000218099.2 + 6 645 c.638A>G c.(637-639)aAc>aGc p.N213S F9_ENST00000394090.2_Missense_Mutation_p.N175S NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 213 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) ATTTTGGATAACATCACTCAA 0.413000 56 25 0 0 0.139131 0 0 PEG3 5178 broad.mit.edu 37 19 57326479 57326479 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:57326479C>A ENST00000326441.9 - 10 3694 c.3331G>T c.(3331-3333)Gac>Tac p.D1111Y ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D985Y|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1111Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D987Y NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1111 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGGCCACAGTCCTCACATTCA 0.502000 52 50 5.82089e-37 8.93775e-37 0.139131 1 0 DOCK10 55619 broad.mit.edu 37 2 225672755 225672755 + Nonsense_Mutation SNP A A C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:225672755A>C ENST00000409592.3 - 32 3553 c.3440T>G c.(3439-3441)tTa>tGa p.L1147* DOCK10_ENST00000258390.7_Nonsense_Mutation_p.L1153* Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1153 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AATTCCGATTAAGAAGTGTTT 0.373000 12 26 0 0 0.105934 0 0 NIN 51199 broad.mit.edu 37 14 51243735 51243735 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:51243735C>A ENST00000245441.5 - 7 788 c.598G>T c.(598-600)Ggt>Tgt p.G200C NIN_ENST00000530997.2_Missense_Mutation_p.G200C|NIN_ENST00000453196.1_Missense_Mutation_p.G200C|NIN_ENST00000389868.3_Missense_Mutation_p.G200C|NIN_ENST00000382041.3_Missense_Mutation_p.G200C|NIN_ENST00000382043.4_Missense_Mutation_p.G200C|NIN_ENST00000324330.9_Missense_Mutation_p.G200C NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 200 EF-hand 3. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TTCAGGTGACCATCACGGGTG 0.463000 T PDGFRB MPD 33 46 3.21399e-22 4.41797e-22 0.074837 1 0 OTOP1 133060 broad.mit.edu 37 4 4199804 4199804 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:4199804T>A ENST00000296358.4 - 5 781 c.757A>T c.(757-759)Aac>Tac p.N253Y NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 253 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCGTGCAGTTACACTGCGGT 0.522000 33 44 0 0 0.111260 0 0 ZNF597 146434 broad.mit.edu 37 16 3493140 3493140 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:3493140G>T ENST00000301744.4 - 2 249 c.14C>A c.(13-15)cCc>cAc p.P5H LA16c-306E5.2_ENST00000575785.1_RNA NM_152457.1 NP_689670.1 Q96LX8 ZN597_HUMAN zinc finger protein 597 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 GGGCGTCGGGGGCATGGACGC 0.582000 26 64 9.78306e-22 1.32792e-21 0.144211 1 0 IPO9 55705 broad.mit.edu 37 1 201823951 201823951 + Splice_Site SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:201823951G>C ENST00000361565.4 + 8 880 c.810_splice c.e8-1 p.A271_splice NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 271 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 AACTTCTTAGGCAGTGACAGC 0.413000 15 104 0 0 0.132662 0 0 TMEM223 79064 broad.mit.edu 37 11 62559426 62559426 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:62559426G>A ENST00000307366.7 - 1 67 c.41C>T c.(40-42)gCc>gTc p.A14V TMEM223_ENST00000525631.1_Missense_Mutation_p.A14V NM_001080501.2 NP_001073970.1 A0PJW6 TM223_HUMAN transmembrane protein 223 14 integral to membrane CCGCAGCACGGCTAGCAGCCC 0.706000 4 8 0 0 0.021553 0 0 SUPT6H 6830 broad.mit.edu 37 17 27002105 27002105 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:27002105G>A ENST00000314616.6 + 5 746 c.463G>A c.(463-465)Ggg>Agg p.G155R SUPT6H_ENST00000347486.4_Missense_Mutation_p.G155R NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 155 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GGATGGGGAAGGGGAAGAAGG 0.512000 10 39 0 0 0.080935 0 0 CACNA1D 776 broad.mit.edu 37 3 53700466 53700466 + Silent SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:53700466G>C ENST00000288139.3 + 7 1138 c.1020G>C c.(1018-1020)ccG>ccC p.P340P CACNA1D_ENST00000350061.5_Silent_p.P340P|CACNA1D_ENST00000422281.2_Silent_p.P340P NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 340 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGGTTGGCCCGAACGGAGGCA 0.527000 59 221 0 0 0.139131 0 0 INTS8 55656 broad.mit.edu 37 8 95866092 95866092 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:95866092A>T ENST00000523731.1 + 14 1834 c.1701A>T c.(1699-1701)agA>agT p.R567S INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.R567S NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 567 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) ATTTAACAAGAGATTTGGTTT 0.328000 31 131 0 0 0.104719 0 0 PC 5091 broad.mit.edu 37 11 66619932 66619932 + Silent SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:66619932G>C ENST00000393960.1 - 15 2084 c.1803C>G c.(1801-1803)ctC>ctG p.L601L PC_ENST00000393958.2_Silent_p.L601L|PC_ENST00000393955.2_Silent_p.L601L NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 601 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CCATGCTGAAGAGCTTGCTGA 0.622000 4 69 0 0 0.021553 0 0 COL5A3 50509 broad.mit.edu 37 19 10089594 10089594 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:10089594G>T ENST00000264828.3 - 40 3022 c.2937C>A c.(2935-2937)ccC>ccA p.P979P NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 979 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CTTTGGGGCCGGGAAAGCCCC 0.627000 5 8 5.18039e-06 5.60777e-06 0.038147 1 0 HGD 3081 broad.mit.edu 37 3 120394669 120394669 + Silent SNP A A C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:120394669A>C ENST00000283871.5 - 2 516 c.57T>G c.(55-57)ccT>ccG p.P19P HGD_ENST00000488183.1_5'UTR NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 19 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) CTGGGCAGCGAGGATCCTCTG 0.443000 54 95 0 0 0.139131 0 0 TRIM58 25893 broad.mit.edu 37 1 248039589 248039589 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:248039589G>T ENST00000366481.3 + 6 1307 c.1259G>T c.(1258-1260)gGt>gTt p.G420V OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 420 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TATGAAGCCGGTGAAATTTCA 0.443000 96 305 2.01602e-52 3.2941e-52 0.139131 1 0 SFRP2 6423 broad.mit.edu 37 4 154702677 154702677 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:154702677A>G ENST00000274063.4 - 3 1098 c.814T>C c.(814-816)Tcg>Ccg p.S272P NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 272 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) CGCTTCACCGAGGTGATCACC 0.592000 34 69 0 0 0.098360 0 0 ACTC1 70 broad.mit.edu 37 15 35084464 35084464 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr15:35084464C>G ENST00000290378.4 - 5 1290 c.635G>C c.(634-636)cGt>cCt p.R212P RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 212 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) TTTAATGTCACGGACAATTTC 0.468000 24 19 0 0 0.116897 0 0 RYR2 6262 broad.mit.edu 37 1 237802341 237802341 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:237802341G>A ENST00000366574.2 + 46 7272 c.6955G>A c.(6955-6957)Gtc>Atc p.V2319I RYR2_ENST00000360064.6_Missense_Mutation_p.V2317I|RYR2_ENST00000542537.1_Missense_Mutation_p.V2303I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2319 4 X approximate repeats. 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) AAATGCAAATGTCGTGGTGAG 0.413000 10 65 0 0 0.080935 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110460467 110460467 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:110460467A>T ENST00000378402.5 + 39 5976 c.5872A>T c.(5872-5874)Acc>Tcc p.T1958S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1958 IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTGTAATGTAACCATGGCCAA 0.438000 HNSCC(38;0.096) 9 29 0 0 0.058154 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882690 228882690 + Silent SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:228882690A>G ENST00000392056.3 - 7 2926 c.2880T>C c.(2878-2880)tgT>tgC p.C960C SPHKAP_ENST00000344657.5_Silent_p.C960C NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 960 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTTTCCATGCACAAAACCAGG 0.517000 20 118 0 0 0.083992 0 0 ZBP1 81030 broad.mit.edu 37 20 56179675 56179675 + Missense_Mutation SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:56179675A>G ENST00000340462.4 - 7 1455 c.1175T>C c.(1174-1176)gTg>gCg p.V392A ZBP1_ENST00000395822.3_Missense_Mutation_p.V340A|ZBP1_ENST00000371173.3_Missense_Mutation_p.V415A Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 415 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GGCTTCATCCACATAGTGGCT 0.597000 53 96 0 0 0.139131 0 0 CELA2A 63036 broad.mit.edu 37 1 15793991 15793991 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:15793991C>A ENST00000359621.4 + 7 775 c.750C>A c.(748-750)tcC>tcA p.S250S CELA2B_ENST00000494280.1_3'UTR NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 250 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 ACAAGCCCTCCGTCTTCACGC 0.627000 35 52 4.67007e-22 6.37898e-22 0.104719 1 0 GPR98 84059 broad.mit.edu 37 5 90079698 90079698 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:90079698G>A ENST00000405460.2 + 67 13573 c.13477G>A c.(13477-13479)Gga>Aga p.G4493R GPR98_ENST00000425867.2_Missense_Mutation_p.G154R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4493 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGAGCTACTGGAGGAGCGGT 0.423000 9 19 0 0 0.069234 0 0 MYOF 26509 broad.mit.edu 37 10 95155909 95155909 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:95155909C>A ENST00000371501.4 - 16 1529 c.1407G>T c.(1405-1407)ggG>ggT p.G469G MYOF_ENST00000371502.4_Silent_p.G469G|MYOF_ENST00000359263.4_Silent_p.G469G|MYOF_ENST00000358334.5_Silent_p.G469G Q9NZM1 MYOF_HUMAN myoferlin 469 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTTCCACTTCCCCACCAGAGG 0.383000 23 88 6.84511e-11 8.09818e-11 0.059317 1 0 SUFU 51684 broad.mit.edu 37 10 104375134 104375134 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:104375134G>A ENST00000369902.3 + 9 1298 c.1132G>A c.(1132-1134)Gga>Aga p.G378R SUFU_ENST00000423559.2_Missense_Mutation_p.G378R|SUFU_ENST00000369899.2_Missense_Mutation_p.G378R NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 378 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding p.S377fs*7(1) breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) CCAGGAGTCCGGAGCCCTCAT 0.587000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 3 93 0 0 0.009096 0 0 LMX1A 4009 broad.mit.edu 37 1 165173266 165173266 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:165173266G>T ENST00000342310.3 - 9 1382 c.1000C>A c.(1000-1002)Ctt>Att p.L334I LMX1A_ENST00000367893.4_Missense_Mutation_p.L334I|LMX1A_ENST00000294816.2_Missense_Mutation_p.L334I|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 334 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) TCATGGAAAAGGGGCTCGGCA 0.498000 32 104 1.30998e-17 1.68816e-17 0.080422 1 0 DCT 1638 broad.mit.edu 37 13 95118871 95118871 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr13:95118871C>T ENST00000377028.5 - 3 1050 c.637G>A c.(637-639)Gga>Aga p.G213R DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.G213R NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 213 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) AATGCAGGTCCTTGATGTGAG 0.373000 3 64 0 0 0.009096 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229117 90229117 + RNA SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:90229117C>A ENST00000390278.2 + 0 73 CTCTGGCTCCCAGGTAAGGAA 0.527000 26 137 5.43694e-19 7.22145e-19 0.080422 1 0 TAS1R2 80834 broad.mit.edu 37 1 19167000 19167000 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:19167000C>T ENST00000375371.3 - 6 1634 c.1613G>A c.(1612-1614)tGc>tAc p.C538Y NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 538 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GTTATTCGGGCAGGCCTGGCA 0.587000 14 50 0 0 0.038395 0 0 CCNF 899 broad.mit.edu 37 16 2505547 2505547 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:2505547G>C ENST00000397066.4 + 16 1955 c.1867G>C c.(1867-1869)Ggc>Cgc p.G623R NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 623 PEST. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) GGAGAGTGAGGGCGAGAAGGA 0.667000 4 36 0 0 0.021553 0 0 SYTL2 54843 broad.mit.edu 37 11 85445059 85445059 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:85445059G>A ENST00000316356.4 - 7 1877 c.1313C>T c.(1312-1314)tCa>tTa p.S438L SYTL2_ENST00000524452.1_Missense_Mutation_p.S437L|SYTL2_ENST00000528231.1_Missense_Mutation_p.S437L|SYTL2_ENST00000527523.1_Missense_Mutation_p.S389L|SYTL2_ENST00000389960.4_Missense_Mutation_p.S437L Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 437 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GATGGTTGGTGAATTCTCCAT 0.398000 34 116 0 0 0.074837 0 0 ERC2 26059 broad.mit.edu 37 3 56468916 56468916 + Silent SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr3:56468916T>A ENST00000288221.6 - 2 375 c.120A>T c.(118-120)acA>acT p.T40T NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 40 Poly-Gly. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GAGTCTTGCCTGTTCCTCCAC 0.522000 39 69 0 0 0.139131 0 0 LTBP1 4052 broad.mit.edu 37 2 33246003 33246003 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:33246003G>T ENST00000404816.2 + 3 946 c.593G>T c.(592-594)gGa>gTa p.G198V LTBP1_ENST00000354476.3_Missense_Mutation_p.G198V Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 198 EGF-like 1. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGTCAGAATGGAGGGATGTGT 0.478000 76 395 4.00701e-44 6.40235e-44 0.139131 1 0 C1orf116 79098 broad.mit.edu 37 1 207200869 207200869 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:207200869C>A ENST00000359470.5 - 2 324 c.75G>T c.(73-75)atG>atT p.M25I C1orf116_ENST00000461135.2_Intron NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 25 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) TGCTGCTCATCATGCTGTCAC 0.632000 36 212 3.86236e-30 5.70786e-30 0.139131 1 0 ZFPM2 23414 broad.mit.edu 37 8 106814645 106814645 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:106814645G>A ENST00000407775.2 + 8 2585 c.2335G>A c.(2335-2337)Ggg>Agg p.G779R RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G647R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G647R|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G510R|RP11-152P17.2_ENST00000518932.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 779 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACCCACAGAAGGGCTAGGAGA 0.468000 7 31 0 0 0.047766 0 0 AURKC 6795 broad.mit.edu 37 19 57743543 57743543 + Nonsense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:57743543G>T ENST00000302804.7 + 3 433 c.247G>T c.(247-249)Gga>Tga p.G83* AURKC_ENST00000448930.1_Nonsense_Mutation_p.G49*|AURKC_ENST00000415300.2_Nonsense_Mutation_p.G64*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.G80*|AURKC_ENST00000598785.1_Nonsense_Mutation_p.G49* NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 83 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) AGAGAAGGAAGGACTGGAGCA 0.517000 12 45 4.7546e-09 5.44641e-09 0.146539 1 0 MUC16 94025 broad.mit.edu 37 19 9061110 9061110 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:9061110G>A ENST00000397910.4 - 3 26539 c.26336C>T c.(26335-26337)aCg>aTg p.T8779M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8781 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATCCTGTCGTGGTGAGGGG 0.507000 7 129 0 0 0.038147 0 0 DNMT3A 1788 broad.mit.edu 37 2 25470920 25470920 + Nonsense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:25470920C>A ENST00000264709.3 - 7 1178 c.841G>T c.(841-843)Gag>Tag p.E281* DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.E58*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E281*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.E92* NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 281 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.E281K(1)|p.E92K(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACTCTGGCTCGTCATCGCCT 0.652000 """Mis, F, N, S""" AML 42 46 1.86277e-20 2.50491e-20 0.139131 1 0 FOLH1B 219595 broad.mit.edu 37 11 89395333 89395333 + RNA SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:89395333A>G ENST00000532352.1 + 0 731 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCTTATAGGCATGGAATTGCA 0.348000 3 48 0 0 0.009096 0 0 CHRM2 1129 broad.mit.edu 37 7 136700946 136700946 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:136700946C>A ENST00000445907.2 + 3 1862 c.1334C>A c.(1333-1335)gCc>gAc p.A445D AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A445D|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A445D|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A445D|CHRM2_ENST00000402486.3_Missense_Mutation_p.A445D|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A445D|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 445 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.A445G(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CTTTGCAATGCCACCTTCAAG 0.423000 54 93 4.09106e-26 5.77013e-26 0.139131 1 0 LPA 4018 broad.mit.edu 37 6 160977164 160977164 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:160977164C>G ENST00000447678.1 - 31 4986 c.4866G>C c.(4864-4866)caG>caC p.Q1622H LPA_ENST00000316300.5_Missense_Mutation_p.Q1622H NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4130 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.Q1622H(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CTCGATAACTCTGGCCATTAC 0.488000 43 150 0 0 0.139131 0 0 MDGA2 161357 broad.mit.edu 37 14 47389216 47389216 + Splice_Site SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:47389216T>A ENST00000426342.1 - 10 2089 c.1344_splice c.e10+1 p.Q448_splice MDGA2_ENST00000439988.2_Splice_Site_p.Q677_splice|MDGA2_ENST00000357362.3_Splice_Site_p.Q448_splice|MDGA2_ENST00000399232.2_Splice_Site_p.Q746_splice NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 677 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ATTTCTCACCTGCCTGATGCC 0.408000 18 35 0 0 0.091800 0 0 NRXN1 9378 broad.mit.edu 37 2 51254824 51254824 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:51254824G>T ENST00000404971.1 - 2 1927 c.588C>A c.(586-588)ccC>ccA p.P196P NRXN1_ENST00000405472.3_Silent_p.P196P|NRXN1_ENST00000406859.3_Silent_p.P196P|NRXN1_ENST00000405581.1_Silent_p.P196P|NRXN1_ENST00000402717.3_Silent_p.P196P|NRXN1_ENST00000401669.2_Silent_p.P196P|NRXN1_ENST00000406316.2_Silent_p.P196P NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 196 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CGCTGTCCACGGGCAGGACCT 0.716000 5 13 2.0095e-06 2.21403e-06 0.029380 1 0 DENND3 22898 broad.mit.edu 37 8 142154284 142154284 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:142154284G>T ENST00000519811.1 + 5 731 c.661G>T c.(661-663)Gtg>Ttg p.V221L DENND3_ENST00000424248.1_Missense_Mutation_p.V141L|DENND3_ENST00000262585.2_Missense_Mutation_p.V141L A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 141 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AGATTTTGAAGTGGACAGTCA 0.393000 32 46 1.59361e-14 1.9659e-14 0.092188 1 0 PCDHB3 56132 broad.mit.edu 37 5 140480313 140480313 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:140480313G>T ENST00000231130.2 + 1 80 c.80G>T c.(79-81)gGg>gTg p.G27V AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 27 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTCTGGCTGGGTCCGAGTCA 0.502000 24 48 1.77063e-15 2.21585e-15 0.108266 1 0 PER1 5187 broad.mit.edu 37 17 8046768 8046768 + Missense_Mutation SNP G G T rs143964144 byFrequency TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:8046768G>T ENST00000317276.4 - 19 3125 c.2888C>A c.(2887-2889)cCg>cAg p.P963Q PER1_ENST00000581082.1_Missense_Mutation_p.P940Q|PER1_ENST00000578089.1_5'UTR NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 963 Pro-rich. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 AGGAGGACTCGGGGCGAGGGC 0.642000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 5 15 2.23348e-06 2.44217e-06 0.146539 1 0 OR4X2 119764 broad.mit.edu 37 11 48266801 48266801 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:48266801C>T ENST00000302329.3 + 1 194 c.146C>T c.(145-147)tCc>tTc p.S49F NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 AGCCTTGGTTCCCCCATGTAC 0.488000 25 89 0 0 0.045705 0 0 E2F3 1871 broad.mit.edu 37 6 20402610 20402610 + Silent SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:20402610C>T ENST00000346618.3 + 1 213 c.147C>T c.(145-147)gcC>gcT p.A49A NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 49 Poly-Ala. G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) ccgccgccgccgctgccgccg 0.741000 3 53 0 0 0.009096 0 0 C5orf42 65250 broad.mit.edu 37 5 37186460 37186460 + Nonsense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:37186460C>A ENST00000274258.7 - 24 4347 c.760G>T c.(760-762)Gag>Tag p.E254* C5orf42_ENST00000425232.2_Nonsense_Mutation_p.E1373*|C5orf42_ENST00000508244.1_Nonsense_Mutation_p.E1373* E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1373 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CTCACGTCCTCAGGATAGGGA 0.353000 56 111 2.73218e-42 4.33346e-42 0.139131 1 0 OR4C11 219429 broad.mit.edu 37 11 55371074 55371074 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:55371074G>T ENST00000302231.4 - 1 800 c.776C>A c.(775-777)cCc>cAc p.P259H NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 AGTGGTCGGGGGGCGTGTATA 0.448000 26 80 2.09667e-21 2.83705e-21 0.064281 1 0 POLR2A 5430 broad.mit.edu 37 17 7400798 7400798 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:7400798G>T ENST00000322644.6 + 6 1342 c.943G>T c.(943-945)Gcc>Tcc p.A315S POLR2A_ENST00000572844.1_Missense_Mutation_p.A315S NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 315 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GTTCCATGTGGCCACCATGGT 0.592000 23 39 1.50538e-07 1.71084e-07 0.116897 1 0 CUX2 23316 broad.mit.edu 37 12 111785834 111785834 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr12:111785834G>A ENST00000261726.6 + 22 4320 c.4166G>A c.(4165-4167)tGc>tAc p.C1389Y NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1389 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TCCTCACGCTGCAGCCTGGAG 0.607000 28 99 0 0 0.144211 0 0 ZNF835 90485 broad.mit.edu 37 19 57175831 57175831 + Missense_Mutation SNP C C T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:57175831C>T ENST00000537055.2 - 2 967 c.736G>A c.(736-738)Ggt>Agt p.G246S NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GGCTTCTCACCGGTGTGGATG 0.692000 7 33 0 0 0.058154 0 0 VCAN 1462 broad.mit.edu 37 5 82843811 82843811 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:82843811A>T ENST00000265077.3 + 10 9966 c.9401A>T c.(9400-9402)aAt>aTt p.N3134I VCAN_ENST00000502527.2_Missense_Mutation_p.N393I|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.N1332I|VCAN_ENST00000343200.5_Missense_Mutation_p.N2147I|VCAN_ENST00000342785.4_Missense_Mutation_p.N1380I NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3134 EGF-like 2; calcium-binding (Potential). 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) TGTCACTCTAATCCCTGTCGT 0.378000 41 77 0 0 0.139131 0 0 GLS 2744 broad.mit.edu 37 2 191792176 191792176 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:191792176A>T ENST00000320717.3 + 12 1651 c.1393A>T c.(1393-1395)Atg>Ttg p.M465L GLS_ENST00000409626.1_Missense_Mutation_p.M36L|GLS_ENST00000338435.4_Missense_Mutation_p.M465L NM_014905.4 NP_055720.3 O94925 GLSK_HUMAN glutaminase 465 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTCCTGTGGCATGTATGACTT 0.403000 17 136 0 0 0.116897 0 0 SLX4IP 128710 broad.mit.edu 37 20 10603598 10603598 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:10603598G>A ENST00000334534.5 + 8 978 c.798G>A c.(796-798)ggG>ggA p.G266G NM_001009608.1 NP_001009608.1 SLX4 interacting protein TAAAGACAGGGCTTCTAAGCA 0.517000 4 141 0 0 0.021553 0 0 SEMA4B 10509 broad.mit.edu 37 15 90771187 90771187 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr15:90771187T>C ENST00000411539.2 + 14 2086 c.1826T>C c.(1825-1827)tTg>tCg p.L609S SEMA4B_ENST00000379122.3_Missense_Mutation_p.L604S|SEMA4B_ENST00000332496.6_Missense_Mutation_p.L609S NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) GTGAACACTTTGGCCTGCCCG 0.637000 20 51 0 0 0.055883 0 0 RPS3 6188 broad.mit.edu 37 11 75115247 75115247 + Silent SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:75115247A>G ENST00000531188.1 + 5 596 c.534A>G c.(532-534)agA>agG p.R178R RPS3_ENST00000278572.6_Silent_p.R194R|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000526608.1_Silent_p.R166R|RPS3_ENST00000527446.1_Silent_p.R178R|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000524851.1_Silent_p.R178R NM_001005.4|NM_001260506.1|NM_001260507.1 NP_000996.2|NP_001247435.1|NP_001247436.1 P23396 RS3_HUMAN ribosomal protein S3 178 activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus|ruffle membrane damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 TGTTGCTCAGACAGGGTGAGC 0.488000 29 20 0 0 0.054565 0 0 TRPS1 7227 broad.mit.edu 37 8 116427156 116427156 + Nonsense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:116427156C>A ENST00000395715.3 - 7 3557 c.2980G>T c.(2980-2982)Gag>Tag p.E994* TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E985*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.E981*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E735* NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 981 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GACCTCCTCTCTAACGGGCTT 0.493000 Langer-Giedion syndrome 78 115 7.30829e-53 1.19867e-52 0.139131 1 0 VWA3A 146177 broad.mit.edu 37 16 22152971 22152971 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:22152971A>T ENST00000389398.5 + 24 2548 c.2452A>T c.(2452-2454)Aca>Tca p.T818S VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 818 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) GGAAGCAGAGACATCTCTTTT 0.532000 11 3 0 0 0.093190 0 0 CSMD3 114788 broad.mit.edu 37 8 113662416 113662416 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:113662416C>A ENST00000297405.5 - 19 3411 c.3167G>T c.(3166-3168)tGg>tTg p.W1056L CSMD3_ENST00000343508.3_Missense_Mutation_p.W1016L|CSMD3_ENST00000455883.2_Missense_Mutation_p.W952L|CSMD3_ENST00000352409.3_Missense_Mutation_p.W1056L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1056 Sushi 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGATGACTCCACCAGTGGTT 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 65 4.6707e-30 6.87895e-30 0.139131 1 0 OR51S1 119692 broad.mit.edu 37 11 4870065 4870065 + Missense_Mutation SNP G G C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:4870065G>C ENST00000322101.2 - 1 449 c.374C>G c.(373-375)gCc>gGc p.A125G MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AATGGACATGGCGAGCAAGAC 0.522000 27 99 0 0 0.144211 0 0 OR2M5 127059 broad.mit.edu 37 1 248308957 248308957 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:248308957G>T ENST00000366476.1 + 1 508 c.508G>T c.(508-510)Ggg>Tgg p.G170W NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CTCCTACTGTGGGTCTCGGGA 0.448000 17 604 4.87955e-14 5.9854e-14 0.108266 1 0 TLK1 9874 broad.mit.edu 37 2 171871449 171871449 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:171871449C>G ENST00000442919.2 - 13 1717 c.1102G>C c.(1102-1104)Gaa>Caa p.E368Q TLK1_ENST00000360843.3_Missense_Mutation_p.E437Q|TLK1_ENST00000431350.2_Missense_Mutation_p.E416Q|TLK1_ENST00000521943.1_Missense_Mutation_p.E368Q|TLK1_ENST00000434911.2_Missense_Mutation_p.E320Q NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 416 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 GCCTGGATTTCTGCCTCTTCC 0.338000 20 136 0 0 0.099896 0 0 CNGB3 54714 broad.mit.edu 37 8 87755762 87755762 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr8:87755762G>T ENST00000320005.5 - 1 141 c.94C>A c.(94-96)Cac>Aac p.H32N CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 32 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TTACTTGGGTGAGAGCCTTCT 0.398000 35 73 1.96642e-18 2.58802e-18 0.092188 1 0 NCOA3 8202 broad.mit.edu 37 20 46275823 46275823 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:46275823G>T ENST00000372004.3 + 18 3475 c.3259G>T c.(3259-3261)Gca>Tca p.A1087S NCOA3_ENST00000371998.3_Missense_Mutation_p.A1087S|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1017S|NCOA3_ENST00000371997.3_Missense_Mutation_p.A1082S NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1087 Interaction with CREBBP. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TAAGGGACAGGCATTAGAGCC 0.428000 29 64 4.3949e-29 6.38588e-29 0.069456 1 0 PADI2 11240 broad.mit.edu 37 1 17395648 17395648 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:17395648G>T ENST00000375486.4 - 16 1952 c.1889C>A c.(1888-1890)aCc>aAc p.T630N PADI2_ENST00000444885.2_Missense_Mutation_p.T514N|PADI2_ENST00000466151.1_5'UTR NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 630 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) GTCGATGAAGGTGCATTCGAG 0.597000 57 74 7.91278e-47 1.27369e-46 0.139131 1 0 TRAV19 28664 broad.mit.edu 37 14 22476386 22476386 + RNA SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:22476386G>T ENST00000390447.3 + 0 433 ACAAGTCGTGGACTCAGCAGT 0.498000 5 10 0.0293803 0.0297932 0.029380 1 0 P2RX6 9127 broad.mit.edu 37 22 21377449 21377449 + Silent SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr22:21377449C>A ENST00000413302.2 + 6 748 c.600C>A c.(598-600)atC>atA p.I200I P2RX6_ENST00000336296.2_Silent_p.I190I|P2RX6_ENST00000401443.1_Silent_p.I174I|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.I147I O15547 P2RX6_HUMAN purinergic receptor P2X, ligand-gated ion channel, 6 200 muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity CACTGTTCATCAAAAACACAG 0.577000 38 31 2.68985e-26 3.80623e-26 0.139131 1 0 TDRD1 56165 broad.mit.edu 37 10 115963326 115963326 + Splice_Site SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:115963326G>A ENST00000251864.2 + 8 1134 c.981_splice c.e8+1 p.Q327_splice TDRD1_ENST00000369281.2_Splice_Site_p.Q327_splice|TDRD1_ENST00000369282.1_Splice_Site_p.Q327_splice|TDRD1_ENST00000369280.1_Splice_Site_p.Q327_splice|TDRD1_ENST00000422662.1_Splice_Site_p.Q36_splice NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 327 Tudor 1. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CTGTTGATCAGGTAACCTGTA 0.363000 14 40 0 0 0.043863 0 0 ZBTB46 140685 broad.mit.edu 37 20 62407201 62407201 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:62407201G>T ENST00000245663.4 - 3 1202 c.1052C>A c.(1051-1053)cCt>cAt p.P351H ZBTB46_ENST00000302995.2_Missense_Mutation_p.P351H|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P351H NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GGTGAGGGGAGGGCCCAGATA 0.657000 19 46 2.48779e-11 2.97573e-11 0.108266 1 0 CR2 1380 broad.mit.edu 37 1 207658874 207658874 + Missense_Mutation SNP T T A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:207658874T>A ENST00000367057.3 + 19 3443 c.3254T>A c.(3253-3255)gTt>gAt p.V1085D CR2_ENST00000367059.3_Missense_Mutation_p.V964D|CR2_ENST00000367058.3_Missense_Mutation_p.V1026D|CR2_ENST00000458541.2_Missense_Mutation_p.V999D NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 1026 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GTATATTCTGTTGATCCATAC 0.303000 54 58 0 0 0.139131 0 0 MMAA 166785 broad.mit.edu 37 4 146567138 146567138 + Splice_Site SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr4:146567138G>A ENST00000281317.5 + 4 1773 c.562_splice c.e4-1 p.G188_splice RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 188 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TATGTTTTAGGATCACTCTTA 0.393000 30 33 0 0 0.064281 0 0 RBM44 375316 broad.mit.edu 37 2 238726829 238726829 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:238726829G>T ENST00000316997.4 + 3 1402 c.1270G>T c.(1270-1272)Gca>Tca p.A424S RBM44_ENST00000409864.1_Missense_Mutation_p.A424S|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 423 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AGATAATCAGGCAATAGAAGA 0.373000 3 30 0.115264 0.115799 0.115264 1 0 VWCE 220001 broad.mit.edu 37 11 61039228 61039228 + Silent SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:61039228G>A ENST00000335613.5 - 14 2090 c.1704C>T c.(1702-1704)tgC>tgT p.C568C VWCE_ENST00000535710.1_Silent_p.C33C NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 568 VWFC 4. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CGTCAAGAGAGCAGCCTGGAT 0.532000 6 20 0 0 0.029380 0 0 MORC4 79710 broad.mit.edu 37 X 106185873 106185873 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chrX:106185873T>C ENST00000355610.4 - 15 2522 c.2248A>G c.(2248-2250)Aga>Gga p.R750G MORC4_ENST00000535534.1_Missense_Mutation_p.R498G|MORC4_ENST00000255495.7_Missense_Mutation_p.R750G NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 750 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 TCATAGCCTCTTGCTTTCTCC 0.478000 83 26 0 0 0.139131 0 0 ITGA1 3672 broad.mit.edu 37 5 52183682 52183682 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:52183682G>T ENST00000282588.6 + 8 1267 c.809G>T c.(808-810)aGa>aTa p.R270I NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 270 VWFA. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GGTGCCCGAAGAGGAGTTAAA 0.398000 25 58 1.88708e-17 2.42465e-17 0.134883 1 0 KIF1A 547 broad.mit.edu 37 2 241727525 241727525 + Silent SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:241727525G>T ENST00000498729.2 - 4 552 c.306C>A c.(304-306)ggC>ggA p.G102G KIF1A_ENST00000320389.7_Silent_p.G102G NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 102 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TGTAGGACTTGCCGGCACCCG 0.642000 5 24 1.23904e-05 1.3247e-05 0.014758 1 0 CNTNAP1 8506 broad.mit.edu 37 17 40836126 40836126 + Missense_Mutation SNP G G A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:40836126G>A ENST00000264638.4 + 3 459 c.242G>A c.(241-243)cGg>cAg p.R81Q CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 81 F5/8 type C. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) AAGAAGCACCGGATCCGGGCC 0.557000 56 246 0 0 0.139131 0 0 CPED1 79974 broad.mit.edu 37 7 120740123 120740123 + Missense_Mutation SNP C C G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:120740123C>G ENST00000310396.5 + 7 1360 c.893C>G c.(892-894)cCa>cGa p.P298R CPED1_ENST00000423795.1_Missense_Mutation_p.P78R|CPED1_ENST00000450913.2_Missense_Mutation_p.P298R NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TGGAATCCACCAAAGAAAAAA 0.433000 8 13 0 0 0.080935 0 0 PRSS1 5644 broad.mit.edu 37 7 142460308 142460308 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:142460308C>A ENST00000486171.1 + 5 540 c.523C>A c.(523-525)Ctg>Atg p.L175M PRSS1_ENST00000311737.7_Missense_Mutation_p.L161M P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 161 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GCTGCAGTGCCTGGATGCTCC 0.522000 115 349 2.6563e-64 4.38999e-64 0.139131 1 0 CRB1 23418 broad.mit.edu 37 1 197404541 197404542 + Frame_Shift_Ins INS - - A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr1:197404541_197404542insA ENST00000367397.1 + 5 2549_2550 c.1691_1692insA c.(1690-1692)taafs p.*564fs CRB1_ENST00000544212.1_Frame_Shift_Ins_p.*664fs|CRB1_ENST00000367400.3_Frame_Shift_Ins_p.*1183fs|CRB1_ENST00000535699.1_Frame_Shift_Ins_p.*1159fs|CRB1_ENST00000367399.2_Frame_Shift_Ins_p.*1071fs|CRB1_ENST00000538660.1_Intron P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1183 Laminin G-like 1. 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 GAATGCTTTTCAAACCCCTGTA 0.470 62 35 --- --- --- --- SFTPB 6439 broad.mit.edu 37 2 85893768 85893769 + Frame_Shift_Ins INS - - G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:85893768_85893769insG ENST00000393822.3 - 5 499_500 c.400_401insC c.(400-402)ggtfs p.G134fs SFTPB_ENST00000519937.2_Frame_Shift_Ins_p.G122fs|SFTPB_ENST00000409383.1_Frame_Shift_Ins_p.G134fs|SFTPB_ENST00000342375.3_Frame_Shift_Ins_p.G122fs P07988 PSPB_HUMAN surfactant protein B 122 Saposin B-type 1. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 GTCGATGACCAGGGGGAAGTAG 0.614 47 164 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141027833 141027834 + Frame_Shift_Ins INS - - G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:141027833_141027834insG ENST00000389484.3 - 86 14195_14196 c.13224_13225insC c.(13222-13227)ccagacfs p.D4409fs NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4409 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACATTTGTCTCGGGGTCCAGCT 0.411 TSP Lung(27;0.18) 49 143 --- --- --- --- HOXD3 3232 broad.mit.edu 37 2 177034068 177034069 + Frame_Shift_Ins INS - - T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr2:177034068_177034069insT ENST00000468418.3 + 3 2316_2317 c.226_227insT c.(226-228)gagfs p.E76fs HOXD3_ENST00000249440.3_Frame_Shift_Ins_p.E76fs|HOXD3_ENST00000410016.1_Frame_Shift_Ins_p.E76fs P31249 HXD3_HUMAN homeobox D3 76 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) CTCTGCCCCTCTGAGAGCCCCA 0.658 30 109 --- --- --- --- TENM2 57451 broad.mit.edu 37 5 167517633 167517633 + Frame_Shift_Del DEL C C - TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr5:167517633delC ENST00000519204.1 + 7 1325 c.1207delC c.(1207-1209)ccfs p.P403fs TENM2_ENST00000403607.2_Frame_Shift_Del_p.P357fs|TENM2_ENST00000518659.1_Frame_Shift_Del_p.P524fs|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Frame_Shift_Del_p.P524fs|TENM2_ENST00000520394.1_Frame_Shift_Del_p.P292fs teneurin transmembrane protein 2 GGTTGAGTCTCCCAGGGAACG 0.527 55 195 --- --- --- --- HLA-C 3107 broad.mit.edu 37 6 31238092 31238092 + Frame_Shift_Del DEL T T - TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr6:31238092delT ENST00000383329.3 - 4 804 c.790delA c.(790-792)ccfs p.T264fs HLA-C_ENST00000376228.5_Frame_Shift_Del_p.T264fs Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 264 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 TTCTGGAAGGTTCCATCTCCT 0.617 27 100 --- --- --- --- ZNF804B 219578 broad.mit.edu 37 7 88964303 88964304 + Frame_Shift_Ins INS - - G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr7:88964303_88964304insG ENST00000333190.4 + 4 2616_2617 c.2007_2008insG c.(2005-2010)caggaafs p.E670fs NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 670 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACAGTGACCATGGGAAAGACTT 0.431 HNSCC(36;0.09) 24 104 --- --- --- --- GAD2 2572 broad.mit.edu 37 10 26589876 26589876 + Frame_Shift_Del DEL G G - TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:26589876delG ENST00000376261.3 + 16 2247 c.1744delG c.(1744-1746)gafs p.G582fs GAD2_ENST00000259271.3_Frame_Shift_Del_p.G582fs NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 582 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) AGAACGCCTTGGACAAGATTT 0.418 33 81 --- --- --- --- LIPF 8513 broad.mit.edu 37 10 90427050 90427050 + Frame_Shift_Del DEL C C - TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr10:90427050delC ENST00000394375.3 + 3 139 c.26delC c.(25-27)tcfs p.S9fs LIPF_ENST00000355843.2_5'UTR|LIPF_ENST00000238983.4_5'UTR NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 0 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TCAGGCAGGTCCAAAATGTGG 0.383 17 39 --- --- --- --- OR4D9 390199 broad.mit.edu 37 11 59282573 59282574 + Frame_Shift_Ins INS - - C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr11:59282573_59282574insC ENST00000329328.3 + 1 188_189 c.188_189insC c.(187-189)ccgfs p.P63fs NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 TACTTCCTGCTCCGCAACCTGT 0.441 159 218 --- --- --- --- BMS1P17 101101776 broad.mit.edu 37 14 19671610 19671611 + RNA INS - - A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr14:19671610_19671611insA ENST00000418499.3 + 0 711 AL589743.2_ENST00000550512.1_lincRNA ATGGGTATAGCAAGATAAAAAT 0.366 14 62 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 81737 81737 + RNA DEL G G - TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:81737delG ENST00000568710.1 - 0 434 CCAACATCTTGGGCAGGCCAG 0.527 16 86 --- --- --- --- PRKCB 5579 broad.mit.edu 37 16 24135178 24135178 + Frame_Shift_Del DEL C C - TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:24135178delC ENST00000303531.7 + 9 1093 c.941delC c.(940-942)acfs p.T314fs PRKCB_ENST00000321728.7_Frame_Shift_Del_p.T314fs NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 314 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AGTCAGGGAACCAAGGTCCCG 0.478 13 35 --- --- --- --- N4BP1 9683 broad.mit.edu 37 16 48596175 48596176 + Frame_Shift_Ins INS - - A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr16:48596175_48596176insA ENST00000262384.3 - 2 614_615 c.378_379insT c.(376-381)gctggtfs p.G127fs RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 127 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) GCCATGACCACAGCCTCAGCAC 0.446 17 35 --- --- --- --- DUSP3 1845 broad.mit.edu 37 17 41847180 41847180 + Frame_Shift_Del DEL G G - rs138129767 TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:41847180delG ENST00000226004.3 - 3 418 c.355delC c.(355-357)ggfs p.R119fs DUSP3_ENST00000397937.2_Frame_Shift_Del_p.R78fs NM_004090.3 NP_004081.1 P51452 DUS3_HUMAN dual specificity phosphatase 3 119 Tyrosine-protein phosphatase. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|immunological synapse|nucleoplasm MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 7 Breast(137;0.00725) BRCA - Breast invasive adenocarcinoma(366;0.116) ACGAGCACCCGGCCTGTAAGA 0.572 17 65 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 7 333 --- --- --- --- SMCHD1 23347 broad.mit.edu 37 18 2666232 2666233 + Splice_Site INS - - T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr18:2666232_2666233insT ENST00000320876.6 + 2 600 c.e2+1 SMCHD1_ENST00000261598.8_Splice_Site NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GATAATTTTGGTAGGTAAACAG 0.267 7 11 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 3 6 --- --- --- --- LAMA5 3911 broad.mit.edu 37 20 60887005 60887016 + In_Frame_Del DEL ATGGGGGGCACC ATGGGGGGCACC - TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chr20:60887005_60887016delATGGGGGGCACC ENST00000252999.3 - 70 9661_9672 c.9595_9606delGGTGCCCCCCAT c.(9595-9606)del p.GAPH3199del NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3199 Laminin G-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGCGACGTAATGGGGGGCACCATCGGCGAAG 0.646 14 177 --- --- --- --- KDM5C 8242 broad.mit.edu 37 X 53231100 53231101 + Frame_Shift_Ins INS - - A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5946020c-0d48-4e58-8208-70311a6e3cdf e8cf99cf-0300-498f-aa61-1573bb895846 g.chrX:53231100_53231101insA ENST00000452825.3 - 11 2132_2133 c.1600_1601insT c.(1600-1602)ccafs p.P534fs KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.P601fs|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.P560fs|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375401.3_Frame_Shift_Ins_p.P601fs|KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.P600fs NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 601 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent 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 autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 GCCGCTGTGGTAAGCACGGGGG 0.520 """N, F, S""" clear cell renal carcinoma 47 26 --- --- --- ---