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 REC8 9985 broad.mit.edu 37 14 24649108 24649108 + Silent SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:24649108C>A ENST00000311457.3 + 19 2150 c.1551C>A c.(1549-1551)ctC>ctA p.L517L REC8_ENST00000559919.1_Silent_p.L517L|REC8_ENST00000559939.1_3'UTR O95072 REC8_HUMAN REC8 meiotic recombination protein 518 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) TCTACCTGCTCCTGGGTGAGT 0.637000 20 28 2.4624e-09 5.1318e-09 0.001216 1 0 IL36B 27177 broad.mit.edu 37 2 113785660 113785660 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:113785660C>T ENST00000327407.2 - 5 401 c.294G>A c.(292-294)aaG>aaA p.K98K IL36B_ENST00000259213.4_Intron NM_173178.1 NP_775270.1 Q9NZH7 IL36B_HUMAN interleukin 36, beta 0 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 TCTGTGCTTTCTTCTCCACAT 0.463000 17 15 0 0 0.000958 0 0 KEL 3792 broad.mit.edu 37 7 142651377 142651377 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:142651377G>A ENST00000355265.2 - 8 1292 c.818C>T c.(817-819)tCc>tTc p.S273F KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 273 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GATTGACAAGGAAGAGTGTTC 0.542000 24 48 0 0 0.002780 0 0 BCL9 607 broad.mit.edu 37 1 147091084 147091084 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:147091084C>T ENST00000234739.3 + 8 1863 c.1123C>T c.(1123-1125)Cct>Tct p.P375S NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 375 CTNNB1-binding.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding p.P375S(1) breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CATGCTTTTTCCTGATGAGAA 0.537000 T """IGH@, IGL@""" B-ALL 44 105 0 0 0.003610 0 0 AHDC1 27245 broad.mit.edu 37 1 27876003 27876003 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:27876003G>A ENST00000374011.2 - 6 3592 c.2624C>T c.(2623-2625)cCc>cTc p.P875L AHDC1_ENST00000247087.5_Missense_Mutation_p.P875L|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 875 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GGCACTGGTGGGTGGCCCTGC 0.687000 22 16 0 0 0.002299 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41744140 41744140 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:41744140C>T ENST00000352645.4 + 15 1992 c.1735C>T c.(1735-1737)Ctg>Ttg p.L579L ZC3H7B_ENST00000351589.4_Silent_p.L579L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 595 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTGCTCCAACCTGGCTGCCAA 0.602000 37 80 0 0 0.001287 0 0 LPHN3 23284 broad.mit.edu 37 4 62598791 62598791 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:62598791G>A ENST00000512091.1 + 7 1461 c.714G>A c.(712-714)aaG>aaA p.K238K LPHN3_ENST00000508946.1_Silent_p.K238K|LPHN3_ENST00000514157.1_Silent_p.K238K|LPHN3_ENST00000511324.1_Silent_p.K306K|LPHN3_ENST00000506746.1_Silent_p.K306K|LPHN3_ENST00000507164.1_Silent_p.K306K|LPHN3_ENST00000509896.1_Silent_p.K306K|LPHN3_ENST00000514996.1_Silent_p.K238K|LPHN3_ENST00000507625.1_Silent_p.K306K|LPHN3_ENST00000514591.1_Silent_p.K238K|LPHN3_ENST00000504896.1_Silent_p.K238K|LPHN3_ENST00000545650.1_Silent_p.K238K|LPHN3_ENST00000508693.1_Silent_p.K306K|LPHN3_ENST00000506700.1_Silent_p.K238K|LPHN3_ENST00000506720.1_Silent_p.K306K Q9HAR2 LPHN3_HUMAN latrophilin 3 238 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CTAGGATAAAGAGTGGAGAGG 0.463000 6 5 0 0 0.001168 0 0 LHCGR 3973 broad.mit.edu 37 2 48936151 48936151 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:48936151C>T ENST00000294954.7 - 8 637 c.616G>A c.(616-618)Gaa>Aaa p.E206K STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E206K|LHCGR_ENST00000403273.1_Missense_Mutation_p.E206K|LHCGR_ENST00000401907.1_Missense_Mutation_p.E206K|LHCGR_ENST00000344775.3_Missense_Mutation_p.E206K NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 206 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity p.E206K(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TGTACGTTTTCCTTTAGCTCC 0.507000 13 58 0 0 0.002450 0 0 FBXO36 130888 broad.mit.edu 37 2 230875580 230875580 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:230875580C>T ENST00000373652.3 + 5 875 c.454C>T c.(454-456)Ctg>Ttg p.L152L FBXO36_ENST00000409992.1_Silent_p.L163L|FBXO36_ENST00000283946.3_Silent_p.L183L Q8NEA4 FBX36_HUMAN F-box protein 36 183 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 7 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) ATATGGAAACCTGAGAGAAAA 0.522000 4 11 0 0 0.000248 0 0 CDH4 1002 broad.mit.edu 37 20 60498741 60498741 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:60498741G>A ENST00000360469.5 + 10 1695 c.1607G>A c.(1606-1608)cGg>cAg p.R536Q CDH4_ENST00000543233.1_Missense_Mutation_p.R462Q NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 536 Cadherin 4. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GACCCTGACCGGTTCATGCAG 0.612000 14 28 0 0 0.006122 0 0 EMB 133418 broad.mit.edu 37 5 49706745 49706745 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:49706745C>T ENST00000303221.5 - 4 653 c.438G>A c.(436-438)gaG>gaA p.E146E EMB_ENST00000508934.1_Silent_p.E92E|EMB_ENST00000514111.1_Silent_p.E96E|EMB_ENST00000506190.1_5'UTR NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 146 Ig-like V-type 1. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) GTTCCTTTTCCTCTCGAAAGA 0.303000 5 24 0 0 0.001984 0 0 PTK2B 2185 broad.mit.edu 37 8 27255255 27255255 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:27255255C>T ENST00000397501.1 + 7 962 c.154C>T c.(154-156)Cct>Tct p.P52S PTK2B_ENST00000346049.5_Missense_Mutation_p.P52S|PTK2B_ENST00000517339.1_Missense_Mutation_p.P52S|PTK2B_ENST00000544172.1_Missense_Mutation_p.P52S|PTK2B_ENST00000420218.2_Missense_Mutation_p.P52S|PTK2B_ENST00000338238.4_Missense_Mutation_p.P52S NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 52 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CAGCTTCAATCCTGGGAAAAA 0.517000 17 54 0 0 0.004007 0 0 MYOM3 127294 broad.mit.edu 37 1 24383922 24383922 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:24383922C>T ENST00000330966.7 - 37 4417 c.4255G>A c.(4255-4257)Gag>Aag p.E1419K MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1416K|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1416 Ig-like C2-type 4. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGGCCCGTCTCGGAGCCATAC 0.567000 16 20 0 0 0.006122 0 0 AFTPH 54812 broad.mit.edu 37 2 64819118 64819118 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:64819118C>T ENST00000422803.1 + 10 3077 c.2763C>T c.(2761-2763)ttC>ttT p.F921F AFTPH_ENST00000409183.1_Silent_p.F552F|AFTPH_ENST00000409933.1_Silent_p.F920F|AFTPH_ENST00000238855.7_Silent_p.F920F|AFTPH_ENST00000238856.4_Silent_p.F893F Q6ULP2 AFTIN_HUMAN aftiphilin 921 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGTTGATGTTCCCAGCCACGT 0.438000 27 38 0 0 0.005443 0 0 NCAN 1463 broad.mit.edu 37 19 19334892 19334892 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:19334892G>A ENST00000252575.5 + 4 581 c.538G>A c.(538-540)Gag>Aag p.E180K NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 180 Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) TGAGGCCCAGGAGGCCTGCCG 0.592000 16 55 0 0 0.004990 0 0 PZP 5858 broad.mit.edu 37 12 9305726 9305726 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:9305726G>A ENST00000261336.2 - 30 4016 c.3988C>T c.(3988-3990)Ctt>Ttt p.L1330F PZP_ENST00000381997.2_Missense_Mutation_p.L1116F NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CCTACCTGAAGATACACACAT 0.438000 39 35 0 0 0.001485 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433295 140433295 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140433295G>A ENST00000306549.3 + 1 2317 c.2240G>A c.(2239-2241)gGa>gAa p.G747E NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 747 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAGGCAATGGATCCTTATCT 0.393000 9 76 0 0 0.000443 0 0 KATNAL1 84056 broad.mit.edu 37 13 30805518 30805518 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:30805518G>A ENST00000380615.3 - 7 985 c.818C>T c.(817-819)tCg>tTg p.S273L KATNAL1_ENST00000380617.3_Missense_Mutation_p.S273L NM_032116.4 NP_115492.1 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 273 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) TGTAGAAGACGAAACGTTGAA 0.408000 5 35 0 0 0.000602 0 0 RPS4Y2 140032 broad.mit.edu 37 Y 22921930 22921930 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrY:22921930C>T ENST00000288666.5 + 3 258 c.258C>T c.(256-258)ttC>ttT p.F86F NM_001039567.2 NP_001034656.1 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 86 S4 RNA-binding. translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 CTGCTGGATTCATAGGTAAGG 0.413000 40 25 0 0 0.002852 0 0 CFB 629 broad.mit.edu 37 6 31918076 31918076 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:31918076G>A ENST00000556679.1 + 24 3081 c.3026G>A c.(3025-3027)gGa>gAa p.G1009E CFB_ENST00000477310.1_Missense_Mutation_p.G858E|CFB_ENST00000425368.2_Missense_Mutation_p.G507E|CFB_ENST00000456570.1_Missense_Mutation_p.G1009E P00751 CFAB_HUMAN complement factor B 507 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CCTTCAAAGGGACACGAGAGC 0.493000 63 264 0 0 0.003610 0 0 FMO1 2326 broad.mit.edu 37 1 171254618 171254618 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:171254618G>A ENST00000354841.4 + 8 1665 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K FMO1_ENST00000367750.3_Missense_Mutation_p.E512K|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.E449K Q01740 FMO1_HUMAN flavin containing monooxygenase 1 512 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATCTCCCTTTGAAAGTTTTCT 0.408000 15 40 0 0 0.000958 0 0 WDR48 57599 broad.mit.edu 37 3 39133152 39133152 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:39133152C>T ENST00000302313.5 + 17 1733 c.1705C>T c.(1705-1707)Ctc>Ttc p.L569F WDR48_ENST00000418020.1_Missense_Mutation_p.L11F|WDR48_ENST00000396258.3_Missense_Mutation_p.L487F|WDR48_ENST00000544962.1_Missense_Mutation_p.L294F|WDR48_ENST00000466405.1_3'UTR NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 569 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TCCTTTCTACCTCCAACCTCA 0.279000 9 42 0 0 0.000443 0 0 PAX8 7849 broad.mit.edu 37 2 113993096 113993096 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:113993096G>A ENST00000429538.3 - 9 1156 c.962C>T c.(961-963)cCt>cTt p.P321L AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263335.7_Intron|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000348715.5_Intron NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 321 Ser-rich. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 TAAAGAGGAAGGGGTGGAGCT 0.597000 T PPARG follicular thyroid Thyroid dysgenesis 5 26 0 0 0.001168 0 0 CD47 961 broad.mit.edu 37 3 107777218 107777218 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:107777218G>A ENST00000355354.7 - 6 866 c.750C>T c.(748-750)atC>atT p.I250I CD47_ENST00000361309.5_Silent_p.I250I NM_198793.2 NP_942088.1 Q08722 CD47_HUMAN CD47 molecule 250 blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to plasma membrane protein binding|thrombospondin receptor activity endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) CCACAGCGAGGATATAGGCTA 0.428000 4 3 0 0 0.000248 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091163 143091163 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:143091163G>A ENST00000367603.2 - 5 5455 c.4713C>T c.(4711-4713)atC>atT p.I1571I HIVEP2_ENST00000367604.1_Silent_p.I1571I|HIVEP2_ENST00000012134.2_Silent_p.I1571I NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1571 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I1571I(1) NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CCGTCTCATCGATATCTAATT 0.547000 31 102 0 0 0.002836 0 0 TTN 7273 broad.mit.edu 37 2 179440898 179440898 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179440898C>T ENST00000589042.1 - 326 70185 c.69961G>A c.(69961-69963)Gat>Aat p.D23321N TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D21680N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D14256N|TTN_ENST00000359218.5_Missense_Mutation_p.D14381N|TTN_ENST00000342992.6_Missense_Mutation_p.D20753N|TTN_ENST00000342175.6_Missense_Mutation_p.D14448N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21680 Fibronectin type-III 69. 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) ACACCTGCATCGTTGATGGCA 0.458000 6 29 0 0 0.001168 0 0 SPATA5 166378 broad.mit.edu 37 4 124235190 124235190 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:124235190C>T ENST00000274008.3 + 16 2722 c.2653C>T c.(2653-2655)Caa>Taa p.Q885* NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 885 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 TGAAGATTATCAAGAGAAGAG 0.348000 24 30 0 0 0.004656 0 0 SLC22A14 9389 broad.mit.edu 37 3 38357110 38357110 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:38357110G>A ENST00000273173.4 + 8 1531 c.1440G>A c.(1438-1440)acG>acA p.T480T SLC22A14_ENST00000448498.1_Silent_p.T480T NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 480 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) AATCCATGACGATCTTGGTGC 0.592000 51 74 0 0 0.003610 0 0 TSGA10 80705 broad.mit.edu 37 2 99685455 99685455 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:99685455A>G ENST00000393483.3 - 15 1958 c.1114T>C c.(1114-1116)Tcc>Ccc p.S372P TSGA10_ENST00000539964.1_Missense_Mutation_p.S372P|TSGA10_ENST00000355053.4_Missense_Mutation_p.S372P|TSGA10_ENST00000410001.1_Missense_Mutation_p.S372P|TSGA10_ENST00000478090.1_5'UTR NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 372 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 AATTTTTTGGACAGTGCCTAC 0.264000 13 62 0 0 0.001368 0 0 MX1 4599 broad.mit.edu 37 21 42821111 42821111 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:42821111C>T ENST00000398600.2 + 16 2346 c.1321C>T c.(1321-1323)Cgt>Tgt p.R441C MX1_ENST00000398598.3_Missense_Mutation_p.R441C|MX1_ENST00000288383.6_Missense_Mutation_p.R418C|MX1_ENST00000455164.2_Missense_Mutation_p.R441C NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 441 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) AAATCAGTATCGTGGTAGAGA 0.373000 7 99 0 0 0.004482 0 0 SNAP91 9892 broad.mit.edu 37 6 84284828 84284828 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:84284828C>T ENST00000428679.2 - 26 2936 c.2343G>A c.(2341-2343)caG>caA p.Q781Q SNAP91_ENST00000195649.6_Silent_p.Q776Q|SNAP91_ENST00000520213.1_Silent_p.Q474Q|SNAP91_ENST00000520302.1_Silent_p.Q751Q|SNAP91_ENST00000439399.2_Silent_p.Q781Q|SNAP91_ENST00000521743.1_Silent_p.Q781Q|SNAP91_ENST00000369694.2_Silent_p.Q781Q|SNAP91_ENST00000521485.1_Silent_p.Q776Q|SNAP91_ENST00000437520.1_Silent_p.Q474Q O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 781 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CAGCATTCCACTGAAGATCTC 0.428000 4 9 0 0 0.000248 0 0 TTLL7 79739 broad.mit.edu 37 1 84399432 84399432 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:84399432G>A ENST00000260505.8 - 9 1283 c.906C>T c.(904-906)acC>acT p.T302T TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 302 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CTACAATCAGGGTCTTTACCA 0.438000 8 22 0 0 0.003080 0 0 CUBNP3 100421634 broad.mit.edu 37 10 45644278 45644278 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:45644278C>T ENST00000427229.2 + 0 449 CAGGGAAATTCATCTATTTAT 0.378000 6 23 0 0 0.001984 0 0 TSEN54 283989 broad.mit.edu 37 17 73518163 73518163 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:73518163C>T ENST00000333213.6 + 8 1037 c.1001C>T c.(1000-1002)gCt>gTt p.A334V NM_207346.2 NP_997229.2 Q7Z6J9 SEN54_HUMAN TSEN54 tRNA splicing endonuclease subunit 334 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2) 13 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GAGACAGACGCTGAGTCCTGG 0.657000 3 4 0 0 0.000248 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3687268 3687268 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:3687268G>A ENST00000344754.4 - 2 134 c.135C>T c.(133-135)ttC>ttT p.F45F SIGLEC1_ENST00000202578.4_Silent_p.F45F NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 45 Ig-like V-type. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CGTCGGCAGGGAAGCTGAAGA 0.662000 3 4 0 0 0.004672 0 0 PRRC2B 84726 broad.mit.edu 37 9 134321958 134321958 + Missense_Mutation SNP C C G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:134321958C>G ENST00000357304.4 + 6 839 c.784C>G c.(784-786)Cga>Gga p.R262G PRRC2B_ENST00000405995.1_Missense_Mutation_p.R262G|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R262G NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 262 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 TCAGCCTGTCCGAAAAGGGGC 0.537000 10 12 0 0 0.000673 0 0 LOC440040 440040 broad.mit.edu 37 11 49598034 49598034 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:49598034C>T ENST00000527477.1 + 0 638 TGGAAAGGATCAATTCAGACC 0.532000 5 9 0 0 0.001168 0 0 SEMA4C 54910 broad.mit.edu 37 2 97530576 97530576 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:97530576G>A ENST00000305476.5 - 9 960 c.828C>T c.(826-828)acC>acT p.T276T NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 276 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 TCAGGAACGTGGTCCACTTCC 0.677000 19 26 0 0 0.002299 0 0 DNAH3 55567 broad.mit.edu 37 16 21061243 21061243 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:21061243G>A ENST00000261383.3 - 30 4334 c.4335C>T c.(4333-4335)gcC>gcT p.A1445A DNAH3_ENST00000415178.1_Silent_p.A1445A NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1445 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCTTAGCCAAGGCTTTGGCCA 0.532000 41 100 0 0 0.002852 0 0 PSMD9 5715 broad.mit.edu 37 12 122353785 122353785 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:122353785C>T ENST00000544724.1 + 3 2701 c.312C>T c.(310-312)atC>atT p.I104I PSMD9_ENST00000261817.2_Silent_p.I192I|RP11-87C12.2_ENST00000542602.1_Silent_p.I88I|RP11-87C12.2_ENST00000544911.1_3'UTR|PSMD9_ENST00000541212.1_Silent_p.I193I O00233 PSMD9_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 193 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction nucleus|proteasome regulatory particle bHLH transcription factor binding|transcription coactivator activity endometrium(1)|large_intestine(1)|lung(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231) TGACAGTGATCCGCAGGGGGG 0.478000 10 25 0 0 0.001368 0 0 CYTH4 27128 broad.mit.edu 37 22 37707063 37707063 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:37707063C>T ENST00000248901.6 + 10 1030 c.843C>T c.(841-843)ttC>ttT p.F281F NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 281 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 GGCGCTGGTTCATCCTGACCG 0.627000 41 80 0 0 0.002522 0 0 PARP4 143 broad.mit.edu 37 13 25026555 25026555 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:25026555G>A ENST00000381989.3 - 24 3108 c.3003C>T c.(3001-3003)gcC>gcT p.A1001A NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1001 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CGATACCGCAGGCGAATAACC 0.587000 53 78 0 0 0.003610 0 0 HRH4 59340 broad.mit.edu 37 18 22048792 22048792 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:22048792C>T ENST00000256906.4 + 2 334 c.234C>T c.(232-234)ttC>ttT p.F78F HRH4_ENST00000426880.2_Intron NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 78 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) ACACGCTGTTCGAATGGGATT 0.398000 4 39 0 0 0.000602 0 0 SLC1A7 6512 broad.mit.edu 37 1 53558404 53558404 + Missense_Mutation SNP C C T rs139648137 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:53558404C>T ENST00000371494.4 - 7 980 c.853G>A c.(853-855)Gac>Aac p.D285N NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 285 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GCCCTGGGGTCGTCCATCTCC 0.622000 35 66 0 0 0.001485 0 0 NLRP11 204801 broad.mit.edu 37 19 56321174 56321174 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:56321174C>T ENST00000443188.1 - 5 1512 c.802G>A c.(802-804)Gct>Act p.A268T NLRP11_ENST00000360133.3_Missense_Mutation_p.A268T|NLRP11_ENST00000589093.1_Missense_Mutation_p.A268T|NLRP11_ENST00000592953.1_Missense_Mutation_p.A169T|NLRP11_ENST00000589824.2_Missense_Mutation_p.A268T NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 268 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CAGCCTGGAGCCATTTTTCTC 0.458000 36 37 0 0 0.005524 0 0 PLCB1 23236 broad.mit.edu 37 20 8862293 8862293 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:8862293T>G ENST00000338037.6 + 32 3475 c.3448T>G c.(3448-3450)Tac>Gac p.Y1150D PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1150 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GGAGCAAGAATACCAAGACAA 0.458000 33 86 0 0 0.004878 0 0 APOB 338 broad.mit.edu 37 2 21236095 21236095 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:21236095G>A ENST00000233242.1 - 25 4280 c.4153C>T c.(4153-4155)Ctt>Ttt p.L1385F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1385 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CGAGCCCGAAGGCTGAAATGG 0.532000 52 275 0 0 0.003610 0 0 HECW2 57520 broad.mit.edu 37 2 197297976 197297976 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:197297976G>A ENST00000260983.2 - 2 354 c.172C>T c.(172-174)Cgc>Tgc p.R58C NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 58 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AAGCTGGAGCGGCTCTCAGAA 0.582000 24 45 0 0 0.005443 0 0 YBEY 54059 broad.mit.edu 37 21 47711284 47711284 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:47711284C>T ENST00000329319.3 + 3 645 c.247C>T c.(247-249)Cca>Tca p.P83S YBEY_ENST00000339195.6_Intron|YBEY_ENST00000397691.1_Missense_Mutation_p.P83S|YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397694.1_Missense_Mutation_p.P38S|YBEY_ENST00000397701.4_Missense_Mutation_p.P83S NM_058181.1 NP_478061.1 P58557 YBEY_HUMAN ybeY metallopeptidase (putative) 83 metal ion binding|metalloendopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|ovary(2) 9 GCCTGATTTTCCAGATGACTA 0.413000 10 37 0 0 0.000978 0 0 DNAH5 1767 broad.mit.edu 37 5 13794053 13794053 + Missense_Mutation SNP C C T rs147236883 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:13794053C>T ENST00000265104.4 - 48 8106 c.8002G>A c.(8002-8004)Gga>Aga p.G2668R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2668 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACCTGATCTCCCCACTCATTG 0.308000 Kartagener syndrome 8 14 0 0 0.004482 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526623 173526623 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:173526623G>A ENST00000367714.3 - 10 1493 c.1071C>T c.(1069-1071)agC>agT p.S357S SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.S255S|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 357 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TCAAAATAGGGCTCACTAACA 0.338000 146 109 0 0 0.003610 0 0 CHRND 1144 broad.mit.edu 37 2 233394806 233394806 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:233394806C>T ENST00000536614.1 + 6 695 c.667C>T c.(667-669)Cat>Tat p.H223Y CHRND_ENST00000258385.3_Silent_p.L259L|CHRND_ENST00000543200.1_Silent_p.L244L|CHRND_ENST00000457943.2_Intron Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 0 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CCTGCGTGCTCATCTCCTTCA 0.627000 11 44 0 0 0.003163 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176363 142176363 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:142176363C>T ENST00000390369.2 - 0 312 ACAGCTGAGTCCCCCTGCTCT 0.572000 22 32 0 0 0.004656 0 0 TRPC5 7224 broad.mit.edu 37 X 111097263 111097263 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:111097263C>T ENST00000262839.2 - 4 1890 c.972G>A c.(970-972)cgG>cgA p.R324R NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 324 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CCCAGTGTTTCCGCCGCCATC 0.517000 14 2 0 0 0.004007 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22864281 22864281 + Missense_Mutation SNP C C T rs143117271 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:22864281C>T ENST00000251822.6 + 5 1060 c.523C>T c.(523-525)Cgg>Tgg p.R175W RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R182W|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R197W NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 175 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) AGAGAAGGGTCGGGAGGTGGC 0.572000 15 45 0 0 0.002450 0 0 CRB1 23418 broad.mit.edu 37 1 197390751 197390751 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:197390751C>T ENST00000367400.3 + 6 1928 c.1793C>T c.(1792-1794)cCa>cTa p.P598L CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.P79L|CRB1_ENST00000535699.1_Missense_Mutation_p.P529L|CRB1_ENST00000538660.1_Missense_Mutation_p.P598L|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.P486L NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 598 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 GCTCCTACTCCACTTGAAAGT 0.448000 19 86 0 0 0.000958 0 0 RANBP2 5903 broad.mit.edu 37 2 109382422 109382422 + Silent SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:109382422A>C ENST00000283195.6 + 20 5553 c.5427A>C c.(5425-5427)ccA>ccC p.P1809P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1809 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 CCTCTAAACCAACTCATAAAC 0.418000 23 26 0 0 0.002299 0 0 ZNF560 147741 broad.mit.edu 37 19 9577333 9577333 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9577333C>T ENST00000301480.4 - 10 2503 c.2290G>A c.(2290-2292)Gga>Aga p.G764R NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 764 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GGTTTCTCTCCCATATGAGTT 0.443000 9 51 0 0 0.004482 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43939477 43939477 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:43939477C>T ENST00000282406.4 + 15 2525 c.2415C>T c.(2413-2415)tcC>tcT p.S805S NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 805 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) ACCCACTTTCCCTGCAGCCTG 0.483000 68 300 0 0 0.003610 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263823 140263823 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140263823C>T ENST00000289272.2 + 1 1970 c.1970C>T c.(1969-1971)cCc>cTc p.P657L PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P657L|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.P657H(1) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGTGAGCCCGCGCTGACG 0.692000 5 39 0 0 0.001984 0 0 TTC36 143941 broad.mit.edu 37 11 118399448 118399448 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:118399448G>A ENST00000539546.1 + 3 407 c.72G>A c.(70-72)gaG>gaA p.E24E RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|TTC36_ENST00000302783.4_Silent_p.E83E|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA A6NLP5 TTC36_HUMAN tetratricopeptide repeat domain 36 83 binding lung(2) 2 TGCTGCCTGAGAGGGCTTCAG 0.647000 11 16 0 0 0.001855 0 0 ABCB5 340273 broad.mit.edu 37 7 20766722 20766722 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:20766722C>T ENST00000404938.2 + 22 3337 c.2685C>T c.(2683-2685)gcC>gcT p.A895A ABCB5_ENST00000258738.6_Silent_p.A450A NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 450 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 GGGAAAAAGCCTTCGAGCAAA 0.323000 25 54 0 0 0.005443 0 0 CHRDL2 25884 broad.mit.edu 37 11 74414480 74414480 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:74414480G>A ENST00000376332.3 - 8 1312 c.816C>T c.(814-816)ttC>ttT p.F272F CHRDL2_ENST00000263671.5_Silent_p.F272F|CHRDL2_ENST00000534159.1_5'UTR NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 272 VWFC 3. cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) GCAAGGGGCCGAAGGCACGGA 0.642000 8 15 0 0 0.004482 0 0 USP30 84749 broad.mit.edu 37 12 109523491 109523491 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:109523491C>T ENST00000257548.5 + 13 1402 c.1309C>T c.(1309-1311)Cgg>Tgg p.R437W USP30_ENST00000392784.2_Missense_Mutation_p.R406W NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 437 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 ATACCTCTTCCGGCTGATGGC 0.458000 45 53 0 0 0.003610 0 0 ZPBP2 124626 broad.mit.edu 37 17 38031605 38031605 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:38031605T>C ENST00000377940.3 + 6 880 c.741T>C c.(739-741)agT>agC p.S247S ZPBP2_ENST00000348931.4_Silent_p.S269S|ZPBP2_ENST00000584588.1_Silent_p.S196S NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 269 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) TGGACCACAGTTTGCAAGTAG 0.378000 13 16 0 0 0.003163 0 0 FLT1 2321 broad.mit.edu 37 13 28971101 28971101 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:28971101G>A ENST00000282397.4 - 12 1907 c.1656C>T c.(1654-1656)atC>atT p.I552I FLT1_ENST00000541932.1_Silent_p.I552I NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 552 Ig-like C2-type 5. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCTTACCTGTGATATAAAAGC 0.398000 5 21 0 0 0.000602 0 0 OTOA 146183 broad.mit.edu 37 16 21721277 21721277 + Silent SNP G G A rs143326637 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:21721277G>A ENST00000388958.3 + 12 1174 c.1173G>A c.(1171-1173)tcG>tcA p.S391S OTOA_ENST00000286149.4_Silent_p.S405S|OTOA_ENST00000388956.4_Silent_p.S312S|OTOA_ENST00000388957.3_Silent_p.S67S NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 405 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GTTCTTTGTCGGATGCAGTTG 0.547000 24 37 0 0 0.005443 0 0 NEFL 4747 broad.mit.edu 37 8 24813304 24813304 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:24813304C>T ENST00000221169.5 - 0 1320 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton p.Q242H(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CCACGGAGATCTGCGCGTACT 0.577000 11 24 0 0 0.001368 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106692133 106692133 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:106692133C>T ENST00000390607.2 - 0 70 ATGGTGAATCCTCGGTGCTCA 0.493000 25 65 0 0 0.005443 0 0 CTNND1 1500 broad.mit.edu 37 11 57574431 57574431 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:57574431C>T ENST00000524630.1 + 11 2434 c.1921C>T c.(1921-1923)Cct>Tct p.P641S CTNND1_ENST00000428599.2_Missense_Mutation_p.P641S|CTNND1_ENST00000426142.2_Missense_Mutation_p.P540S|CTNND1_ENST00000530094.1_Missense_Mutation_p.P540S|CTNND1_ENST00000399039.4_Missense_Mutation_p.P647S|CTNND1_ENST00000525902.1_Missense_Mutation_p.P324S|CTNND1_ENST00000532844.1_Missense_Mutation_p.P593S|CTNND1_ENST00000360682.6_Missense_Mutation_p.P647S|CTNND1_ENST00000526772.1_Missense_Mutation_p.P318S|CTNND1_ENST00000361391.6_Missense_Mutation_p.P641S|CTNND1_ENST00000526938.1_Missense_Mutation_p.P647S|CTNND1_ENST00000399050.4_Missense_Mutation_p.P647S|CTNND1_ENST00000361796.4_Missense_Mutation_p.P641S|CTNND1_ENST00000358694.6_Missense_Mutation_p.P641S|CTNND1_ENST00000528232.1_Missense_Mutation_p.P546S|CTNND1_ENST00000531014.1_Missense_Mutation_p.P318S|CTNND1_ENST00000532463.1_Missense_Mutation_p.P540S|CTNND1_ENST00000532245.1_Missense_Mutation_p.P540S|CTNND1_ENST00000529986.1_Missense_Mutation_p.P540S|CTNND1_ENST00000529873.1_Missense_Mutation_p.P587S|CTNND1_ENST00000528621.1_Missense_Mutation_p.P587S|CTNND1_ENST00000361332.4_Missense_Mutation_p.P641S|CTNND1_ENST00000529526.1_Missense_Mutation_p.P587S|CTNND1_ENST00000532649.1_Missense_Mutation_p.P587S|CTNND1_ENST00000532787.1_Missense_Mutation_p.P540S|CTNND1_ENST00000530748.1_Missense_Mutation_p.P593S|CTNND1_ENST00000529919.1_Missense_Mutation_p.P647S|CTNND1_ENST00000526357.1_Missense_Mutation_p.P587S|CTNND1_ENST00000534579.1_Missense_Mutation_p.P587S|CTNND1_ENST00000527467.1_Missense_Mutation_p.P324S|CTNND1_ENST00000415361.2_Missense_Mutation_p.P546S|CTNND1_ENST00000533667.1_Missense_Mutation_p.P318S O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 647 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) AGTGGATTTCCCTAAAAGAAC 0.378000 5 7 0 0 0.000602 0 0 CCDC39 339829 broad.mit.edu 37 3 180372635 180372635 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:180372635C>T ENST00000273654.4 - 13 1716 c.1097G>A c.(1096-1098)aGa>aAa p.R366K CCDC39_ENST00000442201.2_Missense_Mutation_p.R282K Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 282 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CACAGAAATTCTTTTCTCAAA 0.358000 13 30 0 0 0.002450 0 0 SALL1 6299 broad.mit.edu 37 16 51175015 51175015 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:51175015G>A ENST00000440970.1 - 2 1258 c.827C>T c.(826-828)tCg>tTg p.S276L SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S373L NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 373 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGTGAGGACGATGATGAGAC 0.512000 29 58 0 0 0.001061 0 0 CPPED1 55313 broad.mit.edu 37 16 12758853 12758853 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:12758853G>A ENST00000381774.4 - 4 1075 c.835C>T c.(835-837)Cga>Tga p.R279* CPPED1_ENST00000261660.4_Missense_Mutation_p.P105L|CPPED1_ENST00000433677.2_Nonsense_Mutation_p.R137* NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 279 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 ACCACGACTCGGAGCCCGTGG 0.537000 38 49 0 0 0.005524 0 0 DDX11 1663 broad.mit.edu 37 12 31242042 31242042 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:31242042C>A ENST00000407793.2 + 7 1000 c.749C>A c.(748-750)cCc>cAc p.P250H DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.P224H|DDX11_ENST00000545668.1_Missense_Mutation_p.P250H|DDX11_ENST00000350437.4_Missense_Mutation_p.P250H|DDX11_ENST00000542838.1_Missense_Mutation_p.P250H NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 250 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) AAGAAGAGCCCCTTTGGCAAG 0.522000 Multiple Myeloma(12;0.14) 6 49 8.12818e-05 0.000168507 0.001984 1 0 ZNF236 7776 broad.mit.edu 37 18 74607011 74607011 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:74607011C>T ENST00000253159.8 + 10 1652 c.1454C>T c.(1453-1455)cCc>cTc p.P485L ZNF236_ENST00000320610.9_Missense_Mutation_p.P487L NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 485 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CATGTGTGTCCCTACTGCGCC 0.667000 21 30 0 0 0.003954 0 0 GCK 2645 broad.mit.edu 37 7 44197675 44197675 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:44197675G>A ENST00000395796.3 - 2 323 c.39C>T c.(37-39)tcC>tcT p.S13S GCK_ENST00000437084.1_Intron|GCK_ENST00000403799.3_Intron|GCK_ENST00000476008.1_Intron|GCK_ENST00000345378.2_Intron NM_033508.1 NP_277043.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 0 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 ATCTGACCTGggagttgggtt 0.542000 15 484 0 0 0.002450 0 0 SKAP2 8935 broad.mit.edu 37 7 26883666 26883666 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:26883666T>C ENST00000345317.2 - 4 603 c.290A>G c.(289-291)gAt>gGt p.D97G SKAP2_ENST00000539623.1_5'UTR NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 97 B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 GGGGGCTTCATCGTCTTTATC 0.413000 43 123 0 0 0.003610 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8218223 8218223 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:8218223G>A ENST00000361926.3 + 5 1099 c.e5-1 ARHGEF15_ENST00000421050.1_Splice_Site NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 TTTCTCCACAGGGAAGAGGAG 0.607000 13 13 0 0 0.001368 0 0 ZNF281 23528 broad.mit.edu 37 1 200377285 200377285 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:200377285G>A ENST00000294740.2 - 2 1673 c.1549C>T c.(1549-1551)Ctc>Ttc p.L517F ZNF281_ENST00000367352.3_Missense_Mutation_p.L481F|ZNF281_ENST00000367353.1_Missense_Mutation_p.L517F NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 517 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 GTACTTTGGAGAAGACCAATG 0.398000 35 145 0 0 0.001706 0 0 ARRDC3 57561 broad.mit.edu 37 5 90667261 90667261 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:90667261G>A ENST00000265138.3 - 8 1467 c.1201C>T c.(1201-1203)Cct>Tct p.P401S NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 401 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GACTGATCAGGATTTGGATCA 0.398000 6 10 0 0 0.001168 0 0 SYNE2 23224 broad.mit.edu 37 14 64628973 64628973 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:64628973C>T ENST00000357395.3 + 89 16577 c.5433C>T c.(5431-5433)ccC>ccT p.P1811P ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.P5426P|SYNE2_ENST00000394768.2_Silent_p.P1811P|SYNE2_ENST00000554584.1_Silent_p.P5343P|SYNE2_ENST00000358025.3_Silent_p.P5426P|SYNE2_ENST00000555002.1_Silent_p.P2060P Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5426 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGATCCTGCCCCCAGCCCTGC 0.547000 33 40 0 0 0.001287 0 0 EPHB6 2051 broad.mit.edu 37 7 142563955 142563955 + Missense_Mutation SNP G G C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:142563955G>C ENST00000392957.2 + 9 2130 c.1343G>C c.(1342-1344)gGg>gCg p.G448A EPHB6_ENST00000411471.2_Missense_Mutation_p.G171A|EPHB6_ENST00000442129.1_Missense_Mutation_p.G448A NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 448 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GTGTTAGTGGGGGGACTCCGG 0.617000 5 26 0 0 0.000443 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348394 140348394 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140348394G>A ENST00000289269.5 + 1 2575 c.2043G>A c.(2041-2043)gtG>gtA p.V681V PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 681 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGCTGTGGTGGATAGGGTTT 0.473000 8 65 0 0 0.000443 0 0 TLK2 11011 broad.mit.edu 37 17 60689856 60689856 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:60689856C>T ENST00000582809.1 + 23 2439 c.1736C>T c.(1735-1737)tCt>tTt p.S579F TLK2_ENST00000343388.7_Missense_Mutation_p.S696F|TLK2_ENST00000346027.5_Missense_Mutation_p.S728F|TLK2_ENST00000542523.1_Missense_Mutation_p.S696F|TLK2_ENST00000326270.9_Missense_Mutation_p.S750F Q86UE8 TLK2_HUMAN tousled-like kinase 2 750 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 AAGTCAGTCTCTACAAGTAGC 0.502000 31 55 0 0 0.001512 0 0 MYO18B 84700 broad.mit.edu 37 22 26264314 26264314 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:26264314G>A ENST00000335473.7 + 22 4163 c.3913G>A c.(3913-3915)Gat>Aat p.D1305N MYO18B_ENST00000536101.1_Missense_Mutation_p.D1305N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1306N NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1305 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGAGACCCTGGATCTGGAAAA 0.527000 6 11 0 0 0.004482 0 0 IGSF10 285313 broad.mit.edu 37 3 151161357 151161357 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:151161357C>T ENST00000282466.3 - 5 5377 c.5378G>A c.(5377-5379)gGa>gAa p.G1793E NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1793 Ig-like C2-type 4. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGCCTACTTCCCTGGGATGA 0.502000 16 41 0 0 0.004990 0 0 OR3A1 4994 broad.mit.edu 37 17 3195632 3195632 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:3195632G>A ENST00000323404.1 - 1 244 c.245C>T c.(244-246)cCa>cTa p.P82L RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 CAACATTGATGGAACAGTGAC 0.562000 15 22 0 0 0.004007 0 0 NSUN4 387338 broad.mit.edu 37 1 46810494 46810494 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:46810494C>T ENST00000474844.1 + 2 765 c.115C>T c.(115-117)Cct>Tct p.P39S NSUN4_ENST00000537428.1_5'UTR|NSUN4_ENST00000536062.1_5'UTR|NSUN4_ENST00000498008.1_3'UTR NM_199044.3 NP_950245.2 Q96CB9 NSUN4_HUMAN NOP2/Sun domain family, member 4 39 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) GCCCAAATTCCCTGCTGTTCG 0.502000 7 177 0 0 0.003080 0 0 MGAM 8972 broad.mit.edu 37 7 141803166 141803166 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:141803166C>T ENST00000475668.2 + 70 8165 c.8111C>T c.(8110-8112)cCc>cTc p.P2704L MGAM_ENST00000549489.2_Missense_Mutation_p.P1808L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1808 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GGCAGTGTCCCCGTTACCAGT 0.458000 11 20 0 0 0.001368 0 0 CCR1 1230 broad.mit.edu 37 3 46245260 46245260 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:46245260G>A ENST00000296140.3 - 2 670 c.545C>T c.(544-546)aCc>aTc p.T182I CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 182 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AAGGCTGCAGGTGTGGTGAGT 0.498000 27 70 0 0 0.001271 0 0 HERC2 8924 broad.mit.edu 37 15 28424160 28424160 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:28424160C>T ENST00000261609.7 - 59 9144 c.9036G>A c.(9034-9036)aaG>aaA p.K3012K NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3012 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGGCATACACCTTCCCTTCCA 0.517000 4 47 0 0 0.000602 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011267 105011267 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:105011267C>T ENST00000372582.1 + 11 2430 c.1674C>T c.(1672-1674)atC>atT p.I558I IL1RAPL2_ENST00000344799.4_Silent_p.I558I|IL1RAPL2_ENST00000538500.1_Silent_p.I163I NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 558 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AAATGCCCATCAAGAAAAAAG 0.428000 37 25 0 0 0.004878 0 0 KPNA6 23633 broad.mit.edu 37 1 32632830 32632830 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:32632830C>T ENST00000373625.3 + 12 1270 c.1177C>T c.(1177-1179)Cgt>Tgt p.R393C KPNA6_ENST00000537234.1_Missense_Mutation_p.R390C|KPNA6_ENST00000545542.1_Missense_Mutation_p.R398C NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 393 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AGCAGAGTTTCGTACAAGGAA 0.463000 90 157 0 0 0.003610 0 0 CEP192 55125 broad.mit.edu 37 18 13073048 13073048 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:13073048A>G ENST00000506447.1 + 30 5560 c.5480A>G c.(5479-5481)aAc>aGc p.N1827S CEP192_ENST00000430049.2_Missense_Mutation_p.N1352S|CEP192_ENST00000325971.8_Missense_Mutation_p.N1231S NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1422 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTGACCAGTAACTGTGAGATC 0.348000 7 75 0 0 0.004482 0 0 OR56B1 387748 broad.mit.edu 37 11 5757959 5757959 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:5757959C>T ENST00000317121.3 + 1 279 c.213C>T c.(211-213)ttC>ttT p.F71F TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) TGTATATTTTCCTTGGCATCC 0.493000 5 22 0 0 0.000602 0 0 GLIS3 169792 broad.mit.edu 37 9 3829391 3829391 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:3829391C>T ENST00000324333.10 - 9 2303 c.2110G>A c.(2110-2112)Gac>Aac p.D704N GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D859N NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 704 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) ACTAGGCAGTCCTCAAACGAA 0.537000 12 9 0 0 0.001368 0 0 SEC16A 9919 broad.mit.edu 37 9 139371701 139371701 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:139371701G>A ENST00000313050.7 - 1 440 c.367C>T c.(367-369)Ccg>Tcg p.P123S NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 2093 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CCAGAAAACGGACTGGCATGT 0.582000 41 40 0 0 0.001485 0 0 UTP3 57050 broad.mit.edu 37 4 71555661 71555661 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:71555661C>T ENST00000254803.2 + 1 1466 c.1267C>T c.(1267-1269)Cct>Tct p.P423S NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 423 brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) GGGACTTACTCCTAGGAGAAA 0.393000 37 40 0 0 0.001287 0 0 ACP6 51205 broad.mit.edu 37 1 147120214 147120214 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:147120214C>T ENST00000369238.5 - 9 1425 c.e9-1 ACP6_ENST00000460583.1_Splice_Site NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) ATACAGCTTTCTGCAAGAGGA 0.493000 26 49 0 0 0.005443 0 0 TSPAN2 10100 broad.mit.edu 37 1 115615584 115615584 + Silent SNP G G A rs150329225 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:115615584G>A ENST00000369516.2 - 2 145 c.114C>T c.(112-114)ttC>ttT p.F38F TSPAN2_ENST00000369515.2_Silent_p.F38F|TSPAN2_ENST00000369514.2_Silent_p.F38F NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 38 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TGGCACCTCCGAACCGAAACC 0.502000 28 54 0 0 0.003271 0 0 COL5A3 50509 broad.mit.edu 37 19 10100192 10100192 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:10100192G>A ENST00000264828.3 - 25 2084 c.1999C>T c.(1999-2001)Cct>Tct p.P667S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 667 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) GGGTTTCCAGGGGGACCCTGA 0.572000 7 27 0 0 0.003080 0 0 EPHA3 2042 broad.mit.edu 37 3 89521768 89521768 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:89521768G>A ENST00000336596.2 + 16 3070 c.2846_splice c.e16+1 p.D949_splice EPHA3_ENST00000494014.1_Intron NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 949 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) GATTTCCACAGAGTAAGAAAA 0.383000 TSP Lung(6;0.00050) 16 26 0 0 0.003163 0 0 OR1D2 4991 broad.mit.edu 37 17 2995854 2995854 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:2995854G>A ENST00000331459.1 - 1 436 c.437C>T c.(436-438)tCc>tTc p.S146F NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 146 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 CCAACACAAGGAAAGGAGTAA 0.522000 14 17 0 0 0.002450 0 0 PAK7 57144 broad.mit.edu 37 20 9561046 9561046 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:9561046A>T ENST00000378429.3 - 5 1282 c.736T>A c.(736-738)Tcc>Acc p.S246T PAK7_ENST00000353224.5_Missense_Mutation_p.S246T|PAK7_ENST00000378423.1_Missense_Mutation_p.S246T NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 246 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CTCTCCTTGGAGCACCCGCTG 0.532000 29 47 0 0 0.005443 0 0 SIPA1 6494 broad.mit.edu 37 11 65417654 65417654 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:65417654C>T ENST00000394224.3 + 14 3190 c.2894C>T c.(2893-2895)tCt>tTt p.S965F SIPA1_ENST00000534313.1_Missense_Mutation_p.S965F|SIPA1_ENST00000394227.3_Missense_Mutation_p.S863F|SIPA1_ENST00000527525.1_Missense_Mutation_p.S863F NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 965 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 ACTCCAAAATCTGATGCTGAG 0.607000 17 82 0 0 0.001216 0 0 TEKT1 83659 broad.mit.edu 37 17 6716248 6716248 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:6716248C>T ENST00000338694.2 - 6 883 c.754G>A c.(754-756)Gat>Aat p.D252N TEKT1_ENST00000535086.1_Missense_Mutation_p.D106N NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 252 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TTGCGCAGATCATTGGCTGTC 0.542000 54 42 0 0 0.003610 0 0 NAA16 79612 broad.mit.edu 37 13 41933026 41933026 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:41933026C>T ENST00000379406.3 + 12 1662 c.1338C>T c.(1336-1338)tcC>tcT p.S446S NAA16_ENST00000379367.3_Silent_p.S446S NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 446 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 TCATCAATTCCAAATGTGCAA 0.373000 51 52 0 0 0.003610 0 0 NID1 4811 broad.mit.edu 37 1 236192896 236192896 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:236192896G>A ENST00000264187.6 - 7 1774 c.1692C>T c.(1690-1692)tcC>tcT p.S564S NID1_ENST00000366595.3_Silent_p.S564S NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 564 Nidogen G2 beta-barrel. 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) CAATGTGCACGGAGGAGCCGA 0.642000 6 14 0 0 0.001168 0 0 GRIA1 2890 broad.mit.edu 37 5 153149814 153149814 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:153149814G>A ENST00000285900.5 + 13 2452 c.2109G>A c.(2107-2109)ggG>ggA p.G703G GRIA1_ENST00000518783.1_Silent_p.G713G|GRIA1_ENST00000448073.4_Silent_p.G713G|GRIA1_ENST00000521843.2_Silent_p.G634G|GRIA1_ENST00000340592.5_Silent_p.G703G|GRIA1_ENST00000518142.1_Silent_p.G623G NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 703 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAGAGGAGGGGATGATTCGAG 0.483000 7 26 0 0 0.001984 0 0 ATM 472 broad.mit.edu 37 11 108124634 108124634 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:108124634C>T ENST00000278616.4 + 13 2377 c.1992C>T c.(1990-1992)acC>acT p.T664T ATM_ENST00000452508.2_Silent_p.T664T NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 664 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ACTTTTTAACCATTGTGAGAG 0.388000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 12 33 0 0 0.001855 0 0 FANCI 55215 broad.mit.edu 37 15 89849247 89849247 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:89849247C>T ENST00000310775.7 + 32 3445 c.3359C>T c.(3358-3360)tCt>tTt p.S1120F FANCI_ENST00000300027.8_Missense_Mutation_p.S1060F NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 1120 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) GAAGAGGCCTCTTCTCAGGCA 0.403000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 41 64 0 0 0.003610 0 0 SLC6A2 6530 broad.mit.edu 37 16 55725938 55725938 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:55725938G>A ENST00000379906.2 + 5 1147 c.892G>A c.(892-894)Gac>Aac p.D298N SLC6A2_ENST00000561820.1_Missense_Mutation_p.D298N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D298N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D193N|SLC6A2_ENST00000414754.3_Missense_Mutation_p.D298N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D298N|SLC6A2_ENST00000566163.1_Intron NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 298 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CCTGCACATCGACTTCTACCG 0.572000 27 54 0 0 0.001512 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54891547 54891547 + Translation_Start_Site SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:54891547T>A ENST00000293373.6 + 0 53 NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GACATTGCTGTCTGGTGCTCC 0.527000 5 25 0 0 0.001168 0 0 FUT1 2523 broad.mit.edu 37 19 49253686 49253686 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:49253686C>T ENST00000310160.3 - 4 1827 c.853G>A c.(853-855)Gga>Aga p.G285R NM_000148.3 NP_000139.1 P19526 FUT1_HUMAN fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 285 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) GCCTCCTGTCCATCGCCAGCA 0.572000 18 65 0 0 0.000958 0 0 MORC1 27136 broad.mit.edu 37 3 108818308 108818308 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:108818308G>A ENST00000232603.5 - 6 402 c.320C>T c.(319-321)tCc>tTc p.S107F MORC1_ENST00000483760.1_Missense_Mutation_p.S107F NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 107 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AATTCTCATGGACCCACTATA 0.348000 10 28 0 0 0.000443 0 0 ADAM12 8038 broad.mit.edu 37 10 127724837 127724837 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:127724837C>T ENST00000368679.4 - 21 2725 c.2416G>A c.(2416-2418)Ggc>Agc p.G806S NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 806 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) ACATTCAGGCCGTTGAGGGGT 0.562000 27 61 0 0 0.002096 0 0 PDE7B 27115 broad.mit.edu 37 6 136512877 136512877 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:136512877C>T ENST00000308191.6 + 13 1555 c.1252C>T c.(1252-1254)Ccc>Tcc p.P418S RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 418 signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) GAGCCTGTTGCCCAGGCAGCA 0.642000 3 9 0 0 0.004672 0 0 ANLN 54443 broad.mit.edu 37 7 36478869 36478869 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:36478869G>A ENST00000265748.2 + 21 3161 c.2940G>A c.(2938-2940)gtG>gtA p.V980V ANLN_ENST00000396068.2_Silent_p.V943V NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 980 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 aatGTCAAGTGAATTCCAGTG 0.313000 16 30 0 0 0.003163 0 0 NPY5R 4889 broad.mit.edu 37 4 164271826 164271826 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:164271826C>T ENST00000515560.1 + 4 1923 c.401C>T c.(400-402)tCa>tTa p.S134L NPY5R_ENST00000338566.3_Missense_Mutation_p.S134L|NPY5R_ENST00000506953.1_Missense_Mutation_p.S134L Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 134 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.L130fs*9(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) ATTTTAATATCAATTGCCATT 0.358000 56 72 0 0 0.003610 0 0 NLRP12 91662 broad.mit.edu 37 19 54327271 54327271 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54327271G>A ENST00000324134.6 - 1 326 c.158C>T c.(157-159)cCc>cTc p.P53L NLRP12_ENST00000354278.3_Missense_Mutation_p.P53L|NLRP12_ENST00000351894.4_Missense_Mutation_p.P53L|NLRP12_ENST00000391772.1_Missense_Mutation_p.P53L|NLRP12_ENST00000535162.1_Missense_Mutation_p.P53L|NLRP12_ENST00000345770.5_Missense_Mutation_p.P53L|NLRP12_ENST00000391773.1_Missense_Mutation_p.P53L|NLRP12_ENST00000391775.3_Missense_Mutation_p.P53L NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 53 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CATTTCCAGGGGACCGGCCTT 0.592000 13 52 0 0 0.002450 0 0 TMC4 147798 broad.mit.edu 37 19 54676769 54676769 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54676769G>A ENST00000376591.4 - 1 175 c.44C>T c.(43-45)tCt>tTt p.S15F TMC4_ENST00000301187.4_Missense_Mutation_p.S15F NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 15 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACCCCCTAGAGGAGCCCCA 0.632000 32 138 0 0 0.003755 0 0 CCER1 196477 broad.mit.edu 37 12 91347709 91347709 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:91347709G>A ENST00000358859.2 - 1 1244 c.811C>T c.(811-813)Ctt>Ttt p.L271F CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 AGCGGGGCAAGAGACTGGTTT 0.537000 81 282 0 0 0.003610 0 0 CACNA1C 775 broad.mit.edu 37 12 2719789 2719789 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:2719789A>G ENST00000399655.1 + 28 3906 c.3641A>G c.(3640-3642)tAc>tGc p.Y1214C CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y1234C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Y1234C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y1239C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y1214C 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 1234 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) AAAGTGTGGTACGTGGTCAAC 0.602000 16 39 0 0 0.004007 0 0 BPHL 670 broad.mit.edu 37 6 3129332 3129332 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:3129332C>T ENST00000380368.2 + 5 1025 c.381C>T c.(379-381)acC>acT p.T127T BPHL_ENST00000434640.1_Silent_p.T127T|BPHL_ENST00000380379.5_Silent_p.T144T|BPHL_ENST00000380375.3_Silent_p.T127T Q86WA6 BPHL_HUMAN biphenyl hydrolase-like (serine hydrolase) 144 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) GGGGCATAACCGCACTCATTG 0.498000 37 81 0 0 0.001706 0 0 HEPACAM 220296 broad.mit.edu 37 11 124793282 124793282 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:124793282G>A ENST00000298251.4 - 4 1162 c.757C>T c.(757-759)Ctt>Ttt p.L253F NM_152722.4 NP_689935.2 Q14CZ8 HECAM_HUMAN hepatic and glial cell adhesion molecule 253 cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) AAGGTCACAAGGAGGAAGATG 0.517000 31 45 0 0 0.002836 0 0 DSCAM 1826 broad.mit.edu 37 21 41711083 41711083 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:41711083C>T ENST00000400454.1 - 7 1947 c.1470G>A c.(1468-1470)gcG>gcA p.A490A NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 490 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGACGACTCCCGCCGAGTTGT 0.517000 12 35 0 0 0.004990 0 0 GSS 2937 broad.mit.edu 37 20 33516755 33516755 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:33516755C>T ENST00000216951.2 - 13 1400 c.e13-1 GSS_ENST00000451957.2_Splice_Site|GSS_ENST00000541098.1_Splice_Site NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) CTTTTCCTGCCTATAGAAATG 0.557000 20 29 0 0 0.003330 0 0 OR56B1 387748 broad.mit.edu 37 11 5757809 5757809 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:5757809C>T ENST00000317121.3 + 1 129 c.63C>T c.(61-63)ttC>ttT p.F21F TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) TCTCTGAGTTCATCCTGCTGG 0.453000 13 21 0 0 0.001368 0 0 ACOXL 55289 broad.mit.edu 37 2 111551682 111551682 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:111551682G>A ENST00000389811.4 + 5 500 c.276G>A c.(274-276)atG>atA p.M92I ACOXL_ENST00000439055.1_Missense_Mutation_p.M92I|ACOXL_ENST00000340561.4_Missense_Mutation_p.M92I Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 92 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TGTTTGCAATGACCGAGAGGG 0.557000 11 45 0 0 0.001855 0 0 LILRA4 23547 broad.mit.edu 37 19 54849831 54849831 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54849831C>T ENST00000291759.4 - 3 247 c.191G>A c.(190-192)gGa>gAa p.G64E NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 64 Ig-like C2-type 1. integral to membrane receptor activity p.G64E(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CATTGAGTTTCCCTCTTTATC 0.542000 27 81 0 0 0.002096 0 0 DPYD 1806 broad.mit.edu 37 1 98164935 98164935 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:98164935C>T ENST00000370192.3 - 6 752 c.652G>A c.(652-654)Gaa>Aaa p.E218K DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 218 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TCTTGTTTTTCAAATATAGTG 0.363000 16 28 0 0 0.004007 0 0 RNF38 152006 broad.mit.edu 37 9 36390535 36390535 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:36390535G>A ENST00000259605.6 - 2 198 c.91C>T c.(91-93)Ctg>Ttg p.L31L RNF38_ENST00000357058.3_5'UTR|RNF38_ENST00000377885.2_5'UTR|RNF38_ENST00000350199.4_Intron|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000353739.4_Intron NM_022781.4 NP_073618.3 Q9H0F5 RNF38_HUMAN ring finger protein 38 31 zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) AGAGGGAACAGGCTCTGAAGT 0.458000 52 91 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9046048 9046048 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9046048C>T ENST00000397910.4 - 5 35786 c.35583G>A c.(35581-35583)atG>atA p.M11861I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11863 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 AAGTTGGAATCATTGTGCTGG 0.493000 18 92 0 0 0.006122 0 0 SSX7 280658 broad.mit.edu 37 X 52681933 52681933 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:52681933G>A ENST00000298181.5 - 3 329 c.171C>T c.(169-171)gcC>gcT p.A57A NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 57 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) GTTTAGTCATGGCCTCATACT 0.408000 39 22 0 0 0.004878 0 0 GGT5 2687 broad.mit.edu 37 22 24622626 24622626 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:24622626C>T ENST00000327365.4 - 7 1427 c.1011G>A c.(1009-1011)ggG>ggA p.G337G GGT5_ENST00000398292.3_Silent_p.G337G|GGT5_ENST00000418439.2_Silent_p.G260G|GGT5_ENST00000263112.7_Silent_p.G305G NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 337 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 TTCGAGGGTCCCCCAGCCTCC 0.607000 19 36 0 0 0.001216 0 0 EVC2 132884 broad.mit.edu 37 4 5624544 5624544 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:5624544G>A ENST00000310917.2 - 14 2712 c.1981C>T c.(1981-1983)Ctt>Ttt p.L661F EVC2_ENST00000344408.5_Missense_Mutation_p.L741F|EVC2_ENST00000344938.1_Missense_Mutation_p.L741F NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 741 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 AACAGCGAAAGGGTCAGGGTC 0.647000 23 71 0 0 0.003954 0 0 DOCK3 1795 broad.mit.edu 37 3 51112817 51112817 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:51112817G>A ENST00000266037.9 + 7 518 c.495G>A c.(493-495)aaG>aaA p.K165K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 165 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGCCTCGGAAGGACTTTGAAG 0.438000 4 15 0 0 0.000602 0 0 ODF1 4956 broad.mit.edu 37 8 103573083 103573083 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:103573083C>T ENST00000285402.3 + 2 880 c.724C>T c.(724-726)Cga>Tga p.R242* ODF1_ENST00000518835.1_Nonsense_Mutation_p.R35* NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 242 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CTGTGGAAGCCGATTTTCCTG 0.537000 7 122 0 0 0.003080 0 0 ESRP2 80004 broad.mit.edu 37 16 68265548 68265548 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:68265548G>A ENST00000473183.2 - 11 1887 c.1349C>T c.(1348-1350)cCa>cTa p.P450L ESRP2_ENST00000565858.1_Missense_Mutation_p.P460L Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 460 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 GGGCAGCAGTGGGGCAGTCAG 0.612000 6 23 0 0 0.004482 0 0 PTPRT 11122 broad.mit.edu 37 20 41076894 41076894 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:41076894G>A ENST00000373198.3 - 9 1761 c.1526C>T c.(1525-1527)cCc>cTc p.P509L PTPRT_ENST00000373184.1_Missense_Mutation_p.P509L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P509L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P509L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P509L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P509L|PTPRT_ENST00000373201.1_Missense_Mutation_p.P509L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 509 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGTCTCATTGGGAGGTTTCCA 0.483000 24 69 0 0 0.005443 0 0 USP34 9736 broad.mit.edu 37 2 61415732 61415732 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:61415732T>C ENST00000398571.2 - 80 10222 c.10146A>G c.(10144-10146)ccA>ccG p.P3382P NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3382 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) AAGTGCTCGTTGGGGTCAGGA 0.468000 34 48 0 0 0.005524 0 0 GRIA1 2890 broad.mit.edu 37 5 153085398 153085398 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:153085398C>T ENST00000285900.5 + 11 1937 c.1594C>T c.(1594-1596)Ctt>Ttt p.L532F GRIA1_ENST00000518783.1_Missense_Mutation_p.L542F|GRIA1_ENST00000448073.4_Missense_Mutation_p.L542F|GRIA1_ENST00000521843.2_Missense_Mutation_p.L463F|GRIA1_ENST00000340592.5_Missense_Mutation_p.L532F|GRIA1_ENST00000518142.1_Missense_Mutation_p.L452F NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 532 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTTCTCCTTCCTTGATCCTTT 0.438000 21 100 0 0 0.002780 0 0 COL6A3 1293 broad.mit.edu 37 2 238263553 238263553 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:238263553G>A ENST00000295550.4 - 24 7068 c.6616C>T c.(6616-6618)Ccc>Tcc p.P2206S COL6A3_ENST00000347401.3_Missense_Mutation_p.P2005S|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1599S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2000S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2000S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2006S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2206 Collagen-like 3.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTAGCTCCGGGGGGTCCCCTT 0.592000 4 20 0 0 0.001168 0 0 SEL1L3 23231 broad.mit.edu 37 4 25777909 25777909 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:25777909C>T ENST00000399878.3 - 17 2781 c.2659G>A c.(2659-2661)Gaa>Aaa p.E887K SEL1L3_ENST00000264868.5_Missense_Mutation_p.E852K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.E734K NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 887 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CATGAACCTTCCAGGTAGGCA 0.413000 18 67 0 0 0.001216 0 0 TPTE2 93492 broad.mit.edu 37 13 20006665 20006665 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:20006665G>A ENST00000400230.2 - 16 1214 c.1170C>T c.(1168-1170)ctC>ctT p.L390L TPTE2_ENST00000382978.1_Silent_p.L350L|TPTE2_ENST00000255310.6_Silent_p.L313L|TPTE2_ENST00000400103.2_Silent_p.L279L|TPTE2_ENST00000382975.4_Silent_p.L350L|TPTE2_ENST00000382977.4_Silent_p.L390L|TPTE2_ENST00000457266.2_Silent_p.L279L|TPTE2_ENST00000390680.2_Silent_p.L313L Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 390 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GTCTTGGAGGGAGATTCCAGT 0.358000 6 42 0 0 0.001168 0 0 ZNF536 9745 broad.mit.edu 37 19 31040061 31040061 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:31040061G>A ENST00000355537.3 + 4 3682 c.3535G>A c.(3535-3537)Gat>Aat p.D1179N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.D1179N(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGAGAACAACGATGAAGAGGA 0.557000 20 52 0 0 0.002299 0 0 RP1 6101 broad.mit.edu 37 8 55542164 55542164 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:55542164G>A ENST00000220676.1 + 4 5870 c.5722G>A c.(5722-5724)Gat>Aat p.D1908N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1908 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGACTCTTTGGATAAACTGTA 0.403000 30 50 0 0 0.001786 0 0 SLC5A9 200010 broad.mit.edu 37 1 48708153 48708153 + Silent SNP C C A rs138580488 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:48708153C>A ENST00000236495.5 + 14 1827 c.1777C>A c.(1777-1779)Cgg>Agg p.R593R SLC5A9_ENST00000533824.1_Silent_p.R589R|SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000438567.2_Silent_p.R568R NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 568 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity p.R586W(1) breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 ATGGTGGACTCGGAACTGCCC 0.597000 38 67 9.8876e-21 2.07894e-20 0.004878 1 0 NUP210 23225 broad.mit.edu 37 3 13421065 13421065 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:13421065C>T ENST00000254508.5 - 7 1056 c.974G>A c.(973-975)aGg>aAg p.R325K NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 325 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) AAGGATATTCCTGTGGCCAAG 0.562000 30 91 0 0 0.003755 0 0 OBSL1 23363 broad.mit.edu 37 2 220420890 220420890 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:220420890C>T ENST00000265318.4 - 13 4374 c.4061G>A c.(4060-4062)gGc>gAc p.G1354D OBSL1_ENST00000265317.5_Silent_p.G386G|OBSL1_ENST00000373876.1_Silent_p.G1395G|OBSL1_ENST00000404537.1_Silent_p.G1487G|OBSL1_ENST00000603926.1_Silent_p.G1487G O75147 OBSL1_HUMAN obscurin-like 1 0 Ig-like 11. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCAGGGGCTGCCCACCTCGCA 0.667000 11 12 0 0 0.000978 0 0 POP1 10940 broad.mit.edu 37 8 99170302 99170302 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:99170302T>A ENST00000401707.2 + 16 2959 c.2878T>A c.(2878-2880)Tcc>Acc p.S960T POP1_ENST00000349693.3_Missense_Mutation_p.S960T NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 960 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GTTGCACTGCTCCAGAACTCT 0.587000 43 96 0 0 0.003610 0 0 CDHR2 54825 broad.mit.edu 37 5 175995791 175995791 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:175995791G>A ENST00000510636.1 + 4 511 c.237G>A c.(235-237)gtG>gtA p.V79V CDHR2_ENST00000261944.5_Silent_p.V79V|CDHR2_ENST00000506348.1_Silent_p.V79V NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 79 Cadherin 1. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CTGGGGAAGTGAAGCTGGCCA 0.627000 25 40 0 0 0.001512 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155935516 155935516 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:155935516G>A ENST00000368316.1 - 9 765 c.295C>T c.(295-297)Ccc>Tcc p.P99S ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P99S|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.P127S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P126S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P126S Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 126 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CTGTCGGAGGGGTAGATGGCC 0.622000 23 33 0 0 0.003330 0 0 DSP 1832 broad.mit.edu 37 6 7580111 7580111 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:7580111G>A ENST00000379802.3 + 23 4029 c.3688G>A c.(3688-3690)Gat>Aat p.D1230N DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1230 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.D1230N(1) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCAAAAAGAGGATGATTCCAA 0.378000 15 44 0 0 0.004990 0 0 IMPG2 50939 broad.mit.edu 37 3 100964655 100964655 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:100964655C>T ENST00000193391.7 - 12 1721 c.1534G>A c.(1534-1536)Gta>Ata p.V512I NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 512 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCATCTTCTACCAAGTGAGAT 0.433000 50 96 0 0 0.003610 0 0 SCG3 29106 broad.mit.edu 37 15 52005530 52005530 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:52005530G>A ENST00000220478.3 + 11 1611 c.1207_splice c.e11-1 p.G403_splice RP11-313P18.1_ENST00000557891.1_RNA|SCG3_ENST00000542355.2_Splice_Site_p.G171_splice NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 403 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) CCTCTTCCAGGAAAAACAGAA 0.348000 32 76 0 0 0.005524 0 0 UBN1 29855 broad.mit.edu 37 16 4927076 4927076 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:4927076C>T ENST00000396658.4 + 15 3932 c.3229C>T c.(3229-3231)Cct>Tct p.P1077S UBN1_ENST00000545171.1_Missense_Mutation_p.P1077S|UBN1_ENST00000262376.6_Missense_Mutation_p.P1077S|UBN1_ENST00000590769.1_Missense_Mutation_p.P1077S NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 1077 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 CGTCACAGGCCCTGCCCCCGG 0.582000 86 122 0 0 0.003610 0 0 PRB2 653247 broad.mit.edu 37 12 11546329 11546329 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:11546329C>T ENST00000389362.4 - 3 718 c.683G>A c.(682-684)gGa>gAa p.G228E PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTGTTGTCTCCTTGTGGGGG 0.612000 100 132 0 0 0.003610 0 0 DCAF13 25879 broad.mit.edu 37 8 104427482 104427482 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:104427482A>G ENST00000297579.5 + 1 541 c.264A>G c.(262-264)gaA>gaG p.E88E NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 75 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CAGCTAAAGAACCGCCCCTTG 0.652000 24 83 0 0 0.003330 0 0 ZAN 7455 broad.mit.edu 37 7 100333359 100333359 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:100333359G>A ENST00000542585.1 + 0 218 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GAAGCCTCCGGACCAGAAGCT 0.478000 10 12 0 0 0.000978 0 0 AMDHD1 144193 broad.mit.edu 37 12 96354389 96354389 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:96354389G>A ENST00000266736.2 + 5 907 c.801G>A c.(799-801)atG>atA p.M267I NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 267 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding p.M267I(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 TCCACCCGATGAAGGCTGCTG 0.418000 18 66 0 0 0.001882 0 0 RUNX1T1 862 broad.mit.edu 37 8 93003996 93003996 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:93003996C>T ENST00000523629.1 - 7 1316 c.862G>A c.(862-864)Ggc>Agc p.G288S RUNX1T1_ENST00000436581.2_Missense_Mutation_p.G299S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.G261S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.G251S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.G251S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.G288S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.G251S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.G261S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 288 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGAGGCAGGCCATTGGGCTGG 0.557000 13 41 0 0 0.001855 0 0 TENM2 57451 broad.mit.edu 37 5 167626007 167626007 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:167626007C>T ENST00000519204.1 + 15 2805 c.2687C>T c.(2686-2688)cCc>cTc p.P896L TENM2_ENST00000545108.1_Missense_Mutation_p.P1017L|TENM2_ENST00000518659.1_Missense_Mutation_p.P1017L|TENM2_ENST00000403607.2_Missense_Mutation_p.P841L|TENM2_ENST00000520394.1_Missense_Mutation_p.P785L teneurin transmembrane protein 2 AACTCCATCCCCAGCTGTGAC 0.587000 14 12 0 0 0.001855 0 0 DOCK3 1795 broad.mit.edu 37 3 51264821 51264821 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:51264821C>T ENST00000266037.9 + 16 1508 c.1485C>T c.(1483-1485)atC>atT p.I495I NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 495 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AATTGCCTATCCCCATTGACC 0.493000 27 64 0 0 0.001271 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20868116 20868116 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:20868116C>T ENST00000381552.1 + 6 941 c.573C>T c.(571-573)ttC>ttT p.F191F SLCO1C1_ENST00000545102.1_Silent_p.F73F|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000266509.2_Silent_p.F191F|SLCO1C1_ENST00000545604.1_Silent_p.F191F Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 191 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TTTATGTTTTCCTGGGCAATC 0.398000 60 89 0 0 0.003610 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77324710 77324710 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:77324710C>T ENST00000558012.1 + 11 1302 c.813C>T c.(811-813)gcC>gcT p.A271A PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Silent_p.A271A|PSTPIP1_ENST00000267939.5_Silent_p.A270A|PSTPIP1_ENST00000559295.1_Silent_p.A271A NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 271 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 TCATCCAGGCCAAGAGCACGG 0.657000 7 35 0 0 0.000443 0 0 ITIH5 80760 broad.mit.edu 37 10 7618458 7618458 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:7618458C>T ENST00000256861.6 - 10 2014 c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K ITIH5_ENST00000397146.2_Missense_Mutation_p.E646K|ITIH5_ENST00000298441.6_Missense_Mutation_p.E432K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E646K|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.E428K NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 646 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ACCACCGGTTCGGGTCCCATG 0.682000 5 14 0 0 0.001168 0 0 NLRP14 338323 broad.mit.edu 37 11 7064198 7064198 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:7064198G>A ENST00000299481.4 + 4 1287 c.941G>A c.(940-942)aGa>aAa p.R314K NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 314 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ACTTCTAAGAGACTAAAGCAG 0.418000 19 37 0 0 0.001216 0 0 PPP1R10 5514 broad.mit.edu 37 6 30571928 30571928 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:30571928C>T ENST00000376511.2 - 14 1917 c.1365G>A c.(1363-1365)atG>atA p.M455I NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 455 Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 CCTTCTCCTCCATGTTATCAT 0.557000 57 94 0 0 0.003610 0 0 OR51I2 390064 broad.mit.edu 37 11 5475616 5475616 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:5475616C>T ENST00000341449.2 + 1 979 c.898C>T c.(898-900)Cgc>Tgc p.R300C HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R300C(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGGAAATCCGCCGAGCCAT 0.443000 70 76 0 0 0.003610 0 0 SLC16A9 220963 broad.mit.edu 37 10 61414278 61414278 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:61414278C>T ENST00000395348.3 - 5 1142 c.506G>A c.(505-507)gGa>gAa p.G169E SLC16A9_ENST00000395347.1_Missense_Mutation_p.G169E NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 169 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 CAGCAAGCATCCATCCAGTCC 0.438000 27 71 0 0 0.001512 0 0 ALKBH6 84964 broad.mit.edu 37 19 36504285 36504285 + Silent SNP G G A rs148155004 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:36504285G>A ENST00000486389.1 - 2 763 c.15C>T c.(13-15)gaC>gaT p.D5D AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_Silent_p.D5D|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000378875.3_Silent_p.D33D|ALKBH6_ENST00000252984.7_Silent_p.D5D Q3KRA9 ALKB6_HUMAN alkB, alkylation repair homolog 6 (E. coli) 5 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 9 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGACTCTGGCGTCCTGCTCCT 0.572000 44 53 0 0 0.003610 0 0 MXRA5 25878 broad.mit.edu 37 X 3248158 3248158 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:3248158G>A ENST00000217939.6 - 4 764 c.610C>T c.(610-612)Cgg>Tgg p.R204W NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 204 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGCATGTTCCGAAGCATGCTG 0.463000 12 6 0 0 0.001368 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524132 24524132 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:24524132C>T ENST00000376862.3 + 2 1032 c.399C>T c.(397-399)ttC>ttT p.F133F NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 133 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 ATGGGAAGTTCATTGACCTCT 0.587000 48 91 0 0 0.003610 0 0 LRIF1 55791 broad.mit.edu 37 1 111493978 111493978 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:111493978T>C ENST00000369763.4 - 2 1918 c.1528A>G c.(1528-1530)Ata>Gta p.I510V LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 GAGGAACTTATTTTCTCTATG 0.403000 43 104 0 0 0.003610 0 0 EFCAB6 64800 broad.mit.edu 37 22 43972186 43972186 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:43972186G>A ENST00000262726.7 - 26 3664 c.3411C>T c.(3409-3411)ttC>ttT p.F1137F EFCAB6_ENST00000396231.2_Silent_p.F985F NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CCTCCTCAAGGAAACAGCTAA 0.313000 27 51 0 0 0.001512 0 0 PLB1 151056 broad.mit.edu 37 2 28719005 28719005 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:28719005C>T ENST00000422425.2 + 1 68 c.24C>T c.(22-24)ttC>ttT p.F8F PLB1_ENST00000327757.5_Silent_p.F8F NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 8 lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CAGGCATTTTCCTCCTGGAGC 0.597000 23 55 0 0 0.003954 0 0 ABCA4 24 broad.mit.edu 37 1 94520762 94520762 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:94520762C>T ENST00000370225.3 - 16 2578 c.2492G>A c.(2491-2493)gGg>gAg p.G831E ABCA4_ENST00000535735.1_Missense_Mutation_p.G757E NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 831 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GAATTCGTCCCCTTCCGTGGG 0.537000 4 66 0 0 0.000602 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762386 130762386 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:130762386G>A ENST00000392429.1 + 2 3197 c.819G>A c.(817-819)aaG>aaA p.K273K TMEM200A_ENST00000545622.1_Silent_p.K273K|TMEM200A_ENST00000296978.3_Silent_p.K273K NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 273 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GCGGCTCTAAGAAATGTGAAA 0.438000 38 69 0 0 0.001951 0 0 CCR6 1235 broad.mit.edu 37 6 167549829 167549829 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:167549829C>T ENST00000341935.5 + 3 663 c.111C>T c.(109-111)tcC>tcT p.S37S CCR6_ENST00000400926.2_Silent_p.S37S|CCR6_ENST00000349984.4_Silent_p.S37S NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 37 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) TACTGTGCTCCTTGCAGGAGG 0.433000 35 93 0 0 0.004289 0 0 UGT1A1 54658 broad.mit.edu 37 2 234678194 234678194 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:234678194G>A ENST00000360418.3 + 5 1322 c.1322G>A c.(1321-1323)gGa>gAa p.G441E UGT1A1_ENST00000305208.5_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Missense_Mutation_p.G173E|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.G438E|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron P22309 UD11_HUMAN 0 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CAGCAGTCAGGAAGACAGATG 0.507000 7 31 0 0 0.004482 0 0 CDH15 1013 broad.mit.edu 37 16 89249980 89249980 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:89249980G>A ENST00000289746.2 + 4 447 c.382G>A c.(382-384)Gga>Aga p.G128R CDH15_ENST00000521087.1_3'UTR NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 128 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) CCTGGACCTGGGAGGATCCAC 0.587000 16 32 0 0 0.001523 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858202 9858202 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:9858202G>A ENST00000396573.2 - 14 3508 c.3199C>T c.(3199-3201)Cgg>Tgg p.R1067W GRIN2A_ENST00000535259.1_Missense_Mutation_p.R910W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1067W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1067W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1067W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1067W NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1067 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R1067W(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACGTGGCCCGATTTGACGTT 0.498000 66 93 0 0 0.003610 0 0 KLK12 43849 broad.mit.edu 37 19 51534143 51534143 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:51534143G>A ENST00000529888.1 - 4 307 c.232C>T c.(232-234)Ctc>Ttc p.L78F CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.L164L|KLK12_ENST00000525263.1_Silent_p.L164L|KLK12_ENST00000250351.4_Silent_p.L164L|KLK12_ENST00000250352.11_Silent_p.L54L NM_145895.1 NP_665902.1 Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 0 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) AGACGATGGAGAGGTTGAGGC 0.612000 22 104 0 0 0.005443 0 0 TSC1 7248 broad.mit.edu 37 9 135804225 135804225 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:135804225G>A ENST00000298552.3 - 3 256 c.35C>T c.(34-36)gCc>gTc p.A12V TSC1_ENST00000545250.1_Missense_Mutation_p.A12V|TSC1_ENST00000440111.2_Missense_Mutation_p.A12V|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Missense_Mutation_p.A12V NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 12 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GTCCAGCATGGCAAGAAGCTC 0.507000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 28 17 0 0 0.001512 0 0 SLC26A7 115111 broad.mit.edu 37 8 92301414 92301414 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:92301414G>A ENST00000276609.3 + 3 483 c.244G>A c.(244-246)Ggg>Agg p.G82R SLC26A7_ENST00000523719.1_Missense_Mutation_p.G82R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.G82R NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 82 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TGGTTTATATGGGTCTCTGTT 0.403000 54 96 0 0 0.003610 0 0 NHS 4810 broad.mit.edu 37 X 17710468 17710468 + Silent SNP G G A rs139131486 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:17710468G>A ENST00000380060.3 + 3 1070 c.732G>A c.(730-732)cgG>cgA p.R244R NHS_ENST00000398097.3_Silent_p.R67R NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 244 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) ACCGGAGCCGGAGCGATCGCC 0.522000 52 17 0 0 0.003610 0 0 GAS8 2622 broad.mit.edu 37 16 90097793 90097793 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:90097793C>T ENST00000268699.4 + 3 299 c.177C>T c.(175-177)atC>atT p.I59I GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.I34I NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 59 Regulates microtubule-binding (By similarity). negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) GGGACAAGATCCACACCTTCT 0.622000 21 28 0 0 0.002780 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106405836 106405836 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:106405836C>T ENST00000390593.2 - 0 189 AGACACTGTCCCCGGAGATGG 0.572000 21 30 0 0 0.001216 0 0 CACNA1S 779 broad.mit.edu 37 1 201035026 201035026 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:201035026G>A ENST00000362061.3 - 22 3019 c.2793C>T c.(2791-2793)atC>atT p.I931I CACNA1S_ENST00000367338.3_Silent_p.I931I NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 931 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGACCAGCACGATGTTCCCGA 0.632000 18 26 0 0 0.001216 0 0 TTBK1 84630 broad.mit.edu 37 6 43214429 43214429 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:43214429G>A ENST00000259750.4 + 2 114 c.31G>A c.(31-33)Gaa>Aaa p.E11K NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 11 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCTTAAGGACGAAACCAACAT 0.667000 21 18 0 0 0.002780 0 0 SSH2 85464 broad.mit.edu 37 17 28120914 28120914 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:28120914C>T ENST00000269033.3 - 2 256 c.105G>A c.(103-105)agG>agA p.R35R SSH2_ENST00000540801.1_Silent_p.R62R NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 35 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAACATACCTCCTGGGCTGTG 0.338000 32 24 0 0 0.005524 0 0 HNF1A 6927 broad.mit.edu 37 12 121437168 121437168 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:121437168G>A ENST00000257555.6 + 8 1825 c.1599G>A c.(1597-1599)ctG>ctA p.L533L HNF1A_ENST00000544413.1_Silent_p.L533L|HNF1A_ENST00000541395.1_Silent_p.L533L P20823 HNF1A_HUMAN HNF1 homeobox A 533 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGAGCGCCCTGGCCAGCCTCA 0.677000 Hepatic Adenoma, Familial Clustering of 69 101 0 0 0.003610 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870614 51870614 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:51870614G>A ENST00000371497.5 + 2 1504 c.617G>A c.(616-618)gGg>gAg p.G206E TSHZ2_ENST00000603338.2_Missense_Mutation_p.G203E|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G203E NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 206 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AAGATGTGCGGGACTGTGTTC 0.582000 21 36 0 0 0.002780 0 0 PARD3B 117583 broad.mit.edu 37 2 205986523 205986523 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:205986523C>T ENST00000406610.2 + 8 1222 c.1015C>T c.(1015-1017)Cct>Tct p.P339S PARD3B_ENST00000358768.2_Missense_Mutation_p.P339S|PARD3B_ENST00000462231.1_Missense_Mutation_p.P339S|PARD3B_ENST00000351153.1_Missense_Mutation_p.P339S|PARD3B_ENST00000349953.3_Missense_Mutation_p.P339S 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 339 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) AACCGATAGTCCTGAAACAGA 0.488000 22 25 0 0 0.003330 0 0 ZNF362 149076 broad.mit.edu 37 1 33741748 33741748 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:33741748C>T ENST00000539719.1 + 3 256 c.86C>T c.(85-87)cCc>cTc p.P29L ZNF362_ENST00000373428.5_Missense_Mutation_p.P29L NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCCCCTCCTCCCACCATGCCC 0.662000 24 62 0 0 0.002780 0 0 OR5D18 219438 broad.mit.edu 37 11 55587908 55587908 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:55587908C>T ENST00000333976.4 + 1 823 c.803C>T c.(802-804)tCc>tTc p.S268F NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCCAAAAACTCCAGGCACACA 0.507000 5 30 0 0 0.001168 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626440 1626440 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:1626440G>A ENST00000421627.2 + 9 2243 c.2109G>A c.(2107-2109)ctG>ctA p.L703L NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 782 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACCTGGAGCTGGAGGGGTTCC 0.602000 17 33 0 0 0.004990 0 0 DMWD 1762 broad.mit.edu 37 19 46289452 46289452 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:46289452C>T ENST00000270223.6 - 3 1347 c.1302G>A c.(1300-1302)gcG>gcA p.A434A DMWD_ENST00000377735.3_Silent_p.A434A NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 434 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) TGTCCTGGCCCGCCGAGCCAA 0.706000 5 7 0 0 0.000602 0 0 SLC38A4 55089 broad.mit.edu 37 12 47170749 47170749 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:47170749G>A ENST00000447411.1 - 12 1318 c.1112C>T c.(1111-1113)tCc>tTc p.S371F SLC38A4_ENST00000266579.4_Missense_Mutation_p.S371F NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 371 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CCCCGTGATGGAAATATTTGA 0.398000 6 7 0 0 0.004482 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580267 35580267 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:35580267G>A ENST00000373330.1 + 11 3010 c.2836G>A c.(2836-2838)Gat>Aat p.D946N ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.D946N Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 946 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GAAATCAGTAGATCTTGGCAA 0.274000 24 40 0 0 0.001786 0 0 PARM1 25849 broad.mit.edu 37 4 75937790 75937790 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:75937790C>T ENST00000307428.7 + 2 411 c.199C>T c.(199-201)Cca>Tca p.P67S PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 67 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CTCGGTGCTCCCAGTTACAGC 0.517000 27 16 0 0 0.003954 0 0 SPDYE4 388333 broad.mit.edu 37 17 8660636 8660636 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:8660636C>T ENST00000328794.6 - 2 460 c.284G>A c.(283-285)cGa>cAa p.R95Q NM_001128076.1 NP_001121548.1 A6NLX3 SPDE4_HUMAN speedy/RINGO cell cycle regulator family member E4 95 breast(1)|endometrium(2)|kidney(1) 4 TGCTCGCTTTCGCTTCAGCTT 0.597000 4 6 0 0 0.000602 0 0 TRIM72 493829 broad.mit.edu 37 16 31234238 31234238 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:31234238G>A ENST00000322122.3 + 6 1115 c.831G>A c.(829-831)tgG>tgA p.W277* NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 277 B30.2/SPRY. exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 TCCAGGTGTGGAGGAAGATGT 0.597000 47 87 0 0 0.003610 0 0 NEO1 4756 broad.mit.edu 37 15 73562426 73562426 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:73562426C>T ENST00000339362.5 + 18 3017 c.2570C>T c.(2569-2571)cCa>cTa p.P857L NEO1_ENST00000558964.1_Missense_Mutation_p.P857L|NEO1_ENST00000560262.1_Missense_Mutation_p.P857L|NEO1_ENST00000261908.6_Missense_Mutation_p.P857L Q92859 NEO1_HUMAN neogenin 1 857 Fibronectin type-III 5. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 ATGATGCCACCAGTGGGAGTT 0.458000 73 163 0 0 0.003610 0 0 SDK2 54549 broad.mit.edu 37 17 71354253 71354253 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:71354253G>A ENST00000392650.3 - 40 5558 c.5558C>T c.(5557-5559)cCc>cTc p.P1853L SDK2_ENST00000388726.3_Missense_Mutation_p.P1834L|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1853 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GCGGGTGATGGGCCCTTTGCC 0.657000 69 116 0 0 0.003610 0 0 HTRA3 94031 broad.mit.edu 37 4 8293165 8293165 + Silent SNP C C T rs144431760 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:8293165C>T ENST00000307358.2 + 4 981 c.777C>T c.(775-777)atC>atT p.I259I HTRA3_ENST00000382512.3_Silent_p.I259I NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 259 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 TGGTGGCCATCGGCAGTCCCT 0.622000 53 47 0 0 0.003610 0 0 RNF10 9921 broad.mit.edu 37 12 121000839 121000839 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:121000839C>T ENST00000325954.4 + 8 1681 c.1220C>T c.(1219-1221)cCc>cTc p.P407L RNF10_ENST00000413266.2_Missense_Mutation_p.P407L NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 407 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGATGGCTCCCTTGGCGAAG 0.537000 26 36 0 0 0.003954 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30950960 30950960 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:30950960G>A ENST00000402321.1 - 3 1569 c.1252C>T c.(1252-1254)Cgc>Tgc p.R418C GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R418C|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R418C|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R418C|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R418C|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R418C|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R418C Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 418 R -> L (in Ref. 1; AA sequence). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 AGGAAATCGCGAATGAACTTC 0.687000 14 25 0 0 0.003163 0 0 RP1 6101 broad.mit.edu 37 8 55541724 55541724 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:55541724C>T ENST00000220676.1 + 4 5430 c.5282C>T c.(5281-5283)cCt>cTt p.P1761L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1761 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCTGAAAATCCTGGCATGTGT 0.433000 8 24 0 0 0.003080 0 0 SLC9A9 285195 broad.mit.edu 37 3 143292979 143292979 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:143292979G>A ENST00000316549.6 - 8 1159 c.951C>T c.(949-951)ttC>ttT p.F317F NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 317 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity p.L318fs*45(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 AAGAAAGCAGGAAAAACAGGC 0.498000 17 33 0 0 0.001882 0 0 MXRA5 25878 broad.mit.edu 37 X 3241350 3241350 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:3241350C>T ENST00000217939.6 - 5 2530 c.2376G>A c.(2374-2376)ggG>ggA p.G792G NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 792 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGAGATTTTTCCCACGGACTT 0.453000 19 12 0 0 0.001216 0 0 YAP1 10413 broad.mit.edu 37 11 102033193 102033193 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:102033193C>T ENST00000282441.5 + 3 967 c.579C>T c.(577-579)atC>atT p.I193I YAP1_ENST00000524575.1_Silent_p.I15I|YAP1_ENST00000526343.1_Silent_p.I193I|YAP1_ENST00000345877.2_Silent_p.I193I|YAP1_ENST00000537274.1_Silent_p.I193I|YAP1_ENST00000531439.1_Silent_p.I193I NM_001130145.2 NP_001123617.1 P46937 YAP1_HUMAN Yes-associated protein 1 193 WW 1. cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) TTAGTCACATCGATCAGACAA 0.473000 6 166 0 0 0.001168 0 0 RAI1 10743 broad.mit.edu 37 17 17699091 17699091 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:17699091G>A ENST00000353383.1 + 3 3298 c.2829G>A c.(2827-2829)gaG>gaA p.E943E RAI1_ENST00000261641.6_Silent_p.E943E NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 943 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GCTGGTTTGAGTCCTCTCTGT 0.642000 17 12 0 0 0.000958 0 0 SLC14A2 8170 broad.mit.edu 37 18 43258960 43258960 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:43258960G>A ENST00000255226.6 + 19 3349 c.2533G>A c.(2533-2535)Ggt>Agt p.G845S RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.G322S|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G845S NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 845 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 TGCCTACCTGGGTGCTGCCCT 0.438000 16 13 0 0 0.001216 0 0 RASAL2 9462 broad.mit.edu 37 1 178420757 178420757 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:178420757C>T ENST00000448150.3 + 10 2443 c.1625C>T c.(1624-1626)cCc>cTc p.P542L RASAL2_ENST00000462775.1_Missense_Mutation_p.P412L|RASAL2_ENST00000367649.3_Missense_Mutation_p.P560L NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 412 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GAAGTGGATCCCAGCAAATGT 0.423000 50 44 0 0 0.003610 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73181857 73181857 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:73181857C>T ENST00000545377.1 + 25 3414 c.3238C>T c.(3238-3240)Ctg>Ttg p.L1080L ARHGEF28_ENST00000287898.5_Silent_p.L1080L|ARHGEF28_ENST00000426542.2_Silent_p.L1080L|ARHGEF28_ENST00000512883.1_Silent_p.L44L|ARHGEF28_ENST00000513042.2_Silent_p.L1080L|ARHGEF28_ENST00000296799.4_Silent_p.L767L|ARHGEF28_ENST00000296794.6_Silent_p.L1080L|ARHGEF28_ENST00000437974.1_Silent_p.L1080L NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GAAGCAGGCACTGATGAGTGA 0.383000 21 24 0 0 0.001216 0 0 MIR521-2 574481 broad.mit.edu 37 19 54219879 54219879 + RNA SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54219879T>A ENST00000384818.1 + 0 32 NR_030203.1 AGGGAAGAATTTTCTCTTGTC 0.413000 74 102 0 0 0.003610 0 0 PRKCI 5584 broad.mit.edu 37 3 169977775 169977775 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:169977775C>T ENST00000295797.4 + 3 547 c.242C>T c.(241-243)tCa>tTa p.S81L NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 81 Interaction with PARD6A.|OPR.|Regulatory domain. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TGTACAGTATCATCTCAGTTG 0.338000 32 58 0 0 0.001485 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763495 92763495 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:92763495C>T ENST00000318238.4 - 5 3006 c.1790G>A c.(1789-1791)aGa>aAa p.R597K SAMD9L_ENST00000437805.1_Missense_Mutation_p.R597K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R597K NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 597 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CATCTTCATTCTTGTTTGTAG 0.348000 28 54 0 0 0.005443 0 0 CASP10 843 broad.mit.edu 37 2 202074097 202074097 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:202074097C>T ENST00000286186.6 + 9 1662 c.1227C>T c.(1225-1227)tcC>tcT p.S409S CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Silent_p.S409S|CASP10_ENST00000448480.1_Silent_p.S366S|CASP10_ENST00000346817.5_Silent_p.S366S|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Silent_p.S342S NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 409 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 TACAGCCTTCCGTATCCATCG 0.532000 15 52 0 0 0.004007 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152222712 152222712 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:152222712C>T ENST00000243347.3 + 3 450 c.375C>T c.(373-375)gcC>gcT p.A125A NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 125 Link. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) GATGGGATGCCTATTGCTACA 0.388000 10 57 0 0 0.000673 0 0 TCIRG1 10312 broad.mit.edu 37 11 67811694 67811694 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:67811694C>T ENST00000265686.3 + 9 1011 c.903C>T c.(901-903)gcC>gcT p.A301A TCIRG1_ENST00000532635.1_Silent_p.A85A NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 301 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 AGATGAAGGCCGTGTACCTGG 0.672000 4 5 0 0 0.000248 0 0 PRKCQ 5588 broad.mit.edu 37 10 6470206 6470206 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:6470206G>A ENST00000263125.5 - 18 2183 c.2084C>T c.(2083-2085)tCc>tTc p.S695F PRKCQ_ENST00000539722.1_Missense_Mutation_p.S570F|PRKCQ_ENST00000397176.2_Missense_Mutation_p.S632F NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 695 AGC-kinase C-terminal. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 GTTCATGAAGGAAAAGTTCCT 0.488000 47 110 0 0 0.003610 0 0 EDEM3 80267 broad.mit.edu 37 1 184663275 184663275 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:184663275G>A ENST00000318130.8 - 20 2987 c.2721C>T c.(2719-2721)gtC>gtT p.V907V EDEM3_ENST00000367512.3_Silent_p.V880V NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 907 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTATAGGCTGGACCTTTTTAC 0.373000 17 14 0 0 0.004007 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013189 149013189 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:149013189G>A ENST00000535454.1 + 4 692 c.143G>A c.(142-144)gGa>gAa p.G48E MAGEA8_ENST00000542674.1_Missense_Mutation_p.G48E|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Missense_Mutation_p.G48E NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 48 NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) CTGATCATGGGAACCCTTGAG 0.587000 16 4 0 0 0.004990 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306962 2306962 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:2306962G>A ENST00000290974.2 - 8 1444 c.1105C>T c.(1105-1107)Cca>Tca p.P369S ZFYVE28_ENST00000511071.1_Missense_Mutation_p.P339S|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.P299S NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 369 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CTGTGAGCTGGGGACTGGCAG 0.672000 43 27 0 0 0.002222 0 0 KAT6B 23522 broad.mit.edu 37 10 76719728 76719728 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:76719728C>T ENST00000287239.4 + 4 1111 c.621_splice c.e4-1 p.P208_splice KAT6B_ENST00000372724.1_Splice_Site_p.P208_splice|KAT6B_ENST00000372725.1_Splice_Site_p.P208_splice|KAT6B_ENST00000372711.1_Splice_Site_p.P208_splice|KAT6B_ENST00000372714.1_Splice_Site_p.P208_splice NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 208 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TTTGTCATAGCCCCGTGCTGA 0.333000 21 70 0 0 0.003954 0 0 LILRB5 10990 broad.mit.edu 37 19 54759988 54759988 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54759988C>T ENST00000450632.1 - 4 623 c.546G>A c.(544-546)tgG>tgA p.W182* LILRB5_ENST00000449561.2_Nonsense_Mutation_p.W191*|LILRB5_ENST00000316219.5_Nonsense_Mutation_p.W191*|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 191 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ATCTGAACCTCCACCTGCAGC 0.567000 14 51 0 0 0.004007 0 0 SLU7 10569 broad.mit.edu 37 5 159840982 159840982 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:159840982G>A ENST00000297151.4 - 4 716 c.329C>T c.(328-330)tCc>tTc p.S110F NM_006425.4 NP_006416.3 O95391 SLU7_HUMAN SLU7 splicing factor homolog (S. cerevisiae) 110 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTAATTATGGAATTCTATAA 0.313000 7 29 0 0 0.001984 0 0 ZAN 7455 broad.mit.edu 37 7 100388681 100388681 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:100388681C>T ENST00000542585.1 + 0 7620 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AACCTCAACACCTTTGGCAAC 0.592000 9 17 0 0 0.001368 0 0 SRD5A1 6715 broad.mit.edu 37 5 6652030 6652030 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:6652030C>T ENST00000274192.5 + 2 603 c.369C>T c.(367-369)ttC>ttT p.F123F SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Intron NM_001047.2 NP_001038.1 P18405 S5A1_HUMAN steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) 123 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) CGATTATGTTCTGTACCTGTA 0.448000 15 63 0 0 0.006122 0 0 PPOX 5498 broad.mit.edu 37 1 161140245 161140245 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:161140245G>A ENST00000367999.4 + 10 1300 c.1034G>A c.(1033-1035)gGa>gAa p.G345E PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.G345E|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Missense_Mutation_p.G90E NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 345 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGAGTCCTGGGAATCGTGTAT 0.537000 24 121 0 0 0.001786 0 0 C6orf165 154313 broad.mit.edu 37 6 88173910 88173910 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:88173910A>G ENST00000507897.1 + 13 1894 c.1811A>G c.(1810-1812)aAg>aGg p.K604R C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.K604R Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 604 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) CGTGGAGGAAAGAGCGAAATC 0.463000 6 28 0 0 0.001984 0 0 ELMO1 9844 broad.mit.edu 37 7 37382274 37382274 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:37382274G>A ENST00000310758.4 - 2 668 c.21C>T c.(19-21)atC>atT p.I7I ELMO1_ENST00000442504.1_Silent_p.I7I|ELMO1_ENST00000448602.1_Silent_p.I7I NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 7 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 CCACCTTGACGATGTCCGCGG 0.498000 58 130 0 0 0.003610 0 0 ITGAX 3687 broad.mit.edu 37 16 31374393 31374393 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:31374393G>A ENST00000268296.4 + 13 1618 c.1497G>A c.(1495-1497)agG>agA p.R499R ITGAX_ENST00000562522.1_Silent_p.R499R NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 499 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCTTGCCCAGGGGGGTGAGTG 0.657000 22 28 0 0 0.005443 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643778 37643778 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:37643778G>A ENST00000356958.4 - 5 1281 c.1023C>T c.(1021-1023)ctC>ctT p.L341L ZNF585A_ENST00000292841.5_Silent_p.L286L|ZNF585A_ENST00000392157.2_Silent_p.L286L|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Silent_p.L286L Q6P3V2 Z585A_HUMAN zinc finger protein 585A 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATGTGTAACGAGGTTGGAAT 0.398000 45 72 0 0 0.002852 0 0 HTR3B 9177 broad.mit.edu 37 11 113803757 113803757 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:113803757C>T ENST00000260191.2 + 6 895 c.638C>T c.(637-639)tCc>tTc p.S213F HTR3B_ENST00000537778.1_Missense_Mutation_p.S202F NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 213 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) CTATCTGTGTCCTCCACATAC 0.498000 12 16 0 0 0.001855 0 0 BRWD1 54014 broad.mit.edu 37 21 40665885 40665885 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:40665885G>A ENST00000342449.3 - 8 761 c.683C>T c.(682-684)tCt>tTt p.S228F BRWD1_ENST00000380800.3_Missense_Mutation_p.S228F|BRWD1_ENST00000333229.2_Missense_Mutation_p.S228F NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AATTTCTGCAGAATGACCTCT 0.363000 19 36 0 0 0.000958 0 0 HCAR3 8843 broad.mit.edu 37 12 123201117 123201117 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:123201117G>A ENST00000528880.2 - 1 322 c.168C>T c.(166-168)ctC>ctT p.L56L HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 56 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) TCCAGGACTTGAGGTGGAAAC 0.522000 5 35 0 0 0.001168 0 0 TANC2 26115 broad.mit.edu 37 17 61432354 61432354 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:61432354C>T ENST00000424789.2 + 12 1967 c.1963C>T c.(1963-1965)Cta>Tta p.L655L TANC2_ENST00000389520.4_Silent_p.L655L NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 655 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 AGGGTCCTATCTATATCTGAA 0.383000 41 76 0 0 0.002522 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168834 60168834 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:60168834G>A ENST00000261187.4 + 4 922 c.758G>A c.(757-759)gGa>gAa p.G253E SLC16A7_ENST00000552432.1_Missense_Mutation_p.G253E|SLC16A7_ENST00000552024.1_Missense_Mutation_p.G253E|SLC16A7_ENST00000543448.1_Missense_Mutation_p.G154E|SLC16A7_ENST00000547379.1_Missense_Mutation_p.G253E NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 253 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TATCTGTCTGGAAATGTCATT 0.348000 10 21 0 0 0.000673 0 0 ILDR1 286676 broad.mit.edu 37 3 121712217 121712217 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:121712217C>T ENST00000273691.3 - 6 1352 c.1247G>A c.(1246-1248)gGg>gAg p.G416E ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.G428E|ILDR1_ENST00000344209.5_Missense_Mutation_p.G460E|ILDR1_ENST00000393631.1_Missense_Mutation_p.G371E NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 460 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GCGTCGTCTCCCGTGCCTCTG 0.692000 8 11 0 0 0.003080 0 0 NEB 4703 broad.mit.edu 37 2 152527573 152527573 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:152527573C>T ENST00000397345.3 - 38 4672 c.4470G>A c.(4468-4470)atG>atA p.M1490I NEB_ENST00000604864.1_Missense_Mutation_p.M1490I|NEB_ENST00000172853.10_Missense_Mutation_p.M1490I|NEB_ENST00000603639.1_Missense_Mutation_p.M1490I|NEB_ENST00000409198.1_Missense_Mutation_p.M1490I|NEB_ENST00000427231.2_Missense_Mutation_p.M1490I NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1490 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GAGCCAACACCATGCCCATGG 0.478000 7 39 0 0 0.000978 0 0 MXRA5 25878 broad.mit.edu 37 X 3229527 3229527 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:3229527C>T ENST00000217939.6 - 7 6871 c.6717G>A c.(6715-6717)gtG>gtA p.V2239V NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2239 Ig-like C2-type 6. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCGGTTTCATCACCACATCCA 0.517000 46 19 0 0 0.003610 0 0 SRL 6345 broad.mit.edu 37 16 4242630 4242630 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:4242630C>T ENST00000399609.3 - 6 958 c.946G>A c.(946-948)Gaa>Aaa p.E316K SRL_ENST00000537996.1_Missense_Mutation_p.E274K NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 775 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 TTCAGGTCTTCTAGGAGGGAG 0.562000 50 115 0 0 0.003610 0 0 FER1L5 90342 broad.mit.edu 37 2 97361226 97361226 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:97361226C>T ENST00000457909.1 + 0 3225 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 TTGTCCTGCCCTCCTTCTTTG 0.637000 3 3 0 0 0.004672 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688391 30688391 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:30688391G>A ENST00000215790.7 - 9 1664 c.1500C>T c.(1498-1500)tcC>tcT p.S500S RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.S507S|TBC1D10A_ENST00000403362.1_Silent_p.S412S NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 500 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CACTCTCTTGGGACGTCAAGC 0.587000 75 148 0 0 0.003610 0 0 OR52L1 338751 broad.mit.edu 37 11 6007616 6007616 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:6007616C>T ENST00000332249.4 - 1 599 c.545G>A c.(544-546)gGa>gAa p.G182E NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATAAGTTTTCCCAACAAAAT 0.493000 22 38 0 0 0.001882 0 0 PEX5 5830 broad.mit.edu 37 12 7362674 7362674 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:7362674C>T ENST00000266563.5 + 15 1847 c.1664C>T c.(1663-1665)cCc>cTc p.P555L PEX5_ENST00000412720.2_Missense_Mutation_p.P613L|PEX5_ENST00000420616.2_Missense_Mutation_p.P592L|PEX5_ENST00000266564.3_Missense_Mutation_p.P584L|PEX5_ENST00000455147.2_Missense_Mutation_p.P592L|PEX5_ENST00000434354.2_Missense_Mutation_p.P607L NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 592 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding p.P584L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 AGCCGGGGCCCCCGGGGTGAA 0.572000 9 17 0 0 0.000443 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75816846 75816846 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:75816846T>A ENST00000320460.4 + 4 755 c.747T>A c.(745-747)ttT>ttA p.F249L GLIPR1L2_ENST00000378692.3_Intron|GLIPR1L2_ENST00000550916.1_Intron|GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000441218.1_Intron NM_152436.2 NP_689649.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 0 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 ACACTAGTTTTTTATGGTCAT 0.289000 6 30 0 0 0.001168 0 0 FREM1 158326 broad.mit.edu 37 9 14859208 14859208 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:14859208G>A ENST00000380881.4 - 5 1419 c.604C>T c.(604-606)Cag>Tag p.Q202* FREM1_ENST00000422223.2_Nonsense_Mutation_p.Q202*|FREM1_ENST00000380880.3_Nonsense_Mutation_p.Q202* Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 202 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.Q202*(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CTGTGTGGCTGATCTCCACGA 0.517000 16 21 0 0 0.006122 0 0 TRPV6 55503 broad.mit.edu 37 7 142574331 142574331 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:142574331T>A ENST00000359396.3 - 6 837 c.592A>T c.(592-594)Aca>Tca p.T198S RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 198 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TGTAACACTGTGTTTCCTGGG 0.567000 33 62 0 0 0.005524 0 0 LOC284009 284009 broad.mit.edu 37 17 2317704 2317704 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:2317704G>A ENST00000571332.1 - 0 959 NR_028335.1 gcaaggaatggaactggacgg 0.517000 25 33 0 0 0.001061 0 0 SPINK5 11005 broad.mit.edu 37 5 147449948 147449948 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:147449948G>A ENST00000359874.3 + 3 217 c.144G>A c.(142-144)aaG>aaA p.K48K SPINK5_ENST00000398454.1_Silent_p.K48K|SPINK5_ENST00000256084.7_Silent_p.K48K NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 48 Kazal-like 1; atypical. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAGGATAAGAAATTTTTTC 0.323000 6 7 0 0 0.001984 0 0 COL11A1 1301 broad.mit.edu 37 1 103491503 103491503 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:103491503C>T ENST00000358392.2 - 6 1103 c.786G>A c.(784-786)aaG>aaA p.K262K COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Intron NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 262 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) AATTGGATTTCTTTTTCTGTA 0.338000 38 85 0 0 0.004289 0 0 OSCAR 126014 broad.mit.edu 37 19 54600214 54600214 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54600214C>T ENST00000284648.6 - 4 505 c.308G>A c.(307-309)cGa>cAa p.R103Q OSCAR_ENST00000358375.4_Missense_Mutation_p.R103Q|OSCAR_ENST00000391760.1_Silent_p.P45P|OSCAR_ENST00000391761.1_Missense_Mutation_p.R92Q|OSCAR_ENST00000359649.4_Missense_Mutation_p.R107Q|OSCAR_ENST00000356532.3_Missense_Mutation_p.R107Q|OSCAR_ENST00000351806.4_Missense_Mutation_p.R92Q Q8IYS5 OSCAR_HUMAN osteoclast associated, immunoglobulin-like receptor 103 Ig-like 1. extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GTCTGGCCTTCGGTAGCAGCA 0.632000 7 31 0 0 0.003080 0 0 TEX11 56159 broad.mit.edu 37 X 69849514 69849514 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:69849514C>T ENST00000395889.2 - 19 1755 c.1600G>A c.(1600-1602)Gag>Aag p.E534K TEX11_ENST00000344304.3_Missense_Mutation_p.E534K|TEX11_ENST00000374333.2_Missense_Mutation_p.E519K|TEX11_ENST00000374320.2_Missense_Mutation_p.E209K NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 534 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) GAACCTCTCTCTGCAACTAGA 0.328000 49 27 0 0 0.003610 0 0 ZEB1 6935 broad.mit.edu 37 10 31816025 31816025 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:31816025G>A ENST00000446923.2 + 9 3551 c.3160G>A c.(3160-3162)Gaa>Aaa p.E1054K ZEB1_ENST00000320985.10_Missense_Mutation_p.E1070K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1071K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E1050K|ZEB1_ENST00000542815.3_Missense_Mutation_p.E1003K NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 1070 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ggaggaggaggaagaagtgga 0.448000 3 3 0 0 0.004672 0 0 FAS 355 broad.mit.edu 37 10 90770295 90770295 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:90770295G>A ENST00000355740.2 + 5 663 c.e5-1 FAS_ENST00000355279.2_Splice_Site|FAS_ENST00000352159.4_Splice_Site|FAS_ENST00000357339.2_Splice_Site|FAS_ENST00000313771.5_Splice_Site NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TTTTTTTCTAGATGTGAACAT 0.348000 3 5 0 0 0.000248 0 0 DNAH8 1769 broad.mit.edu 37 6 38749134 38749134 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:38749134C>T ENST00000359357.3 + 14 1847 c.1593C>T c.(1591-1593)ccC>ccT p.P531P DNAH8_ENST00000441566.1_Silent_p.P531P|DNAH8_ENST00000449981.2_Silent_p.P748P dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TAAGTGAGCCCATCAATTATT 0.373000 8 29 0 0 0.000443 0 0 FAM200A 221786 broad.mit.edu 37 7 99145993 99145993 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:99145993G>A ENST00000449309.1 - 2 417 c.38C>T c.(37-39)cCa>cTa p.P13L NM_145111.3 NP_659802.1 Q8TCP9 F200A_HUMAN family with sequence similarity 200, member A 13 integral to membrane nucleic acid binding endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1) 11 GGTACCCCCTGGAGACAAATC 0.458000 36 70 0 0 0.001706 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616176 140616176 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140616176G>A ENST00000526308.1 + 0 2239 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GGCCCAGGCCGACTCCCTCAC 0.687000 16 66 0 0 0.004990 0 0 LTF 4057 broad.mit.edu 37 3 46496877 46496877 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:46496877G>A ENST00000231751.4 - 5 850 c.555C>T c.(553-555)ttC>ttT p.F185F LTF_ENST00000417439.1_Silent_p.F185F|LTF_ENST00000426532.2_Silent_p.F141F NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 185 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) ACAGGTTGGGGAACTGTCCTT 0.552000 22 35 0 0 0.002299 0 0 DNAH2 146754 broad.mit.edu 37 17 7695641 7695641 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:7695641G>A ENST00000572933.1 + 46 8585 c.7125G>A c.(7123-7125)aaG>aaA p.K2375K DNAH2_ENST00000389173.2_Silent_p.K2375K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2375 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGCTCCCTAAGAGTTGGCGCT 0.542000 36 27 0 0 0.002222 0 0 ALLC 55821 broad.mit.edu 37 2 3726125 3726125 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:3726125C>T ENST00000252505.3 + 4 314 c.152C>T c.(151-153)aCc>aTc p.T51I NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 70 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GGCTGGGAGACCAGGAGGAAA 0.483000 HNSCC(21;0.051) 14 20 0 0 0.002450 0 0 KIF19 124602 broad.mit.edu 37 17 72350632 72350632 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:72350632G>A ENST00000389916.4 + 18 2778 c.2640G>A c.(2638-2640)agG>agA p.R880R NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 880 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GCAAGAAAAGGGAGGAGTCGC 0.677000 5 12 0 0 0.001984 0 0 PHF12 57649 broad.mit.edu 37 17 27240100 27240100 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:27240100G>A ENST00000577226.1 - 9 1835 c.1489C>T c.(1489-1491)Ccc>Tcc p.P497S PHF12_ENST00000268756.3_Missense_Mutation_p.P497S|PHF12_ENST00000332830.4_Missense_Mutation_p.P497S|PHF12_ENST00000582655.1_5'UTR Q96QT6 PHF12_HUMAN PHD finger protein 12 497 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) ATCCCTGAGGGGCAGGACAAG 0.547000 32 41 0 0 0.003271 0 0 PTPN7 5778 broad.mit.edu 37 1 202128567 202128567 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:202128567C>T ENST00000309017.3 - 2 1052 c.279G>A c.(277-279)ctG>ctA p.L93L PTPN7_ENST00000308986.5_5'UTR|PTPN7_ENST00000367279.4_Silent_p.L27L|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000543735.1_5'UTR NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 0 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 GAGGCTCACTCAGCCATGAGG 0.647000 38 29 0 0 0.004878 0 0 MYH13 8735 broad.mit.edu 37 17 10267752 10267752 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:10267752G>A ENST00000418404.3 - 2 259 c.96C>T c.(94-96)ttC>ttT p.F32F MYH13_ENST00000252172.4_Silent_p.F32F|MYH13_ENST00000570743.1_Silent_p.F32F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 32 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCTTGGAATCGAATGGACGAT 0.463000 12 16 0 0 0.002450 0 0 DHX29 54505 broad.mit.edu 37 5 54557275 54557275 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:54557275G>A ENST00000251636.5 - 25 4029 c.3881C>T c.(3880-3882)cCa>cTa p.P1294L RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 1294 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) AAGTAAAACTGGAAAAGGGGT 0.353000 19 78 0 0 0.002299 0 0 LST3 0 broad.mit.edu 37 12 21205068 21205068 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:21205068C>T ENST00000381541.3 + 10 1435 c.1370C>T c.(1369-1371)tCt>tTt p.S457F SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S457F|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.S410F|SLCO1B3_ENST00000553473.1_Intron GTACCACTTTCTTATTGCAAC 0.368000 4 3 0 0 0.000248 0 0 TTN 7273 broad.mit.edu 37 2 179577159 179577159 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179577159C>T ENST00000589042.1 - 95 27714 c.27490G>A c.(27490-27492)Gaa>Aaa p.E9164K TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8847K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7920K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8847 Ig-like 74. 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) GCCGATTTTTCAGTCGTAGTT 0.423000 14 31 0 0 0.001855 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715781 13715781 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:13715781G>A ENST00000279593.3 - 13 4600 c.4391C>T c.(4390-4392)gCt>gTt p.A1464V NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1464 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCATTGAAAGCCCTGGGGTT 0.522000 51 68 0 0 0.003610 0 0 ARHGAP6 395 broad.mit.edu 37 X 11204449 11204449 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:11204449C>T ENST00000337414.4 - 5 2052 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E191K|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.E426K|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E219K|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E191K|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.E394K|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.E203K NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 394 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CTGGCTTTTTCCTTTTTACTT 0.438000 53 23 0 0 0.003610 0 0 CACNG2 10369 broad.mit.edu 37 22 36960624 36960624 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:36960624G>A ENST00000300105.6 - 4 1727 c.746C>T c.(745-747)tCc>tTc p.S249F NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 249 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 GGCGTCCCTGGAGTGTGAGGG 0.682000 40 70 0 0 0.002852 0 0 ENAM 10117 broad.mit.edu 37 4 71507864 71507864 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:71507864G>A ENST00000396073.3 + 9 1002 c.721G>A c.(721-723)Gaa>Aaa p.E241K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 241 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TCCAGGCACAGAACCCACAGC 0.448000 62 42 0 0 0.003610 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927395 92927395 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:92927395A>G ENST00000373079.3 - 1 1172 c.909T>C c.(907-909)ccT>ccC p.P303P NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 303 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 CTTCTCTTTTAGGCTTTCCCT 0.438000 28 20 0 0 0.001061 0 0 CILP2 148113 broad.mit.edu 37 19 19654632 19654632 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:19654632C>T ENST00000586018.1 + 8 1398 c.1296C>T c.(1294-1296)tcC>tcT p.S432S CILP2_ENST00000291495.4_Silent_p.S426S Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 426 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 TGGCAGGCTCCAGCCCCCGCT 0.672000 9 35 0 0 0.004482 0 0 OR10R2 343406 broad.mit.edu 37 1 158450082 158450082 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158450082G>A ENST00000368152.1 + 1 415 c.415G>A c.(415-417)Ggt>Agt p.G139S RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) GGGTGTGATGGGTTATGATCG 0.488000 38 148 0 0 0.002522 0 0 FREM2 341640 broad.mit.edu 37 13 39264404 39264404 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:39264404G>A ENST00000280481.7 + 1 3139 c.2923G>A c.(2923-2925)Gaa>Aaa p.E975K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 975 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GACCAATGAGGAAACTGATGA 0.443000 8 67 0 0 0.004482 0 0 HK3 3101 broad.mit.edu 37 5 176309021 176309021 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:176309021C>T ENST00000292432.5 - 16 2252 c.2161G>A c.(2161-2163)Gat>Aat p.D721N NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 721 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAGAGCCATCGTCCCCAAAG 0.642000 7 61 0 0 0.001984 0 0 ROBO1 6091 broad.mit.edu 37 3 79639024 79639024 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:79639024G>A ENST00000464233.1 - 2 151 c.38C>T c.(37-39)tCa>tTa p.S13L NM_002941.3 NP_002932.1 Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 13 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GCTGAGGAGTGATATCATGAC 0.413000 5 12 0 0 0.001168 0 0 KCNH7 90134 broad.mit.edu 37 2 163236489 163236489 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:163236489G>A ENST00000332142.5 - 14 3104 c.3005C>T c.(3004-3006)cCc>cTc p.P1002L NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 1002 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTCAGGCTGGGGATGTGCATT 0.493000 35 46 0 0 0.005524 0 0 NCOA1 8648 broad.mit.edu 37 2 24929502 24929502 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:24929502C>T ENST00000405141.1 + 14 1874 c.1163C>T c.(1162-1164)cCc>cTc p.P388L NCOA1_ENST00000395856.3_Missense_Mutation_p.P388L|NCOA1_ENST00000406961.1_Missense_Mutation_p.P388L|NCOA1_ENST00000407230.1_Missense_Mutation_p.P237L|NCOA1_ENST00000348332.3_Missense_Mutation_p.P388L|NCOA1_ENST00000538539.1_Missense_Mutation_p.P388L|NCOA1_ENST00000288599.5_Missense_Mutation_p.P388L Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 388 Interaction with STAT3. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGAGTAAATCCCTCGGTCAAT 0.463000 T PAX3 alveolar rhadomyosarcoma 12 41 0 0 0.003163 0 0 ATXN2 6311 broad.mit.edu 37 12 111895157 111895157 + Missense_Mutation SNP G G C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:111895157G>C ENST00000377617.3 - 22 3538 c.3377C>G c.(3376-3378)aCg>aGg p.T1126R ATXN2_ENST00000542287.2_Missense_Mutation_p.T861R|ATXN2_ENST00000535949.1_Missense_Mutation_p.T819R|ATXN2_ENST00000389153.4_Missense_Mutation_p.T863R|ATXN2_ENST00000550104.1_3'UTR NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1126 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 AAGGGAGCCCGTGGAAACTAA 0.512000 12 43 0 0 0.002450 0 0 MX1 4599 broad.mit.edu 37 21 42824749 42824749 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:42824749G>A ENST00000398600.2 + 18 2736 c.1711G>A c.(1711-1713)Gac>Aac p.D571N MX1_ENST00000398598.3_Missense_Mutation_p.D571N|MX1_ENST00000288383.6_Missense_Mutation_p.D548N|MX1_ENST00000455164.2_Missense_Mutation_p.D571N NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 571 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) CTCGGCAACAGACTCTTCCAT 0.498000 10 182 0 0 0.000978 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140857375 140857375 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140857375C>T ENST00000308177.3 + 1 1796 c.1692C>T c.(1690-1692)gcC>gcT p.A564A PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGACAATGCCCCCCAGGTCC 0.572000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 24 0 0 0.001216 0 0 ANAPC1 64682 broad.mit.edu 37 2 112621464 112621464 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:112621464A>T ENST00000341068.3 - 9 1612 c.840T>A c.(838-840)aaT>aaA p.N280K NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 280 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TTAAAACAACATTCTCTTCCT 0.393000 18 14 0 0 0.006122 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228399 140228399 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140228399G>A ENST00000378122.3 + 1 1043 c.319G>A c.(319-321)Gag>Aag p.E107K PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E107K|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCACCTGGAGGTGATCGT 0.547000 18 137 0 0 0.000958 0 0 MED13 9969 broad.mit.edu 37 17 60030366 60030366 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:60030366G>A ENST00000397786.2 - 27 6153 c.6077C>T c.(6076-6078)tCt>tTt p.S2026F NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2026 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AGATCCTGGAGAATGTACAGG 0.458000 47 86 0 0 0.003610 0 0 PATL1 219988 broad.mit.edu 37 11 59423511 59423511 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:59423511G>A ENST00000300146.9 - 7 815 c.731C>T c.(730-732)tCc>tTc p.S244F NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 244 Pro-rich.|Region N; interaction with decapping machinery. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 ACCCAGGAGGGAAGAGTTCTA 0.428000 5 2 0 0 0.001168 0 0 TMEM37 140738 broad.mit.edu 37 2 120194569 120194569 + Silent SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:120194569G>T ENST00000306406.4 + 2 161 c.126G>T c.(124-126)tcG>tcT p.S42S TMEM37_ENST00000409826.1_Silent_p.S54S|TMEM37_ENST00000465296.1_3'UTR NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 42 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 TCCTGTCCTCGGTCTCCATTT 0.607000 5 100 0.00307968 0.00636781 0.003080 1 0 PCDHA6 56142 broad.mit.edu 37 5 140207705 140207705 + Missense_Mutation SNP G G A rs17844300 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140207705G>A ENST00000529310.1 + 1 143 c.29G>A c.(28-30)gGa>gAa p.G10E PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G10E|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATAGATTGGGAAAGCAATGT 0.512000 25 135 0 0 0.001061 0 0 EHD1 10938 broad.mit.edu 37 11 64621904 64621904 + Silent SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:64621904C>A ENST00000320631.3 - 5 1760 c.1506G>T c.(1504-1506)gcG>gcT p.A502A EHD1_ENST00000359393.2_Silent_p.A502A|EHD1_ENST00000488711.1_5'UTR NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 502 EF-hand.|EH. blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 GGTTGGCCAGCGCGAACTCCT 0.637000 9 25 2.74318e-10 5.72705e-10 0.000443 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147926772 147926772 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:147926772C>T ENST00000361727.3 + 20 3798 c.3282C>T c.(3280-3282)acC>acT p.T1094T CNTNAP2_ENST00000538075.1_Silent_p.T153T NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1094 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGGGTGGCACCCGAGAGCCAT 0.453000 HNSCC(39;0.1) 17 27 0 0 0.004990 0 0 CARD11 84433 broad.mit.edu 37 7 2959017 2959017 + Silent SNP G G A rs150171618 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:2959017G>A ENST00000396946.4 - 18 2902 c.2499C>T c.(2497-2499)ccC>ccT p.P833P NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 833 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGCTGTAGCTGGGTATGGTGC 0.612000 Mis DLBCL 26 41 0 0 0.001271 0 0 POLDIP3 84271 broad.mit.edu 37 22 42988046 42988046 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:42988046G>A ENST00000252115.5 - 7 1040 c.936C>T c.(934-936)gtC>gtT p.V312V POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Silent_p.V283V|POLDIP3_ENST00000451060.2_Silent_p.V156V|POLDIP3_ENST00000339677.6_Intron NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 312 RRM. positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 CCCCAGGATGGACCAGTCGAG 0.542000 35 91 0 0 0.001706 0 0 SORCS2 57537 broad.mit.edu 37 4 7725580 7725580 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:7725580G>A ENST00000507866.2 + 19 2690 c.2581G>A c.(2581-2583)Gat>Aat p.D861N SORCS2_ENST00000329016.9_Missense_Mutation_p.D689N NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 861 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 GGCAGGCCACGATGAGGCGGT 0.587000 20 51 0 0 0.001882 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756535 94756535 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:94756535G>A ENST00000554723.1 - 2 934 c.516C>T c.(514-516)gcC>gcT p.A172A SERPINA10_ENST00000554173.1_Silent_p.A132A|SERPINA10_ENST00000393096.1_Silent_p.A132A|SERPINA10_ENST00000261994.4_Silent_p.A132A Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 132 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TGGGCTTCAGGGCCTGCAAGT 0.597000 33 39 0 0 0.003755 0 0 RYR1 6261 broad.mit.edu 37 19 38959762 38959762 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:38959762G>A ENST00000355481.4 + 26 3669 c.3538G>A c.(3538-3540)Gag>Aag p.E1180K RYR1_ENST00000359596.3_Missense_Mutation_p.E1180K|RYR1_ENST00000360985.3_Missense_Mutation_p.E1180K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1180 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCCTTCCGGGAGATTGAGAT 0.542000 17 46 0 0 0.001882 0 0 MAPK13 5603 broad.mit.edu 37 6 36106731 36106731 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:36106731C>T ENST00000211287.4 + 11 1179 c.917C>T c.(916-918)cCc>cTc p.P306L MAPK13_ENST00000373766.5_Silent_p.S255S|MAPK13_ENST00000373761.6_Missense_Mutation_p.P296L|MAPK13_ENST00000373759.1_3'UTR NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 306 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 CTCACCCATCCCTTCTTTGAA 0.597000 18 31 0 0 0.000958 0 0 PASD1 139135 broad.mit.edu 37 X 150840952 150840952 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:150840952G>A ENST00000370357.4 + 14 1980 c.1735G>A c.(1735-1737)Ggg>Agg p.G579R NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 579 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TGTCATCGTGGGGAATGAGAG 0.537000 27 10 0 0 0.001271 0 0 MASP1 5648 broad.mit.edu 37 3 186965150 186965150 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:186965150C>T ENST00000169293.6 - 9 1438 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000296280.6_Intron|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.E346K NM_001031849.2 NP_001027019.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 372 Sushi 2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GACTTGAGTTCGCTCTCCAGA 0.507000 26 52 0 0 0.002445 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110456087 110456087 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:110456087A>G ENST00000378402.5 + 37 4851 c.4747A>G c.(4747-4749)Aca>Gca p.T1583A NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1583 IPT/TIG 8. 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) TGAACTAATAACAATTATTGG 0.313000 HNSCC(38;0.096) 19 47 0 0 0.001882 0 0 SUN1 23353 broad.mit.edu 37 7 895996 895996 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:895996C>T ENST00000456758.2 + 18 1919 c.1917_splice c.e18-1 p.A640_splice SUN1_ENST00000425407.2_Splice_Site_p.A368_splice|SUN1_ENST00000413514.2_Splice_Site_p.A249_splice|SUN1_ENST00000401592.1_Splice_Site_p.A451_splice|SUN1_ENST00000452783.2_Splice_Site_p.A348_splice|SUN1_ENST00000389574.3_Splice_Site_p.A368_splice|SUN1_ENST00000405266.1_Splice_Site_p.A488_splice O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 478 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding p.A368V(1)|p.A451V(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACTTTTTAGGCCATCCAGAAG 0.348000 20 55 0 0 0.001882 0 0 APOBEC1 339 broad.mit.edu 37 12 7805421 7805421 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:7805421C>T ENST00000229304.4 - 3 75 c.55G>A c.(55-57)Gaa>Aaa p.E19K NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 19 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 TCCCAGGGTTCGATTCTTCTC 0.453000 33 46 0 0 0.004878 0 0 DMBX1 127343 broad.mit.edu 37 1 46976841 46976841 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:46976841G>A ENST00000371956.4 + 3 598 c.583G>A c.(583-585)Gat>Aat p.D195N DMBX1_ENST00000360032.3_Missense_Mutation_p.D190N NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 195 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) AGCCCCCGAGGATCAGCCGGA 0.672000 13 28 0 0 0.003163 0 0 PRDM5 11107 broad.mit.edu 37 4 121631568 121631568 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:121631568C>T ENST00000264808.3 - 15 1864 c.1623_splice c.e15-1 p.E542_splice PRDM5_ENST00000428209.2_Splice_Site_p.E511_splice|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_Splice_Site_p.G482_splice NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 542 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TACGGCTTCTCCTGCAGTCAA 0.493000 6 3 0 0 0.001984 0 0 POLDIP3 84271 broad.mit.edu 37 22 42988045 42988045 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:42988045G>A ENST00000252115.5 - 7 1041 c.937C>T c.(937-939)Cat>Tat p.H313Y POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.H284Y|POLDIP3_ENST00000451060.2_Missense_Mutation_p.H157Y|POLDIP3_ENST00000339677.6_Intron NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 313 RRM. positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 ACCCCAGGATGGACCAGTCGA 0.537000 34 92 0 0 0.001485 0 0 EXD3 54932 broad.mit.edu 37 9 140267934 140267934 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:140267934T>A ENST00000340951.4 - 4 433 c.238A>T c.(238-240)Atc>Ttc p.I80F EXD3_ENST00000479452.1_Missense_Mutation_p.I80F|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 80 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 TGGTGGGAGATCCAGGCCGCC 0.697000 7 6 0 0 0.001984 0 0 RREB1 6239 broad.mit.edu 37 6 7211126 7211126 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:7211126G>A ENST00000379938.2 + 7 1052 c.515G>A c.(514-516)aGg>aAg p.R172K RREB1_ENST00000349384.6_Missense_Mutation_p.R172K|RREB1_ENST00000334984.6_Missense_Mutation_p.R172K|RREB1_ENST00000379933.3_Missense_Mutation_p.R172K NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 172 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TCCTCCAAGAGGAAACTGAGT 0.522000 19 90 0 0 0.001523 0 0 CTNNA3 29119 broad.mit.edu 37 10 68381523 68381523 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:68381523G>A ENST00000433211.1 - 10 1475 c.1301C>T c.(1300-1302)tCc>tTc p.S434F CTNNA3_ENST00000373744.4_Missense_Mutation_p.S434F NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 434 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TGTTGACATGGAACAAGCAAG 0.328000 6 21 0 0 0.004482 0 0 HHIPL2 79802 broad.mit.edu 37 1 222712020 222712020 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:222712020C>T ENST00000343410.6 - 5 1605 c.1547G>A c.(1546-1548)gGc>gAc p.G516D NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 516 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding p.G516D(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GATATACAGGCCATTGAGATT 0.408000 87 369 0 0 0.003610 0 0 ZNF536 9745 broad.mit.edu 37 19 30934619 30934619 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:30934619C>T ENST00000355537.3 + 2 297 c.150C>T c.(148-150)ctC>ctT p.L50L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TCCCCGAGCTCCATCCCCGGC 0.672000 11 49 0 0 0.001368 0 0 POPDC2 64091 broad.mit.edu 37 3 119379156 119379156 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:119379156G>A ENST00000493094.1 - 1 574 c.115C>T c.(115-117)Ctg>Ttg p.L39L POPDC2_ENST00000264231.3_Silent_p.L39L|POPDC2_ENST00000468801.1_Silent_p.L39L|POPDC2_ENST00000538678.1_Silent_p.L39L|POPDC2_ENST00000474523.1_Intron Q9HBU9 POPD2_HUMAN popeye domain containing 2 39 integral to membrane breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.242) ATGAAGCCCAGGAGTAAGAGG 0.572000 9 31 0 0 0.000673 0 0 FAM178A 55719 broad.mit.edu 37 10 102683838 102683838 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:102683838C>T ENST00000238961.3 + 5 1228 c.1080C>T c.(1078-1080)ttC>ttT p.F360F FAM178A_ENST00000370269.3_Silent_p.F360F|FAM178A_ENST00000370271.3_Silent_p.F360F NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 360 GAGAGTCCTTCCTTGAGAAGC 0.383000 10 22 0 0 0.000673 0 0 SLC27A6 28965 broad.mit.edu 37 5 128320887 128320887 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:128320887G>A ENST00000262462.4 + 2 1553 c.543G>A c.(541-543)ggG>ggA p.G181G SLC27A6_ENST00000395266.1_Silent_p.G181G|SLC27A6_ENST00000506176.1_Silent_p.G181G Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 181 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GTGTTTGGGGGATGAAAGATT 0.453000 13 17 0 0 0.002450 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33637813 33637813 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:33637813T>G ENST00000504830.1 - 12 2092 c.1757A>C c.(1756-1758)aAa>aCa p.K586T ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K586T NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 586 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCGATAGCGTTTTCTTTCTCC 0.448000 HNSCC(64;0.19) 4 24 0 0 0.000248 0 0 SNHG14 104472715 broad.mit.edu 37 15 25468303 25468303 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:25468303C>T ENST00000453082.2 + 0 851 NR_003343.1 AGCTCCAGCCCTTCCTGGCGC 0.587000 17 21 0 0 0.004007 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593786 16593786 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:16593786G>A ENST00000443444.2 + 1 212 c.72G>A c.(70-72)agG>agA p.R24R CCDC144A_ENST00000456009.1_Silent_p.R24R|CCDC144A_ENST00000360524.8_Silent_p.R24R|CCDC144A_ENST00000340621.5_Silent_p.R24R|RP11-219A15.1_ENST00000448331.3_Silent_p.R24R|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Silent_p.R24R A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 24 ACGCCACGAGGAAGACCCCTA 0.657000 13 12 0 0 0.001855 0 0 OR11H4 390442 broad.mit.edu 37 14 20711058 20711058 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:20711058C>T ENST00000315409.2 + 1 161 c.108C>T c.(106-108)ttC>ttT p.F36F NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) TTCAGATTTTCCTCTTCTCAT 0.443000 4 30 0 0 0.000248 0 0 PARP11 57097 broad.mit.edu 37 12 3931093 3931093 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:3931093C>T ENST00000228820.4 - 6 638 c.494G>A c.(493-495)cGa>cAa p.R165Q PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.R158Q|PARP11_ENST00000427057.2_Missense_Mutation_p.R84Q|PARP11_ENST00000447133.3_Missense_Mutation_p.R84Q NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 158 PARP catalytic. NAD+ ADP-ribosyltransferase activity p.R158Q(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) TCTTTTAATTCGGTTGCGATC 0.348000 39 48 0 0 0.001287 0 0 CNOT3 4849 broad.mit.edu 37 19 54649503 54649503 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54649503A>T ENST00000406403.1 + 7 2256 c.653A>T c.(652-654)gAc>gTc p.D218V CNOT3_ENST00000221232.5_Missense_Mutation_p.D218V|CNOT3_ENST00000358389.3_Missense_Mutation_p.D37V O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 218 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAGGACCCCGACTTCGAGGAG 0.567000 13 38 0 0 0.004007 0 0 GALNT16 57452 broad.mit.edu 37 14 69814766 69814766 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:69814766C>T ENST00000553669.1 + 14 1586 c.1586C>T c.(1585-1587)cCa>cTa p.P529L GALNT16_ENST00000448469.3_Intron|GALNT16_ENST00000337827.4_Intron UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 CCCGAGGGGCCATGCCTCAGG 0.597000 11 8 0 0 0.000978 0 0 DAB1 1600 broad.mit.edu 37 1 57480751 57480751 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:57480751C>T ENST00000371236.2 - 12 1512 c.1249G>A c.(1249-1251)Gat>Aat p.D417N DAB1_ENST00000420954.2_Missense_Mutation_p.D415N|DAB1_ENST00000371231.1_Missense_Mutation_p.D450N|DAB1_ENST00000414851.2_Missense_Mutation_p.D399N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.D417N|DAB1_ENST00000439789.2_Missense_Mutation_p.D331N O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 450 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 ATCTGGAAATCCTTAAACGTT 0.592000 20 51 0 0 0.001216 0 0 KIAA0753 9851 broad.mit.edu 37 17 6493149 6493149 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:6493149G>A ENST00000361413.3 - 18 3094 c.2736C>T c.(2734-2736)atC>atT p.I912I KIAA0753_ENST00000572370.1_Silent_p.I613I|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Silent_p.I613I|KIAA0753_ENST00000589033.1_Silent_p.I368I NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 912 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) CATGAGATATGATCCGAAGGT 0.473000 19 15 0 0 0.001523 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943122 12943122 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:12943122C>T ENST00000235349.5 - 2 164 c.94G>A c.(94-96)Gag>Aag p.E32K NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 32 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGGGCAGCTCCTCCAGGGTG 0.602000 6 80 0 0 0.001984 0 0 ADD2 119 broad.mit.edu 37 2 70906010 70906010 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:70906010C>T ENST00000264436.3 - 11 1653 c.1209G>A c.(1207-1209)acG>acA p.T403T ADD2_ENST00000413157.2_Silent_p.T403T|ADD2_ENST00000407644.2_Silent_p.T403T|ADD2_ENST00000355733.3_Silent_p.T403T|ADD2_ENST00000430656.1_Silent_p.T419T NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 403 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding p.T403T(2)|p.T419T(1) autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 AGGCTGTGACCGTGGCTGGAA 0.542000 26 77 0 0 0.001786 0 0 SLC5A5 6528 broad.mit.edu 37 19 18004596 18004596 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:18004596C>T ENST00000222248.3 + 15 2189 c.1842C>T c.(1840-1842)ttC>ttT p.F614F NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 614 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GTCTGTTTTTCTTGGGGCAGA 0.577000 5 8 0 0 0.000602 0 0 GDF3 9573 broad.mit.edu 37 12 7848100 7848100 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:7848100C>T ENST00000329913.3 - 1 272 c.225G>A c.(223-225)gaG>gaA p.E75E NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 75 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGACGCCCAGCTCCTTTACGT 0.493000 38 46 0 0 0.004878 0 0 NOD1 10392 broad.mit.edu 37 7 30492007 30492007 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:30492007G>A ENST00000222823.4 - 6 1551 c.1026C>T c.(1024-1026)ttC>ttT p.F342F NOD1_ENST00000423334.2_3'UTR NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 342 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 TCTTCCGCAGGAACTGGCGCG 0.672000 27 43 0 0 0.001512 0 0 MYPOP 339344 broad.mit.edu 37 19 46393958 46393958 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:46393958G>A ENST00000322217.5 - 3 1209 c.1123C>T c.(1123-1125)Ccg>Tcg p.P375S NM_001012643.2 NP_001012661.1 Q86VE0 MYPOP_HUMAN Myb-related transcription factor, partner of profilin 375 Pro-rich. nucleus DNA binding large_intestine(2)|lung(1)|skin(1) 4 GAGTCGTGCGGAGGGAGCGGG 0.647000 4 15 0 0 0.000602 0 0 NR1I3 9970 broad.mit.edu 37 1 161203020 161203020 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:161203020G>T ENST00000367983.4 - 4 641 c.347C>A c.(346-348)aCa>aAa p.T116K NR1I3_ENST00000367984.4_Missense_Mutation_p.T116K|NR1I3_ENST00000367985.3_Missense_Mutation_p.T116K|NR1I3_ENST00000428574.2_Missense_Mutation_p.T116K|NR1I3_ENST00000515621.1_Missense_Mutation_p.T41K|NR1I3_ENST00000442691.2_Missense_Mutation_p.T116K|NR1I3_ENST00000367980.2_Missense_Mutation_p.T116K|NR1I3_ENST00000367981.3_Missense_Mutation_p.T87K|NR1I3_ENST00000515452.1_Missense_Mutation_p.T116K|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367982.4_Missense_Mutation_p.T116K|NR1I3_ENST00000412844.2_Missense_Mutation_p.T87K|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000506209.1_Missense_Mutation_p.T87K|NR1I3_ENST00000504010.1_Missense_Mutation_p.T87K|NR1I3_ENST00000511676.1_Missense_Mutation_p.T87K|NR1I3_ENST00000367979.2_Missense_Mutation_p.T116K|NR1I3_ENST00000512372.1_Missense_Mutation_p.T87K|NR1I3_ENST00000508740.1_Missense_Mutation_p.T87K|NR1I3_ENST00000437437.2_Missense_Mutation_p.T87K|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000505005.1_Missense_Mutation_p.T116K Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 116 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCCCAGGAGTGTCCGGATCAG 0.567000 30 157 1.75199e-13 3.67064e-13 0.001271 1 0 TTC3 7267 broad.mit.edu 37 21 38525433 38525433 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:38525433C>T ENST00000399017.2 + 27 5343 c.2596C>T c.(2596-2598)Cta>Tta p.L866L TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.L866L|TTC3_ENST00000354749.2_Silent_p.L866L|TTC3_ENST00000540756.1_Silent_p.L556L NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 866 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CAGAAATTTTCTAAATGAAGC 0.353000 38 99 0 0 0.005524 0 0 PUS7L 83448 broad.mit.edu 37 12 44148981 44148981 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:44148981A>T ENST00000416848.2 - 2 556 c.68T>A c.(67-69)tTt>tAt p.F23Y PUS7L_ENST00000551923.1_Missense_Mutation_p.F23Y|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.F23Y|PUS7L_ENST00000553166.1_Missense_Mutation_p.F23Y NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 23 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) AGTGCCATGAAATCCAACGTG 0.328000 18 24 0 0 0.004990 0 0 PCYT2 5833 broad.mit.edu 37 17 79864690 79864690 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:79864690C>T ENST00000538936.2 - 7 730 c.622G>A c.(622-624)Gag>Aag p.E208K PCYT2_ENST00000570391.1_Missense_Mutation_p.E176K|PCYT2_ENST00000538721.2_Missense_Mutation_p.E226K|PCYT2_ENST00000331285.3_Missense_Mutation_p.E130K|PCYT2_ENST00000571105.1_Missense_Mutation_p.E208K|PCYT2_ENST00000570388.1_Missense_Mutation_p.E130K NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 208 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGCTGGGGCTCCTTCCCAGAA 0.597000 19 42 0 0 0.000958 0 0 ACSM2B 348158 broad.mit.edu 37 16 20563612 20563612 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:20563612C>T ENST00000329697.6 - 6 916 c.748G>A c.(748-750)Ggc>Agc p.G250S ACSM2B_ENST00000567001.1_Missense_Mutation_p.G250S|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G250S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G171S NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 250 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.G250C(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GCTTGCAGGCCTGTCCAACTG 0.473000 18 46 0 0 0.002780 0 0 TNN 63923 broad.mit.edu 37 1 175096176 175096176 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:175096176C>T ENST00000239462.4 + 13 3113 c.3000C>T c.(2998-3000)atC>atT p.I1000I NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1000 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTGCTCAGATCCACGGCTACA 0.517000 53 59 0 0 0.003610 0 0 FASN 2194 broad.mit.edu 37 17 80039891 80039891 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:80039891G>A ENST00000306749.2 - 36 6375 c.6157C>T c.(6157-6159)Ctc>Ttc p.L2053F FASN_ENST00000579758.1_Intron NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 2053 Beta-ketoacyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CCACCTGGGAGGCCTTCGTGC 0.682000 10 21 0 0 0.000978 0 0 CYP2A7 1549 broad.mit.edu 37 19 41386441 41386441 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:41386441C>T ENST00000301146.4 - 3 977 c.436G>A c.(436-438)Gag>Aag p.E146K CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.E95K NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 146 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ATGCGCTCCTCGATGCCTCGC 0.662000 25 23 0 0 0.001061 0 0 CHRNB4 1143 broad.mit.edu 37 15 78923654 78923654 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:78923654C>T ENST00000261751.3 - 3 336 c.225G>A c.(223-225)atG>atA p.M75I CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.M75I NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 75 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CATTGGTGGTCATGATCTGCT 0.532000 45 87 0 0 0.003610 0 0 TTC7B 145567 broad.mit.edu 37 14 91007921 91007921 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:91007921G>A ENST00000357056.2 - 21 2495 c.2374C>T c.(2374-2376)Cac>Tac p.H792Y TTC7B_ENST00000328459.6_Missense_Mutation_p.H775Y|TTC7B_ENST00000554654.1_5'UTR Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 775 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) CCTAGCTGGTGAAGGATCAGG 0.602000 6 20 0 0 0.001168 0 0 CASKIN2 57513 broad.mit.edu 37 17 73500746 73500746 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:73500746C>T ENST00000321617.3 - 12 1807 c.1221G>A c.(1219-1221)gaG>gaA p.E407E CASKIN2_ENST00000433559.2_Silent_p.E325E NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 407 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCACGCTGCCCTCACTGCCCA 0.637000 6 3 0 0 0.001168 0 0 HDAC6 10013 broad.mit.edu 37 X 48681152 48681152 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:48681152C>T ENST00000334136.5 + 24 2638 c.2460C>T c.(2458-2460)atC>atT p.I820I HDAC6_ENST00000376619.2_Silent_p.I820I|HDAC6_ENST00000444343.2_Silent_p.I834I Q9UBN7 HDAC6_HUMAN histone deacetylase 6 820 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) TGGCCTCAATCACTGAGACCA 0.627000 20 9 0 0 0.001216 0 0 ZBTB38 253461 broad.mit.edu 37 3 141161981 141161981 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:141161981G>A ENST00000514251.1 + 4 1030 c.751G>A c.(751-753)Gaa>Aaa p.E251K ZBTB38_ENST00000321464.5_Missense_Mutation_p.E252K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E251K Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 251 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 CACAGGGAAAGAAAATTGTGA 0.478000 13 26 0 0 0.001368 0 0 PDE8B 8622 broad.mit.edu 37 5 76721606 76721606 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:76721606G>A ENST00000264917.5 + 21 2478 c.2433G>A c.(2431-2433)aaG>aaA p.K811K PDE8B_ENST00000333194.4_Silent_p.K756K|PDE8B_ENST00000505283.1_Silent_p.K276K|PDE8B_ENST00000340978.3_Silent_p.K764K|PDE8B_ENST00000346042.3_Silent_p.K714K|PDE8B_ENST00000342343.4_Silent_p.K791K NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 811 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) ATGAAGAGAAGAGACAGGGAC 0.448000 16 194 0 0 0.004007 0 0 SPARCL1 8404 broad.mit.edu 37 4 88400633 88400633 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:88400633C>T ENST00000418378.1 - 11 2486 c.1915G>A c.(1915-1917)Gat>Aat p.D639N SPARCL1_ENST00000282470.6_Missense_Mutation_p.D639N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D514N NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 639 EF-hand. signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) ATGTGCTTATCCTTGTTGGGG 0.483000 38 38 0 0 0.001287 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22853738 22853738 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:22853738C>T ENST00000283645.4 + 12 1506 c.1376C>T c.(1375-1377)tCc>tTc p.S459F TUBGCP5_ENST00000453949.2_Missense_Mutation_p.S459F|TUBGCP5_ENST00000559846.1_3'UTR NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 459 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CCTCAGGTCTCCCTCCTTTTC 0.542000 4 20 0 0 0.000248 0 0 FAM134A 79137 broad.mit.edu 37 2 220046990 220046990 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:220046990G>A ENST00000430297.2 + 9 1407 c.1271G>A c.(1270-1272)tGc>tAc p.C424Y NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 424 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGTGAAATGCTCCCCTGGA 0.597000 28 67 0 0 0.001061 0 0 NCR2 9436 broad.mit.edu 37 6 41304152 41304152 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:41304152T>A ENST00000373083.4 + 2 602 c.380T>A c.(379-381)cTg>cAg p.L127Q NCR2_ENST00000373089.5_Missense_Mutation_p.L127Q|NCR2_ENST00000373086.3_Missense_Mutation_p.L127Q NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 127 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) AGATTCTATCTGGTGGTATCT 0.532000 23 35 0 0 0.004656 0 0 OR51E2 81285 broad.mit.edu 37 11 4703715 4703715 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:4703715G>A ENST00000396950.3 - 2 466 c.227C>T c.(226-228)aCc>aTc p.T76I NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CTTAGGCATGGTGGATGTGGA 0.502000 28 34 0 0 0.002096 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229977 8229977 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:8229977G>A ENST00000539824.1 + 12 2702 c.2328G>A c.(2326-2328)cgG>cgA p.R776R SH3TC1_ENST00000245105.3_Silent_p.R852R Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 852 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 AGTCTGTCCGGGATGCAGTGG 0.677000 19 53 0 0 0.001216 0 0 OR51B4 79339 broad.mit.edu 37 11 5322336 5322336 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:5322336G>A ENST00000380224.1 - 1 890 c.841C>T c.(841-843)Cct>Tct p.P281S HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACGAATGGAGGAAAGAGAAAA 0.428000 4 30 0 0 0.000602 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838494 155838494 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:155838494G>A ENST00000490337.1 + 1 158 c.94G>A c.(94-96)Gac>Aac p.D32N KCNAB1_ENST00000389636.5_Missense_Mutation_p.D32N NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 32 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AGCAGGGAAAGACAAATCTCC 0.567000 46 70 0 0 0.002522 0 0 SYTL4 94121 broad.mit.edu 37 X 99942168 99942168 + Silent SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:99942168A>T ENST00000455616.1 - 12 1426 c.1080T>A c.(1078-1080)atT>atA p.I360I SYTL4_ENST00000276141.6_Silent_p.I360I|SYTL4_ENST00000454200.2_Silent_p.I362I|SYTL4_ENST00000263033.5_Silent_p.I360I|SYTL4_ENST00000372989.1_Silent_p.I360I|SYTL4_ENST00000372981.1_3'UTR Q96C24 SYTL4_HUMAN synaptotagmin-like 4 360 C2 1. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGGAAAAGGCAATCCTGCCAG 0.498000 35 13 0 0 0.005524 0 0 OR5P2 120065 broad.mit.edu 37 11 7818001 7818001 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:7818001G>A ENST00000329434.2 - 1 519 c.489C>T c.(487-489)ctC>ctT p.L163L RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTCCACAGAAGAGTAAAAAAT 0.393000 16 32 0 0 0.004990 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27537809 27537809 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:27537809G>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA AGGTGCCATGGTAGGTGTTGG 0.463000 25 71 0 0 0.003954 0 0 TDRD9 122402 broad.mit.edu 37 14 104491924 104491924 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:104491924G>A ENST00000409874.4 + 26 2790 c.2742G>A c.(2740-2742)tgG>tgA p.W914* TDRD9_ENST00000339063.5_Nonsense_Mutation_p.W914* NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 914 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) GACACTTTTGGGGATACAGGA 0.438000 12 62 0 0 0.000978 0 0 ZNF281 23528 broad.mit.edu 37 1 200377283 200377283 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:200377283G>A ENST00000294740.2 - 2 1675 c.1551C>T c.(1549-1551)ctC>ctT p.L517L ZNF281_ENST00000367352.3_Silent_p.L481L|ZNF281_ENST00000367353.1_Silent_p.L517L NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 517 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 TTGTACTTTGGAGAAGACCAA 0.398000 33 140 0 0 0.001485 0 0 TANC1 85461 broad.mit.edu 37 2 160032913 160032913 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:160032913G>A ENST00000263635.6 + 13 2023 c.1786G>A c.(1786-1788)Gaa>Aaa p.E596K TANC1_ENST00000454300.1_Missense_Mutation_p.E490K NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 596 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TGGCTTAAATGAAGCTGAGTT 0.284000 20 52 0 0 0.001523 0 0 DMTF1 9988 broad.mit.edu 37 7 86824126 86824126 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:86824126C>T ENST00000414194.2 + 17 3149 c.1357C>T c.(1357-1359)Cct>Tct p.P453S DMTF1_ENST00000394703.5_Missense_Mutation_p.P719S|DMTF1_ENST00000413276.2_Missense_Mutation_p.P649S|DMTF1_ENST00000331242.7_Missense_Mutation_p.P719S|DMTF1_ENST00000432937.2_Missense_Mutation_p.P631S Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 719 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) ATCTGTCTTGCCTTTGACAAC 0.323000 6 9 0 0 0.004482 0 0 ANAPC1 64682 broad.mit.edu 37 2 112614391 112614391 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:112614391C>T ENST00000341068.3 - 12 2203 c.1431G>A c.(1429-1431)aaG>aaA p.K477K NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 477 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GTGCTGCATCCTTTGCTGGTA 0.353000 7 62 0 0 0.000443 0 0 FAT3 120114 broad.mit.edu 37 11 92577195 92577195 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:92577195G>A ENST00000298047.6 + 18 10679 c.10662G>A c.(10660-10662)ctG>ctA p.L3554L FAT3_ENST00000525166.1_Silent_p.L3404L|FAT3_ENST00000409404.2_Silent_p.L3554L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3554 Cadherin 33. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCATTCCCCTGGAAATTTTCA 0.488000 TCGA Ovarian(4;0.039) 254 285 0 0 0.003610 0 0 ALOX12B 242 broad.mit.edu 37 17 7990686 7990686 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:7990686G>A ENST00000319144.4 - 1 335 c.75C>T c.(73-75)acC>acT p.T25T NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 25 PLAT. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 TCCCCACAATGGTCAGTGAGA 0.567000 Multiple Myeloma(8;0.094) 55 40 0 0 0.003610 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604707 140604707 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140604707G>A ENST00000239449.4 + 1 1630 c.1630G>A c.(1630-1632)Gag>Aag p.E544K PCDHB14_ENST00000515856.2_Missense_Mutation_p.E391K NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 544 Cadherin 5. 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) GTTGAGCAGCGAGGCGCTGGT 0.687000 7 35 0 0 0.001984 0 0 COL7A1 1294 broad.mit.edu 37 3 48616816 48616816 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:48616816G>A ENST00000328333.8 - 60 5400 c.5293C>T c.(5293-5295)Cca>Tca p.P1765S COL7A1_ENST00000454817.1_Missense_Mutation_p.P1765S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1765 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTCCTGCTGGGCCTCGGACA 0.567000 21 50 0 0 0.002299 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21054322 21054322 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:21054322G>A ENST00000381545.3 + 15 2005 c.1786G>A c.(1786-1788)Gat>Aat p.D596N SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.D596N|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D596N|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D596N NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 596 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.D596N(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GGCTCTGATTGATAAAACATG 0.378000 40 57 0 0 0.003214 0 0 GIT2 9815 broad.mit.edu 37 12 110390907 110390907 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:110390907T>G ENST00000360185.4 - 13 1396 c.1232A>C c.(1231-1233)aAc>aCc p.N411T GIT2_ENST00000553118.1_Missense_Mutation_p.N411T|GIT2_ENST00000356259.4_Missense_Mutation_p.N411T|GIT2_ENST00000551209.1_Missense_Mutation_p.N410T|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.N411T|GIT2_ENST00000547815.1_Missense_Mutation_p.N411T|GIT2_ENST00000320063.9_Missense_Mutation_p.N411T|GIT2_ENST00000457474.2_Missense_Mutation_p.N413T|GIT2_ENST00000355312.3_Missense_Mutation_p.N411T|GIT2_ENST00000354574.4_Missense_Mutation_p.N413T|GIT2_ENST00000361006.5_Missense_Mutation_p.N411T Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 411 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 CTTCTGCCGGTTTGTTTTGCT 0.547000 9 55 0 0 0.000443 0 0 SNHG16 100507246 broad.mit.edu 37 17 74557740 74557740 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:74557740C>T ENST00000364968.1 + 0 25 GTTAGTTATCCCTGTCTGAAA 0.363000 38 76 0 0 0.002522 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221031 140221031 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140221031G>A ENST00000531613.1 + 1 125 c.125G>A c.(124-126)gGc>gAc p.G42D PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G42D|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAAACACGGCACCTTCGTG 0.672000 10 61 0 0 0.000978 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377496 125377496 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:125377496C>T ENST00000297913.2 + 1 549 c.480C>T c.(478-480)acC>acT p.T160T RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 TGCTGCATACCTTTCTCATAG 0.498000 26 18 0 0 0.005443 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811248 5811248 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:5811248G>A ENST00000381095.3 - 6 2688 c.2061C>T c.(2059-2061)ttC>ttT p.F687F NLGN4X_ENST00000275857.6_Silent_p.F687F|NLGN4X_ENST00000538097.1_Silent_p.F687F|NLGN4X_ENST00000381092.1_Silent_p.F687F|NLGN4X_ENST00000381093.2_Silent_p.F707F NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 687 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AGATGTTGAGGAAGAGGAGCG 0.507000 47 27 0 0 0.003610 0 0 KRT75 9119 broad.mit.edu 37 12 52825840 52825840 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:52825840C>T ENST00000252245.5 - 3 944 c.724G>A c.(724-726)Gaa>Aaa p.E242K NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 242 Coil 1B.|Rod. E -> G (in dbSNP:rs2232393). keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) TTGTTAATTTCATCTTCGTAC 0.453000 6 37 0 0 0.001984 0 0 MUC17 140453 broad.mit.edu 37 7 100680237 100680237 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:100680237C>T ENST00000306151.4 + 3 5604 c.5540C>T c.(5539-5541)tCa>tTa p.S1847L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1847 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) GCAGTCAGTTCATCTCCTACA 0.512000 60 157 0 0 0.003610 0 0 MID2 11043 broad.mit.edu 37 X 107084038 107084038 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:107084038G>A ENST00000262843.6 + 2 691 c.143G>A c.(142-144)aGc>aAc p.S48N MID2_ENST00000443968.2_Missense_Mutation_p.S48N NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 48 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 TGTGCTCACAGCCTCTGCTTC 0.483000 8 106 0 0 0.004482 0 0 SNHG14 104472715 broad.mit.edu 37 15 25422007 25422007 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:25422007C>T ENST00000441592.2 + 0 224 SNORD115-4_ENST00000363810.1_RNA TTATATTGTTCTGAAGAGAGG 0.537000 92 186 0 0 0.003610 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12856118 12856118 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:12856118G>A ENST00000332296.7 + 4 1501 c.1398G>A c.(1396-1398)gaG>gaA p.E466E PRAMEF1_ENST00000400814.3_Silent_p.E221E NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 466 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACCGTCTGAGGAACTGGAGC 0.542000 24 68 0 0 0.003271 0 0 MSR1 4481 broad.mit.edu 37 8 16026222 16026222 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:16026222G>A ENST00000350896.3 - 4 572 c.375C>T c.(373-375)atC>atT p.I125I MSR1_ENST00000262101.5_Silent_p.I125I|MSR1_ENST00000445506.2_Silent_p.I143I|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Silent_p.I125I|MSR1_ENST00000355282.2_Silent_p.I125I NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 125 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) AAATATGCTGGATTCTCTTCT 0.388000 39 98 0 0 0.001706 0 0 C15orf48 84419 broad.mit.edu 37 15 45723006 45723006 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:45723006C>T ENST00000344300.3 + 1 202 c.12C>T c.(10-12)ttC>ttT p.F4F RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Silent_p.F4F NM_032413.3 NP_115789.1 Q9C002 NMES1_HUMAN chromosome 15 open reading frame 48 4 nucleus large_intestine(1)|lung(2)|ovary(1) 4 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) TGAGCTTTTTCCAACTCCTGA 0.373000 OREG0023107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 45 0 0 0.002450 0 0 PRKCQ 5588 broad.mit.edu 37 10 6553137 6553137 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:6553137G>A ENST00000263125.5 - 3 237 c.138C>T c.(136-138)atC>atT p.I46I PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.I46I NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 46 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 GCTTTTTCTGGATATACATCT 0.453000 6 39 0 0 0.003080 0 0 UMPS 7372 broad.mit.edu 37 3 124456749 124456749 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:124456749C>T ENST00000232607.2 + 3 751 c.645C>T c.(643-645)ccC>ccT p.P215P UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Silent_p.P37P|UMPS_ENST00000536109.1_Silent_p.P123P|UMPS_ENST00000413078.2_Silent_p.P37P NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 215 Domain linker. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) ATGGTTCTCCCCTTTCTATAA 0.478000 15 35 0 0 0.004007 0 0 SLC1A6 6511 broad.mit.edu 37 19 15083648 15083648 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:15083648C>T ENST00000430939.2 - 2 217 c.88G>A c.(88-90)Gct>Act p.A30T SLC1A6_ENST00000221742.3_Silent_p.R25R|SLC1A6_ENST00000598504.1_Silent_p.R25R|SLC1A6_ENST00000544886.2_Silent_p.R25R|SLC1A6_ENST00000600144.1_Silent_p.R25R P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 0 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TTTCCTGCAGCCGCTGCAGCC 0.667000 4 8 0 0 0.000248 0 0 PAK7 57144 broad.mit.edu 37 20 9561044 9561044 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:9561044G>A ENST00000378429.3 - 5 1284 c.738C>T c.(736-738)tcC>tcT p.S246S PAK7_ENST00000353224.5_Silent_p.S246S|PAK7_ENST00000378423.1_Silent_p.S246S NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 246 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGCTCTCCTTGGAGCACCCGC 0.537000 30 47 0 0 0.001061 0 0 OR52N5 390075 broad.mit.edu 37 11 5799834 5799834 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:5799834G>A ENST00000317093.2 - 1 63 c.31C>T c.(31-33)Cca>Tca p.P11S TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TGAATTGTTGGAAACCAGCAT 0.358000 8 34 0 0 0.004482 0 0 DNAH5 1767 broad.mit.edu 37 5 13820480 13820480 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:13820480G>A ENST00000265104.4 - 41 6920 c.6816C>T c.(6814-6816)atC>atT p.I2272I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2272 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCAAGGTGTGGATGCAGGTGG 0.552000 Kartagener syndrome 15 22 0 0 0.006122 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439545 145439545 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:145439545G>A ENST00000511217.1 + 8 1724 c.1672G>A c.(1672-1674)Ggg>Agg p.G558R SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.G558R Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 558 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGCCACAGGGGATCCCCTC 0.672000 12 41 0 0 0.001855 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955501 18955501 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:18955501G>A ENST00000302797.3 - 1 1055 c.831C>T c.(829-831)tcC>tcT p.S277S NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 277 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GCTGCCTAAAGGAGCCCACGA 0.507000 11 12 0 0 0.001855 0 0 TBCK 93627 broad.mit.edu 37 4 107016744 107016744 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:107016744G>A ENST00000273980.4 - 26 2913 c.2466C>T c.(2464-2466)ttC>ttT p.F822F TBCK_ENST00000394708.2_Silent_p.F822F|TBCK_ENST00000432496.2_Silent_p.F822F|TBCK_ENST00000361687.4_Silent_p.F759F|TBCK_ENST00000394706.3_Silent_p.F783F Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 822 Rhodanese. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 CTTCTGCAGTGAAGGCAGCAC 0.463000 20 16 0 0 0.001882 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558594 129558594 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:129558594C>T ENST00000422113.2 - 9 3452 c.3126G>A c.(3124-3126)agG>agA p.R1042R TMEM132D_ENST00000389441.4_Silent_p.R580R NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1042 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTACCCTTTTCCTTTTTGAGG 0.483000 15 79 0 0 0.006122 0 0 MUC3A 4584 broad.mit.edu 37 7 100552275 100552275 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:100552275G>A ENST00000319509.7 + 1 1026 c.1026G>A c.(1024-1026)atG>atA p.M342I mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GTGTTGAAATGGATCCCAGCA 0.483000 80 287 0 0 0.003610 0 0 KCNIP4 80333 broad.mit.edu 37 4 20884291 20884291 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:20884291C>T ENST00000382152.2 - 2 270 c.103G>A c.(103-105)Gag>Aag p.E35K KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000382148.3_Intron NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 35 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) ATGAGCCGCTCTTTAATGCTG 0.458000 22 39 0 0 0.001271 0 0 SLC39A11 201266 broad.mit.edu 37 17 71080986 71080986 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:71080986C>T ENST00000542342.2 - 3 197 c.e3-1 SLC39A11_ENST00000579732.1_Splice_Site|SLC39A11_ENST00000255559.3_Splice_Site NM_001159770.1 NP_001153242.1 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 zinc ion transport integral to membrane metal ion transmembrane transporter activity endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 AGATCCGCCTCTGAAAATCAA 0.418000 18 43 0 0 0.001216 0 0 SYNPO 11346 broad.mit.edu 37 5 150029242 150029242 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:150029242C>T ENST00000394243.1 + 3 2511 c.2137C>T c.(2137-2139)Ccc>Tcc p.P713S SYNPO_ENST00000519664.1_Missense_Mutation_p.P469S|SYNPO_ENST00000522122.1_Missense_Mutation_p.P713S|SYNPO_ENST00000307662.4_Missense_Mutation_p.P469S NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 713 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAAGCCCAAACCCAACCAGAA 0.642000 4 27 0 0 0.000602 0 0 GJA1 2697 broad.mit.edu 37 6 121768239 121768239 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:121768239C>T ENST00000282561.3 + 2 403 c.246C>T c.(244-246)atC>atT p.I82I NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 82 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) TCCTGCAGATCATATTTGTGT 0.448000 8 25 0 0 0.004482 0 0 NLRP1 22861 broad.mit.edu 37 17 5425088 5425088 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:5425088G>A ENST00000345221.3 - 13 4093 c.3539C>T c.(3538-3540)tCc>tTc p.S1180F NLRP1_ENST00000269280.4_Missense_Mutation_p.S1180F|NLRP1_ENST00000572272.1_Missense_Mutation_p.S1180F|NLRP1_ENST00000262467.5_Missense_Mutation_p.S1184F|NLRP1_ENST00000577119.1_Missense_Mutation_p.S1150F|NLRP1_ENST00000354411.3_Missense_Mutation_p.S1150F NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1180 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TTGGAACAGGGATGTGTCCAC 0.478000 25 33 0 0 0.003954 0 0 ZNF300 91975 broad.mit.edu 37 5 150277702 150277702 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:150277702C>T ENST00000427179.1 - 5 413 c.187G>A c.(187-189)Gga>Aga p.G63R ZNF300_ENST00000418587.2_Missense_Mutation_p.G27R|ZNF300_ENST00000394226.2_Missense_Mutation_p.G63R|ZNF300_ENST00000274599.5_Missense_Mutation_p.G63R|ZNF300_ENST00000446148.2_Missense_Mutation_p.G79R Q96RE9 ZN300_HUMAN zinc finger protein 300 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCTCTTCTCCTTGTTCCAAC 0.388000 3 9 0 0 0.004672 0 0 SPG7 6687 broad.mit.edu 37 16 89590484 89590484 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:89590484G>A ENST00000268704.2 + 4 462 c.447G>A c.(445-447)gcG>gcA p.A149A SPG7_ENST00000341316.2_Silent_p.A149A NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 149 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) TGGTCATCGCGGTTGTCATGA 0.612000 17 52 0 0 0.004990 0 0 DOCK3 1795 broad.mit.edu 37 3 51352490 51352490 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:51352490G>A ENST00000266037.9 + 32 3356 c.3333G>A c.(3331-3333)cgG>cgA p.R1111R NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1111 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAGAAGTACGGAATATCATGA 0.438000 7 28 0 0 0.003080 0 0 SH2D4B 387694 broad.mit.edu 37 10 82369275 82369275 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:82369275G>A ENST00000339284.2 + 6 1383 c.953G>A c.(952-954)aGg>aAg p.R318K SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000313455.4_Missense_Mutation_p.R270K|SH2D4B_ENST00000470604.2_Missense_Mutation_p.R317K NM_207372.2 NP_997255.2 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 317 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) GGCTTCGAGAGGAACACCAAG 0.592000 15 51 0 0 0.006122 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877315 24877315 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:24877315C>T ENST00000382554.3 + 3 757 c.439C>T c.(439-441)Cct>Tct p.P147S NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 147 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GGGCCCTGCCCCTCTGCTGAC 0.677000 6 18 0 0 0.001168 0 0 MCM10 55388 broad.mit.edu 37 10 13224992 13224992 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:13224992C>T ENST00000378694.1 + 7 1065 c.990C>T c.(988-990)tcC>tcT p.S330S MCM10_ENST00000378714.3_Silent_p.S330S|MCM10_ENST00000484800.2_Silent_p.S331S Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 331 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AATGTGTGTCCTTGTTCTTAT 0.433000 8 40 0 0 0.003080 0 0 IL21R 50615 broad.mit.edu 37 16 27445682 27445682 + Missense_Mutation SNP G G A rs149169230 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:27445682G>A ENST00000337929.3 + 3 537 c.64G>A c.(64-66)Gac>Aac p.D22N IL21R_ENST00000395755.1_Missense_Mutation_p.D22N|IL21R_ENST00000564089.1_Missense_Mutation_p.D22N|IL21R_ENST00000395754.4_Missense_Mutation_p.D22N NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 22 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 GGGCTGCCCCGACCTCGTCTG 0.632000 T BCL6 NHL 15 27 0 0 0.004990 0 0 CASP14 23581 broad.mit.edu 37 19 15164592 15164592 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:15164592G>A ENST00000427043.3 + 4 534 c.226G>A c.(226-228)Gaa>Aaa p.E76K CASP14_ENST00000221740.1_Missense_Mutation_p.E76K NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 76 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 CGATTCCCGGGAAGATCCCGT 0.542000 35 44 0 0 0.001287 0 0 TMEM255B 348013 broad.mit.edu 37 13 114503840 114503840 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:114503840T>G ENST00000375353.3 + 6 491 c.464T>G c.(463-465)gTg>gGg p.V155G NM_182614.2 NP_872420.1 transmembrane protein 255B CAGCTGAAGGTGAGAAGCAAC 0.647000 9 8 0 0 0.001368 0 0 SPTBN5 51332 broad.mit.edu 37 15 42156208 42156208 + Missense_Mutation SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:42156208A>C ENST00000320955.6 - 40 7160 c.6933T>G c.(6931-6933)gaT>gaG p.D2311E NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2311 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TGATGCAGGCATCACCCACTG 0.587000 21 59 0 0 0.002299 0 0 OR13C2 392376 broad.mit.edu 37 9 107367647 107367647 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:107367647C>T ENST00000542196.1 - 1 304 c.262G>A c.(262-264)Gaa>Aaa p.E88K NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 GTCTTTCTTTCTGAAAGGAAG 0.517000 19 15 0 0 0.004656 0 0 TMEM127 55654 broad.mit.edu 37 2 96919674 96919674 + Missense_Mutation SNP G G A rs140860906 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:96919674G>A ENST00000258439.2 - 4 845 c.589C>T c.(589-591)Cgc>Tgc p.R197C TMEM127_ENST00000435268.1_Missense_Mutation_p.R113C|TMEM127_ENST00000432959.1_Missense_Mutation_p.R197C NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 197 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GGGTAGTGGCGCAGGAGGTTG 0.592000 12 38 0 0 0.001368 0 0 BPIFB6 128859 broad.mit.edu 37 20 31622587 31622587 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:31622587G>A ENST00000349552.1 + 4 321 c.321G>A c.(319-321)atG>atA p.M107I NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 107 extracellular region lipid binding GAGGGAACATGGAGATCATCG 0.587000 8 105 0 0 0.004482 0 0 MAP3K6 9064 broad.mit.edu 37 1 27684357 27684357 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:27684357C>T ENST00000493901.1 - 23 3165 c.2926G>A c.(2926-2928)Gag>Aag p.E976K MAP3K6_ENST00000374040.3_Missense_Mutation_p.E968K|MAP3K6_ENST00000357582.2_Missense_Mutation_p.E976K NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 976 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GCCGCAGGCTCCTCGGGCACC 0.652000 OREG0013282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 7 0 0 0.000602 0 0 OR5H6 79295 broad.mit.edu 37 3 97983347 97983347 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:97983347C>T ENST00000383696.2 + 1 260 c.219C>T c.(217-219)atC>atT p.I73I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ACCTTCATATCCCAATGTACT 0.418000 32 64 0 0 0.003271 0 0 MYH8 4626 broad.mit.edu 37 17 10296203 10296203 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:10296203G>A ENST00000403437.2 - 37 5502 c.5408C>T c.(5407-5409)gCc>gTc p.A1803V CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1803 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CAGCTGCTCGGCCTCATCTAG 0.572000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 70 40 0 0 0.003610 0 0 SLC41A2 84102 broad.mit.edu 37 12 105322143 105322143 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:105322143C>T ENST00000258538.3 - 1 290 c.163G>A c.(163-165)Gaa>Aaa p.E55K NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 55 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 TGCCTGTCTTCTTGGTTTTTC 0.363000 3 10 0 0 0.004672 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7670259 7670259 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:7670259C>T ENST00000446248.2 + 2 397 c.296C>T c.(295-297)cCc>cTc p.P99L CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P99L NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 99 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GAAACACCCCCCAACCCCTCT 0.692000 25 30 0 0 0.004656 0 0 CHD4 1108 broad.mit.edu 37 12 6700880 6700880 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:6700880G>A ENST00000309577.6 - 21 3365 c.3202C>T c.(3202-3204)Cgt>Tgt p.R1068C CHD4_ENST00000357008.2_Missense_Mutation_p.R1068C|CHD4_ENST00000544484.1_Missense_Mutation_p.R1065C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1061C Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1068 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATGAGTACACGATGCCCACCC 0.468000 35 84 0 0 0.005524 0 0 C14orf105 55195 broad.mit.edu 37 14 57960304 57960304 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:57960304A>G ENST00000216445.3 - 1 266 c.130T>C c.(130-132)Tca>Cca p.S44P C14orf105_ENST00000422976.2_Missense_Mutation_p.S44P|C14orf105_ENST00000534126.1_Missense_Mutation_p.S44P|C14orf105_ENST00000526336.1_Missense_Mutation_p.S44P NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 44 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 AGTGAATATGAAGTCTTTTCT 0.443000 4 21 0 0 0.000602 0 0 HABP2 3026 broad.mit.edu 37 10 115335754 115335754 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:115335754T>A ENST00000351270.3 + 4 418 c.322T>A c.(322-324)Tgt>Agt p.C108S HABP2_ENST00000537906.1_Missense_Mutation_p.S96R|HABP2_ENST00000542051.1_Missense_Mutation_p.C82S|HABP2_ENST00000541666.1_Missense_Mutation_p.C108S NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 108 EGF-like 1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) TGGGAATAAGTGTCAGAAAGG 0.537000 16 34 0 0 0.004990 0 0 TBX15 6913 broad.mit.edu 37 1 119428085 119428085 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:119428085G>A ENST00000369429.3 - 8 1088 c.1079C>T c.(1078-1080)tCg>tTg p.S360L TBX15_ENST00000207157.3_Missense_Mutation_p.S254L Q96SF7 TBX15_HUMAN T-box 15 360 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) AGAAGAAGCCGAAGGGGATGG 0.478000 4 11 0 0 0.000248 0 0 ZC3H14 79882 broad.mit.edu 37 14 89061316 89061316 + Silent SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:89061316A>T ENST00000555900.1 + 1 558 c.246A>T c.(244-246)tcA>tcT p.S82S ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000318308.6_Silent_p.S82S|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000406216.3_Silent_p.S82S|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000302216.8_Intron Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 299 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 CAAAAATTTCATCTTTGGAGG 0.313000 9 32 0 0 0.004482 0 0 OR4A5 81318 broad.mit.edu 37 11 51411637 51411637 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:51411637G>A ENST00000319760.6 - 1 811 c.759C>T c.(757-759)ttC>ttT p.F253F NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TAACATATATGAAAATACAGG 0.393000 4 14 0 0 0.000248 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64627543 64627543 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:64627543G>A ENST00000498707.1 - 12 2179 c.1837C>T c.(1837-1839)Cga>Tga p.R613* ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.R585* NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 613 TSP type-1 1. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTGCACTCTCGAATGGCTGTT 0.473000 151 321 0 0 0.003610 0 0 CBX4 8535 broad.mit.edu 37 17 77808070 77808070 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:77808070G>A ENST00000269397.4 - 5 1548 c.1371C>T c.(1369-1371)ctC>ctT p.L457L NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 457 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGGGCTGCGGGAGGGCGGCGG 0.716000 5 14 0 0 0.000602 0 0 SLC12A5 57468 broad.mit.edu 37 20 44684844 44684844 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:44684844A>G ENST00000454036.1 + 22 2988 c.2912A>G c.(2911-2913)aAc>aGc p.N971S SLC12A5_ENST00000243964.3_Missense_Mutation_p.N948S NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 971 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AATCCAGCCAACACGCGGCTC 0.572000 31 40 0 0 0.002445 0 0 DOCK2 1794 broad.mit.edu 37 5 169108785 169108785 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:169108785G>A ENST00000256935.8 + 7 588 c.508G>A c.(508-510)Gga>Aga p.G170R NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 170 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.G170R(3) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGATGAAGACGGAAATATCTT 0.413000 9 92 0 0 0.000443 0 0 ACD 65057 broad.mit.edu 37 16 67694047 67694047 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:67694047G>A ENST00000219251.8 - 1 666 c.335C>T c.(334-336)cCa>cTa p.P112L ACD_ENST00000393919.4_Missense_Mutation_p.P112L NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 112 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCCGGCTCGTGGACTGGAGGG 0.692000 16 28 0 0 0.004007 0 0 ZNF148 7707 broad.mit.edu 37 3 124952124 124952124 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:124952124G>A ENST00000360647.4 - 9 1931 c.1446C>T c.(1444-1446)aaC>aaT p.N482N SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Silent_p.N482N|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Silent_p.N482N|ZNF148_ENST00000484491.1_Silent_p.N482N NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 482 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 CCCTGCTGTTGTTACTTGCTG 0.453000 22 35 0 0 0.001523 0 0 KIF1C 10749 broad.mit.edu 37 17 4926874 4926874 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:4926874C>T ENST00000320785.5 + 23 3097 c.2740C>T c.(2740-2742)Ccc>Tcc p.P914S NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 914 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 AGCCCGGCCCCCCTCGCCACC 0.662000 20 15 0 0 0.002299 0 0 C3orf20 84077 broad.mit.edu 37 3 14814316 14814316 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:14814316G>A ENST00000253697.3 + 17 3101 c.2649G>A c.(2647-2649)gtG>gtA p.V883V C3orf20_ENST00000412910.1_Silent_p.V761V|C3orf20_ENST00000435614.1_Silent_p.V761V NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 883 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AGCCTGAAGTGGAGCTACATC 0.587000 16 22 0 0 0.004990 0 0 CLEC5A 23601 broad.mit.edu 37 7 141631543 141631543 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:141631543G>A ENST00000546910.1 - 6 625 c.429C>T c.(427-429)atC>atT p.I143I CLEC5A_ENST00000551012.2_Silent_p.I120I|CLEC5A_ENST00000438351.1_Silent_p.I120I|CLEC5A_ENST00000470595.1_5'UTR|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000439991.1_Silent_p.I39I NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 143 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) CAGAGTTGTTGATCCAACGCC 0.408000 29 64 0 0 0.003755 0 0 CHI3L2 1117 broad.mit.edu 37 1 111778695 111778695 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:111778695G>A ENST00000445067.2 + 9 1426 c.655G>A c.(655-657)Gaa>Aaa p.E219K CHI3L2_ENST00000369744.2_Missense_Mutation_p.E209K|CHI3L2_ENST00000466741.1_Missense_Mutation_p.E140K|CHI3L2_ENST00000369748.4_Missense_Mutation_p.E219K|CHI3L2_ENST00000524472.1_Missense_Mutation_p.E140K Q15782 CH3L2_HUMAN chitinase 3-like 2 219 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) TGGGTCTTGGGAAAAGCCCCT 0.517000 69 145 0 0 0.003610 0 0 EIF2B3 8891 broad.mit.edu 37 1 45347380 45347380 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:45347380G>A ENST00000360403.2 - 7 814 c.688C>T c.(688-690)Cca>Tca p.P230S EIF2B3_ENST00000372183.3_Missense_Mutation_p.P230S NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 230 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) ACTAAATATGGAATCAGTTCA 0.408000 43 62 0 0 0.002222 0 0 DEFA6 1671 broad.mit.edu 37 8 6782385 6782385 + Silent SNP C C T rs61745836 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:6782385C>T ENST00000297436.2 - 2 298 c.258G>A c.(256-258)ggG>ggA p.G86G NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 86 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CAGTGCAGGTCCCATAGGAAT 0.428000 32 45 0 0 0.003271 0 0 CARD11 84433 broad.mit.edu 37 7 2959206 2959206 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:2959206G>A ENST00000396946.4 - 18 2713 c.2310C>T c.(2308-2310)atC>atT p.I770I NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 770 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCCCCGATGTGATCAGGCCGT 0.587000 Mis DLBCL 4 15 0 0 0.000602 0 0 OR4K17 390436 broad.mit.edu 37 14 20585705 20585705 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:20585705G>A ENST00000315543.4 + 1 140 c.140G>A c.(139-141)gGa>gAa p.G47E NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ATTTTGCTGGGACTGACCAGC 0.428000 22 109 0 0 0.003330 0 0 COL4A4 1286 broad.mit.edu 37 2 227924234 227924234 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:227924234C>T ENST00000396625.3 - 28 2477 c.2270G>A c.(2269-2271)gGa>gAa p.G757E COL4A4_ENST00000329662.7_Missense_Mutation_p.G757E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 757 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCCCGGGATTCCTTTCTGACC 0.607000 38 54 0 0 0.004878 0 0 AMFR 267 broad.mit.edu 37 16 56397846 56397846 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:56397846G>A ENST00000290649.5 - 13 1981 c.1771C>T c.(1771-1773)Cag>Tag p.Q591* NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 591 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 CGAGCTTGCTGGAGGAGTTCG 0.547000 11 31 0 0 0.000978 0 0 DPYSL3 1809 broad.mit.edu 37 5 146798162 146798162 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:146798162C>T ENST00000343218.5 - 3 700 c.503G>A c.(502-504)gGa>gAa p.G168E DPYSL3_ENST00000398514.3_Missense_Mutation_p.G54E|DPYSL3_ENST00000534907.1_Intron NM_001197294.1 NP_001184223.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 54 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCTTCACTCCTCCAGGAAC 0.408000 33 57 0 0 0.003755 0 0 SYNE1 23345 broad.mit.edu 37 6 152826341 152826341 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:152826341G>A ENST00000367255.5 - 9 1374 c.773C>T c.(772-774)cCt>cTt p.P258L SYNE1_ENST00000367253.4_Missense_Mutation_p.P258L|SYNE1_ENST00000367248.3_Missense_Mutation_p.P265L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P265L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P265L|SYNE1_ENST00000466159.2_Missense_Mutation_p.P258L|SYNE1_ENST00000413186.2_Missense_Mutation_p.P258L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P258L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P258L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 258 Actin-binding.|CH 2. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTACCTTCAGGATCTAGCAG 0.428000 HNSCC(10;0.0054) 18 29 0 0 0.000958 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626350 140626350 + Silent SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140626350A>C ENST00000231173.3 + 1 1204 c.1204A>C c.(1204-1206)Agg>Cgg p.R402R NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 402 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAATTTCTACAGGCTGGTAAC 0.463000 25 35 0 0 0.003330 0 0 TLE6 79816 broad.mit.edu 37 19 2989603 2989603 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:2989603A>G ENST00000246112.4 + 13 1265 c.1064A>G c.(1063-1065)aAc>aGc p.N355S TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.N232S NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 232 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGGCTACAACCTGGCCAGC 0.652000 4 27 0 0 0.000248 0 0 KLF8 11279 broad.mit.edu 37 X 56291640 56291640 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:56291640C>T ENST00000374928.3 + 4 595 c.109C>T c.(109-111)Ccc>Tcc p.P37S KLF8_ENST00000468660.1_Missense_Mutation_p.P37S NM_001159296.1 NP_001152768.1 O95600 KLF8_HUMAN Kruppel-like factor 8 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(4)|large_intestine(6)|lung(5)|ovary(1) 16 GAACAGAGATCCCCCTGAGAT 0.418000 4 1 0 0 0.000248 0 0 LAMP5 24141 broad.mit.edu 37 20 9510386 9510386 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:9510386G>A ENST00000246070.2 + 6 1254 c.762G>A c.(760-762)gcG>gcA p.A254A LAMP5_ENST00000427562.2_Silent_p.A210A NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 254 integral to membrane TAACACTCGCGATTTACCACG 0.547000 24 40 0 0 0.004656 0 0 PMS2 5395 broad.mit.edu 37 7 6042170 6042170 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:6042170G>A ENST00000265849.7 - 5 556 c.451C>T c.(451-453)Cgc>Tgc p.R151C PMS2_ENST00000382321.4_Missense_Mutation_p.R151C|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R151C|PMS2_ENST00000441476.2_Missense_Mutation_p.R45C NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 151 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CCTCTGGGGCGGGGGTAGGGG 0.473000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 52 112 0 0 0.003610 0 0 STOML2 30968 broad.mit.edu 37 9 35100991 35100991 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:35100991G>A ENST00000356493.5 - 8 804 c.742C>T c.(742-744)Ctg>Ttg p.L248L STOML2_ENST00000452248.2_Silent_p.L203L NM_013442.1 NP_038470.1 Q9UJZ1 STML2_HUMAN stomatin (EPB72)-like 2 248 cytoskeleton receptor binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 16 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCCTTCGCCAGAACTGCACTG 0.542000 67 130 0 0 0.003610 0 0 PARP15 165631 broad.mit.edu 37 3 122354670 122354670 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:122354670G>A ENST00000483793.1 + 9 1215 c.1175G>A c.(1174-1176)gGa>gAa p.G392E PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000464300.2_Missense_Mutation_p.G587E|PARP15_ENST00000493645.1_Missense_Mutation_p.G284E|PARP15_ENST00000310366.4_Missense_Mutation_p.G353E Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 565 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity p.G353E(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) GTATCCTATGGAAAAGGAACC 0.403000 20 37 0 0 0.001216 0 0 PDE3A 5139 broad.mit.edu 37 12 20807040 20807040 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:20807040G>T ENST00000359062.3 + 15 3125 c.3085G>T c.(3085-3087)Gac>Tac p.D1029Y PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1029 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) ATGGGTGGAAGACAGCGATGA 0.478000 27 43 1.13719e-10 2.37521e-10 0.001512 1 0 TECPR2 9895 broad.mit.edu 37 14 102963977 102963977 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:102963977C>T ENST00000359520.7 + 19 4228 c.4002C>T c.(4000-4002)gcC>gcT p.A1334A NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1334 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GAGACCTCGCCCGGCGGTACG 0.677000 3 7 0 0 0.000248 0 0 ADAM21 8747 broad.mit.edu 37 14 70925538 70925538 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:70925538G>A ENST00000603540.1 + 2 1580 c.1322G>A c.(1321-1323)aGg>aAg p.R441K ADAM21_ENST00000267499.3_Missense_Mutation_p.R441K|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 441 Disintegrin. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGCACTCTAAGGCCTGGGGCT 0.507000 5 14 0 0 0.001168 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349343 103349343 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:103349343G>A ENST00000357421.4 - 2 778 c.598C>T c.(598-600)Cag>Tag p.Q200* NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 200 transport integral to membrane|mitochondrial inner membrane AGGCCATCCTGGATGGGGTCC 0.557000 65 19 0 0 0.003610 0 0 GCK 2645 broad.mit.edu 37 7 44189570 44189570 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:44189570C>T ENST00000403799.3 - 5 1046 c.577G>A c.(577-579)Ggg>Agg p.G193R GCK_ENST00000395796.3_Missense_Mutation_p.G192R|GCK_ENST00000437084.1_Missense_Mutation_p.G176R|GCK_ENST00000345378.2_Missense_Mutation_p.G194R NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 193 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 CCCCTCACCCCTCTCCGTTTG 0.632000 73 152 0 0 0.003610 0 0 ITPR1 3708 broad.mit.edu 37 3 4842138 4842138 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:4842138C>T ENST00000354582.6 + 53 7266 c.6916C>T c.(6916-6918)Ctg>Ttg p.L2306L ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Silent_p.L2258L|ITPR1_ENST00000443694.2_Silent_p.L2306L|ITPR1_ENST00000423119.2_Silent_p.L2273L|ITPR1_ENST00000357086.4_Silent_p.L2273L|ITPR1_ENST00000302640.8_Silent_p.L2306L Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2321 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) GTCGGGACTCCTGTGGACAGC 0.537000 27 51 0 0 0.003271 0 0 ZNF527 84503 broad.mit.edu 37 19 37880761 37880761 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:37880761C>T ENST00000436120.2 + 5 1917 c.1810C>T c.(1810-1812)Cat>Tat p.H604Y ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 604 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAGAGAATTCATAATAGAGA 0.343000 31 57 0 0 0.004289 0 0 OR56B1 387748 broad.mit.edu 37 11 5758199 5758199 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:5758199A>G ENST00000317121.3 + 1 519 c.453A>G c.(451-453)ttA>ttG p.L151L TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) CCTTAATCTTAAAAGCTACCC 0.438000 8 32 0 0 0.004482 0 0 PAPPA 5069 broad.mit.edu 37 9 118949766 118949766 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:118949766G>A ENST00000328252.3 + 2 1118 c.749G>A c.(748-750)cGg>cAg p.R250Q NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 250 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CACAACTACCGGGGCTACATC 0.572000 38 35 0 0 0.001485 0 0 MDN1 23195 broad.mit.edu 37 6 90406124 90406124 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:90406124G>A ENST00000369393.3 - 60 9453 c.9338C>T c.(9337-9339)tCg>tTg p.S3113L MDN1_ENST00000428876.1_Missense_Mutation_p.S3113L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3113 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.S3113L(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCAAAGCATCGAACTGATGTC 0.512000 7 41 0 0 0.004482 0 0 CHD3 1107 broad.mit.edu 37 17 7808467 7808467 + Silent SNP C C T rs146189491 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:7808467C>T ENST00000380358.4 + 26 4300 c.4299C>T c.(4297-4299)ttC>ttT p.F1433F CHD3_ENST00000358181.4_Silent_p.F1374F|CHD3_ENST00000330494.7_Silent_p.F1374F NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1374 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) ATGAAGACTTCGATGAACGTC 0.512000 32 26 0 0 0.002836 0 0 ATG7 10533 broad.mit.edu 37 3 11374466 11374466 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:11374466T>C ENST00000354449.3 + 9 813 c.788T>C c.(787-789)gTt>gCt p.V263A ATG7_ENST00000354956.5_Missense_Mutation_p.V263A|ATG7_ENST00000446450.2_Missense_Mutation_p.V224A NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 263 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 TTCCAGTCTGTTGAAGTTGTT 0.423000 7 8 0 0 0.001984 0 0 PET112 5188 broad.mit.edu 37 4 152593939 152593939 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:152593939G>A ENST00000263985.6 - 12 1560 c.1520C>T c.(1519-1521)tCt>tTt p.S507F PET112_ENST00000515812.1_Missense_Mutation_p.S466F|PET112_ENST00000507592.1_5'UTR NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 507 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTCCATCACAGAGTGGCAGAG 0.597000 15 22 0 0 0.000958 0 0 LEKR1 389170 broad.mit.edu 37 3 156710999 156710999 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:156710999G>A ENST00000470811.1 + 10 1465 c.130G>A c.(130-132)Gaa>Aaa p.E44K LEKR1_ENST00000356539.4_Missense_Mutation_p.E348K D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 57 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TGCAGAAAATGAACTGGAGAT 0.328000 37 80 0 0 0.001485 0 0 OR2W3 343171 broad.mit.edu 37 1 248059194 248059194 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:248059194C>T ENST00000537741.1 + 3 563 c.306C>T c.(304-306)ttC>ttT p.F102F OR2W3_ENST00000360358.3_Silent_p.F102F Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 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) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCCAGCTCTTCCTGTTCCTGG 0.557000 14 83 0 0 0.004007 0 0 SLC7A4 6545 broad.mit.edu 37 22 21386021 21386021 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:21386021G>A ENST00000382932.2 - 2 148 c.81C>T c.(79-81)tcC>tcT p.S27S AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.S27S NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 27 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCTCCATGGTGGAGTCCTCCA 0.657000 15 27 0 0 0.006122 0 0 MRPS14 63931 broad.mit.edu 37 1 174983953 174983953 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:174983953C>T ENST00000476371.1 - 3 255 c.239G>A c.(238-240)cGg>cAg p.R80Q MRPS14_ENST00000498253.1_5'UTR NM_022100.2 NP_071383.1 O60783 RT14_HUMAN mitochondrial ribosomal protein S14 80 translation mitochondrial ribosome protein binding|structural constituent of ribosome large_intestine(2)|lung(5)|pancreas(1)|prostate(2) 10 ACAGCTATCCCGGGGGAGGGC 0.483000 32 161 0 0 0.003755 0 0 TRBV25-1 28562 broad.mit.edu 37 7 142379012 142379012 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:142379012C>T ENST00000390398.3 + 0 317 GGAGCATTTTCCCCTGACCCT 0.498000 21 31 0 0 0.001523 0 0 FAM178A 55719 broad.mit.edu 37 10 102683839 102683839 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:102683839C>T ENST00000238961.3 + 5 1229 c.1081C>T c.(1081-1083)Ctt>Ttt p.L361F FAM178A_ENST00000370269.3_Missense_Mutation_p.L361F|FAM178A_ENST00000370271.3_Missense_Mutation_p.L361F NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 361 AGAGTCCTTCCTTGAGAAGCG 0.378000 10 21 0 0 0.000673 0 0 THRAP3 9967 broad.mit.edu 37 1 36752234 36752234 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:36752234C>T ENST00000354618.5 + 4 627 c.403C>T c.(403-405)Cct>Tct p.P135S THRAP3_ENST00000469141.2_Missense_Mutation_p.P135S NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 135 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGAAGGTCCCCTTCACCAAG 0.542000 T USP6 aneurysmal bone cysts 93 178 0 0 0.003610 0 0 KCNK10 54207 broad.mit.edu 37 14 88729891 88729891 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:88729891G>A ENST00000340700.5 - 2 493 c.42C>T c.(40-42)gcC>gcT p.A14A KCNK10_ENST00000312350.5_Silent_p.A19A|KCNK10_ENST00000319231.5_Silent_p.A19A NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 14 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CTGCGGGAACGGCCACTGAGG 0.557000 23 29 0 0 0.001882 0 0 SLC28A1 9154 broad.mit.edu 37 15 85476404 85476404 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:85476404C>T ENST00000394573.1 + 13 1314 c.1112C>T c.(1111-1113)tCt>tTt p.S371F SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.S371F|SLC28A1_ENST00000537216.1_Missense_Mutation_p.S371F|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S371F NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 371 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) ATTGCAGCCTCTGTGATGGCT 0.567000 62 108 0 0 0.003610 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60036029 60036029 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:60036029G>A ENST00000586569.1 + 9 917 c.879G>A c.(877-879)aaG>aaA p.K293K TNFRSF11A_ENST00000269485.7_Intron NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 293 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) TGGAGGAGAAGACATTTCCAG 0.532000 4 62 0 0 0.000248 0 0 TNFSF8 944 broad.mit.edu 37 9 117666403 117666403 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:117666403C>T ENST00000223795.2 - 4 626 c.513G>A c.(511-513)caG>caA p.Q171Q TNFSF8_ENST00000474301.1_Intron NM_001244.3 NP_001235.1 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, member 8 171 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1) 12 TCACCAGGGCCTGTTTTTTGA 0.423000 32 34 0 0 0.002096 0 0 SCARB2 950 broad.mit.edu 37 4 77100829 77100829 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:77100829G>A ENST00000264896.2 - 4 802 c.453C>T c.(451-453)ttC>ttT p.F151F SCARB2_ENST00000452464.2_Intron NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 151 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) TCTCCCTGAGGAAGTGCACCT 0.502000 OREG0016231 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 41 0 0 0.003610 0 0 DHTKD1 55526 broad.mit.edu 37 10 12129721 12129721 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:12129721C>T ENST00000263035.4 + 4 772 c.710C>T c.(709-711)cCt>cTt p.P237L DHTKD1_ENST00000465617.1_3'UTR NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 237 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CTGCAGTTCCCTCCAGAGGTA 0.448000 77 161 0 0 0.003610 0 0 ZPLD1 131368 broad.mit.edu 37 3 102183090 102183090 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:102183090C>T ENST00000306176.1 + 7 904 c.804C>T c.(802-804)ttC>ttT p.F268F ZPLD1_ENST00000491959.1_Silent_p.F252F|ZPLD1_ENST00000466937.1_Silent_p.F252F NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 252 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ATGATCTTTTCCTTAGGTAAG 0.313000 43 93 0 0 0.002222 0 0 CCDC73 493860 broad.mit.edu 37 11 32720870 32720870 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:32720870C>T ENST00000531481.1 - 6 593 c.315_splice c.e6-1 p.G106_splice CCDC73_ENST00000335185.5_Splice_Site_p.G106_splice|CCDC73_ENST00000534415.1_5'UTR Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 106 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTGATATTTTCCCTTTAAGTA 0.259000 5 23 0 0 0.000602 0 0 WFDC10B 280664 broad.mit.edu 37 20 44314629 44314629 + Translation_Start_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:44314629C>T ENST00000330523.5 - 3 233 c.3G>A c.(1-3)atG>atA p.M1I WFDC10B_ENST00000335769.2_Intron NM_172006.2 NP_742003.1 Q8IUB3 WF10B_HUMAN WAP four-disulfide core domain 10B 1 extracellular region peptidase inhibitor activity lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) TCTGGGGTGCCATAACTCTGA 0.557000 5 16 0 0 0.000602 0 0 IQGAP3 128239 broad.mit.edu 37 1 156498311 156498311 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:156498311G>A ENST00000361170.2 - 36 4673 c.4663C>T c.(4663-4665)Ccc>Tcc p.P1555S NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1555 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGAGAGGCGGGAAGATCTTCA 0.542000 15 85 0 0 0.003163 0 0 NCCRP1 342897 broad.mit.edu 37 19 39691002 39691002 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:39691002C>T ENST00000339852.4 + 5 587 c.565C>T c.(565-567)Ctg>Ttg p.L189L NM_001001414.1 NP_001001414.1 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 189 FBA. protein catabolic process kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 GGACAGCCGGCTGGATGCGTG 0.652000 25 108 0 0 0.002445 0 0 CHM 1121 broad.mit.edu 37 X 85212875 85212875 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:85212875G>A ENST00000357749.2 - 7 954 c.925C>T c.(925-927)Cct>Tct p.P309S CHM_ENST00000537751.1_Missense_Mutation_p.P161S|CHM_ENST00000467744.1_Intron NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 309 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TATTCATCAGGATATTTCTCA 0.303000 19 10 0 0 0.002780 0 0 SAMD9 54809 broad.mit.edu 37 7 92731710 92731710 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:92731710C>T ENST00000379958.2 - 3 3970 c.3701G>A c.(3700-3702)gGa>gAa p.G1234E NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1234 cytoplasm p.G1234V(1) 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) ATCACTACTTCCTGATACAAA 0.294000 42 100 0 0 0.002852 0 0 TAAR6 319100 broad.mit.edu 37 6 132891895 132891895 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:132891895C>T ENST00000275198.1 + 1 435 c.435C>T c.(433-435)acC>acT p.T145T NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 145 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) CCAAGTTCACCGTATCTGTGT 0.502000 82 145 0 0 0.003610 0 0 CORIN 10699 broad.mit.edu 37 4 47605664 47605664 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:47605664C>T ENST00000273857.4 - 20 2561 c.2562G>A c.(2560-2562)tgG>tgA p.W854* CORIN_ENST00000502252.1_Nonsense_Mutation_p.W787*|CORIN_ENST00000505909.1_Nonsense_Mutation_p.W817*|CORIN_ENST00000508498.1_Nonsense_Mutation_p.W715* NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 854 Peptidase S1. W -> R (in Ref. 4; AAF21966). peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GCACCACTTTCCAAACTGCAG 0.398000 18 22 0 0 0.001216 0 0 COL28A1 340267 broad.mit.edu 37 7 7495724 7495724 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:7495724C>T ENST00000399429.3 - 16 1462 c.1322G>A c.(1321-1323)gGa>gAa p.G441E NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 441 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCCTTGGGGTCCCACAGGTCC 0.428000 16 58 0 0 0.001216 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157377 65157377 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:65157377G>A ENST00000323544.4 + 6 891 c.763G>A c.(763-765)Gac>Aac p.D255N AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 255 Pro-rich. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 AGCAGAGGAGGACAGTGGCTC 0.642000 19 42 0 0 0.001216 0 0 LRP5 4041 broad.mit.edu 37 11 68181183 68181183 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:68181183G>A ENST00000294304.7 + 12 2636 c.2530G>A c.(2530-2532)Gat>Aat p.D844N NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 844 Beta-propeller 3. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GATTGCCGACGATCTCCCGCA 0.617000 25 38 0 0 0.004656 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442776 25442776 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:25442776C>T ENST00000424208.1 + 0 1636 SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 ACTTAAAAATCATGCTCAATA 0.483000 109 186 0 0 0.003610 0 0 ADAM7 8756 broad.mit.edu 37 8 24350607 24350607 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:24350607C>T ENST00000175238.6 + 16 1790 c.1707C>T c.(1705-1707)ctC>ctT p.L569L RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Silent_p.L341L|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.L569L NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 569 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTTCCTCTCTCCTTGGAGAAG 0.398000 21 35 0 0 0.005443 0 0 TGM6 343641 broad.mit.edu 37 20 2384303 2384303 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:2384303C>T ENST00000202625.2 + 9 1231 c.1170C>T c.(1168-1170)ttC>ttT p.F390F TGM6_ENST00000381423.1_Silent_p.F390F NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 390 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.F390L(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) ATGGCCCCTTCGTGTTTGCGG 0.617000 27 52 0 0 0.003954 0 0 SYNE1 23345 broad.mit.edu 37 6 152841605 152841605 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:152841605C>T ENST00000367255.5 - 6 899 c.298G>A c.(298-300)Gaa>Aaa p.E100K SYNE1_ENST00000367253.4_Missense_Mutation_p.E100K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E100K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E100K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E100K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E100K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E100K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E100K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E100K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 100 Actin-binding.|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.E100K(2) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTCTTCCTTCGAGGAACTTG 0.443000 HNSCC(10;0.0054) 25 50 0 0 0.001061 0 0 BRWD1 54014 broad.mit.edu 37 21 40571568 40571568 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:40571568C>T ENST00000342449.3 - 40 4852 c.4774G>A c.(4774-4776)Gga>Aga p.G1592R BRWD1_ENST00000380800.3_Missense_Mutation_p.G1592R|BRWD1_ENST00000333229.2_Missense_Mutation_p.G1592R NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1592 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CTGCCACATCCATTTGCTAAT 0.303000 OREG0003861 type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 39 0 0 0.001523 0 0 CES3 23491 broad.mit.edu 37 16 67006379 67006379 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:67006379C>T ENST00000303334.4 + 11 1483 c.1412C>T c.(1411-1413)cCc>cTc p.P471L CES3_ENST00000543856.1_Missense_Mutation_p.P110L|CES3_ENST00000394037.1_Missense_Mutation_p.P471L NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 471 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.P471F(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) TTCGGAGGTCCCTTCCTCATG 0.582000 39 91 0 0 0.001706 0 0 FOXI1 2299 broad.mit.edu 37 5 169533504 169533504 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:169533504C>T ENST00000449804.2 + 1 588 c.543C>T c.(541-543)ttC>ttT p.F181F FOXI1_ENST00000306268.6_Silent_p.F181F NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 181 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACGACTGCTTCAAGAAGGTGC 0.587000 Pendred syndrome 10 9 0 0 0.002450 0 0 C1orf127 148345 broad.mit.edu 37 1 11017675 11017675 + Missense_Mutation SNP C C T rs12567143 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:11017675C>T ENST00000377004.4 - 7 690 c.691G>A c.(691-693)Gag>Aag p.E231K C1orf127_ENST00000377008.4_Missense_Mutation_p.E82K NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 82 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCACTGACCTCCCACCTCTGA 0.587000 17 16 0 0 0.000958 0 0 SAGE1 55511 broad.mit.edu 37 X 134994548 134994548 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:134994548G>A ENST00000535938.1 + 19 2757 c.2590G>A c.(2590-2592)Gaa>Aaa p.E864K SAGE1_ENST00000324447.3_Missense_Mutation_p.E864K|SAGE1_ENST00000537770.1_Missense_Mutation_p.E488K|SAGE1_ENST00000370709.3_Missense_Mutation_p.E864K NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 864 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) ACAATTTGTTGAATTTACCAT 0.348000 70 23 0 0 0.003610 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474589 140474589 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140474589G>A ENST00000194155.4 + 1 363 c.215G>A c.(214-216)gGa>gAa p.G72E NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 72 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTTCCAAAGGAAAAAAAATG 0.522000 11 69 0 0 0.002450 0 0 MLC1 23209 broad.mit.edu 37 22 50500043 50500043 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:50500043C>T ENST00000311597.5 - 12 1709 c.1103G>A c.(1102-1104)tGg>tAg p.W368* MLC1_ENST00000450140.2_Nonsense_Mutation_p.W316*|MLC1_ENST00000535444.1_Nonsense_Mutation_p.W289*|MLC1_ENST00000431262.2_Nonsense_Mutation_p.W338*|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Nonsense_Mutation_p.W334*|MLC1_ENST00000395876.2_Nonsense_Mutation_p.W368* NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 368 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) GACGGCTCTCCAGGCTTTCTC 0.632000 17 51 0 0 0.001882 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830265 43830265 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:43830265G>A ENST00000372458.3 - 6 546 c.429C>T c.(427-429)ttC>ttT p.F143F ELOVL1_ENST00000413844.2_Silent_p.F116F|ELOVL1_ENST00000470769.1_5'UTR NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 143 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAGAGTGATGGAAGACATGTA 0.557000 19 78 0 0 0.001216 0 0 USP29 57663 broad.mit.edu 37 19 57642603 57642603 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:57642603T>C ENST00000254181.4 + 4 3014 c.2560T>C c.(2560-2562)Ttc>Ctc p.F854L USP29_ENST00000598197.1_Missense_Mutation_p.F854L NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 854 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 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;0.026) GCAGGCCTGGTTCACATACAA 0.468000 17 44 0 0 0.006122 0 0 UPK3B 80761 broad.mit.edu 37 7 76140982 76140982 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:76140982G>A ENST00000419923.2 + 2 634 c.409G>A c.(409-411)Ggc>Agc p.G137S UPK3B_ENST00000443097.2_Missense_Mutation_p.G82S|UPK3B_ENST00000257632.5_Missense_Mutation_p.G137S|UPK3B_ENST00000448265.3_Missense_Mutation_p.G137S|UPK3B_ENST00000334348.3_Missense_Mutation_p.G82S|UPK3B_ENST00000394849.1_Missense_Mutation_p.G82S Q9BT76 UPK3B_HUMAN uroplakin 3B 137 negative regulation of gene expression integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2) 8 Myeloproliferative disorder(862;0.204) AGCCTCCAGGGGCTTCCAGAA 0.622000 8 8 0 0 0.000673 0 0 FRMD1 79981 broad.mit.edu 37 6 168475947 168475947 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:168475947G>A ENST00000283309.6 - 2 346 c.282C>T c.(280-282)ttC>ttT p.F94F FRMD1_ENST00000440994.2_Silent_p.F26F NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 94 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AGAGGCCAAAGAACTGCGCGT 0.612000 19 41 0 0 0.003330 0 0 FGF4 2249 broad.mit.edu 37 11 69588793 69588793 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:69588793G>A ENST00000168712.1 - 2 761 c.444_splice c.e2+1 p.S148_splice FGF4_ENST00000538040.1_Intron NM_002007.2 NP_001998.1 P08620 FGF4_HUMAN fibroblast growth factor 4 148 cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade extracellular region growth factor activity|heparin binding lung(3) 3 Melanoma(5;1.89e-05) LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278) Pentosan Polysulfate(DB00686) GGTACTCACCGAGCCATAGAG 0.652000 4 21 0 0 0.000602 0 0 PDE6B 5158 broad.mit.edu 37 4 659089 659089 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:659089G>A ENST00000255622.6 + 19 2282 c.2239G>A c.(2239-2241)Gaa>Aaa p.E747K PDE6B_ENST00000496514.1_Missense_Mutation_p.E747K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E468K NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 747 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 AGGTGACTTGGAAAGGACAGT 0.587000 13 61 0 0 0.004990 0 0 THSD7A 221981 broad.mit.edu 37 7 11485934 11485934 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:11485934C>T ENST00000423059.3 - 13 3069 c.2818G>A c.(2818-2820)Gaa>Aaa p.E940K AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 940 TSP type-1 9. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTACATTTTTCCTTCTTTTTA 0.353000 HNSCC(18;0.044) 9 28 0 0 0.000673 0 0 HDAC5 10014 broad.mit.edu 37 17 42156613 42156613 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:42156613G>A ENST00000225983.6 - 24 3303 c.2980C>T c.(2980-2982)Ctg>Ttg p.L994L HDAC5_ENST00000586802.1_Silent_p.L993L|HDAC5_ENST00000336057.5_Silent_p.L908L|HDAC5_ENST00000393622.2_Silent_p.L993L Q9UQL6 HDAC5_HUMAN histone deacetylase 5 993 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) CCCCCTGCCAGGGTCATCAGC 0.557000 15 29 0 0 0.006122 0 0 EPB41L2 2037 broad.mit.edu 37 6 131188660 131188660 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:131188660G>A ENST00000337057.3 - 16 2850 c.2669C>T c.(2668-2670)tCc>tTc p.S890F EPB41L2_ENST00000529208.1_Missense_Mutation_p.S820F|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S632F|EPB41L2_ENST00000524581.1_Missense_Mutation_p.S268F|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S737F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S632F|EPB41L2_ENST00000530757.1_Missense_Mutation_p.S119F|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S890F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S820F|EPB41L2_ENST00000392427.3_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 890 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TTCCTTGGTGGAGATTTCTGT 0.428000 15 60 0 0 0.003163 0 0 MRGPRD 116512 broad.mit.edu 37 11 68747514 68747514 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:68747514C>T ENST00000309106.3 - 1 941 c.942G>A c.(940-942)gtG>gtA p.V314V NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 314 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CATTGGTGCCCACGGTGGGCG 0.687000 16 29 0 0 0.003163 0 0 CPXM2 119587 broad.mit.edu 37 10 125530445 125530445 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:125530445C>T ENST00000241305.3 - 8 1243 c.1089G>A c.(1087-1089)ggG>ggA p.G363G CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 363 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CTTCATGCTCCCCAGGGTGAT 0.478000 47 145 0 0 0.003610 0 0 STK19 8859 broad.mit.edu 37 6 31939975 31939975 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:31939975C>T ENST00000375331.2 + 1 368 c.202C>T c.(202-204)Cct>Tct p.P68S DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.P68S|DOM3Z_ENST00000478221.1_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 68 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 TGGGGCCCGGCCTGGCGGAGG 0.706000 8 19 0 0 0.003080 0 0 CS 1431 broad.mit.edu 37 12 56679769 56679769 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:56679769C>T ENST00000351328.3 - 3 322 c.132G>A c.(130-132)gaG>gaA p.E44E CS_ENST00000542324.2_Silent_p.E31E|RP11-977G19.10_ENST00000549318.1_Silent_p.E240E|CS_ENST00000548567.1_5'UTR NM_004077.2 NP_004068.2 O75390 CISY_HUMAN citrate synthase 44 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 17 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) TTCTGGCCTGCTCCTTAGGTA 0.428000 47 199 0 0 0.003610 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221363 140221363 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140221363C>T ENST00000531613.1 + 1 457 c.457C>T c.(457-459)Ccg>Tcg p.P153S PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P153S|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCGGTTTCCGCTAGAGGG 0.478000 16 79 0 0 0.003163 0 0 LMTK2 22853 broad.mit.edu 37 7 97833295 97833295 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:97833295C>T ENST00000297293.5 + 13 4573 c.4280C>T c.(4279-4281)cCt>cTt p.P1427L NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1427 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TCCCCAGATCCTTTTATGTCA 0.507000 80 113 0 0 0.003610 0 0 ABCC6 368 broad.mit.edu 37 16 16282697 16282697 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:16282697G>A ENST00000205557.7 - 13 1799 c.1770C>T c.(1768-1770)tcC>tcT p.S590S ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 590 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCTGGACGAGGGAGTGGATGG 0.577000 10 17 0 0 0.000673 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676240 37676240 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:37676240C>T ENST00000532828.2 - 5 2450 c.2199G>A c.(2197-2199)ttG>ttA p.L733L CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Silent_p.L678L|ZNF585B_ENST00000312908.5_Silent_p.L321L NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 733 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATGTTTATTCAAATTGGACC 0.458000 48 66 0 0 0.003610 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67222706 67222706 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:67222706C>T ENST00000314586.6 - 4 585 c.345G>A c.(343-345)caG>caA p.Q115Q EXOC3L1_ENST00000562887.1_Intron NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 115 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GCTCTAGAGTCTGTAAGGCCT 0.677000 25 29 0 0 0.003954 0 0 HEPH 9843 broad.mit.edu 37 X 65413379 65413379 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:65413379G>A ENST00000519389.1 + 8 1609 c.1430G>A c.(1429-1431)cGa>cAa p.R477Q HEPH_ENST00000336279.5_Missense_Mutation_p.R156Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R426Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R426Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R423Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R426Q Q9BQS7 HEPH_HUMAN hephaestin 423 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 AGCTCCAGCCGAATTGGGGGC 0.398000 13 9 0 0 0.002450 0 0 CYTIP 9595 broad.mit.edu 37 2 158300411 158300411 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:158300411C>T ENST00000264192.3 - 1 243 c.122G>A c.(121-123)aGg>aAg p.R41K CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 41 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 CATTTGAATCCTTCTATTATC 0.502000 33 47 0 0 0.004289 0 0 CYP2C9 1559 broad.mit.edu 37 10 96701997 96701997 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:96701997C>T ENST00000260682.6 + 3 392 c.380C>T c.(379-381)tCc>tTc p.S127F CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 127 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CGGCGTTTCTCCCTCATGACG 0.498000 9 14 0 0 0.000443 0 0 OR52K2 119774 broad.mit.edu 37 11 4470782 4470782 + Silent SNP C C T rs143954018 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:4470782C>T ENST00000325719.4 + 1 258 c.213C>T c.(211-213)atC>atT p.I71I NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGCAGCCATCGACCTGGTCC 0.532000 29 60 0 0 0.001786 0 0 KMO 8564 broad.mit.edu 37 1 241695763 241695763 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:241695763C>T ENST00000366559.4 + 1 330 c.19C>T c.(19-21)Caa>Taa p.Q7* KMO_ENST00000366558.3_Nonsense_Mutation_p.Q7*|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Nonsense_Mutation_p.Q7* NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 7 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) ATCTGTCATTCAAAGGAAAAA 0.353000 14 48 0 0 0.004990 0 0 CLASP1 23332 broad.mit.edu 37 2 122285422 122285422 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:122285422G>A ENST00000263710.4 - 5 812 c.423C>T c.(421-423)ttC>ttT p.F141F CLASP1_ENST00000397587.3_Silent_p.F141F|CLASP1_ENST00000541377.1_Silent_p.F141F|CLASP1_ENST00000455322.2_Silent_p.F141F|CLASP1_ENST00000409078.3_Silent_p.F141F NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 141 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CTCGAGTACGGAAATTCTTGT 0.438000 21 46 0 0 0.003954 0 0 SMG7 9887 broad.mit.edu 37 1 183506317 183506317 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:183506317C>T ENST00000367537.3 + 12 1483 c.1288C>T c.(1288-1290)Cat>Tat p.H430Y SMG7_ENST00000347615.2_Missense_Mutation_p.H401Y|SMG7_ENST00000515829.2_Missense_Mutation_p.H401Y|SMG7_ENST00000507469.1_Missense_Mutation_p.H401Y|SMG7_ENST00000456731.2_Missense_Mutation_p.H359Y|SMG7_ENST00000508461.1_Missense_Mutation_p.H359Y Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 401 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 GAATAGTTTCCATCCCCATGA 0.388000 23 100 0 0 0.001512 0 0 GABRG3 2567 broad.mit.edu 37 15 27572135 27572135 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:27572135C>T ENST00000333743.6 + 4 704 c.450C>T c.(448-450)ctC>ctT p.L150L GABRG3_ENST00000555083.1_Silent_p.L150L NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 150 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CCAATCAGCTCCTCCGGATTT 0.453000 16 34 0 0 0.004990 0 0 OR10T2 128360 broad.mit.edu 37 1 158368941 158368941 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158368941G>A ENST00000334438.1 - 1 315 c.316C>T c.(316-318)Ctt>Ttt p.L106F NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) GCAAAGCCAAGGAAAAAGAAC 0.493000 30 21 0 0 0.001271 0 0 FGD6 55785 broad.mit.edu 37 12 95488460 95488460 + Nonsense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:95488460C>A ENST00000343958.4 - 15 3731 c.3508G>T c.(3508-3510)Gaa>Taa p.E1170* FGD6_ENST00000549499.1_Nonsense_Mutation_p.E1170*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.E1170* NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1170 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.E1170*(1) breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TCATCCCTTTCTGTGGCAGAA 0.423000 56 73 1.48341e-19 3.1176e-19 0.003610 1 0 GMDS 2762 broad.mit.edu 37 6 1742737 1742737 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:1742737G>A ENST00000380815.4 - 8 1124 c.855C>T c.(853-855)gtC>gtT p.V285V GMDS_ENST00000530927.1_Silent_p.V255V NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 285 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) ATGATTTCTCGACAAATTCCC 0.463000 11 49 0 0 0.000673 0 0 JUP 3728 broad.mit.edu 37 17 39920986 39920986 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:39920986G>A ENST00000393931.3 - 7 1255 c.1137C>T c.(1135-1137)ctC>ctT p.L379L JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.L379L|JUP_ENST00000310706.5_Silent_p.L379L NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 379 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CCACATCTGAGAGGTTGCGCA 0.647000 11 21 0 0 0.001368 0 0 RP1 6101 broad.mit.edu 37 8 55537893 55537893 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:55537893C>T ENST00000220676.1 + 4 1599 c.1451C>T c.(1450-1452)tCa>tTa p.S484L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 484 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGACAGTTTTCATATAGTGAA 0.373000 6 38 0 0 0.001168 0 0 OR8S1 341568 broad.mit.edu 37 12 48919535 48919535 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:48919535G>A ENST00000310194.1 + 1 121 c.121G>A c.(121-123)Gaa>Aaa p.E41K OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E41K(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 GACCATAATGGAAAACCTGAT 0.512000 57 92 0 0 0.003610 0 0 SCAND3 114821 broad.mit.edu 37 6 28543259 28543259 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:28543259G>A ENST00000452236.2 - 3 1840 c.1223C>T c.(1222-1224)tCa>tTa p.S408L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 408 Integrase catalytic. 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 AGACTTTAATGACCGCAAAAA 0.378000 14 28 0 0 0.001855 0 0 SPTBN4 57731 broad.mit.edu 37 19 41025348 41025348 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:41025348G>A ENST00000352632.3 + 16 3030 c.2944G>A c.(2944-2946)Gaa>Aaa p.E982K SPTBN4_ENST00000598249.1_Missense_Mutation_p.E982K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E982K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E982K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E982K Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 982 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGCAAAGAGGAAATGAGCGC 0.657000 15 17 0 0 0.004007 0 0 NMS 129521 broad.mit.edu 37 2 101093845 101093845 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:101093845C>T ENST00000376865.1 + 5 237 c.230C>T c.(229-231)aCt>aTt p.T77I NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 77 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 TACTCCAGAACTCAGGAGGCA 0.393000 14 17 0 0 0.004990 0 0 CD200 4345 broad.mit.edu 37 3 112064089 112064089 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:112064089C>T ENST00000315711.8 + 3 432 c.375C>T c.(373-375)acC>acT p.T125T CD200_ENST00000473539.1_Silent_p.T150T|CD200_ENST00000383681.3_Silent_p.T51T NM_005944.5 NP_005935.4 P41217 OX2G_HUMAN CD200 molecule 125 Ig-like V-type. regulation of immune response integral to plasma membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) TCTTCAATACCTTTGGTTTTG 0.443000 17 40 0 0 0.002780 0 0 BPIFA2 140683 broad.mit.edu 37 20 31760863 31760863 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:31760863A>G ENST00000253362.2 + 3 429 c.283A>G c.(283-285)Act>Gct p.T95A BPIFA2_ENST00000354932.5_Missense_Mutation_p.T95A Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 95 extracellular region lipid binding GCTGCTTCCAACTAACACGGA 0.448000 4 96 0 0 0.000248 0 0 ZNF560 147741 broad.mit.edu 37 19 9581123 9581123 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9581123C>T ENST00000301480.4 - 7 606 c.393G>A c.(391-393)caG>caA p.Q131Q NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 131 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 ACAGGTTTCTCTGAGCTGGGT 0.478000 17 63 0 0 0.004990 0 0 HTR3C 170572 broad.mit.edu 37 3 183777792 183777792 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:183777792G>A ENST00000318351.1 + 8 1136 c.1102G>A c.(1102-1104)Gga>Aga p.G368R NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 368 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity p.G368K(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GCCCCAGAAGGGAAATAAGGG 0.642000 4 15 0 0 0.000248 0 0 GIT2 9815 broad.mit.edu 37 12 110390905 110390905 + Missense_Mutation SNP G G A rs143551429 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:110390905G>A ENST00000360185.4 - 13 1398 c.1234C>T c.(1234-1236)Cgg>Tgg p.R412W GIT2_ENST00000553118.1_Missense_Mutation_p.R412W|GIT2_ENST00000356259.4_Missense_Mutation_p.R412W|GIT2_ENST00000551209.1_Missense_Mutation_p.R411W|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.R412W|GIT2_ENST00000547815.1_Missense_Mutation_p.R412W|GIT2_ENST00000320063.9_Missense_Mutation_p.R412W|GIT2_ENST00000457474.2_Missense_Mutation_p.R414W|GIT2_ENST00000355312.3_Missense_Mutation_p.R412W|GIT2_ENST00000354574.4_Missense_Mutation_p.R414W|GIT2_ENST00000361006.5_Missense_Mutation_p.R412W Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 412 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 ACCTTCTGCCGGTTTGTTTTG 0.547000 9 51 0 0 0.000443 0 0 SLC41A1 254428 broad.mit.edu 37 1 205760769 205760769 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:205760769G>A ENST00000367137.3 - 11 2448 c.1434C>T c.(1432-1434)tcC>tcT p.S478S SLC41A1_ENST00000468057.1_5'UTR NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 478 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) AGTATGGGATGGAGAAGTTGT 0.602000 OREG0014162 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 22 0 0 0.002522 0 0 ADAM28 10863 broad.mit.edu 37 8 24181423 24181423 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:24181423C>T ENST00000265769.4 + 9 907 c.797C>T c.(796-798)aCc>aTc p.T266I RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.T266I|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Missense_Mutation_p.T33I|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.T13I|RP11-624C23.1_ENST00000523700.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 266 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ATAAAGATAACCCCAAATGCA 0.378000 4 6 0 0 0.000248 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214287 140214287 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140214287G>A ENST00000525929.1 + 1 319 c.319G>A c.(319-321)Gag>Aag p.E107K PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E107K|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCACCTGGAGGTGATCGT 0.552000 14 228 0 0 0.001523 0 0 PLBD1 79887 broad.mit.edu 37 12 14706247 14706247 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:14706247T>G ENST00000240617.5 - 2 867 c.215A>C c.(214-216)aAc>aCc p.N72T NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 72 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 TTTCACAGAGTTATTGTAAAA 0.463000 27 42 0 0 0.004656 0 0 RASAL2 9462 broad.mit.edu 37 1 178442335 178442335 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:178442335C>T ENST00000448150.3 + 18 4589 c.3771C>T c.(3769-3771)tcC>tcT p.S1257S RASAL2_ENST00000462775.1_Silent_p.S1127S|RASAL2_ENST00000367649.3_Silent_p.S1268S NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 1127 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CCAAGCTTTCCATCACGGAGA 0.542000 39 27 0 0 0.002522 0 0 DNM3 26052 broad.mit.edu 37 1 171956893 171956893 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:171956893G>A ENST00000358155.4 + 3 509 c.333G>A c.(331-333)atG>atA p.M111I DNM3_ENST00000355305.5_Missense_Mutation_p.M111I|DNM3_ENST00000520906.1_Missense_Mutation_p.M111I|DNM3_ENST00000367733.2_Missense_Mutation_p.M111I|DNM3_ENST00000367731.1_Missense_Mutation_p.M111I NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 111 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TGACTGGAATGAATAAAGGCA 0.353000 94 80 0 0 0.003610 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301775 42301775 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:42301775C>T ENST00000357396.3 + 2 560 c.319C>T c.(319-321)Ctg>Ttg p.L107L CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Silent_p.L107L|CEACAM3_ENST00000221999.4_Silent_p.L107L NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 107 Ig-like V-type. integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CAATGCATCCCTGCTGATCCA 0.453000 43 149 0 0 0.001706 0 0 TRPC7 57113 broad.mit.edu 37 5 135583383 135583383 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:135583383C>T ENST00000513104.1 - 7 1902 c.1620G>A c.(1618-1620)tcG>tcA p.S540S TRPC7_ENST00000426057.2_Silent_p.S424S|TRPC7_ENST00000355180.3_Silent_p.S479S NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 540 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGAGCCCTTCCGATATGATCT 0.522000 6 72 0 0 0.001168 0 0 TRPM6 140803 broad.mit.edu 37 9 77343241 77343241 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:77343241C>T ENST00000451710.3 - 37 6098 c.5861G>A c.(5860-5862)gGa>gAa p.G1954E TRPM6_ENST00000449912.2_Missense_Mutation_p.G1945E|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1950E|TRPM6_ENST00000376872.3_Missense_Mutation_p.G905E|TRPM6_ENST00000376871.3_Missense_Mutation_p.G787E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1945E Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1950 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ATTGGCCGGTCCAAACACCAT 0.433000 18 15 0 0 0.004990 0 0 AGBL1 123624 broad.mit.edu 37 15 86807805 86807805 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:86807805G>A ENST00000441037.2 + 10 1360 c.1265G>A c.(1264-1266)tGg>tAg p.W422* AGBL1_ENST00000389298.3_Nonsense_Mutation_p.W153*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.W422* NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 422 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GCAGATGCCTGGGACGTAGAT 0.443000 24 74 0 0 0.002780 0 0 UGT3A1 133688 broad.mit.edu 37 5 35954472 35954472 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:35954472C>T ENST00000274278.3 - 7 1761 c.1404G>A c.(1402-1404)gcG>gcA p.A468A NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 468 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) TGAGGTGCGTCGCTCCCCCAG 0.617000 10 19 0 0 0.000443 0 0 ADAM30 11085 broad.mit.edu 37 1 120437739 120437739 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:120437739C>T ENST00000369400.1 - 1 1379 c.1221G>A c.(1219-1221)gtG>gtA p.V407V NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 407 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CATTGTCCTCCACAATTTTGT 0.403000 33 861 0 0 0.002445 0 0 OR4K2 390431 broad.mit.edu 37 14 20345254 20345254 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:20345254C>T ENST00000298642.2 + 1 864 c.828C>T c.(826-828)acC>acT p.T276T NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTTTATACCATCTTTACTC 0.358000 15 27 0 0 0.004990 0 0 ZNF19 7567 broad.mit.edu 37 16 71509173 71509173 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:71509173G>T ENST00000288177.5 - 6 1532 c.1277C>A c.(1276-1278)tCc>tAc p.S426Y ZNF19_ENST00000565637.1_Missense_Mutation_p.S384Y|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.S356Y|ZNF19_ENST00000564230.1_Missense_Mutation_p.S426Y NM_006961.3 NP_008892.2 P17023 ZNF19_HUMAN zinc finger protein 19 426 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1) 22 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) ACCTAGCTGGGAAGAAGTCCC 0.453000 11 41 6.40141e-05 0.000132825 0.000978 1 0 ARID2 196528 broad.mit.edu 37 12 46230691 46230691 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:46230691C>T ENST00000334344.6 + 8 1112 c.940C>T c.(940-942)Cgt>Tgt p.R314C ARID2_ENST00000422737.1_Missense_Mutation_p.R165C|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 314 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.R314S(1)|p.R314C(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TACCTGTCTTCGTTTCCTATT 0.398000 """N, S, F""" hepatocellular carcinoma 20 66 0 0 0.000958 0 0 SPRY3 10251 broad.mit.edu 37 X 155003687 155003687 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:155003687G>A ENST00000302805.2 + 2 585 c.154G>A c.(154-156)Gat>Aat p.D52N NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 52 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCACAAGTCTGATTGGTCTCT 0.562000 54 94 0 0 0.003610 0 0 OR7D2 162998 broad.mit.edu 37 19 9297116 9297116 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9297116G>A ENST00000344248.2 + 1 838 c.659G>A c.(658-660)cGa>cAa p.R220Q NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 220 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 TCTTATTCACGAATTGCTTCA 0.463000 31 43 0 0 0.002096 0 0 GPSM1 26086 broad.mit.edu 37 9 139252515 139252515 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:139252515G>A ENST00000440944.1 + 14 2091 c.1871G>A c.(1870-1872)cGg>cAg p.R624Q GPSM1_ENST00000429455.1_Missense_Mutation_p.R115Q|GPSM1_ENST00000392944.1_Missense_Mutation_p.R115Q NM_001145638.1 NP_001139110.1 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 624 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GTACTGCCCCGGGGCCCTACC 0.687000 16 15 0 0 0.000958 0 0 GJA5 2702 broad.mit.edu 37 1 147230570 147230570 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:147230570C>T ENST00000271348.2 - 2 938 c.777G>A c.(775-777)caG>caA p.Q259Q GJA5_ENST00000369237.1_Silent_p.Q259Q NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 259 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) GTGTGCAGCTCTGGACTATGC 0.532000 28 44 0 0 0.005443 0 0 PTX4 390667 broad.mit.edu 37 16 1535943 1535943 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:1535943G>A ENST00000447419.2 - 3 1459 c.1434C>T c.(1432-1434)ccC>ccT p.P478P PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Silent_p.P473P Q96A99 PTX4_HUMAN pentraxin 4, long 478 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 CTCGGCCTCAGGGACAGCGTT 0.657000 4 11 0 0 0.000602 0 0 ZNF426 79088 broad.mit.edu 37 19 9640026 9640026 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9640026G>A ENST00000593003.1 - 6 1058 c.581C>T c.(580-582)tCc>tTc p.S194F ZNF426_ENST00000253115.2_Missense_Mutation_p.S232F|ZNF426_ENST00000535489.1_Missense_Mutation_p.S232F|ZNF426_ENST00000589289.1_3'UTR Q9BUY5 ZN426_HUMAN zinc finger protein 426 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 ATTAATGAAGGATTTTCCACA 0.368000 57 98 0 0 0.003610 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720162 160720162 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:160720162C>T ENST00000368043.3 + 4 755 c.718C>T c.(718-720)Ctc>Ttc p.L240F SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.L133F|SLAMF7_ENST00000359331.4_Missense_Mutation_p.L240F NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 240 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCTGCTCAGTCTCTTTGTACT 0.502000 46 219 0 0 0.003214 0 0 ADAM33 80332 broad.mit.edu 37 20 3655221 3655221 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:3655221C>T ENST00000356518.2 - 6 771 c.530G>A c.(529-531)gGa>gAa p.G177E ADAM33_ENST00000379861.4_Missense_Mutation_p.G177E|ADAM33_ENST00000350009.2_Missense_Mutation_p.G177E NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 177 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GCCACAGGTTCCTTTCCAGGT 0.607000 45 85 0 0 0.003610 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642974 1642974 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:1642974G>A ENST00000399682.1 - 1 394 c.350C>T c.(349-351)tCc>tTc p.S117F NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 117 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCCCCCTTGGAACCCCCACA 0.667000 21 53 0 0 0.004656 0 0 OR13G1 441933 broad.mit.edu 37 1 247835467 247835467 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:247835467C>T ENST00000359688.2 - 1 898 c.877G>A c.(877-879)Gag>Aag p.E293K RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GCCTGCATCTCCCTATTCTGG 0.433000 25 25 0 0 0.003954 0 0 LEPR 3953 broad.mit.edu 37 1 66102375 66102375 + Missense_Mutation SNP G G A rs56117117 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:66102375G>A ENST00000349533.6 + 20 3360 c.3175G>A c.(3175-3177)Gaa>Aaa p.E1059K LEPR_ENST00000406510.3_Missense_Mutation_p.E126K NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1059 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGGATTGGATGAACTTTTGAA 0.368000 39 68 0 0 0.002852 0 0 C7orf10 79783 broad.mit.edu 37 7 40228112 40228112 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:40228112G>A ENST00000309930.5 + 4 290 c.266G>A c.(265-267)cGa>cAa p.R89Q C7orf10_ENST00000401647.2_Missense_Mutation_p.R89Q|C7orf10_ENST00000540834.1_Missense_Mutation_p.R82Q|C7orf10_ENST00000335693.4_Missense_Mutation_p.R89Q NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 89 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 GATGATACACGAACTTGGGGG 0.338000 16 35 0 0 0.002299 0 0 DDX23 9416 broad.mit.edu 37 12 49228130 49228130 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:49228130C>T ENST00000308025.3 - 12 1612 c.1533G>A c.(1531-1533)caG>caA p.Q511Q NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 511 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 GCCTGAAGCCCTGGTCTTCTC 0.512000 15 28 0 0 0.006122 0 0 COL6A6 131873 broad.mit.edu 37 3 130311917 130311917 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:130311917G>A ENST00000358511.6 + 15 4415 c.4384G>A c.(4384-4386)Gaa>Aaa p.E1462K COL6A6_ENST00000453409.2_Missense_Mutation_p.E1462K NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1462 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AGAAGTTGGGGAAAATGGAAT 0.368000 80 168 0 0 0.003610 0 0 MUC17 140453 broad.mit.edu 37 7 100683297 100683297 + Missense_Mutation SNP G G A rs141281393 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:100683297G>A ENST00000306151.4 + 3 8664 c.8600G>A c.(8599-8601)gGa>gAa p.G2867E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2867 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) GCTAGTGAAGGAAGTACTCTA 0.493000 106 226 0 0 0.003610 0 0 ABCA4 24 broad.mit.edu 37 1 94564365 94564365 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:94564365G>A ENST00000370225.3 - 6 839 c.753C>T c.(751-753)ttC>ttT p.F251F ABCA4_ENST00000535735.1_Silent_p.F251F NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 251 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGAAGAGCTTGAAGAAGTCCA 0.582000 19 39 0 0 0.006122 0 0 SLC2A5 6518 broad.mit.edu 37 1 9117614 9117614 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:9117614C>T ENST00000377424.4 - 3 365 c.186G>A c.(184-186)atG>atA p.M62I SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Missense_Mutation_p.M62I NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 62 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GGAAGTCTTCCATGAATTCAC 0.443000 16 14 0 0 0.006122 0 0 DNAH5 1767 broad.mit.edu 37 5 13762855 13762855 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:13762855T>C ENST00000265104.4 - 60 10361 c.10257A>G c.(10255-10257)atA>atG p.I3419M NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3419 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTCTTTGTTTATAGAAAAGA 0.478000 Kartagener syndrome 26 29 0 0 0.001271 0 0 PCDH9 5101 broad.mit.edu 37 13 67800118 67800118 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:67800118T>C ENST00000544246.1 - 2 3146 c.2455A>G c.(2455-2457)Atc>Gtc p.I819V PCDH9_ENST00000377865.2_Missense_Mutation_p.I819V|PCDH9_ENST00000328454.5_Missense_Mutation_p.I819V|PCDH9_ENST00000456367.1_Missense_Mutation_p.I819V|PCDH9_ENST00000377861.3_Missense_Mutation_p.I819V NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 819 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CCGGCGATGATGGCAATCATG 0.512000 43 53 0 0 0.003610 0 0 THSD7B 80731 broad.mit.edu 37 2 138033596 138033596 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:138033596G>A ENST00000409968.1 + 12 2678 c.2500_splice c.e12+1 p.A834_splice THSD7B_ENST00000272643.3_Splice_Site_p.A834_splice|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Splice_Site_p.A803_splice thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ACAAACAAGAGGTATGATGAT 0.368000 4 4 0 0 0.000248 0 0 TRIM33 51592 broad.mit.edu 37 1 114973461 114973461 + Nonsense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:114973461C>A ENST00000358465.2 - 6 1197 c.1114G>T c.(1114-1116)Gaa>Taa p.E372* TRIM33_ENST00000450349.2_5'UTR|TRIM33_ENST00000369543.2_Nonsense_Mutation_p.E372* NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 372 Necessary for oligomerization. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTATTAATTTCATTGATAAGG 0.323000 T RET papillary thyroid 52 92 1.13709e-37 2.39934e-37 0.003610 1 0 MUC16 94025 broad.mit.edu 37 19 9088751 9088751 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9088751G>A ENST00000397910.4 - 1 3267 c.3064C>T c.(3064-3066)Ctc>Ttc p.L1022F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1022 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 TCTGTTGTGAGGATGGTTGTT 0.468000 33 156 0 0 0.002836 0 0 PKP2 5318 broad.mit.edu 37 12 32996185 32996185 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:32996185G>A ENST00000070846.6 - 6 1465 c.1441C>T c.(1441-1443)Ccc>Tcc p.P481S PKP2_ENST00000340811.4_Intron NM_004572.3 NP_004563.2 Q99959 PKP2_HUMAN plakophilin 2 481 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) aaagtgctgggattacaggcg 0.537000 7 28 0 0 0.001984 0 0 POTEG 404785 broad.mit.edu 37 14 19553564 19553564 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:19553564G>A ENST00000409832.3 + 1 200 c.148G>A c.(148-150)Gac>Aac p.D50N NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 50 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TGGAGACCACGACGATTCTGC 0.607000 42 527 0 0 0.003610 0 0 THSD7B 80731 broad.mit.edu 37 2 138421075 138421075 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:138421075G>A ENST00000409968.1 + 26 4759 c.4581G>A c.(4579-4581)ggG>ggA p.G1527G THSD7B_ENST00000272643.3_Silent_p.G1530G|THSD7B_ENST00000413152.2_Silent_p.G1499G thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ACCTTTCTGGGAAAAACAGAC 0.363000 4 9 0 0 0.000602 0 0 MKNK2 2872 broad.mit.edu 37 19 2043509 2043509 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:2043509C>T ENST00000250896.3 - 6 656 c.412G>A c.(412-414)Gga>Aga p.G138R MKNK2_ENST00000309340.7_Missense_Mutation_p.G138R|MKNK2_ENST00000541165.1_Missense_Mutation_p.G7R|MKNK2_ENST00000591601.1_Missense_Mutation_p.G138R NM_199054.2 NP_951009.1 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 138 Protein kinase. cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(3)|large_intestine(3)|lung(3) 10 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACCTGTGTCCCTGGCACTGG 0.577000 16 23 0 0 0.004990 0 0 FRS2 10818 broad.mit.edu 37 12 69965066 69965066 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:69965066C>T ENST00000299293.2 + 8 774 c.264C>T c.(262-264)gcC>gcT p.A88A FRS2_ENST00000397997.2_Silent_p.A88A|FRS2_ENST00000550389.1_Silent_p.A88A|FRS2_ENST00000549921.1_Silent_p.A88A NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 88 IRS-type PTB. activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GAATCTTTGCCTTTAAGTGTG 0.308000 OREG0021986 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 36 0 0 0.001855 0 0 LMOD3 56203 broad.mit.edu 37 3 69169130 69169130 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:69169130C>T ENST00000420581.2 - 2 555 c.376G>A c.(376-378)Gaa>Aaa p.E126K LMOD3_ENST00000475434.1_Missense_Mutation_p.E126K|LMOD3_ENST00000489031.1_Missense_Mutation_p.E126K NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 126 Glu-rich. cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) GCAACTATTTCATTATTGAGC 0.338000 7 18 0 0 0.001984 0 0 CLSTN2 64084 broad.mit.edu 37 3 140178488 140178488 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:140178488C>A ENST00000458420.3 + 7 1289 c.1099C>A c.(1099-1101)Ccc>Acc p.P367T RP11-68L1.2_ENST00000503357.1_RNA NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 367 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TGCCAAAGTCCCCGATGGGAT 0.572000 HNSCC(16;0.037) 18 33 1.33834e-09 2.79041e-09 0.000958 1 0 AMPD1 270 broad.mit.edu 37 1 115219982 115219982 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:115219982G>A ENST00000369538.3 - 9 1512 c.1465C>T c.(1465-1467)Ccc>Tcc p.P489S AMPD1_ENST00000353928.6_Missense_Mutation_p.P460S|AMPD1_ENST00000520113.2_Missense_Mutation_p.P493S NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 460 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TAGATCCTGGGAACCTGGATC 0.522000 29 47 0 0 0.002096 0 0 PLCE1 51196 broad.mit.edu 37 10 96058180 96058180 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:96058180C>T ENST00000260766.3 + 24 5846 c.5212C>T c.(5212-5214)Cct>Tct p.P1738S PLCE1_ENST00000371380.2_Missense_Mutation_p.P1738S|PLCE1_ENST00000371385.3_Missense_Mutation_p.P1430S|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1430S NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1738 PI-PLC Y-box.|Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity). activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) ATCTTCTTCCCCTCTCAACCC 0.453000 20 57 0 0 0.001523 0 0 CCNL2 81669 broad.mit.edu 37 1 1322837 1322837 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:1322837G>A ENST00000400809.3 - 11 1342 c.1337C>T c.(1336-1338)tCc>tTc p.S446F CCNL2_ENST00000408952.5_Missense_Mutation_p.S224F|CCNL2_ENST00000505849.1_5'UTR NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 446 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GGACTTCCGGGAGCCCCGAAT 0.642000 10 15 0 0 0.000673 0 0 TLR4 7099 broad.mit.edu 37 9 120476461 120476461 + Silent SNP G G A rs141222130 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:120476461G>A ENST00000355622.6 + 3 2156 c.2055G>A c.(2053-2055)gaG>gaA p.E685E TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.E645E NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 685 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GCCAGGATGAGGACTGGGTAA 0.433000 14 9 0 0 0.002450 0 0 SFMBT2 57713 broad.mit.edu 37 10 7290601 7290601 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:7290601T>G ENST00000361972.4 - 8 971 c.881A>C c.(880-882)gAt>gCt p.D294A SFMBT2_ENST00000397167.1_Missense_Mutation_p.D294A NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 294 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GCTTCGCAAATCTGCGTGATC 0.473000 5 28 0 0 0.000602 0 0 GNAZ 2781 broad.mit.edu 37 22 23438263 23438263 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:23438263C>T ENST00000248996.4 + 2 1047 c.381C>T c.(379-381)gtC>gtT p.V127V RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 127 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TGCTGGGTGTCATGCGACGGC 0.667000 26 43 0 0 0.004656 0 0 LSR 51599 broad.mit.edu 37 19 35757850 35757850 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:35757850C>T ENST00000602122.1 + 7 1695 c.1208C>T c.(1207-1209)cCc>cTc p.P403L LSR_ENST00000360798.3_Missense_Mutation_p.P355L|LSR_ENST00000354900.3_Missense_Mutation_p.P404L|LSR_ENST00000347609.4_Missense_Mutation_p.P365L|LSR_ENST00000361790.3_Missense_Mutation_p.P423L|LSR_ENST00000427250.1_Missense_Mutation_p.P267L Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 423 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCTGGCCCCCCCAGTGGCCGT 0.622000 10 25 0 0 0.000978 0 0 KMT2B 9757 broad.mit.edu 37 19 36217254 36217254 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:36217254G>A ENST00000420124.1 + 14 4003 c.4003_splice c.e14+1 p.G1335_splice WBP7_ENST00000222270.7_Splice_Site_p.G1335_splice|KMT2B_ENST00000607650.1_RNA ATATGAGAAAGGTGGGGACCG 0.582000 14 29 0 0 0.004007 0 0 SPATC1 375686 broad.mit.edu 37 8 145095479 145095479 + Silent SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:145095479C>A ENST00000377470.3 + 3 879 c.777C>A c.(775-777)tcC>tcA p.S259S SPATC1_ENST00000447830.2_Silent_p.S259S NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 259 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCCACTCTCCACTGAGCCCC 0.622000 15 46 1.00905e-13 2.11502e-13 0.001216 1 0 NOS3 4846 broad.mit.edu 37 7 150698458 150698458 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:150698458C>T ENST00000297494.3 + 11 1730 c.1373C>T c.(1372-1374)cCt>cTt p.P458L NOS3_ENST00000461406.1_Missense_Mutation_p.P252L|NOS3_ENST00000467517.1_Missense_Mutation_p.P458L|NOS3_ENST00000484524.1_Missense_Mutation_p.P458L NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 458 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) AGCCTCACTCCTGTTTTCCAT 0.612000 20 49 0 0 0.001523 0 0 STARD8 9754 broad.mit.edu 37 X 67937433 67937433 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:67937433A>T ENST00000252336.6 + 5 809 c.437A>T c.(436-438)cAa>cTa p.Q146L STARD8_ENST00000374599.3_Missense_Mutation_p.Q226L|STARD8_ENST00000374597.3_Missense_Mutation_p.Q146L NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 146 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 GGCAGCCAGCAAGCAGAGCCC 0.557000 20 8 0 0 0.000958 0 0 ANO4 121601 broad.mit.edu 37 12 101430917 101430917 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:101430917C>T ENST00000392979.3 + 9 1142 c.781C>T c.(781-783)Ccc>Tcc p.P261S ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.P296S NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 296 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGCTGCGTTTCCCCTGCATGA 0.348000 HNSCC(74;0.22) 35 96 0 0 0.001951 0 0 TRIM36 55521 broad.mit.edu 37 5 114513559 114513559 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:114513559A>G ENST00000379617.2 - 2 582 c.74T>C c.(73-75)aTg>aCg p.M25T TRIM36_ENST00000282369.3_Intron|TRIM36_ENST00000379618.2_Intron|TRIM36_ENST00000514154.1_Intron NM_001017398.1 NP_001017398.1 Q9NQ86 TRI36_HUMAN tripartite motif containing 36 25 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) CTGCAGGCCCATTGCTGAAGC 0.473000 4 58 0 0 0.000248 0 0 RET 5979 broad.mit.edu 37 10 43623695 43623695 + Nonsense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:43623695T>A ENST00000355710.3 + 20 3555 c.3323T>A c.(3322-3324)tTa>tAa p.L1108* NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 1108 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GCGGCAAAATTAATGGACACG 0.428000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 6 61 0 0 0.001168 0 0 PKD1L2 114780 broad.mit.edu 37 16 81181949 81181949 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:81181949G>A ENST00000533478.1 - 0 2822 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCTGCCAGGTGAATTCAATTT 0.572000 17 50 0 0 0.000958 0 0 NBEAL1 65065 broad.mit.edu 37 2 204045169 204045169 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:204045169C>T ENST00000449802.1 + 42 6775 c.6442C>T c.(6442-6444)Cca>Tca p.P2148S NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2148 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TATGGATAATCCATATGATGT 0.333000 170 290 0 0 0.003610 0 0 OR10H1 26539 broad.mit.edu 37 19 15918298 15918298 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:15918298G>A ENST00000334920.2 - 1 638 c.550C>T c.(550-552)Ctg>Ttg p.L184L NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 AACTTCAACAGAGGTGGCACA 0.572000 12 59 0 0 0.000978 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762118 92762118 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:92762118G>A ENST00000318238.4 - 5 4383 c.3167C>T c.(3166-3168)tCc>tTc p.S1056F SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1056F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1056F NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1056 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CATTAATGGGGAAAACAGAGT 0.393000 33 21 0 0 0.004878 0 0 SMC1B 27127 broad.mit.edu 37 22 45757743 45757743 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:45757743C>T ENST00000357450.4 - 17 2683 c.2684G>A c.(2683-2685)cGg>cAg p.R895Q SMC1B_ENST00000404354.3_Missense_Mutation_p.R895Q NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 895 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) AAACTTCTTCCGTTCCTCTTC 0.398000 6 131 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179397187 179397187 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179397187C>T ENST00000589042.1 - 358 104379 c.104155G>A c.(104155-104157)Gtg>Atg p.V34719M TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V33078M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V25654M|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V25779M|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V32151M|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V25846M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33078 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) GTTTCCTCCACCTTGACATGA 0.473000 11 61 0 0 0.000978 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627581 43627581 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:43627581G>A ENST00000332857.6 - 4 1134 c.1106C>T c.(1105-1107)tCa>tTa p.S369L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 AGCATCCAATGATTTAGCCAA 0.443000 10 343 0 0 0.000978 0 0 NRSN1 140767 broad.mit.edu 37 6 24146112 24146112 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:24146112G>A ENST00000378491.4 + 4 827 c.526G>A c.(526-528)Gaa>Aaa p.E176K NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 176 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 AGGGCCAGGGGAAACAAAGAT 0.473000 18 46 0 0 0.001216 0 0 COL6A1 1291 broad.mit.edu 37 21 47423519 47423519 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:47423519C>T ENST00000361866.3 + 35 2793 c.2679C>T c.(2677-2679)ttC>ttT p.F893F COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 893 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) CGCTGCAGTTCCTGCAGAACT 0.672000 10 19 0 0 0.000673 0 0 FREM1 158326 broad.mit.edu 37 9 14770703 14770703 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:14770703G>A ENST00000380881.4 - 27 5777 c.4962C>T c.(4960-4962)tcC>tcT p.S1654S FREM1_ENST00000380894.1_Silent_p.S189S|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Silent_p.S1653S|FREM1_ENST00000380880.3_Silent_p.S1653S Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1653 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCAACACGCGGGAAGTGATGT 0.468000 12 6 0 0 0.002450 0 0 VPS33A 65082 broad.mit.edu 37 12 122723159 122723159 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:122723159T>A ENST00000267199.4 - 10 1389 c.1277A>T c.(1276-1278)gAt>gTt p.D426V RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.D387V NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 426 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) TTTGTAATAATCCAAAACTTT 0.383000 46 98 0 0 0.003610 0 0 ZNF318 24149 broad.mit.edu 37 6 43324955 43324955 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:43324955G>A ENST00000361428.2 - 3 1174 c.1097C>T c.(1096-1098)tCt>tTt p.S366F ZNF318_ENST00000318149.3_Missense_Mutation_p.S366F NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 366 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CCGATGCAAAGAATATCCTGG 0.512000 13 53 0 0 0.001368 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68029204 68029204 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:68029204C>T ENST00000329153.5 + 7 988 c.856C>T c.(856-858)Ctg>Ttg p.L286L NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 286 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) GGGTGAGGGTCTGGTTACTGC 0.582000 12 20 0 0 0.001855 0 0 IYD 389434 broad.mit.edu 37 6 150690288 150690288 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:150690288C>T ENST00000344419.3 + 1 261 c.121C>T c.(121-123)Cgc>Tgc p.R41C IYD_ENST00000392255.3_Missense_Mutation_p.R41C|IYD_ENST00000500320.3_Missense_Mutation_p.R41C|IYD_ENST00000229447.5_Missense_Mutation_p.R41C|IYD_ENST00000392256.2_Missense_Mutation_p.R41C NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 41 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) GGCCGAAGCTCGCCCCTGGGT 0.498000 36 65 0 0 0.003755 0 0 GMDS 2762 broad.mit.edu 37 6 1742793 1742793 + Missense_Mutation SNP C C T rs146652291 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:1742793C>T ENST00000380815.4 - 8 1068 c.799G>A c.(799-801)Gag>Aag p.E267K GMDS_ENST00000530927.1_Missense_Mutation_p.E237K NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 267 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) TCCTCCGGCTCATCATTCTGC 0.443000 9 59 0 0 0.000978 0 0 SERPINB2 5055 broad.mit.edu 37 18 61565055 61565055 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:61565055C>T ENST00000457692.1 + 6 845 c.512C>T c.(511-513)tCc>tTc p.S171F SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.S171F NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 171 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity p.S171F(1) NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) AAGATTAATTCCTGGGTCAAG 0.343000 19 7 0 0 0.001882 0 0 TNFSF11 8600 broad.mit.edu 37 13 43180898 43180898 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:43180898G>A ENST00000398795.2 + 5 947 c.579G>A c.(577-579)ggG>ggA p.G193G TNFSF11_ENST00000405262.2_Silent_p.G193G|TNFSF11_ENST00000544862.1_Silent_p.G193G|TNFSF11_ENST00000358545.2_Silent_p.G193G|TNFSF11_ENST00000239849.6_Silent_p.G266G NM_003701.3 NP_003692.1 O14788 TNF11_HUMAN tumor necrosis factor (ligand) superfamily, member 11 266 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding p.G266G(1) kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) ATTGGTCAGGGAATTCTGAAT 0.423000 8 72 0 0 0.003080 0 0 CHD5 26038 broad.mit.edu 37 1 6202331 6202331 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:6202331C>T ENST00000262450.3 - 15 2392 c.2293G>A c.(2293-2295)Gaa>Aaa p.E765K CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 765 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AACTCGCGTTCCCAGTTGATG 0.612000 21 21 0 0 0.002780 0 0 CYP2C18 1562 broad.mit.edu 37 10 96466568 96466568 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:96466568G>A ENST00000285979.6 + 5 869 c.670G>A c.(670-672)Gat>Aat p.D224N CYP2C18_ENST00000339022.5_Intron|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TGCTCTCATCGATTATCTCCC 0.303000 4 20 0 0 0.000602 0 0 LTN1 26046 broad.mit.edu 37 21 30329142 30329142 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:30329142C>T ENST00000361371.4 - 16 3171 c.3021G>A c.(3019-3021)atG>atA p.M1007I LTN1_ENST00000389194.2_Missense_Mutation_p.M1053I NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1007 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CAATTAAGACCATTTTGCTCA 0.303000 5 20 0 0 0.001984 0 0 KDR 3791 broad.mit.edu 37 4 55955863 55955863 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:55955863G>A ENST00000263923.4 - 24 3594 c.3299C>T c.(3298-3300)tCc>tTc p.S1100F RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1100 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTTACCTAAGGAAAATATTTC 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 40 93 0 0 0.002852 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724994 140724994 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140724994A>G ENST00000253812.6 + 1 1394 c.1394A>G c.(1393-1395)aAc>aGc p.N465S PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGAAAACAACCCCAGAGGA 0.522000 47 88 0 0 0.003610 0 0 MDN1 23195 broad.mit.edu 37 6 90402561 90402561 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:90402561G>A ENST00000369393.3 - 63 10303 c.10188C>T c.(10186-10188)gcC>gcT p.A3396A MDN1_ENST00000428876.1_Silent_p.A3396A Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3396 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.A3396A(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTGGGCTCACGGCATCTGGAT 0.562000 13 51 0 0 0.002450 0 0 RYR1 6261 broad.mit.edu 37 19 38934823 38934823 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:38934823C>T ENST00000355481.4 + 6 590 c.459C>T c.(457-459)tcC>tcT p.S153S RYR1_ENST00000359596.3_Silent_p.S153S|RYR1_ENST00000360985.3_Silent_p.S153S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 153 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACCCAGCCTCCAAGCAGAGGT 0.587000 11 33 0 0 0.001855 0 0 ZNF676 163223 broad.mit.edu 37 19 22362851 22362851 + Silent SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:22362851A>T ENST00000397121.2 - 3 1985 c.1668T>A c.(1666-1668)acT>acA p.T556T NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTTTCTCTCCAGTATGAATTC 0.373000 8 34 0 0 0.000443 0 0 CPAMD8 27151 broad.mit.edu 37 19 17057916 17057916 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:17057916G>A ENST00000443236.1 - 21 2802 c.2771C>T c.(2770-2772)tCc>tTc p.S924F NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 877 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTCGCTGAAGGACAGAACGAC 0.602000 25 91 0 0 0.003954 0 0 ZNF43 7594 broad.mit.edu 37 19 22002001 22002001 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:22002001A>G ENST00000594012.1 - 5 522 c.8T>C c.(7-9)gTg>gCg p.V3A ZNF43_ENST00000598288.1_Missense_Mutation_p.V3A|ZNF43_ENST00000598381.1_Missense_Mutation_p.V3A|ZNF43_ENST00000354959.4_Missense_Mutation_p.V9A|ZNF43_ENST00000595461.1_Missense_Mutation_p.V3A NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TTCTATGGCCACATCCATAAA 0.398000 23 57 0 0 0.002299 0 0 CEP250 11190 broad.mit.edu 37 20 34067172 34067172 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:34067172G>A ENST00000397527.1 + 18 2931 c.2211G>A c.(2209-2211)gaG>gaA p.E737E RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Silent_p.E737E|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 737 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) TAGTACGAGAGAAAGCGGCTC 0.617000 50 94 0 0 0.003610 0 0 GLI3 2737 broad.mit.edu 37 7 42005140 42005140 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:42005140G>A ENST00000395925.3 - 15 3615 c.3531C>T c.(3529-3531)ctC>ctT p.L1177L GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1177 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GCCCACACTTGAGCTTGGAGG 0.667000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 58 98 0 0 0.003610 0 0 VIPR2 7434 broad.mit.edu 37 7 158896490 158896490 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:158896490G>A ENST00000262178.2 - 4 500 c.315C>T c.(313-315)ttC>ttT p.F105F VIPR2_ENST00000402066.1_Silent_p.F246F NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 105 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) AGGCATCGACGAAATCTGGGA 0.498000 25 48 0 0 0.005443 0 0 CACNA1B 774 broad.mit.edu 37 9 140967990 140967990 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:140967990G>A ENST00000277549.5 + 33 4876 c.2307G>A c.(2305-2307)ctG>ctA p.L769L CACNA1B_ENST00000277551.2_Silent_p.L1575L|CACNA1B_ENST00000371372.1_Silent_p.L1575L|CACNA1B_ENST00000371355.4_Silent_p.L1576L|CACNA1B_ENST00000371357.1_Silent_p.L1574L|CACNA1B_ENST00000371363.1_Silent_p.L1573L Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1575 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTGCGCGGCTGATCAAGCTGC 0.577000 7 75 0 0 0.000443 0 0 CAGE1 285782 broad.mit.edu 37 6 7374301 7374301 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:7374301C>T ENST00000502583.1 - 5 1315 c.751G>A c.(751-753)Gaa>Aaa p.E251K CAGE1_ENST00000512086.1_Missense_Mutation_p.E251K|CAGE1_ENST00000338150.4_Missense_Mutation_p.E251K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E251K|CAGE1_ENST00000296742.7_Missense_Mutation_p.E115K|CAGE1_ENST00000509324.1_5'UTR NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 251 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) ACTTCCTTTTCATAACTGACT 0.438000 38 157 0 0 0.001706 0 0 ODF3L2 284451 broad.mit.edu 37 19 467742 467742 + Missense_Mutation SNP G G C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:467742G>C ENST00000315489.4 - 3 491 c.256C>G c.(256-258)Ccg>Gcg p.P86A ODF3L2_ENST00000382696.3_Missense_Mutation_p.P50A NM_182577.2 NP_872383.1 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 86 large_intestine(1)|lung(2) 3 ATGGGGCCCGGGCTGGTGTCC 0.647000 12 61 0 0 0.000978 0 0 SYTL4 94121 broad.mit.edu 37 X 99944877 99944877 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:99944877G>A ENST00000372981.1 - 9 1074 c.888C>T c.(886-888)tcC>tcT p.S296S SYTL4_ENST00000276141.6_Silent_p.S296S|SYTL4_ENST00000454200.2_Silent_p.S297S|SYTL4_ENST00000263033.5_Silent_p.S296S|SYTL4_ENST00000455616.1_Silent_p.S296S|SYTL4_ENST00000372989.1_Silent_p.S296S Q96C24 SYTL4_HUMAN synaptotagmin-like 4 296 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGCCTGGGACGGATTTGCTTC 0.423000 20 12 0 0 0.002299 0 0 CD36 948 broad.mit.edu 37 7 80293749 80293749 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:80293749A>G ENST00000435819.1 + 10 1321 c.637A>G c.(637-639)Aaa>Gaa p.K213E CD36_ENST00000534394.1_Missense_Mutation_p.K137E|CD36_ENST00000309881.7_Missense_Mutation_p.K213E|CD36_ENST00000432207.1_Missense_Mutation_p.K213E|CD36_ENST00000447544.2_Missense_Mutation_p.K213E|CD36_ENST00000544133.1_Missense_Mutation_p.K213E|CD36_ENST00000433696.2_Missense_Mutation_p.K213E|CD36_ENST00000394788.3_Missense_Mutation_p.K213E|CD36_ENST00000538969.1_Missense_Mutation_p.K153E P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 213 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 TGGAGTTTATAAAGTTTTCAA 0.289000 53 113 0 0 0.003610 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208795654 208795654 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:208795654G>T ENST00000457206.1 - 5 2309 c.1882C>A c.(1882-1884)Cgc>Agc p.R628S PLEKHM3_ENST00000427836.2_Missense_Mutation_p.R628S|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.R628S Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 628 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCTTACCTGCGGCGGAGATCC 0.622000 40 30 6.68952e-21 1.40715e-20 0.003214 1 0 CELF1 10658 broad.mit.edu 37 11 47497004 47497004 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:47497004G>A ENST00000395290.2 - 10 1079 c.1070C>T c.(1069-1071)gCc>gTc p.A357V CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000531165.1_Missense_Mutation_p.A386V|CELF1_ENST00000532048.1_Missense_Mutation_p.A384V|CELF1_ENST00000395292.2_Missense_Mutation_p.A355V|CELF1_ENST00000310513.5_Missense_Mutation_p.A354V|CELF1_ENST00000361904.3_Missense_Mutation_p.A355V|CELF1_ENST00000358597.3_Missense_Mutation_p.A358V NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 358 embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 CTGAGTGAGGGCCTCCATGGT 0.537000 17 72 0 0 0.001216 0 0 MAEA 10296 broad.mit.edu 37 4 1305797 1305797 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:1305797C>T ENST00000303400.4 + 2 163 c.100C>T c.(100-102)Cgc>Tgc p.R34C MAEA_ENST00000505177.2_Missense_Mutation_p.R34C|MAEA_ENST00000264750.6_Missense_Mutation_p.R34C|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000452175.2_Missense_Mutation_p.R23C|MAEA_ENST00000514708.1_Missense_Mutation_p.R34C|MAEA_ENST00000510794.1_Missense_Mutation_p.R33C NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 34 Extracellular and involved in cell to cell contact. R -> C (in dbSNP:rs34082974). cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) CAAACGCTTTCGCGCCGCTCA 0.642000 23 46 0 0 0.001061 0 0 FAT2 2196 broad.mit.edu 37 5 150946298 150946298 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:150946298G>T ENST00000261800.5 - 1 2207 c.2195C>A c.(2194-2196)aCc>aAc p.T732N NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 732 Cadherin 6. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCCAAGGGGGTGTTGATAGG 0.478000 17 113 1.56452e-12 3.27209e-12 0.000958 1 0 OR4C15 81309 broad.mit.edu 37 11 55321881 55321881 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:55321881C>T ENST00000314644.2 + 1 99 c.99C>T c.(97-99)ttC>ttT p.F33F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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 AGCAAATTTTCCTTTGTCCTA 0.368000 HNSCC(20;0.049) 14 34 0 0 0.002450 0 0 IGSF10 285313 broad.mit.edu 37 3 151164367 151164367 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:151164367G>A ENST00000282466.3 - 4 3401 c.3402C>T c.(3400-3402)tcC>tcT p.S1134S NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1134 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAGTCACTTGGGAAATTTCAG 0.413000 60 123 0 0 0.003610 0 0 GTPBP4 23560 broad.mit.edu 37 10 1042121 1042121 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:1042121C>T ENST00000360803.4 + 4 481 c.399C>T c.(397-399)gcC>gcT p.A133A GTPBP4_ENST00000545048.1_Silent_p.A86A|GTPBP4_ENST00000538293.1_Silent_p.A17A|GTPBP4_ENST00000491635.1_3'UTR NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 133 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) AGCGTGCGGCCCTGGGACGGA 0.478000 4 18 0 0 0.000248 0 0 PNPLA8 50640 broad.mit.edu 37 7 108154646 108154646 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:108154646A>T ENST00000426128.2 - 3 1273 c.1148T>A c.(1147-1149)gTt>gAt p.V383D PNPLA8_ENST00000257694.8_Missense_Mutation_p.V383D|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V383D|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V283D|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000388728.5_Missense_Mutation_p.V383D|PNPLA8_ENST00000422087.1_Missense_Mutation_p.V383D NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 383 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 CAGTTCTTCAACCCTAGTAAT 0.378000 138 233 0 0 0.003610 0 0 OR52E6 390078 broad.mit.edu 37 11 5862870 5862870 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:5862870G>A ENST00000329322.5 - 1 257 c.258C>T c.(256-258)atC>atT p.I86I OR52E6_ENST00000379946.2_Silent_p.I90I|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAACCAGAAGATGCCCAGCA 0.473000 21 21 0 0 0.001523 0 0 DLX1 1745 broad.mit.edu 37 2 172952900 172952900 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:172952900G>A ENST00000361725.4 + 3 1135 c.683G>A c.(682-684)gGa>gAa p.G228E DLX1_ENST00000341900.6_3'UTR|DLX1_ENST00000550686.1_3'UTR NM_178120.4 NP_835221.2 P56177 DLX1_HUMAN distal-less homeobox 1 228 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|lung(4)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.216) GGCTCAGGAGGAAACGCGGGC 0.627000 27 58 0 0 0.004656 0 0 DNAH5 1767 broad.mit.edu 37 5 13788874 13788874 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:13788874T>C ENST00000265104.4 - 51 8702 c.8598A>G c.(8596-8598)ggA>ggG p.G2866G NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2866 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATGTGTCAATTCCACAATCCA 0.413000 Kartagener syndrome 12 52 0 0 0.002450 0 0 EGF 1950 broad.mit.edu 37 4 110866389 110866389 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:110866389C>T ENST00000265171.5 + 5 1343 c.898C>T c.(898-900)Cca>Tca p.P300S EGF_ENST00000509793.1_Missense_Mutation_p.P300S|EGF_ENST00000503392.1_Missense_Mutation_p.P300S NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 300 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AGTAGTGCATCCACTTGCACA 0.478000 17 11 0 0 0.006122 0 0 SVEP1 79987 broad.mit.edu 37 9 113194310 113194310 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:113194310G>A ENST00000401783.2 - 32 5574 c.5238C>T c.(5236-5238)gtC>gtT p.V1746V SVEP1_ENST00000374469.1_Silent_p.V1723V NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1746 EGF-like 7; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CACACTCATCGACATCTAAAA 0.363000 26 23 0 0 0.004656 0 0 MSTN 2660 broad.mit.edu 37 2 190922147 190922147 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:190922147G>A ENST00000260950.4 - 3 1097 c.965C>T c.(964-966)cCt>cTt p.P322L C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 322 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity p.P322L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) ATGAGTATGAGGATATTTTTG 0.393000 9 8 0 0 0.000673 0 0 MPP6 51678 broad.mit.edu 37 7 24703293 24703293 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:24703293G>A ENST00000396475.2 + 7 1035 c.736G>A c.(736-738)Gga>Aga p.G246R MPP6_ENST00000409761.1_Missense_Mutation_p.G134R|MPP6_ENST00000222644.4_Missense_Mutation_p.G246R NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 246 SH3. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 GTTTTCCAAAGGAGAGATTCT 0.343000 23 65 0 0 0.004656 0 0 VRTN 55237 broad.mit.edu 37 14 74824770 74824770 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:74824770C>T ENST00000256362.4 + 2 1525 c.1284C>T c.(1282-1284)ttC>ttT p.F428F NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 428 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 AACGCAGGTTCCCTGGCATCT 0.572000 32 40 0 0 0.003271 0 0 FBXO42 54455 broad.mit.edu 37 1 16632330 16632330 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:16632330G>A ENST00000375592.3 - 3 551 c.335C>T c.(334-336)cCt>cTt p.P112L FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 112 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TGGGGTTCCAGGATAAGGATA 0.473000 5 71 0 0 0.001168 0 0 FRMPD2 143162 broad.mit.edu 37 10 49395278 49395278 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:49395278G>A ENST00000374201.3 - 17 2525 c.2223C>T c.(2221-2223)acC>acT p.T741T FRMPD2_ENST00000305531.3_Silent_p.T716T|FRMPD2_ENST00000407470.4_Silent_p.T709T NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 741 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GAGAGTCCCAGGTCATTGGCT 0.592000 9 18 0 0 0.004482 0 0 PRTG 283659 broad.mit.edu 37 15 55931908 55931908 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:55931908G>A ENST00000389286.4 - 13 2303 c.2256C>T c.(2254-2256)atC>atT p.I752I NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 752 Fibronectin type-III 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGTAGTTAATGATTTGTGCAG 0.483000 38 80 0 0 0.001485 0 0 LRRC18 474354 broad.mit.edu 37 10 50122129 50122129 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:50122129G>A ENST00000374160.3 - 1 148 c.72C>T c.(70-72)atC>atT p.I24I LRRC18_ENST00000298124.3_Silent_p.I24I|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 24 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CATCAAAAGTGATTTTGATGC 0.468000 10 28 0 0 0.000673 0 0 MOS 4342 broad.mit.edu 37 8 57026421 57026421 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:57026421G>A ENST00000311923.1 - 1 120 c.121C>T c.(121-123)Cct>Tct p.P41S NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 41 ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) GGGGCCCGAGGAAGAGTGGCC 0.687000 8 9 0 0 0.003080 0 0 PARP9 83666 broad.mit.edu 37 3 122247434 122247434 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:122247434G>T ENST00000360356.2 - 11 2569 c.2342C>A c.(2341-2343)cCc>cAc p.P781H PARP9_ENST00000477522.2_Missense_Mutation_p.P746H|PARP9_ENST00000492382.1_Missense_Mutation_p.P326H|PARP9_ENST00000471785.1_Missense_Mutation_p.P746H NM_001146102.1|NM_031458.2 NP_001139574.1|NP_113646.2 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 781 PARP catalytic. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CAGTGGTGGGGGAACAATATT 0.458000 30 67 2.09667e-21 4.41232e-21 0.003755 1 0 ESPNP 284729 broad.mit.edu 37 1 17029371 17029371 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:17029371G>A ENST00000492551.1 - 0 994 NR_026567.1 gggtggtgggggtatgggCTT 0.657000 6 2 0 0 0.001168 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948551 82948551 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:82948551G>A ENST00000274341.4 - 3 1043 c.193C>T c.(193-195)Cga>Tga p.R65* HAPLN1_ENST00000514416.1_Nonsense_Mutation_p.R65* NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 65 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GTAGGGTCTCGATAAAATTTA 0.423000 24 27 0 0 0.002780 0 0 DMBX1 127343 broad.mit.edu 37 1 46977781 46977781 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:46977781C>T ENST00000371956.4 + 4 779 c.764C>T c.(763-765)tCc>tTc p.S255F DMBX1_ENST00000360032.3_Missense_Mutation_p.S250F NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 255 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CCCTCCCACTCCTATTCCTCG 0.617000 32 101 0 0 0.004878 0 0 MROH5 389690 broad.mit.edu 37 8 142482967 142482967 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:142482967G>A ENST00000430863.1 - 0 1932 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TAGCCATTGTGGTTCAGGAAT 0.662000 6 15 0 0 0.001984 0 0 MAPK9 5601 broad.mit.edu 37 5 179676046 179676046 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:179676046C>T ENST00000452135.2 - 6 841 c.543G>A c.(541-543)atG>atA p.M181I MAPK9_ENST00000347470.4_Missense_Mutation_p.M181I|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.M181I|MAPK9_ENST00000425491.2_Missense_Mutation_p.M181I|MAPK9_ENST00000393360.3_Missense_Mutation_p.M181I|MAPK9_ENST00000455781.1_Missense_Mutation_p.M181I|MAPK9_ENST00000343111.6_Missense_Mutation_p.M181I|MAPK9_ENST00000397072.3_3'UTR P45984 MK09_HUMAN mitogen-activated protein kinase 9 181 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|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|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGGGGTCATCATGAAGTTAG 0.537000 64 95 0 0 0.003610 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427205 38427205 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:38427205G>A ENST00000322350.5 + 14 2251 c.1905G>A c.(1903-1905)atG>atA p.M635I EGFLAM_ENST00000397202.2_Start_Codon_SNP_p.M1I|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.M401I|EGFLAM_ENST00000354891.3_Missense_Mutation_p.M635I NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 635 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TTTCCTTCATGGAATTTGAGA 0.507000 22 90 0 0 0.002299 0 0 TMEFF2 23671 broad.mit.edu 37 2 192821082 192821082 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:192821082T>A ENST00000392314.1 - 8 1159 c.768A>T c.(766-768)gaA>gaT p.E256D TMEFF2_ENST00000272771.5_Missense_Mutation_p.E256D|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 256 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) CTCTGGCACTTTCTTCTAATT 0.413000 10 35 0 0 0.000673 0 0 TTN 7273 broad.mit.edu 37 2 179579103 179579103 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179579103C>T ENST00000589042.1 - 91 26622 c.26398G>A c.(26398-26400)Gaa>Aaa p.E8800K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8483K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E7556K|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8483 Ig-like 71. 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) TTGGCTGGTTCCACTCTTGAA 0.408000 6 36 0 0 0.001168 0 0 CD93 22918 broad.mit.edu 37 20 23065195 23065195 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:23065195C>T ENST00000246006.4 - 1 1782 c.1635G>A c.(1633-1635)agG>agA p.R545R NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 545 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGCTGGGCTCCCTCCAGACGC 0.642000 28 50 0 0 0.001271 0 0 BOD1L1 259282 broad.mit.edu 37 4 13603231 13603231 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:13603231T>G ENST00000040738.5 - 10 5428 c.5293A>C c.(5293-5295)Aat>Cat p.N1765H NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1765 DNA binding GGTGCATCATTATCTCCCAGG 0.522000 9 423 0 0 0.000443 0 0 ZNF19 7567 broad.mit.edu 37 16 71509172 71509172 + Silent SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:71509172G>T ENST00000288177.5 - 6 1533 c.1278C>A c.(1276-1278)tcC>tcA p.S426S ZNF19_ENST00000565637.1_Silent_p.S384S|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565100.2_Silent_p.S356S|ZNF19_ENST00000564230.1_Silent_p.S426S NM_006961.3 NP_008892.2 P17023 ZNF19_HUMAN zinc finger protein 19 426 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1) 22 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) GACCTAGCTGGGAAGAAGTCC 0.448000 11 41 6.40141e-05 0.000132825 0.000978 1 0 PDS5B 23047 broad.mit.edu 37 13 33332294 33332294 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:33332294G>A ENST00000315596.10 + 27 3312 c.3126G>A c.(3124-3126)aaG>aaA p.K1042K NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1042 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TTATCAGAAAGATGGTAGAAA 0.264000 5 51 0 0 0.001168 0 0 SNHG14 104472715 broad.mit.edu 37 15 25326359 25326359 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:25326359G>A ENST00000546682.1 + 0 59 SNHG14_ENST00000549804.2_RNA NR_003361.1 AGGCTGTTGGGATCCTCCTGG 0.498000 6 16 0 0 0.001168 0 0 ITGA7 3679 broad.mit.edu 37 12 56087064 56087064 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:56087064G>A ENST00000257880.7 - 21 2924 c.2705C>T c.(2704-2706)tCt>tTt p.S902F ITGA7_ENST00000452168.2_Missense_Mutation_p.S765F|ITGA7_ENST00000555728.1_Missense_Mutation_p.S902F|ITGA7_ENST00000347027.6_Missense_Mutation_p.S852F|ITGA7_ENST00000394230.2_Missense_Mutation_p.S862F|ITGA7_ENST00000257879.6_Missense_Mutation_p.S858F|ITGA7_ENST00000553804.1_Missense_Mutation_p.S862F|ITGA7_ENST00000394229.2_Missense_Mutation_p.S858F Q13683 ITA7_HUMAN integrin, alpha 7 902 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GAGGAAGGCAGAGCCCAGGGT 0.507000 17 51 0 0 0.006122 0 0 OR51G2 81282 broad.mit.edu 37 11 4936874 4936874 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:4936874C>T ENST00000322013.3 - 1 48 c.20G>A c.(19-21)gGa>gAa p.G7E MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) GCTGCTGTTTCCCAGGGATCC 0.547000 8 12 0 0 0.000443 0 0 PFKFB4 5210 broad.mit.edu 37 3 48573728 48573728 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:48573728C>T ENST00000232375.3 - 8 913 c.801G>A c.(799-801)cgG>cgA p.R267R PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Silent_p.R233R|PFKFB4_ENST00000536104.1_Silent_p.R256R|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Silent_p.R267R|PFKFB4_ENST00000383734.2_Silent_p.R267R NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 267 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) CCCCGCCAATCCGGCCCTTGA 0.642000 30 60 0 0 0.002096 0 0 PAMR1 25891 broad.mit.edu 37 11 35492219 35492219 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:35492219G>A ENST00000378880.2 - 5 1087 c.642C>T c.(640-642)ctC>ctT p.L214L PAMR1_ENST00000532848.1_Silent_p.L174L|PAMR1_ENST00000278360.3_Silent_p.L214L|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Intron NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 214 CUB. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 AGAGGACGTGGAGTGAGGATC 0.512000 26 44 0 0 0.001271 0 0 SLC2A9 56606 broad.mit.edu 37 4 9892302 9892302 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:9892302G>A ENST00000506583.1 - 11 1277 c.1060C>T c.(1060-1062)Ctc>Ttc p.L354F SLC2A9_ENST00000309065.3_Missense_Mutation_p.L354F|SLC2A9_ENST00000264784.3_Missense_Mutation_p.L383F Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 383 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CCAATGAGGAGGGGTCTCCGT 0.527000 32 35 0 0 0.002836 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8222664 8222664 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:8222664A>G ENST00000361926.3 + 14 2331 c.2221A>G c.(2221-2223)Acc>Gcc p.T741A ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T741A NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 741 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AGCCTTCCCAACCCCAGGCCC 0.577000 57 32 0 0 0.003610 0 0 MYH1 4619 broad.mit.edu 37 17 10408608 10408608 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:10408608G>A ENST00000226207.5 - 21 2401 c.2307C>T c.(2305-2307)ttC>ttT p.F769F CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 769 Actin-binding (By similarity).|Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GACCAGCTTTGAAAAAGACCT 0.458000 19 29 0 0 0.001216 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655266 46655266 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:46655266A>T ENST00000253255.5 - 1 3953 c.3954T>A c.(3952-3954)aaT>aaA p.N1318K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1318 PLAT. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGCTAAACAGATTTTCCACTT 0.458000 37 97 0 0 0.001287 0 0 OIT3 170392 broad.mit.edu 37 10 74692132 74692132 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:74692132G>A ENST00000334011.5 + 9 1706 c.1488G>A c.(1486-1488)cgG>cgA p.R496R NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 496 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) TGCACTGCCGGGTTCTTGTCT 0.532000 38 94 0 0 0.003610 0 0 NLRP13 126204 broad.mit.edu 37 19 56424543 56424543 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:56424543C>T ENST00000588751.1 - 5 664 c.640G>A c.(640-642)Gaa>Aaa p.E214K NLRP13_ENST00000342929.3_Missense_Mutation_p.E214K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 214 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CGCTGCAGTTCCTCATGTTCG 0.512000 71 99 0 0 0.003610 0 0 DENND2C 163259 broad.mit.edu 37 1 115142866 115142866 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:115142866G>A ENST00000393274.1 - 15 2689 c.2064C>T c.(2062-2064)ctC>ctT p.L688L DENND2C_ENST00000393276.3_Silent_p.L631L|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000481894.1_5'UTR NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 688 DENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCTCCAAAAGGAGAGAGGCAC 0.403000 18 30 0 0 0.004990 0 0 DNAH5 1767 broad.mit.edu 37 5 13811768 13811768 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:13811768C>T ENST00000265104.4 - 44 7499 c.7395G>A c.(7393-7395)ctG>ctA p.L2465L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2465 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCAGAGGAATCAGGCCTTGAA 0.403000 Kartagener syndrome 6 48 0 0 0.001984 0 0 T 6862 broad.mit.edu 37 6 166571865 166571865 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:166571865C>T ENST00000296946.2 - 9 1714 c.1246G>A c.(1246-1248)Gac>Aac p.D416N T_ENST00000366871.3_Missense_Mutation_p.D358N NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 416 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GCTGCGGCGTCGTACTGGCTG 0.637000 Chordoma, Familial Clustering of 56 96 0 0 0.003610 0 0 PC 5091 broad.mit.edu 37 11 66631276 66631276 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:66631276G>A ENST00000393960.1 - 12 1618 c.1337C>T c.(1336-1338)gCc>gTc p.A446V PC_ENST00000355677.3_Missense_Mutation_p.A446V|PC_ENST00000393955.2_Missense_Mutation_p.A446V|PC_ENST00000393958.2_Missense_Mutation_p.A446V|PC_ENST00000524491.1_Missense_Mutation_p.A406V NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 446 Biotin carboxylation. 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) CTCCGCAAGGGCCCTGCTCAT 0.657000 22 83 0 0 0.002780 0 0 CYP2C9 1559 broad.mit.edu 37 10 96741065 96741065 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:96741065C>T ENST00000260682.6 + 7 1099 c.1087C>T c.(1087-1089)Ccc>Tcc p.P363S NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 363 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TGACCTTCTCCCCACCAGCCT 0.502000 3 8 0 0 0.004672 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999365 46999365 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:46999365C>T ENST00000374314.4 + 1 1440 c.485C>T c.(484-486)tCt>tTt p.S162F GPRIN2_ENST00000374317.1_Missense_Mutation_p.S162F O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 162 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GGTGGTACTTCTGGCCAGGGT 0.637000 8 22 0 0 0.003080 0 0 FNDC1 84624 broad.mit.edu 37 6 159682275 159682275 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:159682275C>T ENST00000297267.9 + 19 5428 c.5228C>T c.(5227-5229)cCt>cTt p.P1743L FNDC1_ENST00000340366.6_Missense_Mutation_p.P1680L NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1743 Fibronectin type-III 5. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCTATCAGCCCTTCGGTCTCA 0.348000 46 71 0 0 0.003610 0 0 ACTR3B 57180 broad.mit.edu 37 7 152520574 152520574 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:152520574G>A ENST00000256001.8 + 8 966 c.832G>A c.(832-834)Gga>Aga p.G278R ACTR3B_ENST00000377776.3_Missense_Mutation_p.G278R|ACTR3B_ENST00000537264.1_Missense_Mutation_p.G190R|ACTR3B_ENST00000397282.2_Missense_Mutation_p.G190R NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 278 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) AAGATTCCTGGGACCTGAAAT 0.463000 37 126 0 0 0.002522 0 0 ACO2 50 broad.mit.edu 37 22 41913586 41913586 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:41913586C>T ENST00000396512.3 + 7 983 c.966C>T c.(964-966)ttC>ttT p.F322F ACO2_ENST00000466237.1_3'UTR|ACO2_ENST00000216254.4_Silent_p.F297F Q99798 ACON_HUMAN aconitase 2, mitochondrial 297 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CTTCCGTGTTCCCTTACAACC 0.622000 OREG0026588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 21 0 0 0.002450 0 0 LRRC17 10234 broad.mit.edu 37 7 102584731 102584731 + Missense_Mutation SNP G G C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:102584731G>C ENST00000339431.4 + 4 1298 c.1003G>C c.(1003-1005)Gta>Cta p.V335L FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000436908.1_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR NM_001031692.2 NP_001026862.1 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 335 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 TGACTATGGCGTATTAGAAGA 0.368000 51 101 0 0 0.003610 0 0 NCAN 1463 broad.mit.edu 37 19 19338311 19338311 + Missense_Mutation SNP C C T rs138659174 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:19338311C>T ENST00000252575.5 + 8 1925 c.1882C>T c.(1882-1884)Cca>Tca p.P628S NCAN_ENST00000538881.1_Missense_Mutation_p.P79S NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 628 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GGCCACCTCCCCAGATCTCCC 0.632000 27 29 0 0 0.001271 0 0 ABCA12 26154 broad.mit.edu 37 2 215865485 215865485 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:215865485G>A ENST00000272895.7 - 22 3342 c.3123C>T c.(3121-3123)tcC>tcT p.S1041S ABCA12_ENST00000389661.4_Silent_p.S723S NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1041 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTATTTCCTGGGAGTTCCTTC 0.388000 5 74 0 0 0.000602 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916696 42916696 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:42916696C>T ENST00000316161.4 - 1 937 c.613G>A c.(613-615)Gag>Aag p.E205K CYP8B1_ENST00000437102.1_Missense_Mutation_p.E205K|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 205 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) TTGCGGAACTCCATGAATAAC 0.527000 24 50 0 0 0.003954 0 0 DYM 54808 broad.mit.edu 37 18 46784834 46784834 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:46784834T>C ENST00000269445.6 - 12 1738 c.1281A>G c.(1279-1281)gaA>gaG p.E427E DYM_ENST00000442713.2_Silent_p.E237E NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 427 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 TTAAAACTCGTTCTGAATACC 0.358000 16 14 0 0 0.004990 0 0 PPP5C 5536 broad.mit.edu 37 19 46878977 46878977 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:46878977C>T ENST00000012443.4 + 3 583 c.480C>T c.(478-480)tcC>tcT p.S160S PPP5C_ENST00000391919.1_Silent_p.S54S NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 160 mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) ACAAGCGCTCCGTGGTGGACT 0.587000 8 5 0 0 0.004482 0 0 MKX 283078 broad.mit.edu 37 10 28030293 28030293 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:28030293G>A ENST00000375790.5 - 3 761 c.329C>T c.(328-330)tCg>tTg p.S110L MKX_ENST00000419761.1_Missense_Mutation_p.S110L Q8IYA7 MKX_HUMAN mohawk homeobox 110 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 CGTCATCTGCGAGCCGAGGGC 0.582000 23 47 0 0 0.003954 0 0 EPHX3 79852 broad.mit.edu 37 19 15338587 15338587 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:15338587G>A ENST00000221730.3 - 6 1072 c.852C>T c.(850-852)ctC>ctT p.L284L EPHX3_ENST00000602233.1_Silent_p.L284L|EPHX3_ENST00000435261.1_Silent_p.L284L NM_024794.2 NP_079070.1 Q9H6B9 EPHX3_HUMAN epoxide hydrolase 3 284 extracellular region hydrolase activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CTCACCTGAAGAGGTTTCGGT 0.577000 9 12 0 0 0.000443 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87125949 87125949 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:87125949C>T ENST00000285393.3 + 2 284 c.142C>T c.(142-144)Cat>Tat p.H48Y CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 48 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding p.H48Y(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 CCTGAAAATTCATCTCCAGAC 0.323000 35 106 0 0 0.005524 0 0 GNL2 29889 broad.mit.edu 37 1 38042068 38042068 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:38042068C>T ENST00000373062.3 - 9 1097 c.999G>A c.(997-999)aaG>aaA p.K333K NM_013285.2 NP_037417.1 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 (nucleolar) 333 G. ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 30 Myeloproliferative disorder(586;0.0393) TGCAAACTTTCTTAGAACGCA 0.418000 31 66 0 0 0.001786 0 0 SLC22A8 9376 broad.mit.edu 37 11 62763570 62763570 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:62763570G>A ENST00000336232.2 - 6 951 c.816C>T c.(814-816)gcC>gcT p.A272A SLC22A8_ENST00000535878.1_Silent_p.A149A|SLC22A8_ENST00000545207.1_Silent_p.A181A|SLC22A8_ENST00000311438.8_Silent_p.A272A|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000430500.2_Silent_p.A272A NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 272 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 GTATCTTCAGGGCCTTCGAGG 0.587000 35 37 0 0 0.004878 0 0 RP1L1 94137 broad.mit.edu 37 8 10466429 10466429 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:10466429C>T ENST00000382483.3 - 4 5402 c.5179G>A c.(5179-5181)Gag>Aag p.E1727K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1727 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGCCCTCCCTCAGCTCCCTGG 0.647000 21 73 0 0 0.001523 0 0 TNXB 7148 broad.mit.edu 37 6 32065145 32065145 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:32065145C>T ENST00000375244.3 - 3 686 c.485G>A c.(484-486)tGg>tAg p.W162* TNXB_ENST00000479795.1_Nonsense_Mutation_p.W162*|TNXB_ENST00000375247.2_Nonsense_Mutation_p.W162* P22105 TENX_HUMAN tenascin XB 162 EGF-like 1; incomplete. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGGCCCACCCCAGCCTGGCTC 0.617000 67 252 0 0 0.003610 0 0 POTEE 445582 broad.mit.edu 37 2 131984464 131984464 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:131984464G>A ENST00000356920.5 + 4 973 c.879G>A c.(877-879)aaG>aaA p.K293K POTEE_ENST00000358087.5_Silent_p.K303K|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 293 ATP binding TTTTAATCAAGAAAAAAGCGA 0.343000 16 43 0 0 0.003954 0 0 ROR1 4919 broad.mit.edu 37 1 64605949 64605949 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:64605949G>A ENST00000371079.1 + 6 1143 c.768G>A c.(766-768)gaG>gaA p.E256E ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Silent_p.E256E NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 256 FZ. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 AAATCCTGGAGAATGTCCTGT 0.488000 27 79 0 0 0.001786 0 0 SLC38A1 81539 broad.mit.edu 37 12 46633496 46633496 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:46633496C>T ENST00000398637.5 - 3 782 c.88G>A c.(88-90)Gat>Aat p.D30N SLC38A1_ENST00000549633.1_Intron|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D30N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D30N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D30N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D30N NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 30 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TCGGTGAAATCATTGGAGTCA 0.383000 16 69 0 0 0.000958 0 0 CTAGE15 441294 broad.mit.edu 37 7 143270136 143270136 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:143270136G>A ENST00000420911.2 + 1 1243 c.1226G>A c.(1225-1227)cGa>cAa p.R409Q NM_001008747.1 NP_001008747.1 CTAGE family, member 15 GAAAATTACCGAATAGAGGAA 0.378000 19 74 0 0 0.001523 0 0 IL37 27178 broad.mit.edu 37 2 113676334 113676334 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:113676334C>T ENST00000263326.3 + 5 647 c.605C>T c.(604-606)tCa>tTa p.S202L IL37_ENST00000349806.3_Missense_Mutation_p.S141L|IL37_ENST00000352179.3_Missense_Mutation_p.S181L|IL37_ENST00000353225.3_Missense_Mutation_p.S162L|IL37_ENST00000311328.2_Missense_Mutation_p.S176L NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 202 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 ATTGAATTTTCATTTCAACCA 0.458000 20 20 0 0 0.001882 0 0 SI 6476 broad.mit.edu 37 3 164754210 164754210 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:164754210C>T ENST00000264382.3 - 22 2544 c.2482G>A c.(2482-2484)Gga>Aga p.G828R NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 828 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AAAAAGTCTCCTTTGGCTGTG 0.343000 HNSCC(35;0.089) 7 11 0 0 0.000443 0 0 KRT80 144501 broad.mit.edu 37 12 52566898 52566898 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:52566898C>T ENST00000313234.5 - 6 978 c.881G>A c.(880-882)aGc>aAc p.S294N KRT80_ENST00000394815.2_Missense_Mutation_p.S294N NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 294 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) GCTGCGGCTGCTCTGGAGGCT 0.647000 8 14 0 0 0.004482 0 0 CRISP2 7180 broad.mit.edu 37 6 49676848 49676848 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:49676848C>T ENST00000339139.4 - 4 298 c.62G>A c.(61-63)gGa>gAa p.G21E NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 21 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CCTTACCTTTCCTTCTGCAGG 0.413000 7 34 0 0 0.003080 0 0 GYS1 2997 broad.mit.edu 37 19 49473946 49473946 + Missense_Mutation SNP G G C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:49473946G>C ENST00000323798.3 - 14 1862 c.1666C>G c.(1666-1668)Cgg>Ggg p.R556G GYS1_ENST00000263276.6_Missense_Mutation_p.R492G|GYS1_ENST00000541188.1_Missense_Mutation_p.R476G|GYS1_ENST00000544287.1_Missense_Mutation_p.R189G NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 556 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CTGCGGAACCGCCGGTCAAGA 0.587000 OREG0025611 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 30 0 0 0.001855 0 0 VPS13B 157680 broad.mit.edu 37 8 100865745 100865745 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:100865745C>T ENST00000358544.2 + 56 10314 c.10203C>T c.(10201-10203)gaC>gaT p.D3401D VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.D3376D NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3401 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGTTTGATGACCTCACCCACC 0.507000 22 66 0 0 0.003954 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033001 82033001 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:82033001G>A ENST00000328945.5 - 3 1024 c.897C>T c.(895-897)ttC>ttT p.F299F NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 299 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GACCCAAAATGAAGTGAACCA 0.483000 23 51 0 0 0.001882 0 0 MICAL2 9645 broad.mit.edu 37 11 12278353 12278353 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:12278353C>T ENST00000256194.4 + 24 3265 c.2977C>T c.(2977-2979)Ccc>Tcc p.P993S MICAL2_ENST00000537344.1_Missense_Mutation_p.P803S|MICAL2_ENST00000379612.3_Missense_Mutation_p.P767S|MICAL2_ENST00000342902.5_Missense_Mutation_p.P972S|MICAL2_ENST00000527546.1_Missense_Mutation_p.P803S NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 993 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) AAAGTCATTTCCCCTTAACCT 0.522000 9 33 0 0 0.000443 0 0 NOS1 4842 broad.mit.edu 37 12 117725962 117725962 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:117725962C>T ENST00000344089.3 - 6 1785 c.1100G>A c.(1099-1101)gGa>gAa p.G367E NOS1_ENST00000317775.6_Silent_p.R348R|NOS1_ENST00000338101.4_Silent_p.R348R NM_001204213.1|NM_001204214.1 NP_001191142.1|NP_001191143.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 0 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTTCAGGCCTCCTTGCATGCT 0.448000 17 41 0 0 0.000958 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21549984 21549984 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:21549984C>T ENST00000298694.4 + 14 3084 c.2957C>T c.(2956-2958)tCg>tTg p.S986L ARHGEF40_ENST00000298693.3_Missense_Mutation_p.S986L Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 986 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CGCAGCCCCTCGCCCAGCCTC 0.711000 6 6 0 0 0.003080 0 0 OR2L13 284521 broad.mit.edu 37 1 248263568 248263568 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:248263568G>A ENST00000366478.2 + 3 1228 c.891G>A c.(889-891)ctG>ctA p.L297L OR2L13_ENST00000358120.2_Silent_p.L297L NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) AGGAAGTCCTGGGGGCTATGA 0.473000 25 16 0 0 0.001271 0 0 IGKV3-20 28912 broad.mit.edu 37 2 89442280 89442280 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:89442280G>A ENST00000492167.1 - 0 176 GGCCCTGCAGGAGAGGGTGGC 0.537000 11 67 0 0 0.001368 0 0 FNIP2 57600 broad.mit.edu 37 4 159791505 159791505 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:159791505C>T ENST00000264433.6 + 14 2908 c.2833C>T c.(2833-2835)Cgc>Tgc p.R945C FNIP2_ENST00000379346.3_Missense_Mutation_p.R968C NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 945 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) GAACTTTGGCCGCTCACTTCT 0.488000 31 25 0 0 0.005524 0 0 ACVRL1 94 broad.mit.edu 37 12 52309221 52309221 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:52309221C>T ENST00000550683.1 + 6 1128 c.1027C>T c.(1027-1029)Cgc>Tgc p.R343C ACVRL1_ENST00000388922.4_Missense_Mutation_p.R329C|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R155C NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 329 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CATTGCCCACCGCGACTTCAA 0.657000 16 22 0 0 0.004007 0 0 GRM6 2916 broad.mit.edu 37 5 178413358 178413358 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:178413358G>A ENST00000231188.5 - 8 2075 c.1897C>T c.(1897-1899)Ctc>Ttc p.L633F GRM6_ENST00000517717.1_Missense_Mutation_p.L633F|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 633 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GCGTAGATGAGGAAGATGCCG 0.662000 15 24 0 0 0.003163 0 0 GUCY2F 2986 broad.mit.edu 37 X 108673541 108673541 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:108673541C>T ENST00000218006.2 - 8 2077 c.1786G>A c.(1786-1788)Gaa>Aaa p.E596K NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 596 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.E596K(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CATACCATTTCGAACACATCA 0.383000 136 63 0 0 0.003610 0 0 TSC22D1 8848 broad.mit.edu 37 13 45148310 45148310 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:45148310G>T ENST00000458659.2 - 1 2391 c.1901C>A c.(1900-1902)cCa>cAa p.P634Q TSC22D1_ENST00000501704.2_Intron NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 634 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) AGAAACCATTGGTTGCTGTTG 0.507000 13 119 1.05317e-09 2.19681e-09 0.002450 1 0 FER1L6 654463 broad.mit.edu 37 8 124968246 124968246 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:124968246G>A ENST00000522917.1 + 2 214 c.8G>A c.(7-9)gGg>gAg p.G3E FER1L6_ENST00000399018.1_Missense_Mutation_p.G3E NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 3 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GGGATGTTTGGGCTGAAGGTG 0.443000 9 22 0 0 0.000443 0 0 RNF213 57674 broad.mit.edu 37 17 78247135 78247135 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:78247135C>T ENST00000582970.1 + 3 336 c.193C>T c.(193-195)Ccg>Tcg p.P65S RNF213_ENST00000319921.4_Missense_Mutation_p.P65S|RNF213_ENST00000508628.2_Missense_Mutation_p.P65S|RNF213_ENST00000456466.1_Missense_Mutation_p.P65S NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 65 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GTGCTTGTTCCCGGGCTCAGA 0.602000 19 37 0 0 0.006122 0 0 SYT10 341359 broad.mit.edu 37 12 33532801 33532801 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:33532801C>T ENST00000228567.3 - 6 1762 c.1466G>A c.(1465-1467)cGa>cAa p.R489Q SYT10_ENST00000535526.1_Missense_Mutation_p.R308Q NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 489 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.R489Q(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TATTGGTTTTCGATGATAGGC 0.453000 18 49 0 0 0.001216 0 0 XIRP1 165904 broad.mit.edu 37 3 39227129 39227129 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:39227129G>A ENST00000340369.3 - 2 4036 c.3808C>T c.(3808-3810)Cca>Tca p.P1270S XIRP1_ENST00000421646.1_5'UTR|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1270 Pro-rich. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCTCCAGCTGGAAAGTCAGGT 0.632000 36 45 0 0 0.003271 0 0 CNGA1 1259 broad.mit.edu 37 4 47944130 47944130 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:47944130C>T ENST00000402813.3 - 8 834 c.692G>A c.(691-693)gGa>gAa p.G231E CNGA1_ENST00000420489.2_Missense_Mutation_p.G162E|CNGA1_ENST00000514170.1_Missense_Mutation_p.G162E|CNGA1_ENST00000544810.1_Missense_Mutation_p.G162E|CNGA1_ENST00000358519.4_Missense_Mutation_p.G162E P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 162 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 ATATGTGTTTCCCGAGGGATC 0.338000 21 61 0 0 0.002299 0 0 KCNB2 9312 broad.mit.edu 37 8 73850312 73850312 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:73850312G>A ENST00000523207.1 + 3 3310 c.2722G>A c.(2722-2724)Gaa>Aaa p.E908K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 908 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TCCCACACGTGAAACCAGCAT 0.373000 15 41 0 0 0.006122 0 0 ZNF578 147660 broad.mit.edu 37 19 53014574 53014574 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:53014574C>T ENST00000421239.2 + 6 1184 c.940C>T c.(940-942)Cct>Tct p.P314S CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TGGTGAGAAACCTTACAAGTG 0.413000 38 53 0 0 0.001951 0 0 TSPAN8 7103 broad.mit.edu 37 12 71533496 71533496 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:71533496G>A ENST00000393330.2 - 7 808 c.256C>T c.(256-258)Ctg>Ttg p.L86L TSPAN8_ENST00000546561.1_Silent_p.L86L|TSPAN8_ENST00000247829.3_Silent_p.L86L P19075 TSN8_HUMAN tetraspanin 8 86 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) CTCACCAACAGAAGCATGCAG 0.468000 9 253 0 0 0.004482 0 0 SRCAP 10847 broad.mit.edu 37 16 30733927 30733927 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:30733927C>T ENST00000262518.4 + 23 4135 c.3750C>T c.(3748-3750)ctC>ctT p.L1250L SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1250 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGCACCATCTCATCAGCCAGC 0.632000 52 76 0 0 0.003610 0 0 GRIA2 2891 broad.mit.edu 37 4 158257615 158257615 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:158257615G>A ENST00000296526.7 + 11 1885 c.1560G>A c.(1558-1560)ggG>ggA p.G520G GRIA2_ENST00000507898.1_Silent_p.G473G|GRIA2_ENST00000393815.2_Silent_p.G473G|GRIA2_ENST00000449365.1_Silent_p.G473G|GRIA2_ENST00000264426.9_Silent_p.G520G NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 520 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGAGCCTCGGGATATCTATCA 0.413000 5 7 0 0 0.001168 0 0 POU2F2 5452 broad.mit.edu 37 19 42596305 42596305 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:42596305G>A ENST00000389341.5 - 13 1334 c.1268C>T c.(1267-1269)cCc>cTc p.P423L POU2F2_ENST00000560558.1_Missense_Mutation_p.P384L|POU2F2_ENST00000529952.1_Missense_Mutation_p.P439L|POU2F2_ENST00000560398.1_Missense_Mutation_p.P445L|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000526816.2_Missense_Mutation_p.P439L|POU2F2_ENST00000342301.4_Missense_Mutation_p.P439L|POU2F2_ENST00000533720.1_Missense_Mutation_p.P423L NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 439 Gly-rich. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GGTGGCCGGGGGTGGGGGAGT 0.701000 11 13 0 0 0.001368 0 0 TBX10 347853 broad.mit.edu 37 11 67399824 67399824 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:67399824G>A ENST00000335385.3 - 7 920 c.833C>T c.(832-834)cCc>cTc p.P278L NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 278 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 CAGCACACAGGGACTGAGGCT 0.622000 18 58 0 0 0.001523 0 0 TTN 7273 broad.mit.edu 37 2 179422211 179422211 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179422211C>T ENST00000589042.1 - 329 88002 c.87778G>A c.(87778-87780)Gaa>Aaa p.E29260K TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E27619K|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20195K|TTN_ENST00000359218.5_Missense_Mutation_p.E20320K|TTN_ENST00000342992.6_Missense_Mutation_p.E26692K|TTN_ENST00000342175.6_Missense_Mutation_p.E20387K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27619 Fibronectin type-III 113. 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) GACACTGGTTCATGCCAGCCC 0.448000 18 44 0 0 0.000958 0 0 ASB15 142685 broad.mit.edu 37 7 123264718 123264718 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:123264718G>A ENST00000451558.1 + 10 1068 c.547G>A c.(547-549)Gaa>Aaa p.E183K RP11-390E23.3_ENST00000451016.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.E183K|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.E183K|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.E183K|ASB15_ENST00000275699.3_Missense_Mutation_p.E183K|RP11-390E23.3_ENST00000429396.1_RNA Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 183 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 AGCAATGCATGAAGCAGCCAA 0.498000 OREG0018282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 71 0 0 0.001882 0 0 IFT27 11020 broad.mit.edu 37 22 37159018 37159018 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:37159018C>T ENST00000340630.5 - 6 834 c.389G>A c.(388-390)cGa>cAa p.R130Q IFT27_ENST00000433985.2_Missense_Mutation_p.R131Q|IFT27_ENST00000453009.2_Missense_Mutation_p.R90Q NM_006860.4 NP_006851.1 Q9BW83 IFT27_HUMAN intraflagellar transport 27 homolog (Chlamydomonas) 131 small GTPase mediated signal transduction intraflagellar transport particle B|microtubule-based flagellum GTP binding endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GTCCACTGCTCGTCTGCCGGC 0.552000 18 35 0 0 0.006122 0 0 USP24 23358 broad.mit.edu 37 1 55563389 55563389 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:55563389C>T ENST00000294383.6 - 48 5596 c.5595_splice c.e48-1 p.R1866_splice USP24_ENST00000407756.1_Splice_Site_p.R1706_splice NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1866 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CACTGTTATTCTCTAAAGAAA 0.363000 5 8 0 0 0.000602 0 0 FOXP1 27086 broad.mit.edu 37 3 71247436 71247436 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:71247436G>A ENST00000318789.4 - 6 622 c.97C>T c.(97-99)Cgg>Tgg p.R33W FOXP1_ENST00000493089.1_Missense_Mutation_p.R33W|FOXP1_ENST00000498215.1_Missense_Mutation_p.R33W|FOXP1_ENST00000318779.3_Missense_Mutation_p.R33W|FOXP1_ENST00000484350.1_Missense_Mutation_p.R33W|FOXP1_ENST00000468577.1_Missense_Mutation_p.R33W|FOXP1_ENST00000475937.1_Missense_Mutation_p.R33W NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 33 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CGCCCCTCCCGAAGACCGCCG 0.607000 T PAX5 ALL 56 123 0 0 0.003610 0 0 TFAP2A 7020 broad.mit.edu 37 6 10419659 10419659 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:10419659C>A ENST00000319516.4 - 1 212 c.25G>T c.(25-27)Gac>Tac p.D9Y NM_001042425.1 NP_001035890.1 P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 13 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) ACCTGCCAGTCCCCCATTTTG 0.697000 28 33 2.20262e-25 4.64148e-25 0.002836 1 0 ACPL2 92370 broad.mit.edu 37 3 141011256 141011256 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:141011256C>T ENST00000508812.1 + 5 2532 c.625C>T c.(625-627)Ctt>Ttt p.L209F RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Missense_Mutation_p.L202F|ACPL2_ENST00000393010.2_Missense_Mutation_p.L218F|ACPL2_ENST00000286353.4_Missense_Mutation_p.L218F|ACPL2_ENST00000504264.1_Missense_Mutation_p.L201F|ACPL2_ENST00000502783.1_Missense_Mutation_p.L180F Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 218 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 GCTGGCCTTGCTTTATGGCTT 0.483000 24 47 0 0 0.003954 0 0 CLCA4 22802 broad.mit.edu 37 1 87025615 87025615 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:87025615G>A ENST00000370563.3 + 2 202 c.159_splice c.e2-1 p.D54_splice CLCA4_ENST00000263723.5_5'UTR NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 54 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTAATGACAGGATATGGTGAC 0.348000 61 111 0 0 0.003610 0 0 TRBV3-1 28619 broad.mit.edu 37 7 142008598 142008598 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:142008598C>T ENST00000390387.3 + 0 118 ACAGCTGTTTCCCAGACTCCA 0.453000 17 29 0 0 0.004990 0 0 GPR123 84435 broad.mit.edu 37 10 134898504 134898504 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:134898504C>T ENST00000607359.1 + 8 1566 c.1566C>T c.(1564-1566)cgC>cgT p.R522R Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 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) GTATCCTCCGCCTCTGCATCT 0.542000 27 79 0 0 0.004289 0 0 ANKRD27 84079 broad.mit.edu 37 19 33110260 33110260 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:33110260G>A ENST00000306065.4 - 20 2071 c.1913C>T c.(1912-1914)tCc>tTc p.S638F NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 638 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) GGAGTCCACGGAGCGCTGCGG 0.612000 22 38 0 0 0.003330 0 0 RTN3 10313 broad.mit.edu 37 11 63517625 63517625 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:63517625C>T ENST00000377819.5 + 4 2847 c.2693C>T c.(2692-2694)tCc>tTc p.S898F RTN3_ENST00000341307.2_Missense_Mutation_p.S102F|RTN3_ENST00000354497.4_Missense_Mutation_p.S102F|RTN3_ENST00000356000.3_Missense_Mutation_p.S121F|RTN3_ENST00000339997.4_Missense_Mutation_p.S879F|RTN3_ENST00000537981.1_Missense_Mutation_p.S102F|RTN3_ENST00000540798.1_Missense_Mutation_p.S786F NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 898 Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 ATCTACAAGTCCGTCATCCAA 0.448000 7 25 0 0 0.004482 0 0 C10orf71 118461 broad.mit.edu 37 10 50531678 50531678 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:50531678G>A ENST00000374144.3 + 3 1376 c.1088G>A c.(1087-1089)gGa>gAa p.G363E C10orf71_ENST00000323868.4_Missense_Mutation_p.G363E Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 363 endometrium(1) 1 GCTGTGGAAGGAAAAGCTCCC 0.532000 23 35 0 0 0.003330 0 0 TTN 7273 broad.mit.edu 37 2 179585898 179585898 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179585898A>G ENST00000589042.1 - 79 23072 c.22848T>C c.(22846-22848)gcT>gcC p.A7616A TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.A7299A|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.A6372A|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7299 Ig-like 58. 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) CAACTTTTGAAGCTTCTAATT 0.353000 3 8 0 0 0.004672 0 0 ANKRD18A 253650 broad.mit.edu 37 9 38572032 38572032 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:38572032G>A ENST00000313339.3 - 4 448 c.398C>T c.(397-399)tCc>tTc p.S133F ANKRD18A_ENST00000399703.5_3'UTR Q8IVF6 AN18A_HUMAN ankyrin repeat domain 18A 0 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 16 AAGTAGACGGGAGCAAGTGCT 0.323000 22 33 0 0 0.003330 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175015 140175015 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140175015G>A ENST00000526136.1 + 1 466 c.466G>A c.(466-468)Gga>Aga p.G156R PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G156R|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G156R NM_018905.2 NP_061728.1 p.G156*(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTCTAGAGGGAGCATCTGA 0.438000 37 58 0 0 0.003271 0 0 TAF1L 138474 broad.mit.edu 37 9 32632987 32632987 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:32632987C>A ENST00000242310.4 - 1 2680 c.2591G>T c.(2590-2592)aGg>aTg p.R864M NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 864 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GAGCTTTAGCCTCTTCCGGAT 0.463000 43 108 2.81731e-22 5.9315e-22 0.003610 1 0 RGS16 6004 broad.mit.edu 37 1 182571242 182571242 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:182571242G>A ENST00000367558.5 - 4 394 c.246C>T c.(244-246)ttC>ttT p.F82F NM_002928.3 NP_002919.3 O15492 RGS16_HUMAN regulator of G-protein signaling 16 82 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1) 11 CTGTCTTCAGGAAAGCGTGGA 0.537000 OREG0014036 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 96 68 0 0 0.003610 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794303 15794303 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:15794303G>A ENST00000550308.1 + 7 1028 c.647_splice c.e7-1 p.E216_splice CYP4F12_ENST00000324632.9_Splice_Site_p.E216_splice NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TGCTCTGCAGGAGGCCCAGTG 0.517000 19 54 0 0 0.002780 0 0 BCL9 607 broad.mit.edu 37 1 147092780 147092780 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:147092780C>T ENST00000234739.3 + 8 3559 c.2819C>T c.(2818-2820)cCc>cTc p.P940L NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 940 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CCAAAACCTCCCCTTCAGAGT 0.567000 T """IGH@, IGL@""" B-ALL 28 39 0 0 0.001271 0 0 IGHG2 3501 broad.mit.edu 37 14 106111115 106111115 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:106111115C>T ENST00000390545.2 - 0 12 ACCGATGGGCCCTTGGTGGAG 0.672000 5 45 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179542540 179542540 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179542540C>T ENST00000589042.1 - 146 34323 c.34099G>A c.(34099-34101)Gaa>Aaa p.E11367K TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11050K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10123K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11050 Glu-rich.|Pro-rich. 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) ACTTCCTCTTCCTCAGGTAGA 0.443000 22 25 0 0 0.002299 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789461 6789461 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:6789461G>A ENST00000338569.2 - 1 825 c.728C>T c.(727-729)tCc>tTc p.S243F NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AATCAGGTGGGAAGAGCAGGT 0.498000 9 33 0 0 0.000443 0 0 IFNAR2 3455 broad.mit.edu 37 21 34635543 34635543 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:34635543C>T ENST00000342136.4 + 9 1612 c.1286C>T c.(1285-1287)tCt>tTt p.S429F IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S429F|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 429 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) GACTTAAACTCTGTGTTTTTG 0.507000 56 153 0 0 0.003610 0 0 OR10G7 390265 broad.mit.edu 37 11 123909373 123909373 + Silent SNP G G A rs141545635 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:123909373G>A ENST00000330487.5 - 1 344 c.336C>T c.(334-336)ttC>ttT p.F112F NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTGTGTAGAGGAAACACTCGG 0.567000 20 42 0 0 0.004656 0 0 OR51F1 256892 broad.mit.edu 37 11 4791114 4791114 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:4791114G>A ENST00000380383.1 - 1 54 c.55C>T c.(55-57)Cca>Tca p.P19S MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.P12S A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 12 integral to membrane olfactory receptor activity p.P12fs*5(1) kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AAGAAGGTTGGAAATTTAGAT 0.443000 4 12 0 0 0.000248 0 0 TTC27 55622 broad.mit.edu 37 2 32958980 32958980 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:32958980G>A ENST00000317907.4 + 11 1550 c.1319G>A c.(1318-1320)tGg>tAg p.W440* NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 440 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 CCACCTCACTGGGCCATTCAG 0.343000 12 53 0 0 0.001855 0 0 ADAM15 8751 broad.mit.edu 37 1 155030122 155030122 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:155030122G>A ENST00000356955.2 + 13 1434 c.1333G>A c.(1333-1335)Gat>Aat p.D445N ADAM15_ENST00000368410.2_Missense_Mutation_p.D151N|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.D445N|ADAM15_ENST00000360674.4_Missense_Mutation_p.D445N|ADAM15_ENST00000359280.4_Missense_Mutation_p.D445N|ADAM15_ENST00000449910.2_Missense_Mutation_p.D445N|ADAM15_ENST00000368412.3_Missense_Mutation_p.D445N|ADAM15_ENST00000271836.6_Missense_Mutation_p.D445N|ADAM15_ENST00000368413.1_Missense_Mutation_p.D151N|ADAM15_ENST00000447332.3_Missense_Mutation_p.D429N|ADAM15_ENST00000531455.1_Missense_Mutation_p.D455N NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 445 Disintegrin. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GGACTGCGTCGATCCCTGCTG 0.612000 11 146 0 0 0.000978 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713255 142713255 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:142713255C>T ENST00000369381.2 - 0 1350 ACATCTCTTTCATTTCCTTTA 0.378000 4 11 0 0 0.000602 0 0 EPPK1 83481 broad.mit.edu 37 8 144945385 144945385 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:144945385C>T ENST00000525985.1 - 2 2108 c.2037G>A c.(2035-2037)gcG>gcA p.A679A P58107 EPIPL_HUMAN epiplakin 1 679 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACAGCAGCTTCGCGAACACAT 0.602000 11 19 0 0 0.000978 0 0 RP1L1 94137 broad.mit.edu 37 8 10466652 10466652 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:10466652C>T ENST00000382483.3 - 4 5179 c.4956G>A c.(4954-4956)gaG>gaA p.E1652E NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1652 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ACTCCTCCCCCTCCGCCTCCT 0.667000 10 13 0 0 0.001855 0 0 GTPBP2 54676 broad.mit.edu 37 6 43596721 43596721 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:43596721G>A ENST00000307126.5 - 1 178 c.179C>T c.(178-180)cCc>cTc p.P60L NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 60 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CACCTCGGGGGGCAAATACGG 0.622000 4 21 0 0 0.000602 0 0 KIF4B 285643 broad.mit.edu 37 5 154394675 154394675 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:154394675G>A ENST00000435029.4 + 1 1416 c.1256G>A c.(1255-1257)aGg>aAg p.R419K NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 419 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.R419M(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATGTTGGAGAGGATCATTTTG 0.478000 25 124 0 0 0.001271 0 0 PRKG1 5592 broad.mit.edu 37 10 54011354 54011354 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:54011354C>T ENST00000373980.4 + 10 1518 c.1101C>T c.(1099-1101)ttC>ttT p.F367F PRKG1_ENST00000373975.2_Silent_p.F70F|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Silent_p.F340F|PRKG1_ENST00000401604.2_Silent_p.F352F NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 352 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CGGCTTTCTTCGCCAACCTGA 0.408000 5 22 0 0 0.000602 0 0 CUBN 8029 broad.mit.edu 37 10 17085910 17085910 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:17085910G>A ENST00000377833.4 - 26 3810 c.3745C>T c.(3745-3747)Cgt>Tgt p.R1249C NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1249 CUB 7. 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) CCACTAGAACGAATAAGAGGG 0.428000 9 29 0 0 0.004482 0 0 PI4KA 5297 broad.mit.edu 37 22 21096518 21096518 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:21096518G>A ENST00000255882.6 - 32 3825 c.3739C>T c.(3739-3741)Ccg>Tcg p.P1247S PI4KA_ENST00000572273.1_Missense_Mutation_p.P1189S NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1189 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GGTCCTACCGGCACTTCCACT 0.627000 OREG0026324 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 108 0 0 0.003610 0 0 TBC1D1 23216 broad.mit.edu 37 4 38020051 38020051 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:38020051C>T ENST00000261439.4 + 4 1314 c.959C>T c.(958-960)tCc>tTc p.S320F TBC1D1_ENST00000508802.1_Missense_Mutation_p.S320F NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 320 PID. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 AAGGAGATATCCTTTTGCTCT 0.303000 23 38 0 0 0.002299 0 0 BAHCC1 57597 broad.mit.edu 37 17 79414171 79414171 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:79414171G>A ENST00000307745.7 + 15 3273 c.3273G>A c.(3271-3273)ccG>ccA p.P1091P CCACCGCCCCGGGGGCCCAGC 0.682000 17 25 0 0 0.000958 0 0 TPP1 1200 broad.mit.edu 37 11 6636489 6636489 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:6636489G>A ENST00000533371.1 - 10 1407 c.609C>T c.(607-609)ggC>ggT p.G203G TPP1_ENST00000299427.6_Silent_p.G446G O14773 TPP1_HUMAN tripeptidyl peptidase I 446 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) GGTAGGCACGGCCACTGGCAT 0.547000 19 67 0 0 0.001523 0 0 CUL5 8065 broad.mit.edu 37 11 107920788 107920788 + Nonsense_Mutation SNP C C T rs138143013 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:107920788C>T ENST00000393094.2 + 4 1022 c.406C>T c.(406-408)Cga>Tga p.R136* NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 136 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) CAGTATTGTTCGAAAGGTAAG 0.308000 23 34 0 0 0.003330 0 0 PTGIR 5739 broad.mit.edu 37 19 47124583 47124583 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:47124583C>T ENST00000291294.2 - 3 1248 c.1115G>A c.(1114-1116)gGa>gAa p.G372E PTGIR_ENST00000598865.1_Missense_Mutation_p.G160E|PTGIR_ENST00000594275.1_Missense_Mutation_p.G129E|PTGIR_ENST00000597185.1_Missense_Mutation_p.G101E NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 372 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) GGACGACGTTCCCACGGCGCT 0.647000 23 42 0 0 0.001882 0 0 PKD1L1 168507 broad.mit.edu 37 7 47866967 47866967 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:47866967G>A ENST00000289672.2 - 45 6885 c.6835C>T c.(6835-6837)Cgc>Tgc p.R2279C NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2279 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GCCCGTGTGCGACTCTCTCTC 0.667000 17 32 0 0 0.001523 0 0 GPR152 390212 broad.mit.edu 37 11 67219040 67219040 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:67219040G>A ENST00000312457.2 - 1 1160 c.1156C>T c.(1156-1158)Ccc>Tcc p.P386S NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 386 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) TGGGCTGTGGGATCCGACTGT 0.637000 22 24 0 0 0.002780 0 0 MUC16 94025 broad.mit.edu 37 19 9067634 9067634 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9067634C>T ENST00000397910.4 - 3 20015 c.19812G>A c.(19810-19812)aaG>aaA p.K6604K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6606 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 AATAAGATTCCTTTTCAGAAG 0.423000 36 106 0 0 0.002222 0 0 RHBDF2 79651 broad.mit.edu 37 17 74470605 74470605 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:74470605G>A ENST00000591885.1 - 12 1864 c.1314C>T c.(1312-1314)atC>atT p.I438I RHBDF2_ENST00000389760.4_Silent_p.I438I|RHBDF2_ENST00000313080.4_Silent_p.I467I Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 467 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 CCCCCAGGTGGATCAGGTCAA 0.642000 26 51 0 0 0.001786 0 0 SPTA1 6708 broad.mit.edu 37 1 158631086 158631086 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158631086C>T ENST00000368148.3 - 18 2758 c.2578G>A c.(2578-2580)Gta>Ata p.V860I SPTA1_ENST00000368147.3_Missense_Mutation_p.V860I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 860 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCTTCCTCTACCATTTTGTTT 0.428000 35 44 0 0 0.004289 0 0 RELN 5649 broad.mit.edu 37 7 103301924 103301924 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:103301924G>A ENST00000428762.1 - 12 1499 c.1340C>T c.(1339-1341)tCa>tTa p.S447L RELN_ENST00000424685.2_Missense_Mutation_p.S447L|RELN_ENST00000343529.5_Missense_Mutation_p.S447L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 447 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGATAAGCCTGATTCTATCGT 0.408000 13 31 0 0 0.001855 0 0 PLXNB2 23654 broad.mit.edu 37 22 50724285 50724285 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:50724285G>A ENST00000449103.1 - 11 2172 c.2032C>T c.(2032-2034)Ccc>Tcc p.P678S PLXNB2_ENST00000359337.4_Missense_Mutation_p.P678S|PLXNB2_ENST00000496720.1_5'UTR O15031 PLXB2_HUMAN plexin B2 678 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGGTTCATGGGGATCACCAGG 0.647000 29 33 0 0 0.001786 0 0 DNAH8 1769 broad.mit.edu 37 6 38830154 38830154 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:38830154G>A ENST00000359357.3 + 42 5833 c.5579G>A c.(5578-5580)gGa>gAa p.G1860E DNAH8_ENST00000441566.1_Missense_Mutation_p.G1860E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2077E dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAAGACATGGGAAGGTGTTTG 0.463000 42 68 0 0 0.002852 0 0 KIRREL2 84063 broad.mit.edu 37 19 36350386 36350386 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:36350386C>T ENST00000360202.5 + 5 724 c.526C>T c.(526-528)Ctg>Ttg p.L176L KIRREL2_ENST00000592409.1_Silent_p.L176L|KIRREL2_ENST00000347900.6_Silent_p.L126L|KIRREL2_ENST00000586102.2_Silent_p.L176L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Silent_p.L176L NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 176 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 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) CCTCCAGACCCTGCTGAAGGA 0.537000 16 24 0 0 0.004990 0 0 MYH8 4626 broad.mit.edu 37 17 10319000 10319000 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:10319000G>A ENST00000403437.2 - 6 631 c.537C>T c.(535-537)atC>atT p.I179I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 179 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TCACATACGTGATCAGGATGG 0.343000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 10 11 0 0 0.000978 0 0 LAMA3 3909 broad.mit.edu 37 18 21453120 21453120 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:21453120C>T ENST00000269217.6 + 1 317 c.112C>T c.(112-114)Ctt>Ttt p.L38F LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000313654.9_Intron|LAMA3_ENST00000587184.1_Missense_Mutation_p.L38F NM_000227.3 NP_000218.2 Q16787 LAMA3_HUMAN laminin, alpha 3 0 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGCCATTTCTTCAGCCTCC 0.532000 65 50 0 0 0.003610 0 0 LEPRE1 64175 broad.mit.edu 37 1 43228102 43228102 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:43228102G>A ENST00000236040.4 - 2 550 c.510C>T c.(508-510)ttC>ttT p.F170F LEPRE1_ENST00000296388.5_Silent_p.F170F|LEPRE1_ENST00000397054.3_Silent_p.F170F NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 170 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GATTGCCCACGAAGAAGGTGT 0.463000 63 107 0 0 0.003610 0 0 ZNF528 84436 broad.mit.edu 37 19 52919202 52919202 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:52919202C>T ENST00000360465.3 + 7 1523 c.1097C>T c.(1096-1098)tCc>tTc p.S366F ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCAGTGCGTTCCAGCCTCATA 0.418000 13 51 0 0 0.001855 0 0 SPATC1 375686 broad.mit.edu 37 8 145095815 145095815 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:145095815C>T ENST00000377470.3 + 3 1215 c.1113C>T c.(1111-1113)tcC>tcT p.S371S SPATC1_ENST00000447830.2_Silent_p.S371S NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 371 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGCATAATTCCCCAACCCAGA 0.642000 13 23 0 0 0.002450 0 0 TG 7038 broad.mit.edu 37 8 133885424 133885424 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:133885424C>T ENST00000220616.4 + 5 636 c.596C>T c.(595-597)aCc>aTc p.T199I TG_ENST00000377869.1_Missense_Mutation_p.T199I NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 199 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTTGTCAACACCACAGACATG 0.527000 5 30 0 0 0.000602 0 0 LIPE 3991 broad.mit.edu 37 19 42931147 42931147 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:42931147G>A ENST00000244289.4 - 1 431 c.155C>T c.(154-156)gCt>gTt p.A52V LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 52 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TTGGTTTGAAGCAGGCTTCTG 0.532000 27 89 0 0 0.005443 0 0 DLL1 28514 broad.mit.edu 37 6 170592532 170592532 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:170592532A>G ENST00000366756.3 - 9 2168 c.1835T>C c.(1834-1836)aTc>aCc p.I612T NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 612 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) GGTGTTCTTGATCTGCGTGGC 0.612000 21 88 0 0 0.003330 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516606 140516606 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140516606G>A ENST00000231134.5 + 1 1807 c.1590G>A c.(1588-1590)gtG>gtA p.V530V NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 530 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTTCCGCGTGGGAGCCACAG 0.687000 22 25 0 0 0.002299 0 0 SMAP2 64744 broad.mit.edu 37 1 40881040 40881040 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:40881040C>T ENST00000539317.1 + 7 621 c.428C>T c.(427-429)tCc>tTc p.S143F SMAP2_ENST00000487871.1_3'UTR NM_001198980.1 NP_001185909.1 Q8WU79 SMAP2_HUMAN small ArfGAP2 223 regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) CCTTCTTCTTCCGGTTCCAGA 0.453000 75 199 0 0 0.003610 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30950957 30950957 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:30950957C>T ENST00000402321.1 - 3 1572 c.1255G>A c.(1255-1257)Gat>Aat p.D419N GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D419N|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D419N|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D419N|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D419N|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D419N|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D419N Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 419 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 CGCAGGAAATCGCGAATGAAC 0.682000 13 25 0 0 0.002450 0 0 VPS13A 23230 broad.mit.edu 37 9 79936480 79936480 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:79936480C>T ENST00000360280.3 + 44 5908 c.5648C>T c.(5647-5649)tCc>tTc p.S1883F VPS13A_ENST00000376634.4_Missense_Mutation_p.S1883F|VPS13A_ENST00000357409.5_Missense_Mutation_p.S1883F|VPS13A_ENST00000376636.3_Missense_Mutation_p.S1844F NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1883 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ATTTTAAATTCCCTTGGACTT 0.338000 18 13 0 0 0.006122 0 0 EVPL 2125 broad.mit.edu 37 17 74006039 74006039 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:74006039C>T ENST00000301607.3 - 22 3500 c.3247G>A c.(3247-3249)Gag>Aag p.E1083K EVPL_ENST00000586740.1_Missense_Mutation_p.E1105K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1083 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 AGATTCTTCTCCACCTTGACT 0.602000 7 171 0 0 0.001984 0 0 GH2 2689 broad.mit.edu 37 17 61958757 61958757 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:61958757G>A ENST00000332800.7 - 2 266 c.133C>T c.(133-135)Cgc>Tgc p.R45C GH2_ENST00000449787.2_Missense_Mutation_p.R45C|GH2_ENST00000423893.2_Missense_Mutation_p.R45C|GH2_ENST00000456543.2_Missense_Mutation_p.R45C NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 45 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 TGGTACAGGCGACGGGCGCGG 0.572000 85 183 0 0 0.003610 0 0 ADAM30 11085 broad.mit.edu 37 1 120437582 120437582 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:120437582C>T ENST00000369400.1 - 1 1536 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 460 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TCATTTCCTTCCTGCCTACAC 0.463000 210 375 0 0 0.003610 0 0 OCLN 100506658 broad.mit.edu 37 5 68805231 68805231 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:68805231C>T ENST00000355237.2 + 3 750 c.314C>T c.(313-315)cCt>cTt p.P105L OCLN_ENST00000380766.2_Missense_Mutation_p.P105L|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.P105L NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 105 Gly/Tyr-rich.|MARVEL. cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) GTAGGCTACCCTTATGGAGGA 0.507000 58 51 0 0 0.003610 0 0 FBLN2 2199 broad.mit.edu 37 3 13659764 13659764 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:13659764G>A ENST00000404922.3 + 6 2037 c.1918G>A c.(1918-1920)Gat>Aat p.D640N FBLN2_ENST00000535798.1_Missense_Mutation_p.D666N|FBLN2_ENST00000295760.7_Missense_Mutation_p.D640N|FBLN2_ENST00000492059.1_Missense_Mutation_p.D640N NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 640 EGF-like 1; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) ACTGCAGGACGATGGCCGCAC 0.612000 15 38 0 0 0.003163 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49293287 49293287 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:49293287T>A ENST00000559471.1 - 15 2298 c.2035A>T c.(2035-2037)Aat>Tat p.N679Y SECISBP2L_ENST00000261847.3_Missense_Mutation_p.N634Y|SECISBP2L_ENST00000559122.1_5'UTR NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 679 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 AGAACCTGATTACAATACCTG 0.333000 6 16 0 0 0.001984 0 0 GALNT13 114805 broad.mit.edu 37 2 155102466 155102466 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:155102466G>A ENST00000392825.3 + 7 1395 c.828G>A c.(826-828)agG>agA p.R276R GALNT13_ENST00000409237.1_Silent_p.R276R NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 276 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AAATGGACAGGAGGAAAGGAG 0.373000 3 10 0 0 0.004672 0 0 FCGBP 8857 broad.mit.edu 37 19 40364281 40364281 + Silent SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:40364281T>A ENST00000221347.6 - 31 14368 c.14361A>T c.(14359-14361)gtA>gtT p.V4787V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4787 TIL 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCCCACGGGTACGCAGGTGT 0.657000 17 34 0 0 0.001882 0 0 AMPD1 270 broad.mit.edu 37 1 115218600 115218600 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:115218600G>A ENST00000369538.3 - 10 1547 c.1500C>T c.(1498-1500)ttC>ttT p.F500F AMPD1_ENST00000353928.6_Silent_p.F471F|AMPD1_ENST00000520113.2_Silent_p.F504F NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 471 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) AATGTGGAAGGAAATTCTTGG 0.438000 40 98 0 0 0.003610 0 0 DHRS7C 201140 broad.mit.edu 37 17 9683210 9683210 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:9683210T>C ENST00000330255.4 - 3 425 c.413A>G c.(412-414)aAg>aGg p.K138R DHRS7C_ENST00000571134.1_Missense_Mutation_p.K137R NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 138 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CAGAGAAATCTTATGGGCAGG 0.483000 9 14 0 0 0.000443 0 0 ADAM18 8749 broad.mit.edu 37 8 39495126 39495126 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:39495126C>T ENST00000265707.5 + 9 776 c.731C>T c.(730-732)tCc>tTc p.S244F ADAM18_ENST00000379866.1_Missense_Mutation_p.S220F|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 244 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AACCAGATTTCCACCAGTGGG 0.363000 4 18 0 0 0.001168 0 0 PSD 5662 broad.mit.edu 37 10 104175790 104175790 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:104175790C>T ENST00000020673.5 - 3 1267 c.741G>A c.(739-741)ttG>ttA p.L247L PSD_ENST00000406432.1_Silent_p.L247L NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 247 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TGGGGGGGTCCAAGGAGCCAT 0.612000 5 11 0 0 0.000602 0 0 BAI2 576 broad.mit.edu 37 1 32196529 32196529 + Missense_Mutation SNP G G C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:32196529G>C ENST00000373658.3 - 29 4593 c.4252C>G c.(4252-4254)Ccc>Gcc p.P1418A BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Missense_Mutation_p.P1351A|BAI2_ENST00000398556.3_Missense_Mutation_p.P1333A|BAI2_ENST00000398542.1_Missense_Mutation_p.P1318A|BAI2_ENST00000398538.1_Missense_Mutation_p.P1406A|BAI2_ENST00000373655.2_Missense_Mutation_p.P1418A|BAI2_ENST00000440175.2_Missense_Mutation_p.P1027A|BAI2_ENST00000257070.4_Missense_Mutation_p.P1385A|BAI2_ENST00000527361.1_Missense_Mutation_p.P1385A NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1418 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) ATTCCATAGGGATTCTGGAGA 0.677000 16 52 0 0 0.001216 0 0 PSD 5662 broad.mit.edu 37 10 104176757 104176757 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:104176757G>A ENST00000020673.5 - 2 565 c.39C>T c.(37-39)gaC>gaT p.D13D PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Silent_p.D13D NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 13 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AGATGGCACAGTCGCCTTCCG 0.721000 4 6 0 0 0.000248 0 0 CALML3 810 broad.mit.edu 37 10 5567393 5567393 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:5567393G>A ENST00000315238.1 + 1 470 c.345G>A c.(343-345)gaG>gaA p.E115E RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA NM_005185.2 NP_005176.1 P27482 CALL3_HUMAN calmodulin-like 3 115 EF-hand 3. calcium ion binding endometrium(3)|lung(2) 5 GGCTGGGGGAGAAGCTGAGTG 0.647000 4 18 0 0 0.000602 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981677 92981677 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:92981677C>T ENST00000268164.3 + 4 622 c.385C>T c.(385-387)Cga>Tga p.R129* ST8SIA2_ENST00000539113.1_Nonsense_Mutation_p.R108* NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 129 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CATCTTCGATCGAGACAGCAC 0.468000 69 117 0 0 0.003610 0 0 HAVCR1 26762 broad.mit.edu 37 5 156456634 156456634 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:156456634G>A ENST00000425854.1 - 7 1703 c.1171C>T c.(1171-1173)Cat>Tat p.H391Y HAVCR1_ENST00000339252.3_3'UTR|HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.H391Y|HAVCR1_ENST00000523175.1_3'UTR Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 0 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AATGCCAGATGAAACTGAAAC 0.403000 7 36 0 0 0.001984 0 0 RIN3 79890 broad.mit.edu 37 14 93125560 93125560 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:93125560C>T ENST00000216487.7 + 7 2240 c.2081C>T c.(2080-2082)gCc>gTc p.A694V RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 694 Interaction with RAB5B. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CTGAAGGAAGCCATCAACTCA 0.522000 74 202 0 0 0.003610 0 0 ANK2 287 broad.mit.edu 37 4 114274972 114274972 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:114274972C>T ENST00000357077.4 + 38 5251 c.5198C>T c.(5197-5199)tCa>tTa p.S1733L ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1700L|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1700 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) AAAGGTAGTTCAGAAGAGTCA 0.408000 66 59 0 0 0.003610 0 0 OR1K1 392392 broad.mit.edu 37 9 125562894 125562894 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:125562894G>A ENST00000277309.2 + 1 525 c.493G>A c.(493-495)Gct>Act p.A165T NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 CCTGCTCATGGCTCGCTTGTC 0.602000 26 24 0 0 0.001786 0 0 TFCP2 7024 broad.mit.edu 37 12 51510135 51510135 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:51510135C>T ENST00000307660.4 - 4 1140 c.420G>A c.(418-420)tgG>tgA p.W140* TFCP2_ENST00000549867.1_Nonsense_Mutation_p.W140*|TFCP2_ENST00000548115.1_Nonsense_Mutation_p.W140*|TFCP2_ENST00000257915.5_Nonsense_Mutation_p.W140* NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 140 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 GGTTCCACCTCCAGCCCTCTA 0.438000 4 56 0 0 0.000602 0 0 NCAN 1463 broad.mit.edu 37 19 19349202 19349202 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:19349202G>A ENST00000252575.5 + 11 3434 c.3391G>A c.(3391-3393)Gaa>Aaa p.E1131K NCAN_ENST00000538881.1_Missense_Mutation_p.E582K NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1131 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CTCACCGGAGGAACACAGCTT 0.637000 40 67 0 0 0.003214 0 0 CAPN13 92291 broad.mit.edu 37 2 30966434 30966434 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:30966434C>T ENST00000295055.8 - 13 1436 c.1260G>A c.(1258-1260)gaG>gaA p.E420E CAPN13_ENST00000534090.2_Silent_p.E420E NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 420 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GTGGAAATTTCTCCCGGAACC 0.478000 33 35 0 0 0.002445 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214425 140214425 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140214425C>T ENST00000525929.1 + 1 457 c.457C>T c.(457-459)Cca>Tca p.P153S PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P153S|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018910.2 NP_061733.1 p.P153S(2) NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCGGTTTCCACTAGAGGG 0.557000 30 40 0 0 0.004878 0 0 THRAP3 9967 broad.mit.edu 37 1 36752235 36752235 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:36752235C>T ENST00000354618.5 + 4 628 c.404C>T c.(403-405)cCt>cTt p.P135L THRAP3_ENST00000469141.2_Missense_Mutation_p.P135L NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 135 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGAAGGTCCCCTTCACCAAGG 0.542000 T USP6 aneurysmal bone cysts 92 182 0 0 0.003610 0 0 LTBP1 4052 broad.mit.edu 37 2 33172839 33172839 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:33172839G>A ENST00000404816.2 + 1 801 c.448G>A c.(448-450)Ggc>Agc p.G150S LTBP1_ENST00000354476.3_Missense_Mutation_p.G150S Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 150 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) GACCCAGAGCGGCGGAGGCTC 0.721000 9 7 0 0 0.000673 0 0 ZNF800 168850 broad.mit.edu 37 7 127013565 127013565 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:127013565C>T ENST00000393313.1 - 5 2416 c.1825G>A c.(1825-1827)Gta>Ata p.V609I ZNF800_ENST00000265827.3_Missense_Mutation_p.V609I|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000393312.1_Missense_Mutation_p.V609I Q2TB10 ZN800_HUMAN zinc finger protein 800 609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 GTGACTTTTACTTCAATACCG 0.373000 29 49 0 0 0.001512 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459956 107459956 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:107459956C>T ENST00000409382.3 - 2 1088 c.478G>A c.(478-480)Gag>Aag p.E160K ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E160K|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E160K NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 160 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 AAAGCCCCCTCCCGTGGGCCT 0.647000 27 93 0 0 0.005443 0 0 CCDC146 57639 broad.mit.edu 37 7 76889394 76889394 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:76889394T>C ENST00000285871.4 + 8 954 c.827T>C c.(826-828)gTt>gCt p.V276A CCDC146_ENST00000431197.1_Missense_Mutation_p.V22A|CCDC146_ENST00000415740.2_3'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 276 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) CTAAAGAAAGTTGAAAACAAG 0.368000 65 97 0 0 0.003610 0 0 GSAP 54103 broad.mit.edu 37 7 77010657 77010657 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:77010657G>A ENST00000257626.7 - 8 619 c.541C>T c.(541-543)Cgt>Tgt p.R181C NM_017439.3 NP_059135.2 gamma-secretase activating protein ACATGGATACGAAATTGTTCA 0.294000 13 37 0 0 0.004990 0 0 GRID1 2894 broad.mit.edu 37 10 87487690 87487690 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:87487690G>A ENST00000327946.7 - 10 1540 c.1455C>T c.(1453-1455)taC>taT p.Y485Y GRID1_ENST00000536331.1_Silent_p.Y56Y NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 485 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) CAGGGGCTTGGTAAATCTCAT 0.537000 Multiple Myeloma(13;0.14) 15 58 0 0 0.004990 0 0 PARD3B 117583 broad.mit.edu 37 2 206364732 206364732 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:206364732C>T ENST00000406610.2 + 21 3364 c.3157C>T c.(3157-3159)Cca>Tca p.P1053S PARD3B_ENST00000358768.2_Missense_Mutation_p.P991S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Missense_Mutation_p.P984S|PARD3B_ENST00000349953.3_Missense_Mutation_p.P952S 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 1053 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) AAGAGCAAGGCCATCTGAGTA 0.448000 18 78 0 0 0.001523 0 0 CD177 57126 broad.mit.edu 37 19 43859808 43859808 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:43859808C>T ENST00000378009.4 + 0 421 CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CTGTCACTTTCCTAGACCCAG 0.547000 22 46 0 0 0.004656 0 0 ATP2B3 492 broad.mit.edu 37 X 152821606 152821606 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:152821606G>A ENST00000370186.1 + 12 2442 c.2116G>A c.(2116-2118)Ggc>Agc p.G706S ATP2B3_ENST00000393842.1_Missense_Mutation_p.G706S|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G706S|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G720S|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G720S|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G720S Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 720 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCCAAATGCGGCATCATCCA 0.612000 31 13 0 0 0.001512 0 0 MAP4K1 11184 broad.mit.edu 37 19 39096813 39096813 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:39096813C>T ENST00000591517.1 - 17 1228 c.1200_splice c.e17+1 p.K400_splice MAP4K1_ENST00000589130.1_Splice_Site_p.K396_splice|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Splice_Site_p.K400_splice|MAP4K1_ENST00000423454.2_Splice_Site_p.K62_splice NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 400 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGGCCTTACCTTGGGGGGAA 0.642000 7 16 0 0 0.000443 0 0 SCRN2 90507 broad.mit.edu 37 17 45915240 45915240 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:45915240G>A ENST00000584123.1 - 7 1577 c.1272C>T c.(1270-1272)ttC>ttT p.F424F SCRN2_ENST00000407215.3_3'UTR|SCRN2_ENST00000290216.9_Silent_p.F416F Q96FV2 SCRN2_HUMAN secernin 2 416 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 CCCTCTTCACGAAGGCCTGGA 0.662000 16 9 0 0 0.004990 0 0 UMODL1 89766 broad.mit.edu 37 21 43533714 43533714 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:43533714C>T ENST00000400427.1 + 12 2700 c.2304C>T c.(2302-2304)tcC>tcT p.S768S UMODL1_ENST00000408989.2_Silent_p.S840S|UMODL1_ENST00000408910.2_Silent_p.S712S|UMODL1_ENST00000400424.1_Silent_p.S640S NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 746 Fibronectin type-III 2. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 TCATGGTCTCCAATGTGACCA 0.517000 11 24 0 0 0.001368 0 0 OR6B1 135946 broad.mit.edu 37 7 143701556 143701556 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:143701556C>T ENST00000408922.2 + 1 535 c.467C>T c.(466-468)tCc>tTc p.S156F NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) TTTGGCATCTCCCTGGCGAAG 0.532000 19 28 0 0 0.001216 0 0 CACNB2 783 broad.mit.edu 37 10 18828250 18828250 + Missense_Mutation SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:18828250A>C ENST00000396576.2 + 13 1916 c.1415A>C c.(1414-1416)aAa>aCa p.K472T CACNB2_ENST00000324631.7_Missense_Mutation_p.K527T|CACNB2_ENST00000352115.6_Missense_Mutation_p.K503T|CACNB2_ENST00000377315.4_Missense_Mutation_p.K479T|CACNB2_ENST00000377328.1_Missense_Mutation_p.K277T|CACNB2_ENST00000377319.3_Missense_Mutation_p.K434T|CACNB2_ENST00000377329.4_Missense_Mutation_p.K473T|CACNB2_ENST00000377331.2_Missense_Mutation_p.K475T|CACNB2_ENST00000282343.8_Missense_Mutation_p.K499T|RP11-499P20.2_ENST00000425669.1_RNA NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 527 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCAGTCAAGAAATCCCAGCAC 0.567000 8 31 0 0 0.000673 0 0 OR10T2 128360 broad.mit.edu 37 1 158368827 158368827 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158368827C>T ENST00000334438.1 - 1 429 c.430G>A c.(430-432)Gag>Aag p.E144K NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) GAAATCAACTCCAACCCCAGC 0.473000 43 44 0 0 0.002852 0 0 NPTX1 4884 broad.mit.edu 37 17 78444653 78444653 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:78444653G>A ENST00000306773.4 - 5 1416 c.1259C>T c.(1258-1260)gCc>gTc p.A420V NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 420 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) CCACTTGGTGGCCCCTCCGTA 0.657000 14 33 0 0 0.000958 0 0 CHD6 84181 broad.mit.edu 37 20 40081467 40081467 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:40081467G>A ENST00000373233.3 - 21 3413 c.3236C>T c.(3235-3237)cCc>cTc p.P1079L CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1079 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GGATCTCGTGGGCCTTTCGTC 0.547000 33 76 0 0 0.002836 0 0 LRRC41 10489 broad.mit.edu 37 1 46751383 46751383 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:46751383G>A ENST00000343304.6 - 4 1431 c.1146C>T c.(1144-1146)gcC>gcT p.A382A LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 382 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TAGGCTGTGGGGCTGAGCTAG 0.587000 51 103 0 0 0.003610 0 0 AXL 558 broad.mit.edu 37 19 41758763 41758763 + Missense_Mutation SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:41758763A>C ENST00000301178.4 + 16 2007 c.1817A>C c.(1816-1818)cAg>cCg p.Q606P AXL_ENST00000593513.1_Missense_Mutation_p.Q338P|AXL_ENST00000359092.3_Missense_Mutation_p.Q597P NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 606 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GTCTGTTTCCAGGGTTCTGAA 0.592000 18 72 0 0 0.001523 0 0 ITGBL1 9358 broad.mit.edu 37 13 102359248 102359248 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:102359248G>A ENST00000376180.3 + 9 1494 c.1275G>A c.(1273-1275)ggG>ggA p.G425G ITGBL1_ENST00000376162.3_Silent_p.G332G|ITGBL1_ENST00000545560.2_Silent_p.G284G NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 425 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGTGCTCGGGGAAGGGTGAGT 0.478000 8 85 0 0 0.000443 0 0 BOLA3 388962 broad.mit.edu 37 2 74362661 74362661 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:74362661G>A ENST00000295326.4 - 3 324 c.294C>T c.(292-294)atC>atT p.I98I BOLA3_ENST00000327428.5_3'UTR NM_001035505.1 NP_001030582.1 Q53S33 BOLA3_HUMAN bolA family member 3 0 extracellular region large_intestine(1)|lung(1) 2 AGGGAAGAATGATGTCAGTGA 0.363000 14 38 0 0 0.003163 0 0 THBS2 7058 broad.mit.edu 37 6 169648950 169648950 + Silent SNP G G A rs139930955 by1000genomes TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:169648950G>A ENST00000366787.3 - 4 420 c.171C>T c.(169-171)ttC>ttT p.F57F NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 57 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CAAAGCGCACGAAGCGGTAAG 0.592000 23 32 0 0 0.002299 0 0 PPP2R5E 5529 broad.mit.edu 37 14 63888727 63888727 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:63888727G>A ENST00000337537.3 - 4 1042 c.440C>T c.(439-441)tCg>tTg p.S147L PPP2R5E_ENST00000422769.2_Missense_Mutation_p.S71L|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S147L|PPP2R5E_ENST00000553266.1_5'UTR NM_006246.2 NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 147 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) GTGTGGCCACGATGCCTCAAG 0.373000 10 53 0 0 0.000673 0 0 LCE3C 353144 broad.mit.edu 37 1 152573212 152573212 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:152573212C>T ENST00000333881.3 + 1 75 c.5C>T c.(4-6)tCc>tTc p.S2F NM_178434.2 NP_848521.1 Q5T5A8 LCE3C_HUMAN late cornified envelope 3C 2 keratinization lung(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367) GCAAAGATGTCCTGCCAGCAA 0.502000 8 142 0 0 0.003080 0 0 MACC1 346389 broad.mit.edu 37 7 20199187 20199187 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:20199187G>A ENST00000400331.5 - 5 1105 c.797C>T c.(796-798)tCg>tTg p.S266L MACC1_ENST00000332878.4_Missense_Mutation_p.S266L|MACC1_ENST00000589011.1_Missense_Mutation_p.S266L NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 266 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 CACAGTGCACGAAAGATCATG 0.473000 21 37 0 0 0.002780 0 0 DBX1 120237 broad.mit.edu 37 11 20178180 20178180 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:20178180G>A ENST00000227256.3 - 4 728 c.729C>T c.(727-729)tcC>tcT p.S243S DBX1_ENST00000524983.2_Intron NM_001029865.2 NP_001025036.2 A6NMT0 DBX1_HUMAN developing brain homeobox 1 223 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 GGGCTCCGGGGGACGCACGGG 0.627000 34 36 0 0 0.001287 0 0 PLEC 5339 broad.mit.edu 37 8 144995943 144995943 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:144995943G>A ENST00000322810.4 - 32 8626 c.8457C>T c.(8455-8457)ctC>ctT p.L2819L PLEC_ENST00000357649.2_Silent_p.L2686L|PLEC_ENST00000436759.2_Silent_p.L2709L|PLEC_ENST00000345136.3_Silent_p.L2682L|PLEC_ENST00000356346.3_Silent_p.L2668L|PLEC_ENST00000354958.2_Silent_p.L2660L|PLEC_ENST00000398774.2_Silent_p.L2650L|PLEC_ENST00000354589.3_Silent_p.L2682L|PLEC_ENST00000527096.1_Silent_p.L2705L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2819 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCCGCCGTGCGAGCTCGTCCA 0.667000 15 26 0 0 0.006122 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46942885 46942885 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:46942885G>A ENST00000429979.1 - 4 1205 c.601C>T c.(601-603)Cct>Tct p.P201S KIAA0226L_ENST00000378781.3_Missense_Mutation_p.P201S|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.P66S|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P201S|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P201S|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P134S|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P201S|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.P44S|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.P44S NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 201 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 ACATCAACAGGCAGCACAAAT 0.353000 24 138 0 0 0.003954 0 0 ARMC6 93436 broad.mit.edu 37 19 19165050 19165050 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:19165050G>A ENST00000535612.1 + 6 1375 c.943G>A c.(943-945)Gac>Aac p.D315N ARMC6_ENST00000269932.6_Missense_Mutation_p.D290N|ARMC6_ENST00000392336.3_Missense_Mutation_p.D315N|ARMC6_ENST00000546344.1_Missense_Mutation_p.D222N|ARMC6_ENST00000392335.2_Missense_Mutation_p.D290N NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 315 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) GGAGGTCGTCGACCTCGGGGG 0.627000 OREG0025376 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 48 0 0 0.000443 0 0 STK31 56164 broad.mit.edu 37 7 23871957 23871957 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:23871957G>A ENST00000354639.3 + 24 3427 c.2963G>A c.(2962-2964)aGa>aAa p.R988K STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.R988K|STK31_ENST00000433467.2_Missense_Mutation_p.R988K|STK31_ENST00000355870.3_Missense_Mutation_p.R1011K NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 1011 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GAGAAGACAAGAAATGGTGAA 0.313000 60 118 0 0 0.003610 0 0 OGFOD3 79701 broad.mit.edu 37 17 80369398 80369398 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:80369398G>A ENST00000313056.5 - 3 464 c.313C>T c.(313-315)Ccc>Tcc p.P105S OGFOD3_ENST00000329197.5_Missense_Mutation_p.P105S NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 p.P105S(2) CACTTTCGGGGAGTGCAGCCT 0.622000 15 32 0 0 0.001216 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116061184 116061184 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:116061184C>T ENST00000369271.3 - 13 1771 c.1471G>A c.(1471-1473)Gat>Aat p.D491N AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.D491N|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D544N NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 491 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GGCAGGCCATCGATGTAAGTG 0.612000 16 38 0 0 0.006122 0 0 CLEC4C 170482 broad.mit.edu 37 12 7882210 7882210 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:7882210C>T ENST00000542353.1 - 7 1114 c.624G>A c.(622-624)atG>atA p.M208I CLEC4C_ENST00000540085.1_Missense_Mutation_p.M177I|CLEC4C_ENST00000354629.5_Missense_Mutation_p.M177I|CLEC4C_ENST00000360345.3_Missense_Mutation_p.M208I NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 208 innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) AGATCTTCTTCATCTTGCAAA 0.363000 26 37 0 0 0.004656 0 0 PTPRN2 5799 broad.mit.edu 37 7 157985113 157985113 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:157985113C>T ENST00000389413.3 - 5 558 c.455G>A c.(454-456)cGa>cAa p.R152Q PTPRN2_ENST00000409483.1_Missense_Mutation_p.R114Q|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R135Q|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R152Q|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R175Q NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 152 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R152Q(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CAGGTGGCGTCGGAGGGCGTT 0.652000 40 65 0 0 0.001951 0 0 RP1 6101 broad.mit.edu 37 8 55538703 55538703 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:55538703C>T ENST00000220676.1 + 4 2409 c.2261C>T c.(2260-2262)tCc>tTc p.S754F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 754 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCCACGATTTCCAAGAATTTC 0.299000 16 42 0 0 0.003163 0 0 KRT74 121391 broad.mit.edu 37 12 52966262 52966262 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:52966262C>T ENST00000549343.1 - 2 699 c.661G>A c.(661-663)Gat>Aat p.D221N KRT74_ENST00000305620.2_Missense_Mutation_p.D221N Q7RTS7 K2C74_HUMAN keratin 74 221 Coil 1B.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) TCCACCAGATCCCTCATGCTT 0.582000 9 62 0 0 0.000673 0 0 FASN 2194 broad.mit.edu 37 17 80039892 80039892 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:80039892G>A ENST00000579758.1 - 5 685 c.e5+1 FASN_ENST00000306749.2_Silent_p.G2052G P49327 FAS_HUMAN fatty acid synthase energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CACCTGGGAGGCCTTCGTGCC 0.677000 10 23 0 0 0.000978 0 0 USP31 57478 broad.mit.edu 37 16 23080546 23080546 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:23080546G>A ENST00000219689.7 - 16 2879 c.2880C>T c.(2878-2880)tcC>tcT p.S960S USP31_ENST00000567975.1_Silent_p.S253S NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 960 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CTACGACACTGGAGTTCAATC 0.542000 31 83 0 0 0.002445 0 0 HHATL 57467 broad.mit.edu 37 3 42740221 42740221 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:42740221C>T ENST00000441594.1 - 5 723 c.462G>A c.(460-462)atG>atA p.M154I HHATL_ENST00000310417.5_Missense_Mutation_p.M154I NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 154 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) TTAGGGGGTCCATCTTGAAGG 0.572000 50 104 0 0 0.003610 0 0 ADAM22 53616 broad.mit.edu 37 7 87810903 87810903 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:87810903G>A ENST00000398204.4 + 27 2707 c.2384G>A c.(2383-2385)cGa>cAa p.R795Q ADAM22_ENST00000398201.4_Missense_Mutation_p.R831Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.R795Q|ADAM22_ENST00000265727.7_Missense_Mutation_p.R831Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.R795Q NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 831 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GGGCGACCTCGAAGTAACTCT 0.403000 17 18 0 0 0.006122 0 0 NLRP11 204801 broad.mit.edu 37 19 56297047 56297047 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:56297047G>A ENST00000443188.1 - 12 3756 c.3046C>T c.(3046-3048)Ccc>Tcc p.P1016S NLRP11_ENST00000360133.3_Missense_Mutation_p.P962S|NLRP11_ENST00000589093.1_Missense_Mutation_p.P1016S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P917S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P962S NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 1016 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GACATTCTGGGAAATTTGAAA 0.373000 17 67 0 0 0.004007 0 0 ARSF 416 broad.mit.edu 37 X 3030424 3030424 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:3030424G>A ENST00000381127.1 + 11 1821 c.1600G>A c.(1600-1602)Gtg>Atg p.V534M ARSF_ENST00000359361.2_Missense_Mutation_p.V534M|ARSF_ENST00000537104.1_Missense_Mutation_p.V534M NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 534 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 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) GATTAAAAAGGTGGCCAACGC 0.567000 24 16 0 0 0.003330 0 0 SLC9C2 284525 broad.mit.edu 37 1 173503730 173503730 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:173503730G>A ENST00000367714.3 - 16 2289 c.1867C>T c.(1867-1869)Cct>Tct p.P623S SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 623 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ATTATCATAGGATAAATATAT 0.259000 43 39 0 0 0.002522 0 0 CFAP54 144535 broad.mit.edu 37 12 97052043 97052043 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:97052043T>C ENST00000524981.3 + 5 732 c.732T>C c.(730-732)ctT>ctC p.L244L Q6ZTY8 CL063_HUMAN 218 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AGCGCCAGCTTCTGCTGAGAA 0.403000 31 39 0 0 0.002445 0 0 CD163L1 283316 broad.mit.edu 37 12 7531782 7531782 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:7531782C>T ENST00000313599.3 - 9 2220 c.2163G>A c.(2161-2163)atG>atA p.M721I CD163L1_ENST00000396630.1_Missense_Mutation_p.M721I|CD163L1_ENST00000416109.2_Missense_Mutation_p.M731I|CD163L1_ENST00000544331.1_Intron Q9NR16 C163B_HUMAN CD163 molecule-like 1 721 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CAGCAATGTTCATTCCCCAGC 0.488000 12 62 0 0 0.001855 0 0 VCP 7415 broad.mit.edu 37 9 35065361 35065361 + Missense_Mutation SNP G G A rs121909330 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:35065361G>A ENST00000358901.6 - 5 1358 c.463C>T c.(463-465)Cgt>Tgt p.R155C NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 155 R -> C (in IBMPFD; also in one patient without evidence of Paget disease of the bone).|R -> H (in IBMPFD; strongly reduced affinity for ADP and increased affinity for ATP).|R -> P (in IBMPFD). activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ATCCCACCACGGACAAGAAAA 0.493000 12 31 0 0 0.001855 0 0 LRP1 4035 broad.mit.edu 37 12 57569831 57569831 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:57569831C>T ENST00000243077.3 + 24 4399 c.3933C>T c.(3931-3933)ctC>ctT p.L1311L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1311 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGAGCGCCCTCTACTGGACCG 0.622000 OREG0021937 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 61 0 0 0.000958 0 0 DSP 1832 broad.mit.edu 37 6 7583091 7583091 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:7583091C>T ENST00000379802.3 + 24 5937 c.5596C>T c.(5596-5598)Cag>Tag p.Q1866* DSP_ENST00000418664.2_Nonsense_Mutation_p.Q1267* NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1866 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGACCTGAATCAGTGGAAGAC 0.453000 9 61 0 0 0.004482 0 0 EPPK1 83481 broad.mit.edu 37 8 144942663 144942663 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:144942663T>C ENST00000525985.1 - 2 4830 c.4759A>G c.(4759-4761)Atc>Gtc p.I1587V P58107 EPIPL_HUMAN epiplakin 1 1587 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCTCTGGGATGCTCATCCTC 0.637000 4 13 0 0 0.000248 0 0 NARFL 64428 broad.mit.edu 37 16 789655 789655 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:789655G>A ENST00000251588.2 - 2 166 c.150C>T c.(148-150)ttC>ttT p.F50F NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000301694.5_Silent_p.F50F NM_022493.1 NP_071938.1 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 50 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) GGTTAATTTGGAAGTAGCTCC 0.537000 52 78 0 0 0.003610 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445436 10445436 + Silent SNP G G A rs138229174 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:10445436G>A ENST00000326756.3 - 3 2955 c.2517C>T c.(2515-2517)atC>atT p.I839I NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 839 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 GAGGTGTCTCGATATTTGGGG 0.458000 36 108 0 0 0.003755 0 0 QARS 5859 broad.mit.edu 37 3 49136085 49136085 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:49136085G>A ENST00000306125.6 - 20 2241 c.1904C>T c.(1903-1905)cCt>cTt p.P635L QARS_ENST00000414533.1_Missense_Mutation_p.P624L P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 635 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) CAGGCCCACAGGCTGGCCCCA 0.582000 11 23 0 0 0.001855 0 0 MYOF 26509 broad.mit.edu 37 10 95134595 95134595 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:95134595C>T ENST00000371501.4 - 23 2348 c.2226G>A c.(2224-2226)tcG>tcA p.S742S MYOF_ENST00000371502.4_Silent_p.S742S|MYOF_ENST00000359263.4_Silent_p.S742S|MYOF_ENST00000358334.5_Silent_p.S729S Q9NZM1 MYOF_HUMAN myoferlin 742 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 CTGTGGCTTCCGACCTCATCC 0.483000 12 36 0 0 0.001368 0 0 WFDC6 140870 broad.mit.edu 37 20 44167999 44167999 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:44167999C>T ENST00000600168.1 - 1 135 c.48G>A c.(46-48)ttG>ttA p.L16L WFDC6_ENST00000372670.3_Silent_p.L16L|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) GGATGTCCCCCAAAAGGATGA 0.517000 22 50 0 0 0.002780 0 0 PUS7L 83448 broad.mit.edu 37 12 44148979 44148979 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:44148979G>A ENST00000416848.2 - 2 558 c.70C>T c.(70-72)Cat>Tat p.H24Y PUS7L_ENST00000551923.1_Missense_Mutation_p.H24Y|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.H24Y|PUS7L_ENST00000553166.1_Missense_Mutation_p.H24Y NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 24 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) ATAGTGCCATGAAATCCAACG 0.328000 19 24 0 0 0.006122 0 0 MYO3A 53904 broad.mit.edu 37 10 26434394 26434394 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:26434394G>A ENST00000265944.5 + 22 2602 c.2436G>A c.(2434-2436)ctG>ctA p.L812L MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 812 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AAGGTAACCTGAAATCACAAT 0.313000 11 22 0 0 0.000978 0 0 NOTUM 147111 broad.mit.edu 37 17 79913410 79913410 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:79913410G>A ENST00000409678.3 - 9 1382 c.999C>T c.(997-999)ttC>ttT p.F333F NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 333 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) ACTGCACCACGAACACAGGGC 0.701000 7 26 0 0 0.000673 0 0 POTED 317754 broad.mit.edu 37 21 14983034 14983034 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:14983034G>A ENST00000299443.5 + 1 537 c.485G>A c.(484-486)aGg>aAg p.R162K NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 162 plasma membrane central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 GTCATGCTCAGGGACACTGAC 0.572000 28 15 0 0 0.001951 0 0 ARID1B 57492 broad.mit.edu 37 6 157522414 157522414 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:157522414C>T ENST00000346085.5 + 18 4687 c.4686C>T c.(4684-4686)tcC>tcT p.S1562S ARID1B_ENST00000275248.4_Silent_p.S1544S|ARID1B_ENST00000367148.1_Silent_p.S1602S|ARID1B_ENST00000350026.5_Silent_p.S1549S NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1549 Pro-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TCCAGCGCTCCCTGGAGAACC 0.622000 23 86 0 0 0.002299 0 0 MYPN 84665 broad.mit.edu 37 10 69881563 69881563 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:69881563G>A ENST00000358913.5 + 2 856 c.368G>A c.(367-369)cGa>cAa p.R123Q MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R123Q|MYPN_ENST00000540630.1_Missense_Mutation_p.R123Q NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 123 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GATAACCCTCGAAGTCCCACC 0.433000 7 28 0 0 0.004482 0 0 DDX17 10521 broad.mit.edu 37 22 38889753 38889753 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:38889753C>T ENST00000396821.3 - 10 1448 c.1349G>A c.(1348-1350)gGa>gAa p.G450E DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.G371E NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 371 Helicase C-terminal. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) ACTCTTGTCTCCATGGATACA 0.368000 24 42 0 0 0.003954 0 0 YEATS4 8089 broad.mit.edu 37 12 69764559 69764559 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:69764559C>T ENST00000247843.2 + 5 677 c.407C>T c.(406-408)tCa>tTa p.S136L YEATS4_ENST00000548020.1_Missense_Mutation_p.S82L NM_006530.2 NP_006521.1 O95619 YETS4_HUMAN YEATS domain containing 4 136 histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth NuA4 histone acetyltransferase complex|nuclear matrix DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1) 5 all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) ACAGTGGTTTCAGAGTTCTAT 0.328000 16 24 0 0 0.000958 0 0 CAT 847 broad.mit.edu 37 11 34473725 34473725 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:34473725C>T ENST00000241052.4 + 4 540 c.451C>T c.(451-453)Ccc>Tcc p.P151S NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 151 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) AAATAACACCCCCATTTTCTT 0.408000 19 33 0 0 0.006122 0 0 SPATA16 83893 broad.mit.edu 37 3 172643232 172643232 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:172643232G>A ENST00000351008.3 - 7 1315 c.1132C>T c.(1132-1134)Cct>Tct p.P378S NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 378 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TGTTGGGGAGGAAAAGATGAC 0.373000 16 56 0 0 0.001216 0 0 HELZ 9931 broad.mit.edu 37 17 65116564 65116564 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:65116564T>C ENST00000358691.5 - 27 3961 c.3795A>G c.(3793-3795)caA>caG p.Q1265Q HELZ_ENST00000580168.1_Silent_p.Q1266Q NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GATGCTGATTTTGTGGCTGGC 0.438000 23 61 0 0 0.003954 0 0 SEPT10 151011 broad.mit.edu 37 2 110321941 110321941 + Splice_Site SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:110321941A>T ENST00000356688.4 - 8 1344 c.e8+1 SEPT10_ENST00000334001.6_Splice_Site|SEPT10_ENST00000397714.2_Splice_Site|SEPT10_ENST00000468616.1_Splice_Site|SEPT10_ENST00000415095.1_Splice_Site|SEPT10_ENST00000397712.2_Splice_Site|SEPT10_ENST00000437928.1_Splice_Site|SEPT10_ENST00000545389.1_Splice_Site Q9P0V9 SEP10_HUMAN septin 10 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 ACCCCACCCTACCTGACTGGC 0.488000 18 50 0 0 0.003330 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52002866 52002866 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:52002866G>A ENST00000291707.3 - 3 968 c.913C>T c.(913-915)Ccc>Tcc p.P305S SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P187S NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 305 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GTGATCGTGGGGGGCGTCCCC 0.662000 16 40 0 0 0.006122 0 0 RBMS2 5939 broad.mit.edu 37 12 56965567 56965567 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:56965567C>T ENST00000262031.5 + 5 565 c.470C>T c.(469-471)cCc>cTc p.P157L RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000550726.1_Missense_Mutation_p.P32L|RBMS2_ENST00000552247.2_Missense_Mutation_p.P157L NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 157 RRM 2. RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 ATGCTGAAGCCCTTTGGCCAG 0.512000 20 33 0 0 0.000958 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38647461 38647461 + RNA SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:38647461G>T ENST00000494540.1 + 0 314 NR_003086.1 TCTTGCTGATGGATTTTTTTT 0.423000 7 19 8.12818e-05 0.000168507 0.001984 1 0 DICER1 23405 broad.mit.edu 37 14 95556998 95556998 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:95556998G>A ENST00000526495.1 - 29 5897 c.5606C>T c.(5605-5607)cCg>cTg p.P1869L DICER1_ENST00000556045.1_Missense_Mutation_p.P767L|DICER1_ENST00000393063.1_Missense_Mutation_p.P1869L|DICER1_ENST00000541352.1_Missense_Mutation_p.R1815W|DICER1_ENST00000527414.1_Missense_Mutation_p.P1869L|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000343455.3_Missense_Mutation_p.P1869L Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1869 DRBM. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TCTCTCAGCCGGGCTGTAAAA 0.428000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 59 67 0 0 0.003610 0 0 FUT3 2525 broad.mit.edu 37 19 5844661 5844661 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:5844661G>A ENST00000303225.6 - 3 824 c.190C>T c.(190-192)Ctg>Ttg p.L64L FUT3_ENST00000589620.1_Silent_p.L64L|FUT3_ENST00000589918.1_Silent_p.L64L|FUT3_ENST00000458379.2_Silent_p.L64L NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 64 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 AGCAGGATCAGGAGGGTGGGG 0.647000 20 31 0 0 0.001882 0 0 NPAS4 266743 broad.mit.edu 37 11 66192058 66192058 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:66192058G>A ENST00000311034.2 + 7 1873 c.1697G>A c.(1696-1698)gGa>gAa p.G566E NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 566 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GCCCAGGAGGGATGCAGTTTT 0.597000 52 71 0 0 0.003610 0 0 CDH20 28316 broad.mit.edu 37 18 59221748 59221748 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:59221748C>T ENST00000262717.4 + 12 2624 c.2226C>T c.(2224-2226)ttC>ttT p.F742F CDH20_ENST00000536675.2_Silent_p.F742F|CDH20_ENST00000538374.1_Silent_p.F742F Q9HBT6 CAD20_HUMAN cadherin 20, type 2 742 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CACCGCCCTTCGACTCCCTCC 0.642000 7 6 0 0 0.003080 0 0 INTS8 55656 broad.mit.edu 37 8 95866068 95866068 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:95866068G>A ENST00000523731.1 + 14 1810 c.1677G>A c.(1675-1677)ctG>ctA p.L559L INTS8_ENST00000447247.1_Silent_p.L559L|INTS8_ENST00000520845.1_3'UTR NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 559 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) GTGTTATCCTGGGAATTAAAG 0.338000 197 364 0 0 0.003610 0 0 DSE 29940 broad.mit.edu 37 6 116757777 116757777 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:116757777C>T ENST00000331677.3 + 7 2590 c.2146C>T c.(2146-2148)Cgt>Tgt p.R716C DSE_ENST00000359564.2_Missense_Mutation_p.R716C|DSE_ENST00000537543.1_Missense_Mutation_p.R735C|DSE_ENST00000452085.3_Missense_Mutation_p.R716C Q9UL01 DSE_HUMAN dermatan sulfate epimerase 716 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CATTGCTGATCGTCACAAAAT 0.493000 18 23 0 0 0.000958 0 0 BRINP3 339479 broad.mit.edu 37 1 190067807 190067807 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:190067807G>A ENST00000367462.3 - 8 1873 c.1642C>T c.(1642-1644)Cat>Tat p.H548Y FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.H446Y NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 548 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AAAATCATATGGACCAGACTT 0.468000 83 63 0 0 0.003610 0 0 ADAM32 203102 broad.mit.edu 37 8 39103614 39103614 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:39103614C>T ENST00000379907.4 + 17 1958 c.1831C>T c.(1831-1833)Cgt>Tgt p.R611C ADAM32_ENST00000437682.2_Missense_Mutation_p.R512C|ADAM32_ENST00000519315.1_Missense_Mutation_p.R505C NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 611 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TTGTGTAAATCGTGAATGTGT 0.343000 17 43 0 0 0.000958 0 0 BEST3 144453 broad.mit.edu 37 12 70070981 70070981 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:70070981C>T ENST00000330891.5 - 6 919 c.693G>A c.(691-693)ggG>ggA p.G231G BEST3_ENST00000488961.1_Silent_p.G69G|BEST3_ENST00000553096.1_Silent_p.G125G|BEST3_ENST00000331471.4_Silent_p.G231G|BEST3_ENST00000476098.1_Silent_p.G69G NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 231 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CCAGCGGAATCCCAACCCAGT 0.463000 9 12 0 0 0.000673 0 0 CSMD2 114784 broad.mit.edu 37 1 33999476 33999476 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:33999476T>A ENST00000373381.4 - 63 10087 c.9911A>T c.(9910-9912)aAa>aTa p.K3304I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3160 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGGTAGCCTTTTTGACAACG 0.572000 19 43 0 0 0.001216 0 0 FSIP1 161835 broad.mit.edu 37 15 39910330 39910330 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:39910330C>T ENST00000350221.3 - 11 1514 c.1305G>A c.(1303-1305)gaG>gaA p.E435E NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 435 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) GTGTTACGTCCTCAATGTCTT 0.383000 38 52 0 0 0.004878 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280743 32280743 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:32280743G>A ENST00000360482.2 - 2 321 c.192C>T c.(190-192)gcC>gcT p.A64A SPOCD1_ENST00000373648.2_Silent_p.A64A|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Silent_p.A64A NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 64 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CACCTCGAAGGGCCTCCTTCC 0.677000 8 26 0 0 0.003080 0 0 GPI 2821 broad.mit.edu 37 19 34857254 34857254 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:34857254A>G ENST00000415930.3 + 3 414 c.244A>G c.(244-246)Acc>Gcc p.T82A GPI_ENST00000356487.5_Missense_Mutation_p.T43A|GPI_ENST00000586425.1_Missense_Mutation_p.T43A NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 43 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CTGCAGCTTGACCCTCAACAC 0.552000 24 74 0 0 0.005443 0 0 OR6C4 341418 broad.mit.edu 37 12 55945033 55945033 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:55945033G>A ENST00000394256.2 + 1 51 c.23G>A c.(22-24)gGt>gAt p.G8D RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 ACCATGTTTGGTGAGTTTATT 0.373000 16 24 0 0 0.004990 0 0 NTRK1 4914 broad.mit.edu 37 1 156844394 156844394 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:156844394G>A ENST00000368196.3 + 9 1329 c.1209G>A c.(1207-1209)gaG>gaA p.E403E NTRK1_ENST00000392302.2_Silent_p.E373E|NTRK1_ENST00000358660.3_Silent_p.E403E|NTRK1_ENST00000524377.1_Silent_p.E409E NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 409 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) ACCCGGTGGAGAAGAAGGACG 0.547000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 17 16 0 0 0.001523 0 0 TNFRSF8 943 broad.mit.edu 37 1 12183377 12183377 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:12183377C>T ENST00000263932.2 + 9 1205 c.983C>T c.(982-984)cCc>cTc p.P328L TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P217L NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 328 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) GAGGCGCCACCCCTGGGGACC 0.622000 7 7 0 0 0.001984 0 0 OR6X1 390260 broad.mit.edu 37 11 123624513 123624513 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:123624513G>A ENST00000327930.2 - 1 740 c.714C>T c.(712-714)acC>acT p.T238T NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GCGAGGCACAGGTAGAGAAAG 0.468000 4 19 0 0 0.000248 0 0 TNR 7143 broad.mit.edu 37 1 175332919 175332919 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:175332919C>T ENST00000367674.1 - 13 3340 c.2632G>A c.(2632-2634)Gac>Aac p.D878N TNR_ENST00000263525.2_Missense_Mutation_p.D878N NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 878 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ATCACTGAGTCCTTGGTCACA 0.433000 24 85 0 0 0.005443 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42363337 42363337 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:42363337G>A ENST00000290472.3 - 17 1954 c.1860C>T c.(1858-1860)gaC>gaT p.D620D NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 620 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AGGTGGAGAAGTCTTTGTGGC 0.637000 9 37 0 0 0.000673 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567771 45567771 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:45567771G>A ENST00000256692.5 - 0 914 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TCAAATATAAGGAATTCTTAT 0.328000 9 53 0 0 0.000673 0 0 ABCA12 26154 broad.mit.edu 37 2 215815627 215815627 + Missense_Mutation SNP G G C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:215815627G>C ENST00000272895.7 - 45 7047 c.6828C>G c.(6826-6828)atC>atG p.I2276M ABCA12_ENST00000389661.4_Missense_Mutation_p.I1958M|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2276 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCCCAATGCTGATGTTGTTTA 0.368000 21 35 0 0 0.002299 0 0 KCNIP1 30820 broad.mit.edu 37 5 170148905 170148905 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:170148905G>A ENST00000328939.4 + 4 862 c.325G>A c.(325-327)Gag>Aag p.E109K KCNIP1_ENST00000377360.4_Missense_Mutation_p.E118K|KCNIP1_ENST00000411494.1_Missense_Mutation_p.E120K|KCNIP1_ENST00000390656.4_Missense_Mutation_p.E109K|KCNIP1_ENST00000520740.1_Missense_Mutation_p.E81K|KCNIP1_ENST00000434108.1_Missense_Mutation_p.E134K NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 120 EF-hand 2. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGTGAAGTTCGAGGTACGCTC 0.547000 8 93 0 0 0.004482 0 0 SYNE1 23345 broad.mit.edu 37 6 152763308 152763308 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:152763308C>T ENST00000367255.5 - 31 4511 c.3910G>A c.(3910-3912)Ggg>Agg p.G1304R SYNE1_ENST00000367253.4_Missense_Mutation_p.G1304R|SYNE1_ENST00000367248.3_Missense_Mutation_p.G1294R|SYNE1_ENST00000448038.1_Missense_Mutation_p.G1311R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G1311R|SYNE1_ENST00000413186.2_Missense_Mutation_p.G1304R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G1370R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G1304R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1304 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGCAGCCCCCCTTCTCCCTGC 0.592000 HNSCC(10;0.0054) 33 29 0 0 0.002836 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370509 38370509 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:38370509G>A ENST00000322350.5 + 6 1003 c.657G>A c.(655-657)atG>atA p.M219I EGFLAM_ENST00000354891.3_Missense_Mutation_p.M219I NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 219 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGAGGGCAATGAATTCCCATG 0.562000 5 31 0 0 0.001984 0 0 ROR2 4920 broad.mit.edu 37 9 94487000 94487000 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:94487000G>A ENST00000375708.3 - 9 1974 c.1776C>T c.(1774-1776)ttC>ttT p.F592F ROR2_ENST00000375715.1_Silent_p.F452F|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 592 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.F592F(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CAAGGTGCACGAAGTCGGGGG 0.637000 22 8 0 0 0.001523 0 0 LCT 3938 broad.mit.edu 37 2 136567271 136567271 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:136567271G>A ENST00000264162.2 - 8 2656 c.2646C>T c.(2644-2646)gtC>gtT p.V882V NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 882 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TTTCCCAAACGACTTTAGCCT 0.507000 64 83 0 0 0.003610 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172439 207172439 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:207172439G>A ENST00000374423.3 + 5 3573 c.3187G>A c.(3187-3189)Gaa>Aaa p.E1063K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1063 nucleic acid binding|zinc ion binding p.E1063*(2)|p.E1063K(1) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTTTTTGAAGGAAAAACATGT 0.323000 25 24 0 0 0.001061 0 0 KANK4 163782 broad.mit.edu 37 1 62739945 62739945 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:62739945G>A ENST00000371153.4 - 3 1209 c.831C>T c.(829-831)ttC>ttT p.F277F KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 277 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 AGCCAGGGGTGAACAACACCT 0.542000 7 18 0 0 0.004482 0 0 GTF2H1 2965 broad.mit.edu 37 11 18357471 18357471 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:18357471A>G ENST00000265963.4 + 3 485 c.325A>G c.(325-327)Aaa>Gaa p.K109E GTF2H1_ENST00000453096.2_Missense_Mutation_p.K109E|GTF2H1_ENST00000534641.1_Intron NM_005316.3 NP_005307.1 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 62kDa 109 BSD 1. mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 GAAAGCAAATAAAGAACTGGA 0.408000 Nucleotide excision repair (NER) 7 29 0 0 0.003080 0 0 C8B 732 broad.mit.edu 37 1 57422471 57422471 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:57422471C>T ENST00000543257.1 - 4 772 c.206G>A c.(205-207)cGa>cAa p.R69Q C8B_ENST00000535057.1_Missense_Mutation_p.R59Q|C8B_ENST00000371237.4_Missense_Mutation_p.R121Q NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 121 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 GCCTTCACATCGCACTTGACT 0.483000 103 193 0 0 0.003610 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904392 73904392 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:73904392C>T ENST00000342056.2 + 15 2509 c.2111C>T c.(2110-2112)tCg>tTg p.S704L KCNQ5_ENST00000403813.2_Missense_Mutation_p.S676L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S695L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S575L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S685L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S686L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S685L NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 685 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GCCAACATCTCGAGAGGCCTG 0.488000 53 73 0 0 0.003610 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144060386 144060386 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:144060386A>T ENST00000056217.5 + 2 798 c.624A>T c.(622-624)gaA>gaT p.E208D NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 208 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) GGCAGGGGGAAGAGCTGCCAC 0.547000 60 362 0 0 0.003610 0 0 MYH15 22989 broad.mit.edu 37 3 108212016 108212016 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:108212016G>A ENST00000273353.3 - 9 836 c.780C>T c.(778-780)ttC>ttT p.F260F NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 260 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCATCCTGATGAATTTGCCCT 0.408000 19 34 0 0 0.002299 0 0 OR2L2 26246 broad.mit.edu 37 1 248202403 248202403 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:248202403C>T ENST00000366479.2 + 1 930 c.834C>T c.(832-834)acC>acT p.T278T OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) TTTTCTACACCATCCTCACCC 0.473000 27 50 0 0 0.001271 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123120 12123120 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:12123120G>A ENST00000379388.2 + 4 3424 c.3092G>A c.(3091-3093)aGg>aAg p.R1031K NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1031 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ATAAGAAAAAGGAGGAAAATG 0.498000 44 78 0 0 0.003214 0 0 GPR179 440435 broad.mit.edu 37 17 36484369 36484369 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:36484369C>T ENST00000342292.4 - 11 5103 c.5083G>A c.(5083-5085)Gaa>Aaa p.E1695K GPR179_ENST00000584976.1_5'UTR NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1695 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GTCAAGTTTTCCTCCACATCC 0.552000 32 34 0 0 0.002445 0 0 PLOD1 5351 broad.mit.edu 37 1 12034862 12034862 + Silent SNP C C T rs140741046 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:12034862C>T ENST00000196061.4 + 19 2208 c.2181C>T c.(2179-2181)ccC>ccT p.P727P PLOD1_ENST00000376369.3_Silent_p.P774P NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 727 Fe2OG dioxygenase. epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) TCGTCGATCCCTAATTGGCCA 0.632000 27 19 0 0 0.002445 0 0 TCP11 6954 broad.mit.edu 37 6 35086086 35086086 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:35086086G>A ENST00000311875.5 - 10 1928 c.1511C>T c.(1510-1512)tCc>tTc p.S504F TCP11_ENST00000373974.4_Missense_Mutation_p.S458F|TCP11_ENST00000244645.3_Missense_Mutation_p.S429F|TCP11_ENST00000512012.1_Missense_Mutation_p.S491F|TCP11_ENST00000418521.2_Missense_Mutation_p.S428F|TCP11_ENST00000412155.2_Missense_Mutation_p.S453F|TCP11_ENST00000373979.2_Missense_Mutation_p.S429F|TCP11_ENST00000444780.2_Missense_Mutation_p.S499F Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 491 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 CTGGGCTGGGGAAATGAGGGT 0.512000 31 132 0 0 0.004289 0 0 WDR48 57599 broad.mit.edu 37 3 39133154 39133154 + Silent SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:39133154C>A ENST00000302313.5 + 17 1735 c.1707C>A c.(1705-1707)ctC>ctA p.L569L WDR48_ENST00000418020.1_Silent_p.L11L|WDR48_ENST00000396258.3_Silent_p.L487L|WDR48_ENST00000544962.1_Silent_p.L294L|WDR48_ENST00000466405.1_3'UTR NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 569 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CTTTCTACCTCCAACCTCATG 0.284000 9 46 7.48243e-07 1.55665e-06 0.000443 1 0 RNF183 138065 broad.mit.edu 37 9 116060012 116060012 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:116060012C>T ENST00000478815.1 - 1 2033 c.453G>A c.(451-453)ttG>ttA p.L151L RNF183_ENST00000416588.2_Silent_p.L151L|RNF183_ENST00000297894.5_Silent_p.L151L|RNF183_ENST00000441031.3_Silent_p.L151L Q96D59 RN183_HUMAN ring finger protein 183 151 integral to membrane zinc ion binding lung(1)|prostate(1)|skin(1) 3 AACACTCCCTCAAAGAGTGGT 0.602000 26 20 0 0 0.001512 0 0 TRAV18 28665 broad.mit.edu 37 14 22471635 22471635 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:22471635G>A ENST00000390446.3 + 0 163 AAGGACCAGTGGAGACTCGGT 0.453000 15 65 0 0 0.004990 0 0 FUT1 2523 broad.mit.edu 37 19 49254333 49254333 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:49254333G>A ENST00000310160.3 - 4 1180 c.206C>T c.(205-207)tCc>tTc p.S69F NM_000148.3 NP_000139.1 P19526 FUT1_HUMAN fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 69 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) CTGGGGACAGGAAGAGGAGGC 0.637000 11 26 0 0 0.000673 0 0 CLCN7 1186 broad.mit.edu 37 16 1500599 1500599 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:1500599C>T ENST00000382745.4 - 17 2121 c.1516G>A c.(1516-1518)Ggg>Agg p.G506R CLCN7_ENST00000262318.8_Missense_Mutation_p.G482R|CLCN7_ENST00000448525.1_Missense_Mutation_p.G482R NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 506 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) ACCGTGAGCCCGTAGGTCCAG 0.667000 10 18 0 0 0.000673 0 0 SERPINB1 1992 broad.mit.edu 37 6 2838904 2838904 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:2838904G>A ENST00000380739.5 - 3 387 c.185C>T c.(184-186)aCg>aTg p.T62M SERPINB1_ENST00000537185.1_De_novo_Start_InFrame|SERPINB1_ENST00000476896.1_5'UTR P30740 ILEU_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 1 62 regulation of proteolysis cytoplasm|extracellular space serine-type endopeptidase inhibitor activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2) 13 Ovarian(93;0.0412) OV - Ovarian serous cystadenocarcinoma(45;0.0717) CTCTTCAACCGTGTTGAAATG 0.328000 17 61 0 0 0.001216 0 0 VPS13D 55187 broad.mit.edu 37 1 12374283 12374283 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:12374283G>A ENST00000358136.3 + 30 7177 c.7047G>A c.(7045-7047)caG>caA p.Q2349Q VPS13D_ENST00000356315.4_Silent_p.Q2349Q NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2349 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATGCTGGGCAGAAGACCAGCC 0.458000 31 11 0 0 0.002445 0 0 ETHE1 23474 broad.mit.edu 37 19 44015617 44015617 + Silent SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:44015617A>C ENST00000600651.1 - 4 500 c.477T>G c.(475-477)cgT>cgG p.R159R ETHE1_ENST00000292147.2_Silent_p.R159R O95571 ETHE1_HUMAN ethylmalonic encephalopathy 1 159 mitochondrial matrix|nucleus hydrolase activity|metal ion binding central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 5 Prostate(69;0.0153) GCCCACACCCACGGATCAACA 0.547000 7 52 0 0 0.000443 0 0 ABTB2 25841 broad.mit.edu 37 11 34194758 34194758 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:34194758G>A ENST00000435224.2 - 4 1765 c.1341C>T c.(1339-1341)atC>atT p.I447I ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.I261I NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 261 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CTGCCTGCCGGATGTCGCCGC 0.672000 19 20 0 0 0.001882 0 0 DST 667 broad.mit.edu 37 6 56471298 56471298 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:56471298G>A ENST00000370754.5 - 39 8028 c.8029C>T c.(8029-8031)Cct>Tct p.P2677S DST_ENST00000446842.2_Missense_Mutation_p.P2173S|DST_ENST00000361203.3_Missense_Mutation_p.P2499S|DST_ENST00000370769.4_Missense_Mutation_p.P2499S|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.P2499S|DST_ENST00000244364.6_Intron Q03001 DYST_HUMAN dystonin 2499 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) GAGCCAACAGGATTTAAATGT 0.378000 6 11 0 0 0.001168 0 0 LRP2 4036 broad.mit.edu 37 2 170068590 170068590 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:170068590C>T ENST00000263816.3 - 37 6453 c.6168G>A c.(6166-6168)cgG>cgA p.R2056R NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2056 EGF-like 8. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GAGAGCAGGACCGATTATCAG 0.458000 9 70 0 0 0.000443 0 0 ZPLD1 131368 broad.mit.edu 37 3 102189276 102189276 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:102189276G>A ENST00000306176.1 + 9 1120 c.1020G>A c.(1018-1020)agG>agA p.R340R ZPLD1_ENST00000491959.1_Silent_p.R324R|ZPLD1_ENST00000466937.1_Silent_p.R324R NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 324 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CTGGGAGGAGGACGACTTGGA 0.507000 16 50 0 0 0.006122 0 0 CERCAM 51148 broad.mit.edu 37 9 131186786 131186786 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:131186786C>T ENST00000372842.1 + 6 3569 c.425C>T c.(424-426)tCc>tTc p.S142F CERCAM_ENST00000372838.4_Missense_Mutation_p.S220F Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 220 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 TTCCTTGCATCCCTGCGGGCT 0.622000 29 16 0 0 0.005443 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433294 140433294 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140433294G>A ENST00000306549.3 + 1 2316 c.2239G>A c.(2239-2241)Gga>Aga p.G747R NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 747 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAAGGCAATGGATCCTTATC 0.388000 9 79 0 0 0.000443 0 0 KMT2D 8085 broad.mit.edu 37 12 49434611 49434611 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:49434611G>A ENST00000301067.7 - 31 6941 c.6942C>T c.(6940-6942)acC>acT p.T2314T NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CACCCAGGTGGGTGCCTGAGG 0.612000 9 26 0 0 0.000443 0 0 HHATL 57467 broad.mit.edu 37 3 42740220 42740220 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:42740220C>T ENST00000441594.1 - 5 724 c.463G>A c.(463-465)Gac>Aac p.D155N HHATL_ENST00000310417.5_Missense_Mutation_p.D155N NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 155 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) ATTAGGGGGTCCATCTTGAAG 0.577000 47 105 0 0 0.003610 0 0 FAM131B 9715 broad.mit.edu 37 7 143053712 143053712 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:143053712C>T ENST00000409408.1 - 6 2638 c.930G>A c.(928-930)cgG>cgA p.R310R FAM131B_ENST00000409222.3_Silent_p.R310R|FAM131B_ENST00000409346.1_Silent_p.R310R|FAM131B_ENST00000443739.2_Silent_p.R338R|FAM131B_ENST00000409578.1_Silent_p.R326R Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 310 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) CAGACACCTTCCGGCTGAGAG 0.587000 54 114 0 0 0.003610 0 0 MROH7 374977 broad.mit.edu 37 1 55139713 55139713 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:55139713G>A ENST00000414150.2 + 10 2103 c.1825G>A c.(1825-1827)Ggg>Agg p.G609R MROH7_ENST00000339553.5_Missense_Mutation_p.G609R|MROH7_ENST00000545244.1_Missense_Mutation_p.G177R|MROH7_ENST00000421030.2_Missense_Mutation_p.G609R|MROH7_ENST00000409996.1_Missense_Mutation_p.G177R|MROH7_ENST00000395690.2_Missense_Mutation_p.G609R|MROH7_ENST00000454855.2_Missense_Mutation_p.G127R maestro heat-like repeat family member 7 CCCGGCGCTGGGGCTTCTGCT 0.493000 44 111 0 0 0.003610 0 0 GDF15 9518 broad.mit.edu 37 19 18499399 18499399 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:18499399G>A ENST00000595973.1 + 3 1132 c.581G>A c.(580-582)aGa>aAa p.R194K GDF15_ENST00000252809.3_Missense_Mutation_p.R194K Q99988 GDF15_HUMAN growth differentiation factor 15 194 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 GGGCGCCGCAGAGCGCGTGCG 0.731000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 11 0 0 0.000248 0 0 SAG 6295 broad.mit.edu 37 2 234237135 234237135 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:234237135G>A ENST00000409110.1 + 8 754 c.524G>A c.(523-525)cGa>cAa p.R175Q SAG_ENST00000449594.2_Missense_Mutation_p.R41Q NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 175 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) AGCTCCGTGCGATTACTGATC 0.592000 22 80 0 0 0.005443 0 0 VPS28 51160 broad.mit.edu 37 8 145652322 145652322 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:145652322G>T ENST00000377348.2 - 2 96 c.7C>A c.(7-9)Cat>Aat p.H3N VPS28_ENST00000529182.1_Missense_Mutation_p.H3N|VPS28_ENST00000526734.1_5'UTR|VPS28_ENST00000526054.1_Missense_Mutation_p.H3N|VPS28_ENST00000292510.4_Missense_Mutation_p.H3N NM_183057.1 NP_898880.1 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) 3 cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GGGATCCCATGAAACATCCTC 0.637000 4 11 3.59834e-05 7.47286e-05 0.001168 1 0 TAS2R38 5726 broad.mit.edu 37 7 141673402 141673402 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:141673402A>T ENST00000547270.1 - 1 171 c.88T>A c.(88-90)Ttt>Att p.F30I NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 30 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) TTGGTCAGAAACCCCACTGCA 0.468000 20 44 0 0 0.001216 0 0 EIF2B2 8892 broad.mit.edu 37 14 75469738 75469738 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:75469738C>T ENST00000266126.5 + 1 125 c.45C>T c.(43-45)atC>atT p.I15I NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 15 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) CAGAGAGGATCGAGAGCTTCG 0.627000 11 54 0 0 0.002450 0 0 RBM26 64062 broad.mit.edu 37 13 79908520 79908520 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:79908520G>A ENST00000438737.2 - 20 3219 c.2779C>T c.(2779-2781)Cat>Tat p.H927Y RBM26_ENST00000267229.7_Missense_Mutation_p.H900Y|RBM26_ENST00000438724.1_Missense_Mutation_p.H903Y Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 927 RRM 2. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) ATTACTGCATGAAGTGAGGAA 0.244000 9 49 0 0 0.000978 0 0 NLRP10 338322 broad.mit.edu 37 11 7981857 7981857 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:7981857C>T ENST00000328600.2 - 2 1463 c.1302G>A c.(1300-1302)agG>agA p.R434R NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 434 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AATTATGTTTCCTGAGCTCAG 0.522000 54 73 0 0 0.003610 0 0 DEFA5 1670 broad.mit.edu 37 8 6914111 6914111 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:6914111C>T ENST00000330590.2 - 1 145 c.109G>A c.(109-111)Gaa>Aaa p.E37K NM_021010.1 NP_066290.1 Q01523 DEF5_HUMAN defensin, alpha 5, Paneth cell-specific 37 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space NS(1)|lung(4)|skin(1)|stomach(1) 7 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TGGTTGTCTTCCCCAGACTGC 0.527000 18 56 0 0 0.001216 0 0 PSG2 5670 broad.mit.edu 37 19 43579633 43579633 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:43579633C>T ENST00000406487.1 - 3 680 c.582G>A c.(580-582)caG>caA p.Q194Q NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 194 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TTTCGGACAGCTGAAACCTAT 0.493000 91 157 0 0 0.003610 0 0 JAK3 3718 broad.mit.edu 37 19 17937601 17937601 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:17937601G>A ENST00000458235.1 - 24 3425 c.3326C>T c.(3325-3327)gCc>gTc p.A1109V JAK3_ENST00000527670.1_Missense_Mutation_p.A1109V NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 1109 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AGCAGTGAAGGCATGAGTCTC 0.622000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 32 51 0 0 0.002836 0 0 SNX10 29887 broad.mit.edu 37 7 26404214 26404214 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:26404214C>T ENST00000338523.4 + 4 358 c.171C>T c.(169-171)ttC>ttT p.F57F SNX10_ENST00000409367.1_Silent_p.F17F|SNX10_ENST00000446848.2_Silent_p.F83F|SNX10_ENST00000409838.1_Intron|SNX10_ENST00000396376.1_Silent_p.F57F NM_001199835.1|NM_013322.2 NP_001186764.1|NP_037454.2 Q9Y5X0 SNX10_HUMAN sorting nexin 10 57 PX. cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 6 ATAGAGAATTCGTGTGGCTGA 0.358000 22 29 0 0 0.004656 0 0 ANKH 56172 broad.mit.edu 37 5 14758692 14758692 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:14758692C>T ENST00000284268.6 - 3 659 c.329G>A c.(328-330)gGa>gAa p.G110E NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 110 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AATGTAGTATCCTAAATCACT 0.398000 5 69 0 0 0.001168 0 0 SLC10A6 345274 broad.mit.edu 37 4 87746604 87746604 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:87746604G>A ENST00000273905.6 - 5 1035 c.888C>T c.(886-888)ttC>ttT p.F296F SLC10A6_ENST00000505535.1_5'UTR NM_197965.2 NP_932069.1 Q3KNW5 SOAT_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 6 296 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) CTATCAGCTGGAAGAGTCCAT 0.448000 25 24 0 0 0.003954 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79746313 79746313 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:79746313T>A ENST00000338008.5 + 9 3470 c.3290T>A c.(3289-3291)aTt>aAt p.I1097N ZFYVE16_ENST00000505560.1_Missense_Mutation_p.I1097N|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.I1097N NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1097 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) CAGGCAGAAATTATTATTCTA 0.323000 16 79 0 0 0.001216 0 0 MIR205HG 642587 broad.mit.edu 37 1 209605512 209605512 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:209605512C>T ENST00000384891.1 + 0 35 NR_029622.1 CTTCTCTTGTCCTTCATTCCA 0.532000 14 70 0 0 0.004990 0 0 PIWIL1 9271 broad.mit.edu 37 12 130827153 130827153 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:130827153G>A ENST00000245255.3 + 2 289 c.17G>A c.(16-18)cGa>cAa p.R6Q NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 6 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GGGAGAGCCCGAGCCAGAGCC 0.488000 22 15 0 0 0.003330 0 0 DNAH5 1767 broad.mit.edu 37 5 13901560 13901560 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:13901560C>T ENST00000265104.4 - 14 1957 c.1853G>A c.(1852-1854)cGa>cAa p.R618Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 618 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R618Q(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGGCTGGTTTCGAGCCAGAGG 0.473000 Kartagener syndrome 15 20 0 0 0.003163 0 0 FAF1 11124 broad.mit.edu 37 1 51048346 51048346 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:51048346A>T ENST00000396153.2 - 12 1508 c.1057T>A c.(1057-1059)Ttt>Att p.F353I FAF1_ENST00000545823.1_Missense_Mutation_p.F111I|FAF1_ENST00000371778.4_Missense_Mutation_p.F353I|FAF1_ENST00000472808.1_5'UTR NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 353 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) GAGCCAATAAAAAATACAGGA 0.343000 55 85 0 0 0.003610 0 0 HNF4G 3174 broad.mit.edu 37 8 76465357 76465357 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:76465357G>A ENST00000396423.2 + 5 664 c.540G>A c.(538-540)atG>atA p.M180I HNF4G_ENST00000354370.1_Missense_Mutation_p.M143I NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 143 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GTGAATCTATGAAACAGCAGC 0.368000 5 21 0 0 0.000602 0 0 TRMT1 55621 broad.mit.edu 37 19 13226254 13226254 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:13226254C>T ENST00000592062.1 - 6 1050 c.480G>A c.(478-480)ctG>ctA p.L160L TRMT1_ENST00000357720.4_Silent_p.L160L|TRMT1_ENST00000437766.1_Silent_p.L160L|TRMT1_ENST00000221504.8_Silent_p.L160L Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 160 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CTGAAGCTGCCAGGCCTTCCA 0.582000 8 19 0 0 0.003080 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197605 39197605 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:39197605G>A ENST00000306271.4 - 1 108 c.45C>T c.(43-45)tcC>tcT p.S15S NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 15 PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TCCCACTGGTGGAGCAGCTGG 0.592000 37 32 0 0 0.004878 0 0 C16orf58 64755 broad.mit.edu 37 16 31508266 31508266 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:31508266G>A ENST00000327237.2 - 6 645 c.606C>T c.(604-606)atC>atT p.I202I C16orf58_ENST00000430477.2_Silent_p.I60I|C16orf58_ENST00000567994.1_Silent_p.I157I|C16orf58_ENST00000570164.1_Silent_p.I202I Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 202 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 CAACACTCACGATGCACTGGG 0.617000 9 16 0 0 0.001368 0 0 PSG9 5678 broad.mit.edu 37 19 43773533 43773533 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:43773533C>T ENST00000244293.7 - 1 117 c.51G>A c.(49-51)ggG>ggA p.G17G PSG9_ENST00000291752.5_Silent_p.G17G|PSG9_ENST00000593948.1_Silent_p.G17G|PSG9_ENST00000270077.3_Silent_p.G17G|PSG9_ENST00000443718.3_Silent_p.G17G|PSG9_ENST00000418820.2_Silent_p.G17G|PSG9_ENST00000596730.1_Silent_p.G17G Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 17 female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TGAGCAGGAGCCCCTTCCAGG 0.602000 33 63 0 0 0.002522 0 0 LGR6 59352 broad.mit.edu 37 1 202287604 202287604 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:202287604G>A ENST00000367278.3 + 18 2262 c.2173G>A c.(2173-2175)Ggt>Agt p.G725S LGR6_ENST00000255432.7_Missense_Mutation_p.G673S|LGR6_ENST00000439764.2_Missense_Mutation_p.G586S NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 725 G -> C (in a colorectal cancer sample; somatic mutation). integral to membrane|plasma membrane protein-hormone receptor activity p.G725C(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GCCACCTGAGGGTCAGCCAGC 0.657000 18 11 0 0 0.001523 0 0 IFIT2 3433 broad.mit.edu 37 10 91065834 91065834 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:91065834C>T ENST00000371826.3 + 2 290 c.121C>T c.(121-123)Cgg>Tgg p.R41W LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron NM_001547.4 NP_001538.4 P09913 IFIT2_HUMAN interferon-induced protein with tetratricopeptide repeats 2 41 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 12 Colorectal(252;0.0161) AGTATTTTACCGGACTGAGTT 0.453000 10 33 0 0 0.000673 0 0 OR52K1 390036 broad.mit.edu 37 11 4510953 4510953 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:4510953C>T ENST00000307632.3 + 1 845 c.823C>T c.(823-825)Cac>Tac p.H275Y NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CCCTCGTGTCCACATACTCCT 0.493000 48 56 0 0 0.003610 0 0 MYT1 4661 broad.mit.edu 37 20 62839221 62839221 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:62839221C>T ENST00000536311.1 + 7 1036 c.672C>T c.(670-672)gtC>gtT p.V224V MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.V224V Q01538 MYT1_HUMAN myelin transcription factor 1 224 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CCGAGGAGGTCGTCGAAGTCA 0.622000 12 38 0 0 0.000978 0 0 OTOF 9381 broad.mit.edu 37 2 26696884 26696884 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:26696884G>A ENST00000272371.2 - 27 3509 c.3383C>T c.(3382-3384)cCc>cTc p.P1128L OTOF_ENST00000338581.6_Missense_Mutation_p.P381L|OTOF_ENST00000403946.3_Missense_Mutation_p.P1128L|OTOF_ENST00000402415.3_Missense_Mutation_p.P438L|OTOF_ENST00000339598.3_Missense_Mutation_p.P381L NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1128 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGAGCACGGGCCGGATGCC 0.642000 22 27 0 0 0.004656 0 0 NDN 4692 broad.mit.edu 37 15 23931540 23931540 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:23931540G>A ENST00000331837.4 - 1 910 c.825C>T c.(823-825)atC>atT p.I275I NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 275 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding p.I275I(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGAACTCCATGATTTGCATCT 0.582000 Prader-Willi syndrome 17 44 0 0 0.004990 0 0 RFFL 117584 broad.mit.edu 37 17 33353483 33353483 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:33353483G>A ENST00000315249.7 - 2 312 c.90C>T c.(88-90)tcC>tcT p.S30S RFFL_ENST00000413582.2_Silent_p.S30S|RFFL_ENST00000394597.2_Silent_p.S30S|RFFL_ENST00000378516.2_Silent_p.S30S|RFFL_ENST00000447669.2_Silent_p.S30S|RFFL_ENST00000268850.7_Silent_p.S30S|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Silent_p.S30S|RFFL_ENST00000415395.2_Silent_p.S30S Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 30 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ACCCAGGGTTGGAATAGGCCT 0.582000 18 14 0 0 0.006122 0 0 CACNA1I 8911 broad.mit.edu 37 22 39966960 39966960 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:39966960C>T ENST00000336649.4 + 1 203 c.203C>T c.(202-204)cCc>cTc p.P68L CACNA1I_ENST00000407673.1_Missense_Mutation_p.P68L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P68L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.P68L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.P68L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P68L Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 68 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ACCACCAGCCCCCGGAACTGG 0.642000 36 62 0 0 0.001287 0 0 MON2 23041 broad.mit.edu 37 12 62965244 62965244 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:62965244C>T ENST00000393630.3 + 31 4790 c.4399C>T c.(4399-4401)Ctc>Ttc p.L1467F MON2_ENST00000280379.6_Missense_Mutation_p.L1467F|MON2_ENST00000546600.1_Missense_Mutation_p.L1466F|MON2_ENST00000393632.2_Missense_Mutation_p.L1466F|MON2_ENST00000552738.1_Missense_Mutation_p.L1437F|MON2_ENST00000393629.2_Missense_Mutation_p.L1460F NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 1467 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) AGTATCCTCTCTCCTCAGAGT 0.423000 24 113 0 0 0.003330 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981641 61981641 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:61981641G>A ENST00000370263.4 - 5 1343 c.1122C>T c.(1120-1122)tcC>tcT p.S374S CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 374 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCTTATGCATGGACTCGATGA 0.672000 11 11 0 0 0.001368 0 0 FSHR 2492 broad.mit.edu 37 2 49190880 49190880 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:49190880C>T ENST00000406846.2 - 10 1199 c.1080G>A c.(1078-1080)atG>atA p.M360I FSHR_ENST00000541117.1_Missense_Mutation_p.M96I|FSHR_ENST00000304421.4_Missense_Mutation_p.M334I|FSHR_ENST00000346173.3_Missense_Mutation_p.M298I NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 360 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TGTTGTACCCCATGATATCTT 0.448000 Gonadal Dysgenesis, 46 XX 14 56 0 0 0.002450 0 0 DNAH5 1767 broad.mit.edu 37 5 13719066 13719066 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:13719066G>A ENST00000265104.4 - 72 12528 c.12424C>T c.(12424-12426)Ctc>Ttc p.L4142F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4142 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATCTGAAGGAGTGTAATGGGA 0.468000 Kartagener syndrome 9 68 0 0 0.000443 0 0 NNT 23530 broad.mit.edu 37 5 43650655 43650655 + Silent SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:43650655T>A ENST00000264663.5 + 12 1904 c.1683T>A c.(1681-1683)gcT>gcA p.A561A NNT_ENST00000344920.4_Silent_p.A561A|NNT_ENST00000512996.2_Silent_p.A430A NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 561 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GCCTTGCTGCTCTTGCTGCAT 0.433000 20 26 0 0 0.003330 0 0 SERPINA5 5104 broad.mit.edu 37 14 95056491 95056491 + Missense_Mutation SNP C C G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:95056491C>G ENST00000329597.7 + 4 943 c.733C>G c.(733-735)Ctc>Gtc p.L245V SERPINA5_ENST00000554866.1_Missense_Mutation_p.L245V|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L245V|SERPINA5_ENST00000553780.1_Missense_Mutation_p.L245V NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 245 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GTATCACTACCTCCTGGACCG 0.572000 8 31 0 0 0.003080 0 0 CHL1 10752 broad.mit.edu 37 3 423911 423911 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:423911G>A ENST00000256509.2 + 17 2568 c.1926G>A c.(1924-1926)agG>agA p.R642R CHL1_ENST00000397491.2_Silent_p.R626R|CHL1-AS1_ENST00000417612.1_RNA NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 626 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GACAGAACAGGAGTGTTCGGC 0.408000 14 32 0 0 0.004990 0 0 PCDH9 5101 broad.mit.edu 37 13 66879139 66879139 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:66879139C>T ENST00000544246.1 - 5 4053 c.3362G>A c.(3361-3363)gGa>gAa p.G1121E PCDH9_ENST00000377865.2_Missense_Mutation_p.G1121E|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1087E|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1087E|PCDH9-AS1_ENST00000430861.1_RNA NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1121 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTCAGCTAATCCTCGGGGACC 0.428000 6 0 0 0 0.001168 0 0 EMR1 2015 broad.mit.edu 37 19 6924760 6924760 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:6924760C>T ENST00000312053.4 + 15 1900 c.1863C>T c.(1861-1863)atC>atT p.I621I EMR1_ENST00000381407.5_Silent_p.I480I|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000450315.3_Silent_p.I444I|EMR1_ENST00000381404.4_Silent_p.I569I NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 621 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TCTTGGCCATCGCCACCTTTC 0.522000 19 42 0 0 0.001216 0 0 SLC6A11 6538 broad.mit.edu 37 3 10970918 10970918 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:10970918G>A ENST00000254488.2 + 10 1330 c.1264G>A c.(1264-1266)Gtg>Atg p.V422M NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 422 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GGTGACCGCCGTGGTGGACAT 0.557000 71 136 0 0 0.003610 0 0 RCBTB2 1102 broad.mit.edu 37 13 49085947 49085947 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:49085947G>A ENST00000344532.3 - 9 1165 c.742C>T c.(742-744)Cct>Tct p.P248S RCBTB2_ENST00000544492.1_Silent_p.P21P|RCBTB2_ENST00000544904.1_Missense_Mutation_p.P224S|RCBTB2_ENST00000430805.2_Missense_Mutation_p.P253S NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 248 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) ACTCTGCAAGGGGTTGGCTGG 0.512000 17 24 0 0 0.006122 0 0 RPL14 9045 broad.mit.edu 37 3 40503610 40503610 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:40503610C>T ENST00000396203.2 + 6 667 c.535C>T c.(535-537)Cct>Tct p.P179S RPL14_ENST00000416518.1_3'UTR|RPL14_ENST00000338970.6_Missense_Mutation_p.P179S NM_001034996.2 NP_001030168.1 P50914 RL14_HUMAN ribosomal protein L14 179 4 X 5 AA tandem repeats of Q-K-A-[PAS]-X. endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCAGAAGGTTCCTGCCCAGAA 0.552000 5 15 0 0 0.000602 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60242058 60242058 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:60242058C>T ENST00000269499.5 + 13 3162 c.2744C>T c.(2743-2745)tCc>tTc p.S915F ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S594F NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 915 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 CCACCAGCTTCCTACCCCTTA 0.592000 4 48 0 0 0.000602 0 0 MLH3 27030 broad.mit.edu 37 14 75485552 75485552 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:75485552G>A ENST00000355774.2 - 12 4437 c.4222C>T c.(4222-4224)Cac>Tac p.H1408Y MLH3_ENST00000380968.2_Missense_Mutation_p.H346Y|MLH3_ENST00000238662.7_Missense_Mutation_p.H1384Y|MLH3_ENST00000556740.1_Missense_Mutation_p.H1408Y|MLH3_ENST00000556257.1_Missense_Mutation_p.H1230Y NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 1408 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TGTTCCAAGTGGTCTATGTCA 0.453000 Mismatch excision repair (MMR) 26 75 0 0 0.002445 0 0 DPF3 8110 broad.mit.edu 37 14 73190413 73190413 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:73190413A>G ENST00000541685.1 - 5 465 c.453T>C c.(451-453)aaT>aaC p.N151N DPF3_ENST00000546183.1_Silent_p.N161N|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Silent_p.N151N NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 151 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTTCTTCTACATTTTCATCAT 0.388000 58 101 0 0 0.003610 0 0 CAPN9 10753 broad.mit.edu 37 1 230898473 230898473 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:230898473C>T ENST00000354537.1 + 4 559 c.477C>T c.(475-477)ttC>ttT p.F159F CAPN9_ENST00000366666.2_Silent_p.F96F|CAPN9_ENST00000271971.2_Silent_p.F159F|RP11-99J16__A.2_ENST00000412344.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 159 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GCTTGGTTTTCCTCCACTCTG 0.582000 37 34 0 0 0.004878 0 0 PPP4R4 57718 broad.mit.edu 37 14 94712813 94712813 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:94712813C>T ENST00000304338.3 + 14 1702 c.1548C>T c.(1546-1548)gtC>gtT p.V516V NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 516 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TGCCACATGTCATATCAAGCG 0.408000 40 37 0 0 0.001706 0 0 SLC47A2 146802 broad.mit.edu 37 17 19584970 19584970 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:19584970C>T ENST00000350657.5 - 15 1394 c.1220G>A c.(1219-1221)gGa>gAa p.G407E SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Missense_Mutation_p.G429E NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 429 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) TCTCAGAACTCCGCCATAGAC 0.527000 17 12 0 0 0.001523 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420443 56420443 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:56420443C>T ENST00000407595.2 + 2 1610 c.1108C>T c.(1108-1110)Cct>Tct p.P370S RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 370 His-rich. breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGGAGGGAGCCCTGATCACAA 0.637000 6 8 0 0 0.001168 0 0 KMT2B 9757 broad.mit.edu 37 19 36210760 36210760 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:36210760C>T ENST00000420124.1 + 3 511 c.511C>T c.(511-513)Cct>Tct p.P171S WBP7_ENST00000222270.7_Missense_Mutation_p.P171S|WBP7_ENST00000341701.1_Missense_Mutation_p.P171S|KMT2B_ENST00000607650.1_RNA AGATGTGGCTCCTACCCCCCC 0.632000 15 53 0 0 0.002450 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69094496 69094496 + Nonsense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:69094496A>T ENST00000332644.5 - 9 1214 c.1053T>A c.(1051-1053)tgT>tgA p.C351* NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 351 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 TAAATCCAGCACATAACATTG 0.358000 18 17 0 0 0.004990 0 0 PTCHD2 57540 broad.mit.edu 37 1 11579534 11579534 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:11579534C>T ENST00000294484.6 + 8 2150 c.2012C>T c.(2011-2013)cCc>cTc p.P671L PTCHD2_ENST00000389575.3_Missense_Mutation_p.P671L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 671 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) GATGACATCCCCTTGCTGGAG 0.637000 58 72 0 0 0.003610 0 0 CRYGB 1419 broad.mit.edu 37 2 209010568 209010568 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:209010568C>T ENST00000260988.4 - 2 229 c.182G>A c.(181-183)gGg>gAg p.G61E NM_005210.3 NP_005201.2 P07316 CRGB_HUMAN crystallin, gamma B 61 Beta/gamma crystallin 'Greek key' 2. visual perception structural constituent of eye lens cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1) 14 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) AGGGTACTCCCCACGCCGCAG 0.612000 16 37 0 0 0.003163 0 0 ZNF536 9745 broad.mit.edu 37 19 31040070 31040070 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:31040070G>A ENST00000355537.3 + 4 3691 c.3544G>A c.(3544-3546)Gat>Aat p.D1182N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CGATGAAGAGGATGTTGAAAC 0.557000 18 60 0 0 0.001523 0 0 LRTM1 57408 broad.mit.edu 37 3 54952852 54952852 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:54952852G>A ENST00000273286.5 - 3 834 c.672C>T c.(670-672)atC>atT p.I224I LRTM1_ENST00000493075.1_Silent_p.I148I|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 224 LRRCT. integral to membrane p.I224I(1) breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) GCTCATGAGGGATCCTAAGGA 0.542000 13 19 0 0 0.004007 0 0 CBY1 25776 broad.mit.edu 37 22 39064087 39064087 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:39064087C>T ENST00000216029.3 + 2 162 c.28C>T c.(28-30)Ccg>Tcg p.P10S RP3-508I15.9_ENST00000422408.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA NM_015373.3 NP_056188.1 Q9Y3M2 CBY1_HUMAN chibby homolog 1 (Drosophila) 10 cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization nuclear speck|trans-Golgi network beta-catenin binding|identical protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 Melanoma(58;0.04) TACGTTCAGTCCGAAGAAGAC 0.537000 12 35 0 0 0.001855 0 0 OR5T3 390154 broad.mit.edu 37 11 56020051 56020051 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:56020051G>A ENST00000303059.3 + 1 376 c.376G>A c.(376-378)Gga>Aga p.G126R NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TTCATTTATCGGATGTGCAAC 0.363000 36 60 0 0 0.001485 0 0 ELOVL7 79993 broad.mit.edu 37 5 60063651 60063651 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:60063651C>T ENST00000505959.1 - 7 822 c.297_splice c.e7+1 p.R99_splice ELOVL7_ENST00000438340.1_Splice_Site_p.R112_splice|ELOVL7_ENST00000508821.1_Splice_Site_p.R112_splice|ELOVL7_ENST00000425382.1_Splice_Site_p.R112_splice A1L3X0 ELOV7_HUMAN ELOVL fatty acid elongase 7 112 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) GAAACTTACCCTCAAAGCTGT 0.368000 30 39 0 0 0.002445 0 0 UGT8 7368 broad.mit.edu 37 4 115586864 115586864 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:115586864G>A ENST00000310836.6 + 4 1516 c.994G>A c.(994-996)Gga>Aga p.G332R UGT8_ENST00000394511.3_Missense_Mutation_p.G332R NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 332 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) AAAGAATCTAGGAAACAACAC 0.343000 12 20 0 0 0.001855 0 0 MYLK3 91807 broad.mit.edu 37 16 46771906 46771906 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:46771906G>A ENST00000394809.4 - 3 833 c.718C>T c.(718-720)Ctg>Ttg p.L240L MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 240 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GGCAGGGGCAGGTGGCCAGGG 0.657000 8 21 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9048749 9048749 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9048749G>A ENST00000397910.4 - 5 33085 c.32882C>T c.(32881-32883)aCc>aTc p.T10961I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10963 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 TGAAGGTGTGGTCTCTGGTTC 0.502000 11 70 0 0 0.000978 0 0 LILRB4 11006 broad.mit.edu 37 19 55175267 55175267 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:55175267G>A ENST00000391736.1 + 5 441 c.126G>A c.(124-126)ggG>ggA p.G42G LILRB4_ENST00000391733.3_Silent_p.G42G|LILRB4_ENST00000270452.2_Silent_p.G42G|LILRB4_ENST00000391734.3_Silent_p.G42G|LILRB4_ENST00000430952.2_Silent_p.G42G NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 42 Ig-like C2-type 1. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TCAGCTGGGGGAACTCTGTGA 0.607000 30 29 0 0 0.002096 0 0 SESN2 83667 broad.mit.edu 37 1 28607248 28607248 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:28607248C>T ENST00000253063.3 + 10 1699 c.1378C>T c.(1378-1380)Ctg>Ttg p.L460L NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 460 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CTTGCTGCTCCTGGAGGCGCG 0.637000 27 62 0 0 0.002096 0 0 KRT78 196374 broad.mit.edu 37 12 53242363 53242363 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:53242363G>A ENST00000304620.4 - 1 415 c.352C>T c.(352-354)Ctc>Ttc p.L118F NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 118 Coil 1A.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 TGGTTGTTGAGGGTTCTGATC 0.542000 14 24 0 0 0.002450 0 0 ATP2A2 488 broad.mit.edu 37 12 110764228 110764228 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:110764228C>T ENST00000395494.2 + 6 1060 c.497C>T c.(496-498)cCc>cTc p.P166L ATP2A2_ENST00000539276.2_Missense_Mutation_p.P193L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P193L P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 193 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CACACTGATCCCGTCCCTGAC 0.428000 7 22 0 0 0.004482 0 0 SLC12A8 84561 broad.mit.edu 37 3 124839505 124839505 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:124839505C>T ENST00000423114.2 - 7 848 c.849G>A c.(847-849)ggG>ggA p.G283G SLC12A8_ENST00000469902.1_Silent_p.G254G|SLC12A8_ENST00000314584.7_Silent_p.G7G|SLC12A8_ENST00000393469.4_Silent_p.G254G|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Silent_p.G55G A0AV02 S12A8_HUMAN solute carrier family 12, member 8 254 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 TGAGGTCGCCCCCCATGTTGA 0.632000 11 9 0 0 0.000978 0 0 HGF 3082 broad.mit.edu 37 7 81334775 81334775 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:81334775T>C ENST00000222390.5 - 17 2167 c.1941A>G c.(1939-1941)cgA>cgG p.R647R HGF_ENST00000457544.2_Silent_p.R642R NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 647 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TCACCTTCCCTCGATGATGCT 0.403000 9 11 0 0 0.004482 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42162677 42162677 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:42162677G>A ENST00000444063.1 + 11 1405 c.1273G>A c.(1273-1275)Gag>Aag p.E425K L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E493K|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E425K|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E425K|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.E493K Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 425 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 CTTCTGTTGGGAGAAATATCT 0.567000 35 76 0 0 0.001287 0 0 SYNE1 23345 broad.mit.edu 37 6 152647549 152647549 + Missense_Mutation SNP G G C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:152647549G>C ENST00000367255.5 - 79 15776 c.15175C>G c.(15175-15177)Ctg>Gtg p.L5059V SYNE1_ENST00000448038.1_Missense_Mutation_p.L4988V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4988V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4806V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5059V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5059 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGTGGGTCCAGGGTGGCTACC 0.532000 HNSCC(10;0.0054) 4 86 0 0 0.000248 0 0 OR51D1 390038 broad.mit.edu 37 11 4661929 4661929 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:4661929C>T ENST00000357605.2 + 1 985 c.909C>T c.(907-909)gtC>gtT p.V303V NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCCCCTTGTCTATGGAGCCA 0.517000 27 88 0 0 0.001271 0 0 MS4A4E 643680 broad.mit.edu 37 11 59997406 59997406 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:59997406C>T ENST00000427611.2 - 2 269 c.50G>A c.(49-51)aGa>aAa p.R17K MS4A4E_ENST00000526086.1_Silent_p.K41K|MS4A4E_ENST00000398986.2_Silent_p.K41K|MS4A4E_ENST00000425663.1_Silent_p.K41K|MS4A4E_ENST00000398984.2_Silent_p.K41K|MS4A4E_ENST00000528394.1_Silent_p.K41K membrane-spanning 4-domains, subfamily A, member 4E ovary(1) 1 TGGGTTTCCTCTTGAAGAACT 0.448000 5 5 0 0 0.000602 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77389870 77389870 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:77389870G>A ENST00000282849.5 - 9 1845 c.1427C>T c.(1426-1428)tCc>tTc p.S476F NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 476 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GCGGCTGCAGGAAGACCATGA 0.483000 15 57 0 0 0.004007 0 0 ZNF430 80264 broad.mit.edu 37 19 21239688 21239688 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:21239688C>T ENST00000261560.5 + 5 755 c.574C>T c.(574-576)Cca>Tca p.P192S NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 ATTTTCAAATCCAAATATACA 0.284000 6 24 0 0 0.001168 0 0 TRIP11 9321 broad.mit.edu 37 14 92466440 92466440 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:92466440C>T ENST00000267622.4 - 12 4943 c.4570G>A c.(4570-4572)Gag>Aag p.E1524K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1524 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TGATTTAACTCTCCAGTCTTG 0.333000 T PDGFRB AML 6 39 0 0 0.001984 0 0 DEFB129 140881 broad.mit.edu 37 20 209998 209998 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:209998G>A ENST00000246105.4 + 2 169 c.138G>A c.(136-138)caG>caA p.Q46Q NM_080831.3 NP_543021.1 Q9H1M3 DB129_HUMAN defensin, beta 129 46 defense response to bacterium extracellular region endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) AAGAGATACAGAAATGCAAGA 0.363000 21 33 0 0 0.002780 0 0 TNN 63923 broad.mit.edu 37 1 175053062 175053062 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:175053062G>A ENST00000239462.4 + 5 1338 c.1225G>A c.(1225-1227)Gac>Aac p.D409N NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 409 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAGCCGATATGACATCACTGG 0.537000 18 63 0 0 0.000958 0 0 CHL1 10752 broad.mit.edu 37 3 369967 369967 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:369967G>A ENST00000256509.2 + 5 957 c.315G>A c.(313-315)ggG>ggA p.G105G CHL1_ENST00000397491.2_Silent_p.G105G NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 105 Ig-like C2-type 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ACTTTCAAGGGAAATACCGCT 0.383000 7 20 0 0 0.003080 0 0 CHST4 10164 broad.mit.edu 37 16 71570936 71570936 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:71570936G>A ENST00000338482.5 + 3 699 c.356G>A c.(355-357)aGa>aAa p.R119K CHST4_ENST00000539698.3_Missense_Mutation_p.R119K|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R119K|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 119 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 GGTCCCCGGAGACAGTCCAGC 0.587000 22 51 0 0 0.003330 0 0 TRAF6 7189 broad.mit.edu 37 11 36511691 36511691 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:36511691G>A ENST00000526995.1 - 7 1512 c.1266C>T c.(1264-1266)ctC>ctT p.L422L TRAF6_ENST00000348124.5_Silent_p.L422L NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 422 MATH. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) AGGGCCAAGGGAGGTGGCTGT 0.483000 21 31 0 0 0.001882 0 0 SF3A2 8175 broad.mit.edu 37 19 2243485 2243485 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:2243485A>G ENST00000221494.4 + 2 486 c.68A>G c.(67-69)aAc>aGc p.N23S NM_007165.4 NP_009096.2 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2, 66kDa 23 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding NS(1)|large_intestine(1)|lung(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCGAGAGCAACCGTGACCGC 0.682000 9 47 0 0 0.004482 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227201 56227201 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:56227201C>T ENST00000341744.3 - 4 1091 c.772G>A c.(772-774)Ggg>Agg p.G258R PMEPA1_ENST00000265626.4_Missense_Mutation_p.G208R|PMEPA1_ENST00000347215.4_Missense_Mutation_p.G223R|PMEPA1_ENST00000395816.3_Missense_Mutation_p.G208R|PMEPA1_ENST00000395814.1_Missense_Mutation_p.G208R NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 258 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 AGCCGGGTCCCCTCCAGCAAG 0.647000 6 3 0 0 0.001984 0 0 CUTA 51596 broad.mit.edu 37 6 33385937 33385937 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:33385937G>A ENST00000374500.5 - 1 157 c.26C>T c.(25-27)tCt>tTt p.S9F CUTA_ENST00000492510.1_5'UTR NM_001014433.2 NP_001014433.1 O60888 CUTA_HUMAN cutA divalent cation tolerance homolog (E. coli) 0 protein localization|response to metal ion membrane enzyme binding SLC22A1/CUTA(2) kidney(1)|lung(3)|urinary_tract(1) 5 TGCGCCTCCAGAGCCAGCCAA 0.587000 6 29 0 0 0.001984 0 0 STK19 8859 broad.mit.edu 37 6 31940120 31940120 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:31940120G>A ENST00000375331.2 + 2 428 c.262G>A c.(262-264)Gaa>Aaa p.E88K STK19_ENST00000375333.2_Missense_Mutation_p.E88K NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 88 nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.E88K(1) skin(5)|upper_aerodigestive_tract(2) 7 CTCTGCGCCGGAAGACCCTAT 0.582000 16 64 0 0 0.006122 0 0 DHTKD1 55526 broad.mit.edu 37 10 12129723 12129723 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:12129723C>T ENST00000263035.4 + 4 774 c.712C>T c.(712-714)Cca>Tca p.P238S DHTKD1_ENST00000465617.1_3'UTR NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 238 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GCAGTTCCCTCCAGAGGTAAG 0.448000 71 152 0 0 0.003610 0 0 ANK1 286 broad.mit.edu 37 8 41577278 41577278 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:41577278C>T ENST00000396942.1 - 10 1091 c.1008G>A c.(1006-1008)ctG>ctA p.L336L ANK1_ENST00000265709.8_Silent_p.L369L|ANK1_ENST00000379758.2_Silent_p.L336L|ANK1_ENST00000347528.4_Silent_p.L336L|ANK1_ENST00000396945.1_Silent_p.L336L|ANK1_ENST00000289734.7_Silent_p.L336L|ANK1_ENST00000352337.4_Silent_p.L336L P16157 ANK1_HUMAN ankyrin 1, erythrocytic 336 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCAGGTGGTCCAGGGTGATGT 0.602000 37 81 0 0 0.004878 0 0 SLC22A9 114571 broad.mit.edu 37 11 63176338 63176338 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:63176338G>A ENST00000279178.3 + 9 1837 c.1588G>A c.(1588-1590)Gat>Aat p.D530N SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 530 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CACCATCCAGGATGAGAAAAA 0.498000 13 14 0 0 0.002450 0 0 KIAA0196 9897 broad.mit.edu 37 8 126061263 126061263 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:126061263G>T ENST00000318410.7 - 19 2713 c.2364C>A c.(2362-2364)aaC>aaA p.N788K KIAA0196_ENST00000517845.1_Missense_Mutation_p.N640K NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 788 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTCTTAGAAAGTTATTACACT 0.318000 10 20 1.58986e-06 3.30611e-06 0.000673 1 0 C5orf55 116349 broad.mit.edu 37 5 442795 442795 + Missense_Mutation SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:442795A>C ENST00000408966.2 - 1 463 c.143T>G c.(142-144)gTc>gGc p.V48G NM_138464.2 NP_612473.1 Q8N2X6 CE055_HUMAN chromosome 5 open reading frame 55 48 extracellular region large_intestine(1)|lung(2) 3 GGCAGGTATGACAGACGTTTG 0.597000 8 188 0 0 0.003080 0 0 GALNT13 114805 broad.mit.edu 37 2 154996921 154996921 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:154996921G>A ENST00000392825.3 + 4 781 c.214G>A c.(214-216)Gag>Aag p.E72K GALNT13_ENST00000409237.1_Missense_Mutation_p.E72K NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 72 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AGATGACCAGGAGAAAATGAA 0.383000 12 35 0 0 0.000978 0 0 CUZD1 50624 broad.mit.edu 37 10 124597015 124597015 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:124597015G>A ENST00000368904.1 - 6 1453 c.504C>T c.(502-504)ccC>ccT p.P168P CUZD1_ENST00000392790.1_Silent_p.P168P|CUZD1_ENST00000545804.1_Silent_p.P168P Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 168 CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TTGGGTAATTGGGGCTGGTGA 0.423000 9 31 0 0 0.000673 0 0 CYP2C9 1559 broad.mit.edu 37 10 96701998 96701998 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:96701998C>T ENST00000260682.6 + 3 393 c.381C>T c.(379-381)tcC>tcT p.S127S CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 127 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GGCGTTTCTCCCTCATGACGC 0.502000 8 15 0 0 0.004482 0 0 CR2 1380 broad.mit.edu 37 1 207643325 207643325 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:207643325G>A ENST00000367057.3 + 6 1292 c.1103G>A c.(1102-1104)cGa>cAa p.R368Q CR2_ENST00000367059.3_Missense_Mutation_p.R368Q|CR2_ENST00000458541.2_Missense_Mutation_p.R368Q|CR2_ENST00000367058.3_Missense_Mutation_p.R368Q NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 368 Sushi 6. 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 CAGAAAGATCGATATACCTAT 0.512000 13 11 0 0 0.003163 0 0 CTBP2 1488 broad.mit.edu 37 10 126715566 126715566 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:126715566G>A ENST00000309035.6 - 1 893 c.763C>T c.(763-765)Cgt>Tgt p.R255C CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 411 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCGTAGCCACGATTCAGGGCC 0.652000 10 34 0 0 0.000443 0 0 THADA 63892 broad.mit.edu 37 2 43793741 43793741 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:43793741G>A ENST00000403856.1 - 16 2554 c.2407C>T c.(2407-2409)Cct>Tct p.P803S THADA_ENST00000405975.2_Intron|THADA_ENST00000405006.4_Intron|THADA_ENST00000404790.1_Intron|THADA_ENST00000330266.7_Intron|THADA_ENST00000402360.2_Intron|THADA_ENST00000415080.2_Intron Q6YHU6 THADA_HUMAN thyroid adenoma associated 798 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TCAAAGAAAGGCAACAAAACT 0.294000 4 21 0 0 0.000248 0 0 HK1 3098 broad.mit.edu 37 10 71075758 71075758 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:71075758C>T ENST00000298649.3 + 1 149 c.48C>T c.(46-48)gcC>gcT p.A16A HK1_ENST00000404387.2_Intron|HK1_ENST00000360289.2_Intron|HK1_ENST00000448642.2_Intron NM_033496.2 NP_277031.1 P19367 HXK1_HUMAN hexokinase 1 0 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 GTGCTGAGGCCTGGGAGATTG 0.577000 12 63 0 0 0.002450 0 0 PRPF8 10594 broad.mit.edu 37 17 1555054 1555054 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:1555054G>A ENST00000572621.1 - 39 6663 c.6398C>T c.(6397-6399)cCa>cTa p.P2133L PRPF8_ENST00000304992.6_Missense_Mutation_p.P2133L|PRPF8_ENST00000575116.1_5'UTR Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 2133 MPN. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GTTATCTGGTGGGCTCACCCC 0.577000 54 46 0 0 0.003610 0 0 CLEC10A 10462 broad.mit.edu 37 17 6981423 6981423 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:6981423G>A ENST00000576617.1 - 3 346 c.77C>T c.(76-78)cCt>cTt p.P26L CLEC10A_ENST00000416562.2_Missense_Mutation_p.P26L|CLEC10A_ENST00000254868.4_Missense_Mutation_p.P26L|CLEC10A_ENST00000571664.1_Missense_Mutation_p.P26L Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 26 endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 GGACTGGAGAGGAAGTGGCCC 0.637000 17 19 0 0 0.006122 0 0 CSMD3 114788 broad.mit.edu 37 8 113323360 113323360 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:113323360C>T ENST00000297405.5 - 50 7976 c.7732G>A c.(7732-7734)Gga>Aga p.G2578R CSMD3_ENST00000352409.3_Missense_Mutation_p.G2508R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2474R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2538R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2578 Sushi 14. 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 ATAATATATCCATGAGGTGGG 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 37 0 0 0.001855 0 0 LRP2 4036 broad.mit.edu 37 2 170131732 170131732 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:170131732C>T ENST00000263816.3 - 14 2074 c.1789G>A c.(1789-1791)Gga>Aga p.G597R LRP2_ENST00000443831.1_Missense_Mutation_p.G528R NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 597 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGGGAGCCTCCATGAACTACA 0.358000 4 8 0 0 0.000248 0 0 TFCP2 7024 broad.mit.edu 37 12 51493552 51493552 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:51493552G>A ENST00000307660.4 - 11 1729 c.1009C>T c.(1009-1011)Cca>Tca p.P337S TFCP2_ENST00000549867.1_Missense_Mutation_p.P310S|TFCP2_ENST00000548115.1_Missense_Mutation_p.P337S|TFCP2_ENST00000257915.5_Missense_Mutation_p.P388S NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 388 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 GTTAACCTTGGACGCACCATC 0.418000 10 17 0 0 0.000673 0 0 CEP55 55165 broad.mit.edu 37 10 95262876 95262876 + Nonsense_Mutation SNP C C T rs146596670 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:95262876C>T ENST00000371485.3 + 3 494 c.190C>T c.(190-192)Cga>Tga p.R64* NM_001127182.1|NM_018131.4 NP_001120654.1|NP_060601.3 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 64 cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) CTAGAAAATTCGAGTCCTTGA 0.368000 8 28 0 0 0.004482 0 0 FAM188A 80013 broad.mit.edu 37 10 15828602 15828602 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:15828602G>A ENST00000378036.1 - 4 1365 c.189C>T c.(187-189)atC>atT p.I63I FAM188A_ENST00000277632.3_Silent_p.I358I|FAM188A_ENST00000477891.1_5'UTR Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 358 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 CCAATAATATGATTCCTAATC 0.333000 5 22 0 0 0.001168 0 0 ZNF880 400713 broad.mit.edu 37 19 52887591 52887591 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:52887591C>T ENST00000422689.2 + 4 773 c.758C>T c.(757-759)tCa>tTa p.S253L NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 253 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 AATCGAATTTCACTCCTTGCA 0.393000 4 12 0 0 0.001168 0 0 CD163 9332 broad.mit.edu 37 12 7653894 7653894 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:7653894C>T ENST00000359156.4 - 3 500 c.298G>A c.(298-300)Gcc>Acc p.A100T CD163_ENST00000432237.2_Missense_Mutation_p.A100T|CD163_ENST00000541972.1_Missense_Mutation_p.A88T|CD163_ENST00000396620.3_Missense_Mutation_p.A100T NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 100 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CATCCAGGGGCTTTGATAGCA 0.498000 7 54 0 0 0.001984 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236082 140236082 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140236082G>A ENST00000307360.5 + 1 449 c.449G>A c.(448-450)cGa>cAa p.R150Q PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R150Q|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGACTCTCGATTTCCACTA 0.438000 20 148 0 0 0.001882 0 0 RANBP3 8498 broad.mit.edu 37 19 5921218 5921218 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:5921218G>A ENST00000340578.6 - 14 1381 c.1324C>T c.(1324-1326)Cga>Tga p.R442* RANBP3_ENST00000591092.1_Nonsense_Mutation_p.R369*|RANBP3_ENST00000034275.8_Nonsense_Mutation_p.R374*|RANBP3_ENST00000439268.2_Nonsense_Mutation_p.R437*|RANBP3_ENST00000541471.1_Nonsense_Mutation_p.R314* NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 442 RanBD1. intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 TCACCTAGTCGGGACTGTAGT 0.617000 10 30 0 0 0.001855 0 0 DNAH3 55567 broad.mit.edu 37 16 21136549 21136549 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:21136549C>T ENST00000261383.3 - 9 1350 c.1351G>A c.(1351-1353)Gag>Aag p.E451K CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.E451K NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 451 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATGACCAGCTCCCTAAGCTGC 0.448000 54 68 0 0 0.003610 0 0 GFI1B 8328 broad.mit.edu 37 9 135862084 135862084 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:135862084G>A ENST00000339463.3 + 6 838 c.19G>A c.(19-21)Gtg>Atg p.V7M GFI1B_ENST00000534944.1_Missense_Mutation_p.V7M|GFI1B_ENST00000372123.1_Missense_Mutation_p.V7M|GFI1B_ENST00000372122.1_Missense_Mutation_p.V7M|GFI1B_ENST00000372124.1_Missense_Mutation_p.V7M|GFI1B_ENST00000450530.1_Missense_Mutation_p.V7M Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 7 Mediates repression of transcription. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) CTCCTTCCTGGTGAAGAGCAA 0.597000 5 5 0 0 0.001984 0 0 LRIT2 340745 broad.mit.edu 37 10 85984123 85984123 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:85984123C>T ENST00000372113.4 - 2 863 c.858G>A c.(856-858)tgG>tgA p.W286* LRIT2_ENST00000538192.1_Nonsense_Mutation_p.W286* NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 286 Ig-like. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GGGGATAAGTCCATGCAATGG 0.537000 9 27 0 0 0.000443 0 0 SLC14A2 8170 broad.mit.edu 37 18 43258959 43258959 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:43258959G>A ENST00000255226.6 + 19 3348 c.2532G>A c.(2530-2532)ctG>ctA p.L844L RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Silent_p.L321L|SLC14A2_ENST00000586448.1_Silent_p.L844L NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 844 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 CTGCCTACCTGGGTGCTGCCC 0.438000 16 13 0 0 0.001216 0 0 SPRY1 10252 broad.mit.edu 37 4 124323569 124323569 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:124323569C>T ENST00000394339.2 + 2 1163 c.823C>T c.(823-825)Cct>Tct p.P275S SPRY1_ENST00000339241.1_Missense_Mutation_p.P275S NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 275 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 CTGTTATCCTCCTGCTAAAGG 0.458000 25 22 0 0 0.002780 0 0 KRT4 3851 broad.mit.edu 37 12 53207450 53207450 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:53207450C>T ENST00000551956.1 - 1 885 c.393G>A c.(391-393)caG>caA p.Q131Q KRT4_ENST00000293774.4_Silent_p.Q205Q|KRT4_ENST00000458244.2_Silent_p.Q111Q B4DRS2 B4DRS2_HUMAN keratin 4 131 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 TCCGGACTTTCTGGATCTCAG 0.597000 54 69 0 0 0.003610 0 0 COL3A1 1281 broad.mit.edu 37 2 189861133 189861133 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:189861133G>A ENST00000304636.3 + 24 1842 c.1672G>A c.(1672-1674)Gga>Aga p.G558R COL3A1_ENST00000317840.5_Missense_Mutation_p.G558R NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 558 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGGAAGTCAAGGAGAAAGTGG 0.438000 13 21 0 0 0.001855 0 0 TACC2 10579 broad.mit.edu 37 10 123970852 123970852 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:123970852G>A ENST00000369005.1 + 9 7252 c.6912G>A c.(6910-6912)atG>atA p.M2304I TACC2_ENST00000515603.1_Missense_Mutation_p.M2259I|TACC2_ENST00000260733.3_Missense_Mutation_p.M382I|TACC2_ENST00000360561.3_Missense_Mutation_p.M382I|TACC2_ENST00000368999.1_Missense_Mutation_p.M382I|TACC2_ENST00000369000.1_Missense_Mutation_p.M8I|TACC2_ENST00000453444.2_Missense_Mutation_p.M2308I|TACC2_ENST00000515273.1_Missense_Mutation_p.M2308I|TACC2_ENST00000358010.1_Missense_Mutation_p.M450I|TACC2_ENST00000513429.1_Missense_Mutation_p.M450I|TACC2_ENST00000369004.3_Missense_Mutation_p.M382I|TACC2_ENST00000369001.1_Missense_Mutation_p.M8I|TACC2_ENST00000334433.3_Missense_Mutation_p.M2304I NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2304 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) GGCCAAAGATGAAAAAGACAC 0.498000 30 54 0 0 0.001061 0 0 GLIS1 148979 broad.mit.edu 37 1 53975611 53975611 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:53975611G>A ENST00000312233.2 - 8 2014 c.1448C>T c.(1447-1449)cCg>cTg p.P483L NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 483 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 CTGGCCCCCCGGAGAATGGCT 0.687000 4 8 0 0 0.000602 0 0 ALOX15 246 broad.mit.edu 37 17 4540538 4540538 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:4540538C>T ENST00000570836.1 - 8 919 c.823G>A c.(823-825)Gaa>Aaa p.E275K ALOX15_ENST00000574640.1_Missense_Mutation_p.E236K|ALOX15_ENST00000545513.1_Missense_Mutation_p.E297K|ALOX15_ENST00000293761.3_Missense_Mutation_p.E275K P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 275 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) AAGTCAGCTTCGAACAGTGTG 0.547000 19 17 0 0 0.001523 0 0 HLA-B 3106 broad.mit.edu 37 6 31322884 31322884 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:31322884C>T ENST00000412585.2 - 5 1040 c.1012_splice c.e5+1 p.G338_splice NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 CCTTCCCTACCTGAACTCTTC 0.582000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 15 34 0 0 0.006122 0 0 METTL18 92342 broad.mit.edu 37 1 169761910 169761910 + Silent SNP G G A rs34396097 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:169761910G>A ENST00000310392.4 - 2 1280 c.927C>T c.(925-927)ttC>ttT p.F309F C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Silent_p.F309F NM_033418.2 NP_219486.1 O95568 MET18_HUMAN methyltransferase like 18 309 F -> L (in dbSNP:rs34396097). cytoplasm protein methyltransferase activity kidney(1)|large_intestine(3)|lung(4) 8 ACAGTCTAAGGAAAGTCTGGT 0.348000 32 32 0 0 0.001512 0 0 DNAH8 1769 broad.mit.edu 37 6 38881675 38881675 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:38881675G>A ENST00000359357.3 + 65 9513 c.9259G>A c.(9259-9261)Gat>Aat p.D3087N DNAH8_ENST00000441566.1_Missense_Mutation_p.D3051N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3304N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACTCTCTCAGGATCTTGCAGT 0.373000 8 17 0 0 0.000443 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178553002 178553002 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:178553002G>A ENST00000251582.7 - 18 2848 c.2747C>T c.(2746-2748)cCa>cTa p.P916L NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 916 TSP type-1 3. 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) CACTCACACTGGCTGGGAGCA 0.662000 14 20 0 0 0.002450 0 0 ISOC2 79763 broad.mit.edu 37 19 55966676 55966676 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:55966676C>T ENST00000438389.2 - 3 994 c.160G>A c.(160-162)Gac>Aac p.D54N ISOC2_ENST00000085068.3_Missense_Mutation_p.D140N|ISOC2_ENST00000425675.2_Missense_Mutation_p.D124N NM_001136202.1 NP_001129674.1 Q96AB3 ISOC2_HUMAN isochorismatase domain containing 2 124 protein destabilization mitochondrion|nucleus catalytic activity|protein binding endometrium(1)|lung(4)|ovary(1)|stomach(1) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) AGCCCCCGGTCTAGGAGGTCC 0.652000 17 11 0 0 0.004990 0 0 BCAT2 587 broad.mit.edu 37 19 49299747 49299747 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:49299747G>A ENST00000402551.1 - 11 1578 c.958C>T c.(958-960)Ccc>Tcc p.P320S BCAT2_ENST00000598162.1_Missense_Mutation_p.P360S|BCAT2_ENST00000545387.2_Missense_Mutation_p.P268S|BCAT2_ENST00000597011.1_Missense_Mutation_p.P320S|BCAT2_ENST00000316273.6_Missense_Mutation_p.P360S|BCAT2_ENST00000599246.1_Missense_Mutation_p.P268S O15382 BCAT2_HUMAN branched chain amino-acid transaminase 2, mitochondrial 360 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 12 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) TCCATGGTGGGAATGTGGAGG 0.612000 31 54 0 0 0.002445 0 0 TMPPE 643853 broad.mit.edu 37 3 33134522 33134522 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:33134522G>A ENST00000342462.4 - 2 1356 c.1166C>T c.(1165-1167)tCt>tTt p.S389F GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.S252F|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron NM_001039770.2 NP_001034859.2 Q6ZT21 TMPPE_HUMAN transmembrane protein with metallophosphoesterase domain 389 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 TGTGTGCCCAGAAAGGATCAG 0.562000 5 99 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179605638 179605638 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179605638G>A ENST00000589042.1 - 48 12546 c.12322C>T c.(12322-12324)Cct>Tct p.P4108S TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P3791S|TTN_ENST00000460472.2_Missense_Mutation_p.P3745S|TTN_ENST00000359218.5_Missense_Mutation_p.P3870S|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.P3937S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3791 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) GCTCCCAAAGGAAGCTGACTG 0.398000 8 23 0 0 0.003080 0 0 FOXG1 2290 broad.mit.edu 37 14 29237749 29237749 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:29237749C>T ENST00000382535.3 + 2 1633 c.1264C>T c.(1264-1266)Ccg>Tcg p.P422S FOXG1_ENST00000313071.4_Missense_Mutation_p.P422S P55316 FOXG1_HUMAN forkhead box G1 422 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CCCCCACGTCCCGCACCCGTC 0.682000 12 23 0 0 0.001368 0 0 MUC16 94025 broad.mit.edu 37 19 9090523 9090523 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9090523C>T ENST00000397910.4 - 1 1495 c.1292G>A c.(1291-1293)gGa>gAa p.G431E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 431 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 ATTCAAAGTTCCTTCTGTTTC 0.493000 23 79 0 0 0.003954 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396624 38396624 + Silent SNP C C T rs141592792 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:38396624C>T ENST00000377698.3 + 2 1032 c.879C>T c.(877-879)atC>atT p.I293I NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 293 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity p.I293I(1) NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GCCCCAGCATCGTGCTGGCCG 0.617000 25 38 0 0 0.001512 0 0 KDM4D 55693 broad.mit.edu 37 11 94731314 94731314 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:94731314C>T ENST00000335080.5 + 3 1610 c.778C>T c.(778-780)Ccc>Tcc p.P260S KDM4D_ENST00000536741.1_Missense_Mutation_p.P260S NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 260 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 AAATGGGATTCCCTTCAATCG 0.567000 25 64 0 0 0.004656 0 0 SALL1 6299 broad.mit.edu 37 16 51175780 51175780 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:51175780C>T ENST00000440970.1 - 2 493 c.62G>A c.(61-63)gGa>gAa p.G21E SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G118E NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 118 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCTGTCAAGTCCGTTGTGTTC 0.552000 47 81 0 0 0.003610 0 0 AMPD2 271 broad.mit.edu 37 1 110163638 110163638 + Translation_Start_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:110163638G>A ENST00000256578.3 + 1 363 c.3G>A c.(1-3)atG>atA p.M1I AMPD2_ENST00000528667.1_Start_Codon_SNP_p.M1I|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000342115.4_Intron NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 1 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TAGACAACATGAGAAATCGTG 0.652000 8 23 0 0 0.000673 0 0 SLC9A2 6549 broad.mit.edu 37 2 103310886 103310886 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:103310886G>A ENST00000233969.2 + 6 1581 c.1439G>A c.(1438-1440)cGa>cAa p.R480Q SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 480 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 ATAACTATTCGACCACTGGTG 0.284000 7 42 0 0 0.004482 0 0 ROS1 6098 broad.mit.edu 37 6 117709098 117709098 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:117709098G>A ENST00000368508.3 - 13 2057 c.1859C>T c.(1858-1860)cCt>cTt p.P620L ROS1_ENST00000368507.3_Missense_Mutation_p.P615L|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 620 Fibronectin type-III 3. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGTGACTTCAGGAGGGTCTTG 0.433000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 5 131 0 0 0.001168 0 0 MTUS2 23281 broad.mit.edu 37 13 29600048 29600048 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:29600048G>A ENST00000431530.3 + 1 1301 c.1243G>A c.(1243-1245)Ggg>Agg p.G415R NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 405 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TTCCTTAGGAGGGGCTGATAA 0.542000 15 4 0 0 0.003163 0 0 PTAFR 5724 broad.mit.edu 37 1 28476528 28476528 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:28476528G>A ENST00000373857.3 - 2 1639 c.1005C>T c.(1003-1005)atC>atT p.I335I PTAFR_ENST00000539896.1_Silent_p.I335I|PTAFR_ENST00000305392.3_Silent_p.I335I NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 335 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) AATTGCCAGGGATCTGGTTGA 0.527000 51 113 0 0 0.003610 0 0 LPA 4018 broad.mit.edu 37 6 160999672 160999672 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:160999672C>T ENST00000447678.1 - 28 4474 c.4354G>A c.(4354-4356)Gat>Aat p.D1452N LPA_ENST00000316300.5_Missense_Mutation_p.D1452N NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3960 Kringle 13. 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.D1452N(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) ACACTGGGATCCATGGTGTAA 0.527000 8 15 0 0 0.004482 0 0 PLCB2 5330 broad.mit.edu 37 15 40591081 40591081 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:40591081G>A ENST00000260402.3 - 9 1017 c.768C>T c.(766-768)tcC>tcT p.S256S PLCB2_ENST00000557821.1_Silent_p.S256S|PLCB2_ENST00000456256.2_Silent_p.S256S NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 256 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GGAACAGCAGGGAGTTAAGCC 0.567000 53 56 0 0 0.003610 0 0 RFX6 222546 broad.mit.edu 37 6 117246643 117246643 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:117246643C>T ENST00000332958.2 + 16 1722 c.1706C>T c.(1705-1707)tCt>tTt p.S569F NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 569 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TTCACTGCTTCTCCGAGTTCA 0.433000 25 84 0 0 0.001512 0 0 ABCA13 154664 broad.mit.edu 37 7 48312795 48312795 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:48312795G>A ENST00000435803.1 + 17 3556 c.3532G>A c.(3532-3534)Ggt>Agt p.G1178S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1178 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCTTCATCATGGTTTCACTCA 0.373000 22 43 0 0 0.001523 0 0 METTL9 51108 broad.mit.edu 37 16 21666636 21666636 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:21666636C>T ENST00000358154.3 + 5 1098 c.840C>T c.(838-840)ttC>ttT p.F280F METTL9_ENST00000396014.4_Silent_p.F279F NM_001077180.1|NM_016025.3 NP_001070648.1|NP_057109.3 Q9H1A3 METL9_HUMAN methyltransferase like 9 280 endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1) 7 GBM - Glioblastoma multiforme(48;0.0759) CTGAAGTTTTCAGAAAAGCTG 0.408000 16 39 0 0 0.004007 0 0 THSD7B 80731 broad.mit.edu 37 2 137917934 137917934 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:137917934A>T ENST00000409968.1 + 6 1699 c.1521A>T c.(1519-1521)aaA>aaT p.K507N THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Missense_Mutation_p.K507N|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.K476N thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CTCAGGGGAAAAAAGGTGAGT 0.458000 8 21 0 0 0.003080 0 0 OR2A5 393046 broad.mit.edu 37 7 143747760 143747760 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:143747760G>A ENST00000408906.2 + 1 300 c.266G>A c.(265-267)aGa>aAa p.R89K NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TTGAACAAGAGAAAAACAATC 0.438000 36 109 0 0 0.001287 0 0 KIAA0319L 79932 broad.mit.edu 37 1 36020054 36020054 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:36020054G>A ENST00000325722.3 - 2 273 c.39C>T c.(37-39)tcC>tcT p.S13S NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 13 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATAAAATCCAGGAAGCAGGAT 0.463000 37 66 0 0 0.005524 0 0 TADA2A 6871 broad.mit.edu 37 17 35797851 35797851 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:35797851C>T ENST00000394395.2 + 5 378 c.205C>T c.(205-207)Cct>Tct p.P69S TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.P69S|TADA2A_ENST00000586023.1_Missense_Mutation_p.P69S|TADA2A_ENST00000417170.1_Missense_Mutation_p.P69S NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 69 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 TTCAGATTTTCCTGTCCTTGA 0.463000 51 45 0 0 0.003610 0 0 CYP2C9 1559 broad.mit.edu 37 10 96698526 96698526 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:96698526C>T ENST00000260682.6 + 1 99 c.87C>T c.(85-87)ctC>ctT p.L29L CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 29 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GAGGAAAACTCCCTCCTGGCC 0.463000 8 28 0 0 0.003080 0 0 C1orf210 149466 broad.mit.edu 37 1 43748570 43748570 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:43748570G>A ENST00000523677.1 - 3 461 c.228C>T c.(226-228)ggC>ggT p.G76G C1orf210_ENST00000423420.1_Silent_p.G76G NM_001164829.1|NM_182517.2 NP_001158301.1|NP_872323.1 Q8IVY1 CA210_HUMAN chromosome 1 open reading frame 210 76 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTGTGGGCGGCCTCCCCTTC 0.607000 21 50 0 0 0.002780 0 0 NCAPD2 9918 broad.mit.edu 37 12 6637358 6637358 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:6637358C>A ENST00000315579.5 + 25 3962 c.3163C>A c.(3163-3165)Cag>Aag p.Q1055K NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q1010K NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1055 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 CTGCGACTCCCAGCTTCGTCT 0.532000 49 136 4.44712e-29 9.37539e-29 0.003610 1 0 LRRC49 54839 broad.mit.edu 37 15 71196915 71196915 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:71196915C>T ENST00000260382.5 + 5 581 c.321C>T c.(319-321)atC>atT p.I107I LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Silent_p.I97I|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Silent_p.I63I|LRRC49_ENST00000560369.1_Silent_p.I112I NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 107 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 TATGTCCTATCATCAATGGGG 0.308000 22 41 0 0 0.002780 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23815708 23815708 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:23815708G>A ENST00000264867.2 - 8 1517 c.1398C>T c.(1396-1398)ttC>ttT p.F466F PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 466 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TGGGATGACCGAAGTGCTTGT 0.488000 18 59 0 0 0.006122 0 0 DAPP1 27071 broad.mit.edu 37 4 100738097 100738097 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:100738097G>A ENST00000296414.7 + 1 108 c.27G>A c.(25-27)ggG>ggA p.G9G DAPP1_ENST00000512369.1_Silent_p.G9G Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 3-phosphoinositides 9 signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) TTCTAGAAGGGAAGATGAGCA 0.557000 3 3 0 0 0.000602 0 0 DGKQ 1609 broad.mit.edu 37 4 955780 955780 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:955780A>G ENST00000273814.3 - 19 2378 c.2305T>C c.(2305-2307)Ttc>Ctc p.F769L NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 769 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTGCTTGTGAACTTGCCAGGC 0.632000 35 134 0 0 0.001485 0 0 MOCS1 4337 broad.mit.edu 37 6 39881527 39881527 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:39881527G>A ENST00000373186.4 - 4 773 c.636C>T c.(634-636)aaC>aaT p.N212N MOCS1_ENST00000432280.2_Silent_p.N183N|MOCS1_ENST00000340692.5_Silent_p.N212N|MOCS1_ENST00000373195.3_Silent_p.N125N|MOCS1_ENST00000373175.4_Silent_p.N183N|MOCS1_ENST00000308559.7_Silent_p.N212N|MOCS1_ENST00000373188.2_Silent_p.N212N|MOCS1_ENST00000425303.2_Silent_p.N212N NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 212 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) CCTTCACAGGGTTGTAGCCCA 0.612000 28 49 0 0 0.002836 0 0 MZF1 7593 broad.mit.edu 37 19 59080689 59080689 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:59080689G>A ENST00000215057.2 - 5 1287 c.727C>T c.(727-729)Ccc>Tcc p.P243S MZF1_ENST00000594108.1_Missense_Mutation_p.P243S|MZF1_ENST00000599369.1_Missense_Mutation_p.P243S|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.P243S NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 243 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) AGGGCCCTGGGGTGCTCCCTC 0.607000 10 19 0 0 0.000443 0 0 ESF1 51575 broad.mit.edu 37 20 13756650 13756650 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:13756650G>A ENST00000202816.1 - 3 1011 c.904C>T c.(904-906)Ctt>Ttt p.L302F NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 302 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 CCCCTTGCAAGATCAGGGCCA 0.418000 54 95 0 0 0.003610 0 0 MKNK2 2872 broad.mit.edu 37 19 2043508 2043508 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:2043508C>T ENST00000250896.3 - 6 657 c.413G>A c.(412-414)gGa>gAa p.G138E MKNK2_ENST00000309340.7_Missense_Mutation_p.G138E|MKNK2_ENST00000541165.1_Missense_Mutation_p.G7E|MKNK2_ENST00000591601.1_Missense_Mutation_p.G138E NM_199054.2 NP_951009.1 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 138 Protein kinase. cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(3)|large_intestine(3)|lung(3) 10 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTACCTGTGTCCCTGGCACTG 0.582000 16 23 0 0 0.004990 0 0 TTN 7273 broad.mit.edu 37 2 179568946 179568946 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179568946G>A ENST00000589042.1 - 106 30375 c.30151C>T c.(30151-30153)Cga>Tga p.R10051* TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R9734*|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9734 Glu-rich. 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) TCTTCTGCTCGAACATCTGCA 0.423000 13 56 0 0 0.001368 0 0 KCNK18 338567 broad.mit.edu 37 10 118969418 118969418 + Missense_Mutation SNP G G A rs3026042 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:118969418G>A ENST00000334549.1 + 3 763 c.763G>A c.(763-765)Gaa>Aaa p.E255K NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 255 E -> K (in dbSNP:rs3026042). integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CTCGTGTCCCGAACTGGTGTT 0.532000 14 30 0 0 0.002450 0 0 CDHR3 222256 broad.mit.edu 37 7 105624729 105624729 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:105624729C>T ENST00000542731.1 + 4 615 c.507C>T c.(505-507)ccC>ccT p.P169P CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Silent_p.P169P|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000478080.1_Silent_p.P81P Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 169 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 GAAACATTCCCCTCAGTGTAA 0.502000 9 20 0 0 0.004482 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55329935 55329935 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:55329935G>A ENST00000391728.4 + 3 269 c.236G>A c.(235-237)aGc>aAc p.S79N KIR3DL1_ENST00000538269.1_Missense_Mutation_p.S79N|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.S79N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.S79N|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.S79N NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) TTCCAGGAGAGCTTCAACATG 0.507000 14 48 0 0 0.001855 0 0 FAM135B 51059 broad.mit.edu 37 8 139145022 139145022 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:139145022C>T ENST00000395297.1 - 20 4205 c.4035G>A c.(4033-4035)atG>atA p.M1345I NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1345 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGTTGTTGATCATTTCTGCAT 0.502000 HNSCC(54;0.14) 60 136 0 0 0.003610 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55381350 55381350 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:55381350G>A ENST00000398661.2 - 5 570 c.439C>T c.(439-441)Cgc>Tgc p.R147C HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.R117C|HMGCLL1_ENST00000370850.2_Intron NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 147 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) ACAGGATAGCGAACTCCTGGA 0.343000 4 25 0 0 0.000602 0 0 RPSAP52 204010 broad.mit.edu 37 12 66152542 66152542 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:66152542C>T ENST00000489520.2 - 0 401 NR_026825.2 GCCAGTATTCCTGGAGGATAT 0.502000 4 9 0 0 0.000248 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178540948 178540948 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:178540948G>A ENST00000251582.7 - 22 3657 c.3556C>T c.(3556-3558)Ccc>Tcc p.P1186S NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1186 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) TTTTCATAGGGGCTCGGTCGT 0.463000 72 65 0 0 0.003610 0 0 BMP10 27302 broad.mit.edu 37 2 69098402 69098402 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:69098402G>A ENST00000295379.1 - 1 247 c.89C>T c.(88-90)tCt>tTt p.S30F NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 30 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 TTCCAGAGGAGACTGCTCTAG 0.507000 7 45 0 0 0.001984 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215950 20215950 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:20215950G>A ENST00000331723.1 + 1 364 c.364G>A c.(364-366)Gac>Aac p.D122N NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATGGCCTATGACAGGTATGT 0.502000 6 9 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179468902 179468902 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179468902C>T ENST00000589042.1 - 282 54736 c.54512G>A c.(54511-54513)gGa>gAa p.G18171E TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16530E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9106E|TTN_ENST00000359218.5_Missense_Mutation_p.G9231E|TTN_ENST00000342992.6_Missense_Mutation_p.G15603E|TTN_ENST00000342175.6_Missense_Mutation_p.G9298E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16530 Ig-like 105. 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) TTTTGGTTTTCCTGGAGGTCC 0.468000 10 16 0 0 0.000443 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919420 51919420 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:51919420G>A ENST00000353836.5 - 5 977 c.754_splice c.e5-1 p.A252_splice CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000439889.2_Splice_Site_p.A194_splice|SIGLEC10_ENST00000339313.5_Splice_Site_p.A252_splice|SIGLEC10_ENST00000436984.2_Splice_Site_p.A204_splice|SIGLEC10_ENST00000441969.3_Splice_Site_p.A194_splice|SIGLEC10_ENST00000356298.5_Splice_Site_p.A252_splice|SIGLEC10_ENST00000432469.2_Splice_Site_p.A169_splice NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 252 Ig-like C2-type 2. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGGGCTCCAGGGCTggagtgg 0.572000 5 9 0 0 0.000602 0 0 ACACB 32 broad.mit.edu 37 12 109692060 109692060 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:109692060C>T ENST00000338432.7 + 44 6206 c.6087C>T c.(6085-6087)ccC>ccT p.P2029P ACACB_ENST00000377848.3_Silent_p.P2029P|ACACB_ENST00000377854.5_Silent_p.P1959P|ACACB_ENST00000543201.1_Silent_p.P695P O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2029 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCACTGACCCCATTGACAGAG 0.473000 42 90 0 0 0.002222 0 0 PELP1 27043 broad.mit.edu 37 17 4576310 4576310 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:4576310G>A ENST00000301396.4 - 16 2633 c.2408C>T c.(2407-2409)cCc>cTc p.P803L PELP1_ENST00000572293.1_Missense_Mutation_p.P709L|PELP1_ENST00000436683.2_Missense_Mutation_p.P512L|PELP1_ENST00000269230.7_Missense_Mutation_p.P570S|PELP1_ENST00000574876.1_Missense_Mutation_p.P659L Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 659 Pro-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 GGCCCTGAAGGGCGATGGGGC 0.701000 16 20 0 0 0.004990 0 0 LPAR3 23566 broad.mit.edu 37 1 85331488 85331488 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:85331488G>A ENST00000440886.1 - 1 354 c.316C>T c.(316-318)Cag>Tag p.Q106* LPAR3_ENST00000370611.3_Nonsense_Mutation_p.Q106*|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 106 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 AGAAGCCCCTGACGGAGAAAC 0.502000 88 163 0 0 0.003610 0 0 FKRP 79147 broad.mit.edu 37 19 47259941 47259941 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:47259941C>T ENST00000318584.5 + 4 1531 c.1234C>T c.(1234-1236)Cac>Tac p.H412Y FKRP_ENST00000391909.3_Missense_Mutation_p.H412Y|FKRP_ENST00000600646.1_Intron NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 412 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) CGAAAGCAACCACTTGCACGT 0.637000 4 22 0 0 0.001168 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501749 140501749 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140501749G>A ENST00000194152.1 + 1 169 c.169G>A c.(169-171)Gaa>Aaa p.E57K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 57 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGAATTGGGGAACTGGCCTC 0.557000 8 48 0 0 0.000443 0 0 HTR1E 3354 broad.mit.edu 37 6 87725313 87725313 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:87725313C>T ENST00000305344.4 + 2 964 c.261C>T c.(259-261)cgC>cgT p.R87R HTR1E_ENST00000369584.1_Silent_p.R87R NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 87 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCATGGATCGCTGGAAGCTTG 0.567000 59 55 0 0 0.003610 0 0 STAB1 23166 broad.mit.edu 37 3 52552328 52552328 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:52552328G>A ENST00000321725.6 + 46 4838 c.4761_splice c.e46-1 p.E1588_splice NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1588 FAS1 5. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCCCCCCAGGAGCTCCTGAG 0.647000 14 34 0 0 0.001523 0 0 OR4K2 390431 broad.mit.edu 37 14 20344713 20344713 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:20344713G>A ENST00000298642.2 + 1 323 c.287G>A c.(286-288)gGc>gAc p.G96D NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTTTGATGGCTGCCTTACC 0.408000 28 51 0 0 0.001061 0 0 VTI1A 143187 broad.mit.edu 37 10 114427985 114427985 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:114427985G>A ENST00000393077.2 + 6 552 c.436G>A c.(436-438)Ggt>Agt p.G146S VTI1A_ENST00000432306.1_Missense_Mutation_p.G146S NM_145206.2 NP_660207.2 Q96AJ9 VTI1A_HUMAN vesicle transport through interaction with t-SNAREs 1A 146 intracellular protein transport|retrograde transport, endosome to Golgi SNARE complex protein transporter activity|SNAP receptor activity VTI1A/TCF7L2(8) breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 Colorectal(252;0.0314)|Breast(234;0.183) Epithelial(162;0.0126)|all cancers(201;0.0487) AGAGCAAATTGGTCAGGAGAT 0.343000 T TCF7L2 colorectal 4 15 0 0 0.000248 0 0 GPHB5 122876 broad.mit.edu 37 14 63784480 63784480 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:63784480C>T ENST00000539258.1 - 0 140 Q86YW7 GPHB5_HUMAN glycoprotein hormone beta 5 extracellular region hormone activity breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) TGCGCAGGTTCCCACTGGAGG 0.622000 13 41 0 0 0.001855 0 0 SEMA4C 54910 broad.mit.edu 37 2 97526999 97526999 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:97526999G>A ENST00000305476.5 - 15 1998 c.1866C>T c.(1864-1866)gcC>gcT p.A622A NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 622 Ig-like C2-type. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GGTAGGCCCCGGCATGGCGGG 0.697000 15 12 0 0 0.001216 0 0 P4HA3 283208 broad.mit.edu 37 11 73997402 73997402 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:73997402C>T ENST00000331597.4 - 6 849 c.804G>A c.(802-804)ttG>ttA p.L268L P4HA3_ENST00000427714.2_Silent_p.L268L NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 268 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TTTCATATTTCAAGACATTCC 0.507000 7 113 0 0 0.003080 0 0 SPSB4 92369 broad.mit.edu 37 3 140785431 140785431 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:140785431C>T ENST00000310546.2 + 2 1229 c.485C>T c.(484-486)cCg>cTg p.P162L NM_080862.1 NP_543138.1 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box containing 4 162 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 GTGGCCTACCCGGCCTTTCTG 0.682000 4 4 0 0 0.000248 0 0 OR52K2 119774 broad.mit.edu 37 11 4471496 4471496 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:4471496C>T ENST00000325719.4 + 1 972 c.927C>T c.(925-927)ttC>ttT p.F309F NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGGAGTATTCCCAAGAAAGG 0.493000 10 15 0 0 0.000443 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793164 65793164 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:65793164G>A ENST00000312106.5 - 1 824 c.687C>T c.(685-687)tcC>tcT p.S229S NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 229 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CATGATGACGGGACCTGCCAT 0.587000 6 31 0 0 0.001168 0 0 MYH7 4625 broad.mit.edu 37 14 23885492 23885492 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:23885492G>A ENST00000355349.3 - 34 4836 c.4674C>T c.(4672-4674)atC>atT p.I1558I NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1558 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGGCCCGGAGGATCTTGCCCT 0.647000 6 86 0 0 0.001984 0 0 CDH5 1003 broad.mit.edu 37 16 66431897 66431897 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:66431897G>A ENST00000341529.3 + 9 1521 c.1373G>A c.(1372-1374)gGa>gAa p.G458E CDH5_ENST00000539168.1_5'UTR NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 458 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) ACCCCCACAGGAAAAGAATCC 0.537000 35 86 0 0 0.001485 0 0 DNAH9 1770 broad.mit.edu 37 17 11725779 11725779 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:11725779G>A ENST00000262442.3 + 47 8943 c.8875G>A c.(8875-8877)Gga>Aga p.G2959R DNAH9_ENST00000454412.2_Missense_Mutation_p.G2959R NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2959 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCCCCTGTGGGAAACAAGCT 0.542000 26 44 0 0 0.001061 0 0 DSCAM 1826 broad.mit.edu 37 21 41414351 41414351 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:41414351G>A ENST00000400454.1 - 32 6110 c.5633C>T c.(5632-5634)cCt>cTt p.P1878L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1878 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCCATCCTGAGGTTTGGGGGG 0.572000 20 30 0 0 0.001523 0 0 MAP2K6 5608 broad.mit.edu 37 17 67515502 67515502 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:67515502G>A ENST00000590474.1 + 5 582 c.295G>A c.(295-297)Gat>Aat p.D99N MAP2K6_ENST00000589647.1_Missense_Mutation_p.D43N NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 99 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|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|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) GCTACTGATGGATTTGGATAT 0.468000 61 102 0 0 0.003610 0 0 CAPN12 147968 broad.mit.edu 37 19 39230812 39230812 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:39230812G>A ENST00000328867.4 - 5 916 c.608C>T c.(607-609)gCt>gTt p.A203V CAPN12_ENST00000601953.1_Missense_Mutation_p.A54V NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 203 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) ATCCACAAAAGCCTCATTCAT 0.607000 5 13 0 0 0.000602 0 0 TTBK1 84630 broad.mit.edu 37 6 43225648 43225648 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:43225648C>T ENST00000259750.4 + 10 1043 c.960C>T c.(958-960)tcC>tcT p.S320S TTBK1_ENST00000304139.5_Silent_p.S269S NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 320 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCCTCCTGTCCACGAGCACCT 0.602000 16 51 0 0 0.004990 0 0 KCNH5 27133 broad.mit.edu 37 14 63175101 63175101 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:63175101G>A ENST00000322893.7 - 11 2360 c.2092C>T c.(2092-2094)Ctc>Ttc p.L698F KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 698 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GGAATGCTGAGGGTCACCTCA 0.542000 55 96 0 0 0.003610 0 0 SSX2IP 117178 broad.mit.edu 37 1 85128012 85128012 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:85128012G>A ENST00000437941.2 - 7 1067 c.715C>T c.(715-717)Cgt>Tgt p.R239C SSX2IP_ENST00000342203.3_Missense_Mutation_p.R266C|SSX2IP_ENST00000370612.4_Missense_Mutation_p.R266C|SSX2IP_ENST00000605755.1_Missense_Mutation_p.R239C|SSX2IP_ENST00000603677.1_Intron NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 266 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TGTTTCTGACGATATTCATAA 0.323000 32 51 0 0 0.001512 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554513 140554513 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140554513C>T ENST00000231137.3 + 1 2271 c.2097C>T c.(2095-2097)ttC>ttT p.F699F NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 699 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTCGCTCTTCCTCCTCTCGG 0.706000 5 105 0 0 0.001984 0 0 DUSP27 92235 broad.mit.edu 37 1 167064132 167064132 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:167064132G>A ENST00000361200.2 + 2 212 c.46G>A c.(46-48)Gag>Aag p.E16K DUSP27_ENST00000443333.1_Missense_Mutation_p.E16K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E16K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 16 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGTCCCAAGCGAGGAGGACGA 0.572000 14 18 0 0 0.006122 0 0 E2F7 144455 broad.mit.edu 37 12 77449688 77449688 + Nonsense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:77449688C>A ENST00000322886.7 - 3 551 c.316G>T c.(316-318)Gga>Tga p.G106* E2F7_ENST00000416496.2_Nonsense_Mutation_p.G106* NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 106 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 CGGAATAGTCCCTTTTTCTTC 0.448000 27 34 7.01153e-11 1.46512e-10 0.001271 1 0 OR6C70 390327 broad.mit.edu 37 12 55863785 55863785 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:55863785G>A ENST00000327335.4 - 1 137 c.138C>T c.(136-138)ctC>ctT p.L46L RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 CCAGCAGAATGAGGGCAATGA 0.388000 10 22 0 0 0.000673 0 0 NISCH 11188 broad.mit.edu 37 3 52524782 52524782 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:52524782C>T ENST00000345716.4 + 19 3809 c.3675C>T c.(3673-3675)ttC>ttT p.F1225F NISCH_ENST00000479054.1_Silent_p.F1225F NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1225 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCCAGTGCTTCGTGCTAAAGC 0.532000 68 103 0 0 0.003610 0 0 RASA2 5922 broad.mit.edu 37 3 141289762 141289762 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:141289762T>C ENST00000286364.3 + 10 907 c.872T>C c.(871-873)cTa>cCa p.L291P RASA2_ENST00000452898.1_Missense_Mutation_p.L291P Q15283 RASA2_HUMAN RAS p21 protein activator 2 291 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 AGGTACTTGCTACAGCCAAGA 0.358000 11 24 0 0 0.001368 0 0 KCNT2 343450 broad.mit.edu 37 1 196438197 196438197 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:196438197C>T ENST00000367433.5 - 6 487 c.384_splice c.e6-1 p.G129_splice KCNT2_ENST00000294725.8_Splice_Site_p.G129_splice|KCNT2_ENST00000367431.4_Splice_Site_p.G129_splice|KCNT2_ENST00000451324.2_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 129 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CCAGATGTTTCCCTTCCAAGA 0.343000 4 11 0 0 0.000248 0 0 TTPA 7274 broad.mit.edu 37 8 63973924 63973924 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:63973924G>A ENST00000260116.4 - 5 755 c.724C>T c.(724-726)Cct>Tct p.P242S TTPA_ENST00000521138.1_Intron NM_000370.3 NP_000361.1 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 242 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) TATTCCAGAGGAAGAATGTCT 0.388000 19 41 0 0 0.001216 0 0 TSGA13 114960 broad.mit.edu 37 7 130368484 130368484 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:130368484G>A ENST00000456951.1 - 4 901 c.50C>T c.(49-51)tCa>tTa p.S17L TSGA13_ENST00000356588.3_Missense_Mutation_p.S17L Q96PP4 TSG13_HUMAN testis specific, 13 17 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) GCTATTTTCTGAAGTCTTTGA 0.413000 191 425 0 0 0.003610 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141460944 141460944 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:141460944G>A ENST00000389328.4 - 2 837 c.823C>T c.(823-825)Ctt>Ttt p.L275F TRAPPC9_ENST00000438773.2_Missense_Mutation_p.L177F|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.L177F NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 177 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 ACACAGAGAAGGGGGATCTTA 0.532000 7 23 0 0 0.001984 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733157 52733157 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:52733157C>A ENST00000360540.5 - 7 1234 c.828G>T c.(826-828)agG>agT p.R276S PCMTD1_ENST00000544451.1_Missense_Mutation_p.R200S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R276S NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 276 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TCTTTCTTTTCCTTTTGGGTG 0.408000 12 180 4.93089e-13 1.03263e-12 0.002450 1 0 VSIG8 391123 broad.mit.edu 37 1 159827966 159827966 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:159827966T>C ENST00000368100.1 - 3 479 c.344A>G c.(343-345)aAc>aGc p.N115S RP11-190A12.7_ENST00000544342.1_3'UTR NM_001013661.1 NP_001013683.1 Q5VU13 VSIG8_HUMAN V-set and immunoglobulin domain containing 8 115 Ig-like V-type 1. integral to membrane central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(112;0.0597) TACCTGCAGGTTCATGAGGTT 0.557000 60 51 0 0 0.003610 0 0 NPAS3 64067 broad.mit.edu 37 14 34270275 34270275 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:34270275G>A ENST00000346562.2 + 11 2740 c.2666G>A c.(2665-2667)gGc>gAc p.G889D NPAS3_ENST00000551492.1_Missense_Mutation_p.G926D|NPAS3_ENST00000548645.1_Missense_Mutation_p.G891D|NPAS3_ENST00000357798.5_Missense_Mutation_p.G908D|NPAS3_ENST00000356141.4_Missense_Mutation_p.G921D NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 921 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TACAGCAACGGCATCCACGCG 0.682000 3 5 0 0 0.004672 0 0 PCDH15 65217 broad.mit.edu 37 10 55663086 55663086 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:55663086G>A ENST00000373965.2 - 27 3833 c.3439C>T c.(3439-3441)Cat>Tat p.H1147Y PCDH15_ENST00000320301.6_Missense_Mutation_p.H1140Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.H1140Y|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.H1145Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.H1118Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.H1140Y|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.H1147Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.H1069Y|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.H1103Y|PCDH15_ENST00000409834.1_Missense_Mutation_p.H751Y|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.H1140Y|PCDH15_ENST00000395442.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1140 Cadherin 11. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACTGGGGGATGATTATTTTCA 0.368000 HNSCC(58;0.16) 5 27 0 0 0.001168 0 0 KIAA1429 25962 broad.mit.edu 37 8 95518884 95518884 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:95518884G>A ENST00000297591.5 - 16 4016 c.3941C>T c.(3940-3942)tCc>tTc p.S1314F KIAA1429_ENST00000437199.1_Missense_Mutation_p.S1314F NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1314 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TAGAGAATTGGAGAGCTGCTC 0.398000 37 56 0 0 0.001485 0 0 CCDC28A 25901 broad.mit.edu 37 6 139109522 139109522 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:139109522C>T ENST00000332797.6 + 5 922 c.767C>T c.(766-768)tCc>tTc p.S256F NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 256 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TTGAATTCTTCCATGTATCCT 0.229000 12 41 0 0 0.002450 0 0 OR51B6 390058 broad.mit.edu 37 11 5373580 5373580 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:5373580C>T ENST00000380219.1 + 1 843 c.843C>T c.(841-843)ttC>ttT p.F281F HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F281F(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTTCCTTTTCCCACCTTTTA 0.383000 20 42 0 0 0.000958 0 0 CSF2RA 1438 broad.mit.edu 37 X 1424358 1424358 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:1424358C>T ENST00000381524.3 + 12 1249 c.1063C>T c.(1063-1065)Ctg>Ttg p.L355L CSF2RA_ENST00000355805.2_Silent_p.G222G|CSF2RA_ENST00000501036.2_Silent_p.L222L|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Silent_p.L355L|CSF2RA_ENST00000381509.3_Silent_p.L355L|CSF2RA_ENST00000432318.2_Silent_p.L355L|CSF2RA_ENST00000381500.1_Silent_p.G322G|CSF2RA_ENST00000417535.2_Silent_p.L389L|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000361536.3_Silent_p.G322G P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 355 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 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) Sargramostim(DB00020) GATACAGCGGCTGTTCCCGCC 0.537000 40 78 0 0 0.001951 0 0 LPIN3 64900 broad.mit.edu 37 20 39986637 39986637 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:39986637C>A ENST00000373257.3 + 17 2246 c.2155C>A c.(2155-2157)Ctt>Att p.L719I LPIN3_ENST00000491528.1_3'UTR NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 719 C-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) GGGCCCCATCCTTCTGTCTCC 0.662000 16 36 1.45105e-14 3.04284e-14 0.006122 1 0 RAI1 10743 broad.mit.edu 37 17 17701531 17701531 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:17701531C>T ENST00000353383.1 + 3 5738 c.5269C>T c.(5269-5271)Cct>Tct p.P1757S RAI1_ENST00000261641.6_Intron NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1757 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GCCCCCCAGGCCTGACGGCCC 0.701000 7 7 0 0 0.004482 0 0 ESYT3 83850 broad.mit.edu 37 3 138184193 138184193 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:138184193G>A ENST00000389567.4 + 10 1285 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 367 C2 1. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CATGGTGTACGAAGTCCCTGG 0.557000 50 122 0 0 0.003610 0 0 TMBIM4 51643 broad.mit.edu 37 12 66531946 66531946 + Splice_Site SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:66531946A>G ENST00000358230.3 - 7 631 c.510_splice c.e7-1 p.F171_splice TMBIM4_ENST00000542724.1_Splice_Site_p.F140_splice|TMBIM4_ENST00000286424.7_Splice_Site_p.F218_splice|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Splice_Site_p.G155_splice NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 171 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TAAAAAAAAAACTATAGGGAA 0.338000 4 20 0 0 0.000248 0 0 MTUS2 23281 broad.mit.edu 37 13 29600623 29600623 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:29600623G>A ENST00000431530.3 + 1 1876 c.1818G>A c.(1816-1818)ggG>ggA p.G606G NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 596 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GCCCCAGTGGGATCCCCAAGC 0.532000 9 23 0 0 0.000443 0 0 HSPG2 3339 broad.mit.edu 37 1 22173852 22173852 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:22173852G>A ENST00000374695.3 - 62 8238 c.8159C>T c.(8158-8160)cCc>cTc p.P2720L HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2720 Ig-like C2-type 12. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTCACCGGAGGGGCTGCCGGC 0.607000 23 19 0 0 0.001271 0 0 DICER1 23405 broad.mit.edu 37 14 95556999 95556999 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:95556999G>A ENST00000526495.1 - 29 5896 c.5603_splice c.e29-1 p.P1869_splice DICER1_ENST00000556045.1_Splice_Site_p.P767_splice|DICER1_ENST00000393063.1_Splice_Site_p.P1869_splice|DICER1_ENST00000541352.1_Splice_Site_p.A1814_splice|DICER1_ENST00000527414.1_Splice_Site_p.P1869_splice|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000343455.3_Splice_Site_p.P1869_splice Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1869 DRBM. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTCTCAGCCGGGCTGTAAAAA 0.428000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 56 66 0 0 0.003610 0 0 MKRN3 7681 broad.mit.edu 37 15 23812438 23812438 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:23812438C>T ENST00000314520.3 + 1 1985 c.1509C>T c.(1507-1509)ttC>ttT p.F503F MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 503 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AAGAATATTTCAATTTGATTC 0.458000 41 65 0 0 0.001706 0 0 CNOT3 4849 broad.mit.edu 37 19 54649504 54649504 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54649504C>T ENST00000406403.1 + 7 2257 c.654C>T c.(652-654)gaC>gaT p.D218D CNOT3_ENST00000221232.5_Silent_p.D218D|CNOT3_ENST00000358389.3_Silent_p.D37D O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 218 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGGACCCCGACTTCGAGGAGA 0.572000 13 38 0 0 0.004007 0 0 TRBV29-1 28558 broad.mit.edu 37 7 142448482 142448482 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:142448482G>A ENST00000422143.2 + 0 143 GCCAAGCAGGGATATCTGTCA 0.522000 19 45 0 0 0.003954 0 0 FGFR2 2263 broad.mit.edu 37 10 123325068 123325068 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:123325068A>G ENST00000358487.5 - 3 532 c.260T>C c.(259-261)cTt>cCt p.L87P FGFR2_ENST00000351936.6_Missense_Mutation_p.L87P|FGFR2_ENST00000369060.4_Missense_Mutation_p.L87P|FGFR2_ENST00000457416.2_Missense_Mutation_p.L87P|FGFR2_ENST00000359354.2_Missense_Mutation_p.L87P|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.L87P|FGFR2_ENST00000369056.1_Missense_Mutation_p.L87P|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000346997.2_Missense_Mutation_p.L87P|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Intron NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 87 Ig-like C2-type 1. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CTCCCCAATAAGCACTGTCCT 0.547000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 13 71 0 0 0.003163 0 0 VAT1L 57687 broad.mit.edu 37 16 77918642 77918642 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:77918642G>A ENST00000302536.2 + 7 1173 c.1020G>A c.(1018-1020)ggG>ggA p.G340G NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 340 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 AACTCATAGGGCTCTACAACC 0.483000 9 16 0 0 0.000443 0 0 ADCY8 114 broad.mit.edu 37 8 131792904 131792904 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:131792904C>T ENST00000286355.5 - 18 5580 c.3488G>A c.(3487-3489)gGa>gAa p.G1163E ADCY8_ENST00000377928.3_Missense_Mutation_p.G1032E NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1163 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTTGATTTTTCCTTCCTGTTC 0.512000 HNSCC(32;0.087) 30 56 0 0 0.002836 0 0 HCN1 348980 broad.mit.edu 37 5 45353282 45353282 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:45353282C>T ENST00000303230.4 - 5 1354 c.1297G>A c.(1297-1299)Gat>Aat p.D433N NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 433 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TCATAGTAATCATGTATCTTC 0.338000 14 16 0 0 0.002450 0 0 GP6 51206 broad.mit.edu 37 19 55525913 55525913 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:55525913G>A ENST00000310373.3 - 8 1427 c.1400C>T c.(1399-1401)tCc>tTc p.S467F GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 123 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) TTGCACAGAGGATGGAACAGA 0.537000 15 60 0 0 0.004007 0 0 SRMS 6725 broad.mit.edu 37 20 62173646 62173646 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:62173646C>T ENST00000217188.1 - 5 856 c.816G>A c.(814-816)aaG>aaA p.K272K NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 272 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) TCTGGATCTCCTTGGCGAGGT 0.642000 22 33 0 0 0.004656 0 0 ZNF354B 117608 broad.mit.edu 37 5 178309907 178309907 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:178309907C>T ENST00000322434.3 + 5 680 c.454C>T c.(454-456)Ctt>Ttt p.L152F NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TACAAAAATCCTTACTGTAGA 0.313000 17 31 0 0 0.004990 0 0 CPN2 1370 broad.mit.edu 37 3 194062171 194062171 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:194062171G>A ENST00000323830.3 - 2 1350 c.1261C>T c.(1261-1263)Cag>Tag p.Q421* CPN2_ENST00000429275.1_Nonsense_Mutation_p.Q421* NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 421 LRRCT. protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CAGTAGGTCTGGATGTTCAGG 0.622000 18 22 0 0 0.006122 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509677 106509677 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:106509677G>A ENST00000359195.3 + 2 1981 c.1671G>A c.(1669-1671)gcG>gcA p.A557A PIK3CG_ENST00000440650.2_Silent_p.A557A|PIK3CG_ENST00000496166.1_Silent_p.A557A NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 557 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.A557A(2) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AATTGGAGGCGATCATAGCCA 0.532000 22 36 0 0 0.001882 0 0 TECPR1 25851 broad.mit.edu 37 7 97852324 97852324 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:97852324C>T ENST00000447648.2 - 21 3205 c.2906G>A c.(2905-2907)gGc>gAc p.G969D TECPR1_ENST00000379795.3_Missense_Mutation_p.G971D|TECPR1_ENST00000479975.1_5'UTR Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 969 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTCCGACACGCCCAGGCGGCA 0.652000 6 13 0 0 0.003080 0 0 KCNK1 3775 broad.mit.edu 37 1 233802528 233802528 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:233802528C>T ENST00000366621.3 + 2 711 c.543C>T c.(541-543)atC>atT p.I181I KCNK1_ENST00000366620.1_Silent_p.I65I|KCNK1_ENST00000472190.1_3'UTR NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 181 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TGGTGGCCATCGTCCATGCCG 0.602000 50 35 0 0 0.003610 0 0 PCDH19 57526 broad.mit.edu 37 X 99605699 99605699 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:99605699C>T ENST00000373034.4 - 4 4295 c.2620G>A c.(2620-2622)Gaa>Aaa p.E874K PCDH19_ENST00000420881.2_Missense_Mutation_p.E827K|PCDH19_ENST00000255531.7_Missense_Mutation_p.E827K NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 874 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GAATAGTTTTCAGTCTGCAAT 0.358000 18 7 0 0 0.001882 0 0 OR8K5 219453 broad.mit.edu 37 11 55927452 55927452 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:55927452G>A ENST00000313447.1 - 1 341 c.342C>T c.(340-342)atC>atT p.I114I NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TGGCTGACAGGATGAAAAATT 0.423000 33 30 0 0 0.003271 0 0 TBX5 6910 broad.mit.edu 37 12 114832685 114832685 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:114832685G>A ENST00000310346.4 - 6 1190 c.524C>T c.(523-525)tCc>tTc p.S175F TBX5_ENST00000405440.2_Missense_Mutation_p.S175F|TBX5_ENST00000349716.5_Missense_Mutation_p.S125F|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.S175F NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 175 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TTTGTGCATGGAATTTAGAAT 0.373000 113 145 0 0 0.003610 0 0 OR51I2 390064 broad.mit.edu 37 11 5475610 5475610 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:5475610G>A ENST00000341449.2 + 1 973 c.892G>A c.(892-894)Gaa>Aaa p.E298K HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAGACAAAGGAAATCCGCCG 0.438000 25 123 0 0 0.004878 0 0 XIRP2 129446 broad.mit.edu 37 2 168099701 168099701 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:168099701C>T ENST00000409195.1 + 9 1888 c.1799C>T c.(1798-1800)tCc>tTc p.S600F XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S600F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S378F|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 425 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGTGATATTTCCAGGGGCATT 0.433000 7 26 0 0 0.003080 0 0 ATP5F1 515 broad.mit.edu 37 1 112002250 112002250 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:112002250A>T ENST00000369722.3 + 6 1291 c.685A>T c.(685-687)Aca>Tca p.T229S ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.T168S NM_001688.4 NP_001679.2 P24539 AT5F1_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 229 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) AAGCATCTCCACACAGCAGGT 0.428000 9 15 0 0 0.000673 0 0 EPB41L2 2037 broad.mit.edu 37 6 131190962 131190962 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:131190962G>A ENST00000337057.3 - 15 2529 c.2348C>T c.(2347-2349)cCg>cTg p.P783L EPB41L2_ENST00000529208.1_Missense_Mutation_p.P713L|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.P161L|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.P713L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P713L|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P783L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P713L|EPB41L2_ENST00000392427.3_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 783 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTTGGCTGCCGGGCGGGGTTC 0.582000 51 68 0 0 0.003610 0 0 STRN3 29966 broad.mit.edu 37 14 31381349 31381349 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:31381349G>A ENST00000355683.5 - 9 1377 c.1162C>T c.(1162-1164)Ccc>Tcc p.P388S STRN3_ENST00000357479.5_Missense_Mutation_p.P472S|STRN3_ENST00000366206.2_5'UTR NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 398 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) GTATACTTGGGATTCCATGTC 0.423000 62 61 0 0 0.003610 0 0 ABHD6 57406 broad.mit.edu 37 3 58271172 58271172 + Missense_Mutation SNP C C A rs139332256 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:58271172C>A ENST00000478253.1 + 9 1330 c.829C>A c.(829-831)Caa>Aaa p.Q277K ABHD6_ENST00000295962.4_Missense_Mutation_p.Q277K Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 277 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) CTGGGGGAAACAAGACCAGGT 0.488000 25 41 1.74807e-11 3.65435e-11 0.002096 1 0 SAMD9L 219285 broad.mit.edu 37 7 92762117 92762117 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:92762117G>A ENST00000318238.4 - 5 4384 c.3168C>T c.(3166-3168)tcC>tcT p.S1056S SAMD9L_ENST00000437805.1_Silent_p.S1056S|SAMD9L_ENST00000411955.1_Silent_p.S1056S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1056 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CCATTAATGGGGAAAACAGAG 0.388000 14 37 0 0 0.004990 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30884430 30884430 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:30884430C>T ENST00000251071.5 - 6 1657 c.907G>A c.(907-909)Gat>Aat p.D303N CAPRIN2_ENST00000298892.5_Missense_Mutation_p.D303N|CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D303N|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.D303N|CAPRIN2_ENST00000308433.5_5'UTR NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 303 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GACAGTAGATCCTTCAAGTGT 0.348000 4 42 0 0 0.000248 0 0 SGSH 6448 broad.mit.edu 37 17 78184718 78184718 + Missense_Mutation SNP G G A rs146494740 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:78184718G>A ENST00000326317.6 - 8 1128 c.1042C>T c.(1042-1044)Ctc>Ttc p.L348F SGSH_ENST00000534910.1_Missense_Mutation_p.L145F NM_000199.3 NP_000190.1 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase 348 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCCGGCAGGAGGGACCGGCCA 0.647000 30 48 0 0 0.001786 0 0 SLC9A4 389015 broad.mit.edu 37 2 103149004 103149004 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:103149004C>T ENST00000295269.4 + 12 2711 c.2254C>T c.(2254-2256)Cat>Tat p.H752Y NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 752 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ACCTCTGTTTCATGCAGTGGA 0.532000 11 14 0 0 0.000978 0 0 HLCS 3141 broad.mit.edu 37 21 38132083 38132083 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:38132083G>A ENST00000399120.1 - 10 2970 c.1740C>T c.(1738-1740)atC>atT p.I580I HLCS_ENST00000336648.3_Silent_p.I580I NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 580 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) GAACTCCGCCGATCTTCATGA 0.373000 26 64 0 0 0.002096 0 0 DNAH8 1769 broad.mit.edu 37 6 38854674 38854674 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:38854674G>A ENST00000359357.3 + 55 7970 c.7716G>A c.(7714-7716)atG>atA p.M2572I DNAH8_ENST00000441566.1_Missense_Mutation_p.M2536I|DNAH8_ENST00000449981.2_Missense_Mutation_p.M2789I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TAGCAGCAATGATCCACCCTG 0.398000 32 35 0 0 0.002445 0 0 CDC20 991 broad.mit.edu 37 1 43825755 43825755 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:43825755C>T ENST00000372462.1 + 4 746 c.543C>T c.(541-543)atC>atT p.I181I CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Silent_p.I181I Q12834 CDC20_HUMAN cell division cycle 20 181 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CGCCTGAAATCCGAAATGACT 0.527000 68 164 0 0 0.003610 0 0 ANKRD1 27063 broad.mit.edu 37 10 92677521 92677521 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:92677521C>T ENST00000371697.3 - 5 768 c.520G>A c.(520-522)Gaa>Aaa p.E174K NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 174 cellular lipid metabolic process|defense response|signal transduction DNA binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) GCTCCAGCTTCCATTAACTTC 0.403000 12 33 0 0 0.002450 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088671 65088671 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:65088671C>T ENST00000544348.1 + 2 908 c.302C>T c.(301-303)tCc>tTc p.S101F CDC42EP2_ENST00000533419.1_Missense_Mutation_p.S101F|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.S101F O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 101 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 GACGGCCCATCCCCTCTGCTC 0.677000 10 40 0 0 0.000978 0 0 RGPD4 285190 broad.mit.edu 37 2 108488425 108488425 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:108488425C>T ENST00000408999.3 + 20 4042 c.3965C>T c.(3964-3966)tCt>tTt p.S1322F RGPD4_ENST00000354986.4_Missense_Mutation_p.S1322F NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1322 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GATGAAGAATCTGATGTTACT 0.398000 25 79 0 0 0.004878 0 0 DNAH5 1767 broad.mit.edu 37 5 13735333 13735333 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:13735333C>T ENST00000265104.4 - 68 11772 c.11668G>A c.(11668-11670)Gag>Aag p.E3890K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3890 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AATTTGTGCTCCTCGTACAGC 0.448000 Kartagener syndrome 8 22 0 0 0.003080 0 0 UBE2G1 7326 broad.mit.edu 37 17 4192609 4192609 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:4192609G>A ENST00000396981.2 - 4 507 c.342C>T c.(340-342)atC>atT p.I114I UBE2G1_ENST00000572484.1_Silent_p.I43I NM_003342.4 NP_003333.1 P62253 UB2G1_HUMAN ubiquitin-conjugating enzyme E2G 1 114 protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity large_intestine(2)|lung(4)|skin(1) 7 CCACAGTGTGGATAGGGAGCC 0.453000 5 80 0 0 0.000602 0 0 PATZ1 23598 broad.mit.edu 37 22 31740408 31740408 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:31740408C>T ENST00000266269.5 - 1 1810 c.1181G>A c.(1180-1182)aGa>aAa p.R394K PATZ1_ENST00000215919.3_Missense_Mutation_p.R394K|PATZ1_ENST00000351933.4_Missense_Mutation_p.R394K|PATZ1_ENST00000405309.3_Missense_Mutation_p.R394K NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 394 R -> K (in Ref. 1; AAF32518). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 GCGGTCTTTTCTCTTGAACCG 0.557000 33 59 0 0 0.002836 0 0 SPPL3 121665 broad.mit.edu 37 12 121205323 121205323 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:121205323G>A ENST00000353487.2 - 9 1350 c.847C>T c.(847-849)Ctt>Ttt p.L283F NM_139015.4 NP_620584.2 Q8TCT6 PSL4_HUMAN signal peptide peptidase like 3 284 integral to membrane aspartic-type endopeptidase activity all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCATAGCGAAGGACAAAGCAT 0.537000 17 28 0 0 0.006122 0 0 NRXN2 9379 broad.mit.edu 37 11 64421195 64421195 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:64421195C>T ENST00000265459.6 - 12 2851 c.e12-1 NRXN2_ENST00000409571.1_Splice_Site|NRXN2_ENST00000377551.1_Splice_Site|NRXN2_ENST00000377559.3_Intron|AP001092.4_ENST00000433606.1_RNA NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CGCAGGCAGTCTGGGGGGGCC 0.582000 4 15 0 0 0.000602 0 0 USP17L2 377630 broad.mit.edu 37 8 11994778 11994778 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:11994778C>T ENST00000333796.3 - 1 1808 c.1492G>A c.(1492-1494)Gag>Aag p.E498K FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 498 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 TTCACGGACTCCTGATCTGTC 0.512000 6 103 0 0 0.001168 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883626 228883626 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:228883626C>T ENST00000392056.3 - 7 1990 c.1944G>A c.(1942-1944)atG>atA p.M648I SPHKAP_ENST00000344657.5_Missense_Mutation_p.M648I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 648 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) AAGCAGTTTCCATGATTCTCC 0.468000 16 61 0 0 0.004007 0 0 TENM1 10178 broad.mit.edu 37 X 123699397 123699397 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:123699397C>T ENST00000422452.2 - 12 2154 c.2091G>A c.(2089-2091)atG>atA p.M697I TENM1_ENST00000371130.3_Missense_Mutation_p.M697I NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TACCACACTCCATGGTACACA 0.408000 5 1 0 0 0.000602 0 0 ANK2 287 broad.mit.edu 37 4 114276594 114276594 + Missense_Mutation SNP C C T rs140258681 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:114276594C>T ENST00000357077.4 + 38 6873 c.6820C>T c.(6820-6822)Cgt>Tgt p.R2274C ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2241C|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2241 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) CACAGAAATTCGTTCAGAAAA 0.478000 16 16 0 0 0.003163 0 0 DPPA5 340168 broad.mit.edu 37 6 74063871 74063871 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:74063871G>T ENST00000370370.3 - 1 147 c.78C>A c.(76-78)ttC>ttA p.F26L NM_001025290.2 NP_001020461.1 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 26 KH; atypical. multicellular organismal development cytoplasm RNA binding NS(1)|endometrium(1)|lung(5) 7 TCTGGACCTGGAACACCTCTG 0.602000 14 35 3.41278e-10 7.12187e-10 0.004990 1 0 TLR5 7100 broad.mit.edu 37 1 223285675 223285675 + Silent SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:223285675A>C ENST00000540964.1 - 4 1160 c.699T>G c.(697-699)gtT>gtG p.V233V TLR5_ENST00000342210.6_Silent_p.V233V O60602 TLR5_HUMAN toll-like receptor 5 233 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) CATTTCCAGAAACATCTAGTA 0.458000 64 57 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 8997151 8997151 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:8997151G>A ENST00000397910.4 - 60 41248 c.41045C>T c.(41044-41046)cCt>cTt p.P13682L MUC16_ENST00000380951.5_Missense_Mutation_p.P323L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13684 SEA 11. Missing (in Ref. 3; AAK74120). 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 AGAGTACAGAGGGCCAACACT 0.552000 16 45 0 0 0.001523 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724050 7724050 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:7724050G>A ENST00000303635.7 + 9 1650 c.1443G>A c.(1441-1443)atG>atA p.M481I CAMTA1_ENST00000439411.2_Missense_Mutation_p.M481I NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AAACCACCATGAACTTTGACC 0.592000 T WWTR1 epitheliod hemangioendothelioma 34 28 0 0 0.003271 0 0 PTH2R 5746 broad.mit.edu 37 2 209358047 209358047 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:209358047G>A ENST00000272847.2 + 13 1529 c.1316G>A c.(1315-1317)aGg>aAg p.R439K PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 439 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GACTGGAAAAGGACACCGCCA 0.587000 14 29 0 0 0.002450 0 0 RGS22 26166 broad.mit.edu 37 8 101075804 101075804 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:101075804C>T ENST00000360863.6 - 8 1386 c.1192G>A c.(1192-1194)Gcg>Acg p.A398T RGS22_ENST00000523287.1_Missense_Mutation_p.A217T|RGS22_ENST00000523437.1_Missense_Mutation_p.A386T NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 398 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CACCAGTCCGCCCTGCTCTCT 0.363000 25 68 0 0 0.005443 0 0 PARP14 54625 broad.mit.edu 37 3 122405958 122405958 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:122405958C>T ENST00000474629.2 + 3 619 c.353C>T c.(352-354)cCa>cTa p.P118L NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GTTAAAGAACCAGGTAAAATC 0.363000 5 11 0 0 0.000602 0 0 WNT3A 89780 broad.mit.edu 37 1 228238512 228238512 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:228238512G>A ENST00000284523.1 + 3 547 c.469G>A c.(469-471)Gag>Aag p.E157K WNT3A_ENST00000366753.2_Missense_Mutation_p.E157K NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 157 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) TGGCTGTAGCGAGGACATCGA 0.652000 44 29 0 0 0.003610 0 0 QTRT1 81890 broad.mit.edu 37 19 10823442 10823442 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:10823442C>T ENST00000250237.5 + 8 880 c.870C>T c.(868-870)ggC>ggT p.G290G NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 290 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) AGCGCTTTGGCTCTGCCCTGG 0.632000 49 72 0 0 0.003610 0 0 ITIH6 347365 broad.mit.edu 37 X 54783974 54783974 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:54783974G>A ENST00000218436.6 - 8 2562 c.2533C>T c.(2533-2535)Ctc>Ttc p.L845F NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 845 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity TTGGACAAGAGGATTCCAGGC 0.498000 31 17 0 0 0.002096 0 0 PAMR1 25891 broad.mit.edu 37 11 35463052 35463052 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:35463052C>T ENST00000378880.2 - 7 1455 c.1010G>A c.(1009-1011)gGg>gAg p.G337E PAMR1_ENST00000532848.1_Missense_Mutation_p.G297E|PAMR1_ENST00000278360.3_Missense_Mutation_p.G354E|PAMR1_ENST00000378878.3_Missense_Mutation_p.G226E NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 337 Sushi 1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 GGGCTGTTTCCCTGACCACTC 0.408000 22 85 0 0 0.001882 0 0 GPR32 2854 broad.mit.edu 37 19 51274318 51274318 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:51274318C>T ENST00000270590.4 + 1 598 c.461C>T c.(460-462)aCt>aTt p.T154I NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 154 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) AACCACCGCACTGTGCAGCGG 0.597000 39 54 0 0 0.005524 0 0 ZNF454 285676 broad.mit.edu 37 5 178392033 178392033 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:178392033C>T ENST00000320129.3 + 5 931 c.628C>T c.(628-630)Cat>Tat p.H210Y ZNF454_ENST00000519564.1_Missense_Mutation_p.H210Y NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TCAGAAAATTCATATTAAGGA 0.358000 22 30 0 0 0.001882 0 0 C3orf20 84077 broad.mit.edu 37 3 14801436 14801436 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:14801436G>A ENST00000253697.3 + 14 2735 c.2283G>A c.(2281-2283)ctG>ctA p.L761L C3orf20_ENST00000412910.1_Silent_p.L639L|C3orf20_ENST00000435614.1_Silent_p.L639L NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 761 cytoplasm|integral to membrane p.L761L(1)|p.D762Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AGTATGACCTGGACAGCCCCC 0.562000 13 62 0 0 0.002450 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458068 20458068 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:20458068G>A ENST00000426804.1 - 1 3718 c.3234C>T c.(3232-3234)ttC>ttT p.F1078F NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) AGAGTGTGTCGAAGGTGACGG 0.662000 5 29 0 0 0.000602 0 0 RBPMS 11030 broad.mit.edu 37 8 30332344 30332344 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:30332344A>G ENST00000320203.4 + 2 698 c.116A>G c.(115-117)gAg>gGg p.E39G RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000287771.5_Missense_Mutation_p.E39G|RBPMS_ENST00000397323.4_Missense_Mutation_p.E39G|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000517860.1_Missense_Mutation_p.E39G|RBPMS_ENST00000538486.1_Missense_Mutation_p.E39G|RBPMS_ENST00000339877.4_Missense_Mutation_p.E39G|RBPMS_ENST00000520191.1_5'UTR NM_006867.2 NP_006858.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 39 RRM. positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) AAACCTCGGGAGCTCTATCTG 0.403000 38 112 0 0 0.003610 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106830011 106830011 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:106830011C>T ENST00000390616.2 - 0 65 GAGGAAGAACCACAGGTGTTT 0.502000 8 36 0 0 0.004482 0 0 SLC26A2 1836 broad.mit.edu 37 5 149360048 149360048 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:149360048C>T ENST00000286298.4 + 3 1160 c.892C>T c.(892-894)Cat>Tat p.H298Y NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 298 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CAGAAACATCCATAAGACCAA 0.438000 24 43 0 0 0.003954 0 0 PLA2G12B 84647 broad.mit.edu 37 10 74714432 74714432 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:74714432G>A ENST00000373032.3 - 1 104 c.12C>T c.(10-12)gcC>gcT p.A4A NM_032562.2 NP_115951.2 Q9BX93 PG12B_HUMAN phospholipase A2, group XIIB 4 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 9 Prostate(51;0.0198) AGAAGCCACTGGCCAGCTTCA 0.602000 13 30 0 0 0.002450 0 0 TSPAN17 26262 broad.mit.edu 37 5 176078761 176078761 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:176078761C>T ENST00000405525.2 + 3 374 c.145C>T c.(145-147)Ctc>Ttc p.L49F TSPAN17_ENST00000508164.1_Missense_Mutation_p.L49F|TSPAN17_ENST00000503045.1_Missense_Mutation_p.L49F|TSPAN17_ENST00000515708.1_Missense_Mutation_p.L49F|TSPAN17_ENST00000310032.8_Missense_Mutation_p.L49F|TSPAN17_ENST00000298564.10_Intron NM_001006616.2 NP_001006617.2 Q96FV3 TSN17_HUMAN tetraspanin 17 49 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAGGGCGTTCTCTCGAACAT 0.632000 33 42 0 0 0.004878 0 0 CLCN1 1180 broad.mit.edu 37 7 143048913 143048913 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:143048913C>T ENST00000343257.2 + 23 2909 c.2822C>T c.(2821-2823)tCc>tTc p.S941F NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 941 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) CCCCCTCTCTCCCTGGCCCCA 0.657000 18 33 0 0 0.004990 0 0 C1orf101 257044 broad.mit.edu 37 1 244736006 244736006 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:244736006C>T ENST00000366534.4 + 11 1936 c.1882C>T c.(1882-1884)Cca>Tca p.P628S C1orf101_ENST00000366531.3_Missense_Mutation_p.P477S|C1orf101_ENST00000366533.4_Missense_Mutation_p.P628S|C1orf101_ENST00000473875.1_3'UTR NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 628 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) ATCTTATGGCCCAAAAATATT 0.368000 37 34 0 0 0.001485 0 0 GHDC 84514 broad.mit.edu 37 17 40344262 40344262 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:40344262C>T ENST00000301671.8 - 4 1327 c.886G>A c.(886-888)Gga>Aga p.G296R GHDC_ENST00000414034.3_Missense_Mutation_p.G296R|GHDC_ENST00000436923.2_Missense_Mutation_p.G296R|GHDC_ENST00000593209.1_Missense_Mutation_p.G296R|GHDC_ENST00000428494.2_Missense_Mutation_p.G257R|GHDC_ENST00000587427.1_Missense_Mutation_p.G296R Q8N2G8 GHDC_HUMAN GH3 domain containing 296 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CACTGACCTCCCGAGGCAGCA 0.587000 12 119 0 0 0.001855 0 0 MYF6 4618 broad.mit.edu 37 12 81101868 81101868 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:81101868C>T ENST00000228641.3 + 1 592 c.370C>T c.(370-372)Ccc>Tcc p.P124S NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 124 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 TGTGGCCAACCCCAACCAGAG 0.607000 17 31 0 0 0.001216 0 0 TMEM205 374882 broad.mit.edu 37 19 11453514 11453514 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:11453514C>T ENST00000354882.5 - 3 973 c.547G>A c.(547-549)Gcc>Acc p.A183T TMEM205_ENST00000586218.1_Missense_Mutation_p.A122T|TMEM205_ENST00000588560.1_Missense_Mutation_p.A183T|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000586590.1_Missense_Mutation_p.A183T|TMEM205_ENST00000587948.1_Missense_Mutation_p.A183T|TMEM205_ENST00000593256.2_Missense_Mutation_p.A183T|TMEM205_ENST00000589555.1_Missense_Mutation_p.A183T|TMEM205_ENST00000447337.1_Missense_Mutation_p.A183T|TMEM205_ENST00000586956.1_Missense_Mutation_p.A183T Q6UW68 TM205_HUMAN transmembrane protein 205 183 integral to membrane endometrium(1)|lung(1) 2 ATTTCCAGGGCAAGGCCAGCG 0.527000 22 130 0 0 0.003954 0 0 MARS 4141 broad.mit.edu 37 12 57894287 57894287 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:57894287C>T ENST00000262027.5 + 10 1409 c.1275C>T c.(1273-1275)atC>atT p.I425I MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.I191I NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 425 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) GCAAGCTCATCAATGCTGTCG 0.562000 8 33 0 0 0.004482 0 0 CA2 760 broad.mit.edu 37 8 86385958 86385958 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:86385958T>C ENST00000285379.5 + 3 499 c.269T>C c.(268-270)tTg>tCg p.L90S NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 90 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) ACTTACAGATTGATTCAGTTT 0.338000 17 34 0 0 0.001216 0 0 DSEL 92126 broad.mit.edu 37 18 65180090 65180090 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:65180090G>A ENST00000310045.7 - 2 3259 c.1786C>T c.(1786-1788)Cat>Tat p.H596Y CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 586 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CTCTCAATATGATCAACAACT 0.358000 17 31 0 0 0.004990 0 0 ADAM18 8749 broad.mit.edu 37 8 39525702 39525702 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:39525702G>A ENST00000265707.5 + 14 1557 c.1512G>A c.(1510-1512)aaG>aaA p.K504K ADAM18_ENST00000379866.1_Silent_p.K480K|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 504 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AGTGTGCCAAGATATTTGGAA 0.388000 15 52 0 0 0.003163 0 0 ARMC5 79798 broad.mit.edu 37 16 31471177 31471177 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:31471177C>T ENST00000457010.2 + 1 1033 c.332C>T c.(331-333)cCc>cTc p.P111L ARMC5_ENST00000538189.1_Missense_Mutation_p.P143L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P111L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P206L|ARMC5_ENST00000563544.1_Missense_Mutation_p.P111L NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 111 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ggccccgcccccTCCGCTGTG 0.741000 3 7 0 0 0.004672 0 0 PRKCA 5578 broad.mit.edu 37 17 64734896 64734896 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:64734896C>T ENST00000413366.3 + 11 1271 c.1245C>T c.(1243-1245)ttC>ttT p.F415F NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 415 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GGCTGTACTTCGTCATGGAAT 0.463000 39 56 0 0 0.003610 0 0 KMT2B 9757 broad.mit.edu 37 19 36212370 36212370 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:36212370C>T ENST00000341701.1 + 4 1688 c.1688C>T c.(1687-1689)tCg>tTg p.S563L WBP7_ENST00000420124.1_Silent_p.F707F|WBP7_ENST00000222270.7_Silent_p.F707F|KMT2B_ENST00000607650.1_RNA TGCCTCGATTCGCCCCTGTGG 0.662000 6 19 0 0 0.001168 0 0 FCGBP 8857 broad.mit.edu 37 19 40368805 40368805 + Silent SNP C C T rs140207614 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:40368805C>T ENST00000221347.6 - 28 12550 c.12543G>A c.(12541-12543)tcG>tcA p.S4181S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4181 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCAGTGCCTTCGATGCACCCT 0.622000 50 185 0 0 0.003610 0 0 GLTPD2 388323 broad.mit.edu 37 17 4692404 4692404 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:4692404G>A ENST00000331264.7 + 1 151 c.98G>A c.(97-99)cGg>cAg p.R33Q NM_001014985.2 NP_001014985.2 glycolipid transfer protein domain containing 2 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 4 CTCAGTGTTCGGAGCCTAGGT 0.642000 9 3 0 0 0.000673 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17697618 17697618 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:17697618G>A ENST00000399080.2 - 1 2088 c.2065C>T c.(2065-2067)Ccc>Tcc p.P689S NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 689 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ATTAAAAGGGGAATTTTTTCA 0.294000 29 42 0 0 0.001512 0 0 ABCA9 10350 broad.mit.edu 37 17 66981089 66981089 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:66981089G>T ENST00000340001.4 - 34 4527 c.4316C>A c.(4315-4317)cCg>cAg p.P1439Q ABCA9_ENST00000370732.2_Intron|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1401Q NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1439 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity p.P1439Q(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CACCACTGACGGGTTCCCCAG 0.592000 5 91 0.00116845 0.00241915 0.001168 1 0 PTCH2 8643 broad.mit.edu 37 1 45296630 45296630 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:45296630G>A ENST00000447098.2 - 6 714 c.703C>T c.(703-705)Cgg>Tgg p.R235W PTCH2_ENST00000372192.3_Missense_Mutation_p.R235W NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 235 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AGCAGCTCCCGGAAGCCCTCA 0.647000 Basal Cell Nevus syndrome 20 22 0 0 0.001882 0 0 KDM5B 10765 broad.mit.edu 37 1 202719899 202719899 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:202719899C>T ENST00000367265.3 - 13 2873 c.1709G>A c.(1708-1710)cGa>cAa p.R570Q KDM5B_ENST00000367264.2_Missense_Mutation_p.R606Q NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 570 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CTGATTAGTTCGGTAAACCTA 0.363000 57 72 0 0 0.003610 0 0 SERF2 10169 broad.mit.edu 37 15 44092743 44092743 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:44092743C>T ENST00000594896.1 + 3 200 c.85C>T c.(85-87)Cct>Tct p.P29S SERF2_ENST00000600633.1_5'UTR|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000442995.2_5'UTR|HYPK_ENST00000406925.1_5'UTR P84101 SERF2_HUMAN small EDRK-rich factor 2 0 cytosol|nucleus lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) AGCCCCGCCTCCTCCCCGGGC 0.612000 6 6 0 0 0.001168 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238671681 238671681 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:238671681C>T ENST00000244815.5 + 10 1493 c.1253C>T c.(1252-1254)cCt>cTt p.P418L LRRFIP1_ENST00000289175.6_Missense_Mutation_p.P386L|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.P442L|LRRFIP1_ENST00000308482.9_Intron NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 442 N -> S (in dbSNP:rs2001301). negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) GCCTCGTGTCCTTTAGGGCAT 0.483000 17 72 0 0 0.001523 0 0 SLC2A14 144195 broad.mit.edu 37 12 7973829 7973829 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:7973829G>A ENST00000543909.1 - 13 1785 c.1026C>T c.(1024-1026)ttC>ttT p.F342F SLC2A14_ENST00000535295.1_Silent_p.F233F|SLC2A14_ENST00000431042.2_Silent_p.F319F|SLC2A14_ENST00000340749.5_Silent_p.F319F|SLC2A14_ENST00000542546.1_Silent_p.F233F|SLC2A14_ENST00000396589.2_Silent_p.F342F|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000539924.1_Silent_p.F357F Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 342 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) AAAGTAAAGTGAAGATAGTAT 0.428000 42 82 0 0 0.002852 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52002945 52002945 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:52002945G>A ENST00000291707.3 - 3 889 c.834C>T c.(832-834)tcC>tcT p.S278S SIGLEC12_ENST00000598614.1_Silent_p.S160S NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 278 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCCCCGGGATGGAGAAGGTGG 0.632000 30 38 0 0 0.004289 0 0 CDH12 1010 broad.mit.edu 37 5 21802340 21802340 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:21802340G>A ENST00000382254.1 - 10 2278 c.1192C>T c.(1192-1194)Ccg>Tcg p.P398S CDH12_ENST00000522262.1_Missense_Mutation_p.P358S|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.P398S NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 398 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GTCCCTACCGGAGTGTCTTCA 0.483000 HNSCC(59;0.17) 7 27 0 0 0.004482 0 0 POGZ 23126 broad.mit.edu 37 1 151400343 151400343 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:151400343G>A ENST00000271715.2 - 7 1348 c.1034C>T c.(1033-1035)gCt>gTt p.A345V POGZ_ENST00000531094.1_Missense_Mutation_p.A283V|POGZ_ENST00000491586.1_Missense_Mutation_p.A292V|POGZ_ENST00000409503.1_Missense_Mutation_p.A336V|POGZ_ENST00000392723.1_Missense_Mutation_p.A292V|POGZ_ENST00000368863.2_Missense_Mutation_p.A250V|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000361398.3_Missense_Mutation_p.A292V NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 345 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AGAGCCATGAGCAGAGCTGTT 0.468000 11 23 0 0 0.000978 0 0 SENP1 29843 broad.mit.edu 37 12 48477454 48477454 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:48477454G>A ENST00000004980.5 - 6 950 c.472C>T c.(472-474)Cca>Tca p.P158S SENP1_ENST00000551330.1_Missense_Mutation_p.P158S|SENP1_ENST00000549518.1_Missense_Mutation_p.P158S|SENP1_ENST00000448372.1_Missense_Mutation_p.P158S|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549595.1_Missense_Mutation_p.P158S|SENP1_ENST00000547886.1_5'UTR Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 158 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) CTCCAAGATGGACTTGGAACA 0.403000 37 43 0 0 0.004878 0 0 MTMR7 9108 broad.mit.edu 37 8 17188682 17188682 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:17188682T>C ENST00000180173.5 - 7 876 c.842A>G c.(841-843)aAc>aGc p.N281S MTMR7_ENST00000521857.1_Missense_Mutation_p.N281S NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 281 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CTGCAGACTGTTCCTCATGAC 0.378000 20 45 0 0 0.002780 0 0 WNT7A 7476 broad.mit.edu 37 3 13896123 13896123 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:13896123C>T ENST00000285018.4 - 3 780 c.476G>A c.(475-477)gGc>gAc p.G159D NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 159 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 GAAGCCGATGCCGTAGCGGAT 0.602000 49 99 0 0 0.003610 0 0 FREM1 158326 broad.mit.edu 37 9 14770702 14770702 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:14770702G>A ENST00000380881.4 - 27 5778 c.4963C>T c.(4963-4965)Cgc>Tgc p.R1655C FREM1_ENST00000380894.1_Missense_Mutation_p.R190C|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Missense_Mutation_p.R1654C|FREM1_ENST00000380880.3_Missense_Mutation_p.R1654C Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1654 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.R67S(1)|p.R1655S(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTCAACACGCGGGAAGTGATG 0.473000 12 5 0 0 0.003163 0 0 GPR174 84636 broad.mit.edu 37 X 78427485 78427485 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:78427485C>T ENST00000276077.1 + 1 1017 c.981C>T c.(979-981)acC>acT p.T327T NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 327 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 CAGCTTCCACCATGACACCTG 0.408000 HNSCC(63;0.18) 12 8 0 0 0.001368 0 0 HPN 3249 broad.mit.edu 37 19 35551364 35551364 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:35551364G>A ENST00000262626.2 + 8 1393 c.568G>A c.(568-570)Gga>Aga p.G190R HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Missense_Mutation_p.G190R NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 190 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) CCTCTGTGGGGGATCCCTGCT 0.677000 15 66 0 0 0.001523 0 0 ZNF382 84911 broad.mit.edu 37 19 37118051 37118051 + Missense_Mutation SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:37118051A>C ENST00000435416.1 + 3 2744 c.1249A>C c.(1249-1251)Atc>Ctc p.I417L ZNF382_ENST00000423582.1_Missense_Mutation_p.I369L|ZNF382_ENST00000439428.1_Missense_Mutation_p.I417L|ZNF382_ENST00000292928.2_Missense_Mutation_p.I418L Q96SR6 ZN382_HUMAN zinc finger protein 382 418 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (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) GAAGGCATTTATCCAGAAGAC 0.448000 22 37 0 0 0.004656 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98416563 98416563 + Missense_Mutation SNP G G A rs148582013 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:98416563G>A ENST00000339364.5 - 3 678 c.559C>T c.(559-561)Cgc>Tgc p.R187C PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R9C NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 187 DBB. cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ACCCCACAGCGAATGCGGTCC 0.547000 30 53 0 0 0.002836 0 0 LILRA4 23547 broad.mit.edu 37 19 54849227 54849227 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54849227G>A ENST00000291759.4 - 4 691 c.635C>T c.(634-636)cCc>cTc p.P212L NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 212 Ig-like C2-type 2. integral to membrane receptor activity p.P212L(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TAGCTGCAGGGGGTCACTGGG 0.567000 16 24 0 0 0.006122 0 0 ABCA10 10349 broad.mit.edu 37 17 67152008 67152008 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:67152008C>T ENST00000269081.4 - 30 4423 c.3514G>A c.(3514-3516)Gaa>Aaa p.E1172K ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1172 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TGAACATCTTCATCTTCTTCT 0.428000 60 75 0 0 0.003610 0 0 PCSK4 54760 broad.mit.edu 37 19 1487857 1487857 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:1487857G>A ENST00000300954.5 - 5 581 c.520C>T c.(520-522)Ccc>Tcc p.P174S PCSK4_ENST00000587784.1_5'UTR NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 174 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGCCAGGGGGTCCTGGGGG 0.701000 6 8 0 0 0.001168 0 0 FILIP1 27145 broad.mit.edu 37 6 76022573 76022573 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:76022573G>A ENST00000393004.2 - 5 3196 c.2975C>T c.(2974-2976)cCa>cTa p.P992L FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.P992L|FILIP1_ENST00000370020.1_Missense_Mutation_p.P893L Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 992 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCCACTTTCTGGAGTCTTCTC 0.473000 18 63 0 0 0.001523 0 0 SLC12A5 57468 broad.mit.edu 37 20 44678403 44678403 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:44678403C>T ENST00000454036.1 + 17 2300 c.2224C>T c.(2224-2226)Cat>Tat p.H742Y SLC12A5_ENST00000243964.3_Missense_Mutation_p.H719Y NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 742 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCTGGAAAATCATCCACAGGC 0.577000 6 9 0 0 0.001984 0 0 KRT72 140807 broad.mit.edu 37 12 52992684 52992684 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:52992684C>T ENST00000293745.2 - 2 724 c.639G>A c.(637-639)aaG>aaA p.K213K KRT72_ENST00000537672.2_Silent_p.K213K|KRT72_ENST00000398066.3_Silent_p.K25K|KRT72_ENST00000354310.4_Silent_p.K213K NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 213 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TCACTCACCTCTTCTTGTAGT 0.512000 22 69 0 0 0.002780 0 0 SULF1 23213 broad.mit.edu 37 8 70570767 70570767 + Silent SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:70570767T>G ENST00000260128.4 + 23 3330 c.2613T>G c.(2611-2613)ggT>ggG p.G871G SULF1_ENST00000419716.3_Silent_p.G871G|SULF1_ENST00000458141.2_Silent_p.G871G|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.G871G NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 871 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GATGGGAAGGTTAATCAGCCC 0.438000 21 41 0 0 0.003954 0 0 ETHE1 23474 broad.mit.edu 37 19 44015618 44015618 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:44015618C>T ENST00000600651.1 - 4 499 c.476G>A c.(475-477)cGt>cAt p.R159H ETHE1_ENST00000292147.2_Missense_Mutation_p.R159H O95571 ETHE1_HUMAN ethylmalonic encephalopathy 1 159 mitochondrial matrix|nucleus hydrolase activity|metal ion binding central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 5 Prostate(69;0.0153) CCCACACCCACGGATCAACAG 0.552000 8 50 0 0 0.000673 0 0 SLC17A6 57084 broad.mit.edu 37 11 22382448 22382448 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:22382448G>A ENST00000263160.3 + 5 1016 c.579G>A c.(577-579)gtG>gtA p.V193V NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 193 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 CACAGGGTGTGACCTACCCAG 0.493000 11 25 0 0 0.002450 0 0 SERPINA5 5104 broad.mit.edu 37 14 95054004 95054004 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:95054004G>A ENST00000329597.7 + 3 515 c.305G>A c.(304-306)aGc>aAc p.S102N SERPINA5_ENST00000554866.1_Missense_Mutation_p.S102N|SERPINA5_ENST00000554276.1_Missense_Mutation_p.S102N|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S102N NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 102 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CTCCAGAAAAGCTCAGAGAAG 0.592000 4 23 0 0 0.000248 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52991715 52991715 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:52991715G>T ENST00000371544.3 - 2 500 c.238C>A c.(238-240)Ctt>Att p.L80I ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L80I|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.L80I NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 80 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GGACCTGGAAGGTTGGCAGCA 0.348000 70 145 2.67039e-37 5.63221e-37 0.003610 1 0 PLEKHH1 57475 broad.mit.edu 37 14 68044784 68044784 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:68044784G>A ENST00000329153.5 + 19 2751 c.2619G>A c.(2617-2619)gtG>gtA p.V873V NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 873 MyTH4. cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CTGCCTCGGTGGACTACCATG 0.602000 11 48 0 0 0.000673 0 0 OR5K4 403278 broad.mit.edu 37 3 98072952 98072952 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:98072952C>T ENST00000354924.2 + 1 255 c.255C>T c.(253-255)ttC>ttT p.F85F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 TAGAGAATTTCTTTTCTGAGG 0.433000 76 144 0 0 0.003610 0 0 CYP2E1 1571 broad.mit.edu 37 10 135350649 135350649 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:135350649G>A ENST00000463117.2 + 9 1322 c.1050G>A c.(1048-1050)atG>atA p.M350I SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.M350I P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 350 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) TGCCCTACATGGATGCTGTGG 0.522000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 13 45 0 0 0.001368 0 0 ME1 4199 broad.mit.edu 37 6 83947495 83947495 + Missense_Mutation SNP G G A rs142932433 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:83947495G>A ENST00000369705.3 - 9 1083 c.967C>T c.(967-969)Cca>Tca p.P323S ME1_ENST00000543031.1_Missense_Mutation_p.P248S|ME1_ENST00000541327.1_Missense_Mutation_p.P157S NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 323 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TTCTCTTTTGGTAAACCTTCT 0.338000 13 20 0 0 0.006122 0 0 FMNL1 752 broad.mit.edu 37 17 43323944 43323944 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:43323944G>A ENST00000331495.3 + 26 3620 c.3284G>A c.(3283-3285)gGa>gAa p.G1095E CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_Intron|FMNL1_ENST00000328118.3_Intron NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 1095 actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 GCCAGCCTGGGAGAAGAGATG 0.657000 OREG0024478 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 27 0 0 0.002450 0 0 GPR98 84059 broad.mit.edu 37 5 90106233 90106233 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:90106233G>A ENST00000405460.2 + 74 15252 c.15156G>A c.(15154-15156)ctG>ctA p.L5052L GPR98_ENST00000425867.2_Silent_p.L713L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5052 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) CCAAGCCACTGGAAGATTTTG 0.373000 14 24 0 0 0.002450 0 0 AHRR 57491 broad.mit.edu 37 5 423970 423970 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:423970C>T ENST00000316418.5 + 7 642 c.598C>T c.(598-600)Ctg>Ttg p.L200L AHRR_ENST00000512529.1_Silent_p.L46L|AHRR_ENST00000506456.1_Silent_p.L56L|AHRR_ENST00000505113.1_Silent_p.L200L NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TGATGCTATCCTGGGGAGGCT 0.652000 8 29 0 0 0.003080 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704104 56704104 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:56704104C>T ENST00000586855.2 - 2 631 c.318G>A c.(316-318)gtG>gtA p.V106V ZSCAN5B_ENST00000358992.3_Silent_p.V106V A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 106 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GCACACCGTTCACCTTGACTA 0.547000 18 44 0 0 0.003330 0 0 ABI3 51225 broad.mit.edu 37 17 47300000 47300000 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:47300000T>A ENST00000225941.1 + 8 1522 c.1024T>A c.(1024-1026)Tcc>Acc p.S342T ABI3_ENST00000419580.2_Missense_Mutation_p.S336T NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 342 SH3. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) TCGCCGCTACTCCGATGGCTG 0.602000 HNSCC(55;0.14) 8 8 0 0 0.003080 0 0 XIST 7503 broad.mit.edu 37 X 73066284 73066284 + RNA SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:73066284A>G ENST00000429829.1 - 0 6304 NR_001564.2 AGACGATTATAATCACACACA 0.488000 17 8 0 0 0.006122 0 0 ZNF423 23090 broad.mit.edu 37 16 49671166 49671166 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:49671166G>A ENST00000561648.1 - 4 1950 c.1897C>T c.(1897-1899)Cct>Tct p.P633S ZNF423_ENST00000562871.1_Missense_Mutation_p.P573S|ZNF423_ENST00000563137.2_Missense_Mutation_p.P573S|ZNF423_ENST00000262383.2_Missense_Mutation_p.P633S|ZNF423_ENST00000562520.1_Missense_Mutation_p.P573S|ZNF423_ENST00000567169.1_Missense_Mutation_p.P516S|ZNF423_ENST00000535559.1_Missense_Mutation_p.P516S NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 633 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGATTGCAAGGATACTCCCCA 0.597000 23 50 0 0 0.004656 0 0 ABCA8 10351 broad.mit.edu 37 17 66871424 66871424 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:66871424G>A ENST00000269080.2 - 35 4625 c.4488C>T c.(4486-4488)ttC>ttT p.F1496F ABCA8_ENST00000430352.2_Silent_p.F1536F|ABCA8_ENST00000586539.1_Silent_p.F1536F NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1496 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CAGCCTGGGGGAAAAGCCTCA 0.463000 32 53 0 0 0.003271 0 0 ABCA4 24 broad.mit.edu 37 1 94526256 94526256 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:94526256G>A ENST00000370225.3 - 14 2083 c.1997C>T c.(1996-1998)tCt>tTt p.S666F ABCA4_ENST00000535735.1_Missense_Mutation_p.S666F NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 666 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CATGGAGACAGAGTAGATCCA 0.463000 9 30 0 0 0.004482 0 0 SMARCC1 6599 broad.mit.edu 37 3 47727614 47727614 + Missense_Mutation SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:47727614A>C ENST00000254480.5 - 14 1429 c.1310T>G c.(1309-1311)cTt>cGt p.L437R SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 437 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) ATCTTCCCCAAGGTCAACTGA 0.388000 19 48 0 0 0.001216 0 0 MUC16 94025 broad.mit.edu 37 19 9069682 9069682 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9069682C>T ENST00000397910.4 - 3 17967 c.17764G>A c.(17764-17766)Gaa>Aaa p.E5922K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5924 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 CTGGTTTCTTCCACAGAGGGA 0.493000 12 50 0 0 0.000978 0 0 EXO5 64789 broad.mit.edu 37 1 40980727 40980727 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:40980727G>A ENST00000372703.1 + 2 1585 c.511G>A c.(511-513)Gaa>Aaa p.E171K EXO5_ENST00000296380.4_Missense_Mutation_p.E171K|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.E171K exonuclease 5 AGTGTTTGGGGAAGGGGAGGG 0.498000 53 104 0 0 0.003610 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140746159 140746159 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140746159C>T ENST00000518069.1 + 1 2262 c.2262C>T c.(2260-2262)tcC>tcT p.S754S PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACCTATTCCCACGAGGTCT 0.597000 20 94 0 0 0.001216 0 0 ANKRD27 84079 broad.mit.edu 37 19 33119042 33119042 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:33119042G>A ENST00000306065.4 - 15 1525 c.1367C>T c.(1366-1368)cCa>cTa p.P456L NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 456 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) TCTGGAGAATGGAGTGACAAC 0.537000 16 77 0 0 0.006122 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459540 107459540 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:107459540G>A ENST00000409382.3 - 2 1504 c.894C>T c.(892-894)gtC>gtT p.V298V ST6GAL2_ENST00000409087.3_Silent_p.V298V|ST6GAL2_ENST00000361686.4_Silent_p.V298V NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 298 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CAGACATGACGACAGCGCAGC 0.687000 9 14 0 0 0.001368 0 0 TYRO3 7301 broad.mit.edu 37 15 41854852 41854852 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:41854852C>T ENST00000263798.3 + 4 740 c.516C>T c.(514-516)gtC>gtT p.V172V TYRO3_ENST00000559066.1_Silent_p.V127V NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 172 Ig-like C2-type 2. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) TTACCATTGTCTGGTGGAGAG 0.542000 17 22 0 0 0.006122 0 0 RASSF4 83937 broad.mit.edu 37 10 45487389 45487389 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:45487389G>A ENST00000334940.6 + 10 1005 c.871G>A c.(871-873)Gac>Aac p.D291N RASSF4_ENST00000340258.4_Missense_Mutation_p.D282N|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_3'UTR Q9H2L5 RASF4_HUMAN Ras association (RalGDS/AF-6) domain family member 4 282 SARAH. cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 GCCGGTGCTGGACAGTTTTGT 0.358000 22 74 0 0 0.005443 0 0 VLDLR 7436 broad.mit.edu 37 9 2647525 2647525 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:2647525A>G ENST00000382100.2 + 12 2111 c.1755A>G c.(1753-1755)ggA>ggG p.G585G VLDLR_ENST00000478776.1_3'UTR|VLDLR_ENST00000382099.2_Silent_p.G585G NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 585 cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) AAAAAGCAGGAATGAATGGAT 0.423000 12 13 0 0 0.001368 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525628 176525628 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:176525628G>A ENST00000367662.3 + 2 1334 c.170G>A c.(169-171)cGa>cAa p.R57Q PAPPA2_ENST00000367661.3_Missense_Mutation_p.R57Q NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 57 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCCAAGGTTCGAAGACCCAGA 0.562000 108 70 0 0 0.003610 0 0 IL1R1 3554 broad.mit.edu 37 2 102791180 102791180 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:102791180C>T ENST00000410023.1 + 10 1443 c.1125C>T c.(1123-1125)ctC>ctT p.L375L AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Silent_p.L375L|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Silent_p.L375L|IL1R1_ENST00000409288.1_Silent_p.L375L|IL1R1_ENST00000424272.1_Silent_p.L375L|IL1R1_ENST00000409929.1_Silent_p.L375L P14778 IL1R1_HUMAN interleukin 1 receptor, type I 375 innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) ATGATTTTCTCCCAATAAAAG 0.348000 22 45 0 0 0.003330 0 0 AGXT2 64902 broad.mit.edu 37 5 34998865 34998865 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:34998865G>A ENST00000231420.6 - 14 1704 c.1504C>T c.(1504-1506)Cgt>Tgt p.R502C NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 502 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) AAGGCAGAACGAAATACTTCT 0.378000 7 41 0 0 0.001984 0 0 PTPN13 5783 broad.mit.edu 37 4 87694091 87694091 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:87694091C>T ENST00000436978.1 + 32 5824 c.5344C>T c.(5344-5346)Cac>Tac p.H1782Y PTPN13_ENST00000427191.2_Missense_Mutation_p.H1758Y|PTPN13_ENST00000316707.6_Missense_Mutation_p.H1586Y|PTPN13_ENST00000511467.1_Missense_Mutation_p.H1782Y|PTPN13_ENST00000411767.2_Missense_Mutation_p.H1777Y NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1777 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CTTGGAAAATCACCTTGAAGA 0.318000 16 9 0 0 0.003163 0 0 PTPN14 5784 broad.mit.edu 37 1 214576224 214576224 + Splice_Site SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:214576224A>G ENST00000366956.5 - 6 776 c.e6+1 PTPN14_ENST00000543945.1_Splice_Site NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGCCTGCCTTACCTGTGGGCT 0.537000 97 88 0 0 0.003610 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6093507 6093507 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:6093507G>A ENST00000400104.3 - 15 1420 c.1220C>T c.(1219-1221)tCa>tTa p.S407L L3MBTL4_ENST00000400105.2_Missense_Mutation_p.S407L|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.S407L|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.S220L|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.S407L Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 407 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GTTCATGTCTGAATACGGGCA 0.393000 27 20 0 0 0.001061 0 0 UBAP2L 9898 broad.mit.edu 37 1 154209586 154209586 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:154209586G>A ENST00000428931.1 + 8 844 c.677G>A c.(676-678)gGc>gAc p.G226D UBAP2L_ENST00000343815.6_Missense_Mutation_p.G226D|UBAP2L_ENST00000271877.7_Missense_Mutation_p.G237D|UBAP2L_ENST00000361546.2_Missense_Mutation_p.G226D NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 226 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AACAACACTGGCCACTTTGAA 0.393000 21 82 0 0 0.001523 0 0 KCNK13 56659 broad.mit.edu 37 14 90651153 90651153 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:90651153G>A ENST00000282146.4 + 2 1474 c.1033G>A c.(1033-1035)Gag>Aag p.E345K NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 345 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) GCTCTCAGGGGAGATGATCTC 0.617000 26 59 0 0 0.001786 0 0 ETV2 2116 broad.mit.edu 37 19 36134494 36134494 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:36134494C>T ENST00000379026.2 + 4 1077 c.638C>T c.(637-639)cCc>cTc p.P213L ETV2_ENST00000379023.4_Intron|ETV2_ENST00000402764.2_Missense_Mutation_p.P185L|ETV2_ENST00000403402.1_Missense_Mutation_p.P185L|ETV2_ENST00000479824.1_Missense_Mutation_p.P92L B9EIN1 B9EIN1_HUMAN ets variant 2 185 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2) 2 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) Tggggcgggcccgcgggcccg 0.682000 3 4 0 0 0.004672 0 0 HMG20A 10363 broad.mit.edu 37 15 77756592 77756592 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:77756592C>T ENST00000381714.3 + 4 528 c.100C>T c.(100-102)Cca>Tca p.P34S HMG20A_ENST00000336216.4_Missense_Mutation_p.P34S NM_018200.2 NP_060670.1 Q9NP66 HM20A_HUMAN high mobility group 20A 34 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 GTTAAATCACCCAGAGGTTCC 0.423000 4 40 0 0 0.000602 0 0 KLHDC10 23008 broad.mit.edu 37 7 129710498 129710498 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:129710498G>A ENST00000335420.5 + 1 149 c.15G>A c.(13-15)caG>caA p.Q5Q NM_014997.3 NP_055812.1 Q6PID8 KLD10_HUMAN kelch domain containing 10 5 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 CGGCCGCCCAgggctgggaca 0.761000 4 9 0 0 0.001168 0 0 C1orf200 644997 broad.mit.edu 37 1 9714409 9714409 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:9714409G>A ENST00000377320.3 - 1 235 c.86C>T c.(85-87)tCg>tTg p.S29L PIK3CD_ENST00000377346.4_Intron|PIK3CD_ENST00000536656.1_Intron chromosome 1 open reading frame 200 endometrium(1)|large_intestine(2)|lung(5)|pancreas(1) 9 all_lung(157;0.222) Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) TTTCTCCTCCGATACCATGTT 0.597000 20 29 0 0 0.002299 0 0 RAET1K 646024 broad.mit.edu 37 6 150322188 150322188 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:150322188G>A ENST00000533735.1 - 0 688 NR_024045.1 GTCCATTGAAGAGGAACTGCC 0.502000 17 19 0 0 0.006122 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25258337 25258337 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:25258337G>A ENST00000328086.7 - 5 1983 c.1180C>T c.(1180-1182)Cga>Tga p.R394* NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 394 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R394*(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) AACTTGGTTCGACACTGTTCT 0.473000 68 103 0 0 0.003610 0 0 FBLN2 2199 broad.mit.edu 37 3 13659748 13659748 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:13659748C>T ENST00000404922.3 + 6 2021 c.1902C>T c.(1900-1902)ggC>ggT p.G634G FBLN2_ENST00000535798.1_Silent_p.G660G|FBLN2_ENST00000295760.7_Silent_p.G634G|FBLN2_ENST00000492059.1_Silent_p.G634G NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 634 EGF-like 1; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GCTTTCCTGGCTTCTCACTGC 0.622000 21 50 0 0 0.001882 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1779566 1779566 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:1779566C>T ENST00000250894.4 + 4 746 c.589C>T c.(589-591)Ctg>Ttg p.L197L MAPK8IP3_ENST00000356010.5_Silent_p.L197L NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 197 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CGAGAGCAGCCTGCcggggcg 0.682000 6 13 0 0 0.001984 0 0 CSMD3 114788 broad.mit.edu 37 8 113697886 113697886 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:113697886T>A ENST00000297405.5 - 15 2475 c.2231A>T c.(2230-2232)aAt>aTt p.N744I CSMD3_ENST00000352409.3_Missense_Mutation_p.N744I|CSMD3_ENST00000455883.2_Missense_Mutation_p.N640I|CSMD3_ENST00000343508.3_Missense_Mutation_p.N704I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 744 CUB 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 GCAATTTAAATTATTTCCATA 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 75 0 0 0.000958 0 0 STK33 65975 broad.mit.edu 37 11 8478967 8478967 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:8478967C>T ENST00000447869.1 - 5 1536 c.618G>A c.(616-618)agG>agA p.R206R STK33_ENST00000396672.1_Silent_p.R206R|STK33_ENST00000396673.1_Silent_p.R206R|STK33_ENST00000534493.1_Silent_p.R165R|STK33_ENST00000358872.3_Silent_p.R19R|STK33_ENST00000315204.1_Silent_p.R206R Q9BYT3 STK33_HUMAN serine/threonine kinase 33 206 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) AATGCCCTTTCCTATCCAGAA 0.373000 12 41 0 0 0.004007 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110498933 110498933 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:110498933G>A ENST00000378402.5 + 59 9867 c.9763G>A c.(9763-9765)Ggg>Agg p.G3255R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3255 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) AGCTGATGTTGGGATACTGAG 0.453000 HNSCC(38;0.096) 7 14 0 0 0.001984 0 0 SQRDL 58472 broad.mit.edu 37 15 45968309 45968309 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:45968309G>A ENST00000260324.7 + 6 1051 c.665G>A c.(664-666)cGa>cAa p.R222Q RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.R222Q|SQRDL_ENST00000568606.1_Missense_Mutation_p.R222Q NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 222 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) ACAGGGAAGCGATCCAAGGCC 0.433000 97 197 0 0 0.003610 0 0 SERPINF2 5345 broad.mit.edu 37 17 1650749 1650749 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:1650749C>T ENST00000324015.3 + 7 735 c.658C>T c.(658-660)Ctc>Ttc p.L220F SERPINF2_ENST00000382061.4_Missense_Mutation_p.L220F|SERPINF2_ENST00000450523.2_Missense_Mutation_p.L156F NM_000934.3 NP_000925.2 P08697 A2AP_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 220 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) TCAGGAATTCCTCTCTGGGCT 0.592000 17 21 0 0 0.001523 0 0 ZMYM6 9204 broad.mit.edu 37 1 35477493 35477493 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:35477493G>A ENST00000357182.4 - 8 1287 c.1060C>T c.(1060-1062)Cag>Tag p.Q354* ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q354*|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q354* NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 354 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GATCATACCTGGAAAGCAACC 0.423000 16 35 0 0 0.003163 0 0 CACNG3 10368 broad.mit.edu 37 16 24373007 24373007 + Silent SNP C C T rs144805488 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:24373007C>T ENST00000005284.3 + 4 1973 c.771C>T c.(769-771)atC>atT p.I257I NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 257 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TCCACACCATCCCTTCCACTG 0.592000 26 54 0 0 0.004656 0 0 AKAP9 10142 broad.mit.edu 37 7 91712761 91712761 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:91712761C>T ENST00000359028.2 + 34 8699 c.8474C>T c.(8473-8475)tCc>tTc p.S2825F AKAP9_ENST00000358100.2_Missense_Mutation_p.S2825F|AKAP9_ENST00000356239.3_Missense_Mutation_p.S2813F Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2825 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGTGAATGTTCCTCAGAAGAA 0.363000 T BRAF papillary thyroid 10 25 0 0 0.000443 0 0 FAM200A 221786 broad.mit.edu 37 7 99145994 99145994 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:99145994G>A ENST00000449309.1 - 2 416 c.37C>T c.(37-39)Cca>Tca p.P13S NM_145111.3 NP_659802.1 Q8TCP9 F200A_HUMAN family with sequence similarity 200, member A 13 integral to membrane nucleic acid binding endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1) 11 GTACCCCCTGGAGACAAATCT 0.453000 36 68 0 0 0.001706 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688370 30688370 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:30688370G>A ENST00000215790.7 - 9 1685 c.1521C>T c.(1519-1521)taC>taT p.Y507Y RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.Y514Y|TBC1D10A_ENST00000403362.1_Silent_p.Y419Y NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 507 Binding to the PDZ domain of EBP50. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity p.Y507Y(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 AGGGTTACAAGTAGGTGTCCT 0.597000 75 155 0 0 0.003610 0 0 CHD4 1108 broad.mit.edu 37 12 6692249 6692249 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:6692249G>A ENST00000309577.6 - 26 4338 c.4175C>T c.(4174-4176)tCc>tTc p.S1392F CHD4_ENST00000357008.2_Missense_Mutation_p.S1364F|CHD4_ENST00000544484.1_Missense_Mutation_p.S1389F|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544040.1_Missense_Mutation_p.S1357F|RP5-940J5.6_ENST00000501075.2_RNA Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1364 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGAGTAATCGGACTGGTTGTC 0.547000 22 71 0 0 0.002299 0 0 RNF17 56163 broad.mit.edu 37 13 25373580 25373580 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:25373580G>A ENST00000255324.5 + 12 1499 c.1447G>A c.(1447-1449)Gga>Aga p.G483R RNF17_ENST00000255325.5_Missense_Mutation_p.G484R|RNF17_ENST00000381921.1_Missense_Mutation_p.G483R NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 483 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GTGGTGTCGAGGAACTATCAC 0.323000 16 107 0 0 0.004990 0 0 CCDC74B 91409 broad.mit.edu 37 2 130897227 130897227 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:130897227G>A ENST00000392984.3 - 7 2093 c.1350C>T c.(1348-1350)atC>atT p.I450I CCDC74B_ENST00000409943.3_Silent_p.I282I|CCDC74B_ENST00000310463.6_Silent_p.I348I Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 348 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) GTGCGGGCAGGATGGCACGCT 0.637000 8 16 0 0 0.004482 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94668085 94668085 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:94668085G>A ENST00000370217.3 - 11 1408 c.1158C>T c.(1156-1158)ttC>ttT p.F386F ARHGAP29_ENST00000260526.6_Intron Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 0 N -> D (in Ref. 1; AAB81012). Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AAATAAAAAAGAAAAAGATCG 0.413000 22 68 0 0 0.001882 0 0 NEFM 4741 broad.mit.edu 37 8 24776021 24776021 + Missense_Mutation SNP G G A rs150229714 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:24776021G>A ENST00000221166.5 + 3 3435 c.2653G>A c.(2653-2655)Gag>Aag p.E885K NEFM_ENST00000518131.1_Missense_Mutation_p.E667K|NEFM_ENST00000433454.2_Missense_Mutation_p.E509K|NEFM_ENST00000437366.2_Missense_Mutation_p.E846K|NEFM_ENST00000521540.1_3'UTR P07197 NFM_HUMAN neurofilament, medium polypeptide 885 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AAAGGTTGAAGAGCATGAAGA 0.428000 35 88 0 0 0.003271 0 0 AHCYL2 23382 broad.mit.edu 37 7 129046259 129046259 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:129046259C>T ENST00000325006.3 + 10 1301 c.1247C>T c.(1246-1248)tCc>tTc p.S416F AHCYL2_ENST00000490911.1_Missense_Mutation_p.S313F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S313F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S335F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S314F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S415F NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 416 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 GCCATGGGCTCCATTGTGTAT 0.498000 40 72 0 0 0.003214 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111896267 111896267 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:111896267C>T ENST00000375741.2 + 8 1121 c.871C>T c.(871-873)Cag>Tag p.Q291* ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375737.5_Nonsense_Mutation_p.Q188*|ARHGEF7_ENST00000375736.4_Nonsense_Mutation_p.Q113*|ARHGEF7_ENST00000426073.2_Nonsense_Mutation_p.Q113*|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000478679.1_Nonsense_Mutation_p.Q35*|ARHGEF7_ENST00000317133.5_Nonsense_Mutation_p.Q270*|ARHGEF7_ENST00000375723.1_Nonsense_Mutation_p.Q113*|ARHGEF7_ENST00000375739.2_Nonsense_Mutation_p.Q241*|ARHGEF7_ENST00000218789.5_Nonsense_Mutation_p.Q113*|ARHGEF7_ENST00000370623.3_Nonsense_Mutation_p.Q198* NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 291 DH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TAAAGAACTTCAGACTGTGCT 0.318000 14 19 0 0 0.002450 0 0 PIN1 5300 broad.mit.edu 37 19 9949200 9949200 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9949200G>A ENST00000247970.4 + 2 169 c.147G>A c.(145-147)caG>caA p.Q49Q PIN1_ENST00000588695.1_Silent_p.Q49Q|PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000587625.1_Silent_p.Q49Q NM_006221.3 NP_006212.1 Q13526 PIN1_HUMAN peptidylprolyl cis/trans isomerase, NIMA-interacting 1 49 cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation nucleoplasm GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding skin(3) 3 AAAACGGGCAGGGGGAGCCTG 0.662000 7 11 0 0 0.001984 0 0 ANLN 54443 broad.mit.edu 37 7 36458936 36458936 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:36458936C>T ENST00000265748.2 + 10 1938 c.1717C>T c.(1717-1719)Cta>Tta p.L573L ANLN_ENST00000396068.2_Silent_p.L536L NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 573 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CAGTGATGTCCTAGAGGAAGG 0.388000 18 46 0 0 0.006122 0 0 ZNF503 84858 broad.mit.edu 37 10 77158574 77158574 + Missense_Mutation SNP G G C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:77158574G>C ENST00000372524.4 - 2 2360 c.1874C>G c.(1873-1875)cCg>cGg p.P625R RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.P625R NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 625 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) GGAGTAGTACGGTCCGGTGGC 0.726000 3 9 0 0 0.000248 0 0 PEG3 5178 broad.mit.edu 37 19 57327492 57327492 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:57327492G>A ENST00000326441.9 - 10 2681 c.2318C>T c.(2317-2319)tCa>tTa p.S773L ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S649L|PEG3_ENST00000593695.1_Missense_Mutation_p.S647L|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S773L|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 773 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) CCTCTCATATGATTTTGCCTC 0.438000 55 91 0 0 0.003610 0 0 TMEM176B 28959 broad.mit.edu 37 7 150488649 150488649 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:150488649C>T ENST00000447204.2 - 7 1155 c.783G>A c.(781-783)agG>agA p.R261R TMEM176B_ENST00000434545.1_Silent_p.R261R|TMEM176B_ENST00000450753.2_Silent_p.R224R|TMEM176B_ENST00000326442.5_Silent_p.R261R|TMEM176B_ENST00000492607.1_Silent_p.R261R|TMEM176B_ENST00000429904.2_Silent_p.R261R NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 261 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGTCTGCTCCCTAGAGGGCG 0.567000 15 47 0 0 0.002780 0 0 U2SURP 23350 broad.mit.edu 37 3 142720497 142720497 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:142720497T>C ENST00000473835.2 + 1 117 c.27T>C c.(25-27)tcT>tcC p.S9S U2SURP_ENST00000493598.2_Silent_p.S9S|U2SURP_ENST00000397933.2_5'UTR NM_001080415.1 NP_001073884.1 O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 9 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 CAGGCGGATCTCAGAAGGCCA 0.572000 13 31 0 0 0.004990 0 0 CFHR1 3078 broad.mit.edu 37 1 196800955 196800955 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:196800955G>A ENST00000320493.5 + 6 907 c.819G>A c.(817-819)atG>atA p.M273I CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.M214I NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 273 Sushi 5. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GAGAAATTATGGAAAATTATA 0.333000 20 14 0 0 0.003330 0 0 CCDC40 55036 broad.mit.edu 37 17 78063628 78063628 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:78063628C>T ENST00000397545.4 + 17 2804 c.2777C>T c.(2776-2778)tCc>tTc p.S926F CCDC40_ENST00000374877.3_Missense_Mutation_p.S926F|CCDC40_ENST00000573903.1_3'UTR NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 926 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) TCAGTGGATTCCGAGATCGGC 0.552000 24 20 0 0 0.005443 0 0 TEX14 56155 broad.mit.edu 37 17 56692691 56692691 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:56692691C>T ENST00000389934.3 - 8 900 c.783G>A c.(781-783)ggG>ggA p.G261G TEX14_ENST00000349033.5_Silent_p.G261G|TEX14_ENST00000240361.8_Silent_p.G267G NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 267 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGACCCTGCTCCCATTCCACA 0.527000 33 59 0 0 0.002836 0 0 THBS4 7060 broad.mit.edu 37 5 79363932 79363932 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:79363932G>A ENST00000350881.2 + 10 1521 c.1331G>A c.(1330-1332)gGg>gAg p.G444E CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G353E NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 444 EGF-like 4. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GAGAGGCAGGGGGATGTGACA 0.458000 39 45 0 0 0.002522 0 0 CDH6 1004 broad.mit.edu 37 5 31313499 31313499 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:31313499C>T ENST00000265071.2 + 8 1593 c.1328C>T c.(1327-1329)tCg>tTg p.S443L CDH6_ENST00000514738.1_Missense_Mutation_p.S388L NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 443 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATTTTTACATCGAAACTTCTT 0.393000 36 53 0 0 0.003755 0 0 NT5DC3 51559 broad.mit.edu 37 12 104179185 104179185 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:104179185G>A ENST00000392876.3 - 12 1297 c.1257C>T c.(1255-1257)atC>atT p.I419I NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 419 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 CCGTGTTCATGATTTTGAGCT 0.438000 37 50 0 0 0.001287 0 0 CNGB1 1258 broad.mit.edu 37 16 57931750 57931750 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:57931750C>T ENST00000564448.1 - 30 3087 c.3027G>A c.(3025-3027)ggG>ggA p.G1009G CNGB1_ENST00000251102.8_Silent_p.G1015G Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1015 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GCACAGATTTCCCATCAGGGC 0.557000 68 153 0 0 0.003610 0 0 SNRK 54861 broad.mit.edu 37 3 43381846 43381846 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:43381846C>T ENST00000296088.7 + 5 1103 c.799C>T c.(799-801)Cct>Tct p.P267S SNRK_ENST00000454177.1_Missense_Mutation_p.P267S|SNRK_ENST00000429705.2_Missense_Mutation_p.P267S|SNRK_ENST00000437827.1_Missense_Mutation_p.P61S NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 267 Protein kinase. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) TGAAAATCATCCTTGGCTTCA 0.438000 73 131 0 0 0.003610 0 0 LILRA1 11024 broad.mit.edu 37 19 55107847 55107847 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:55107847G>A ENST00000251372.3 + 7 1334 c.1152G>A c.(1150-1152)atG>atA p.M384I LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 384 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) AATTCCCTATGAGTCCTGTGA 0.572000 43 61 0 0 0.003214 0 0 GRM5 2915 broad.mit.edu 37 11 88780813 88780813 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:88780813C>T ENST00000418177.2 - 2 595 c.228G>A c.(226-228)ctG>ctA p.L76L GRM5_ENST00000305447.4_Silent_p.L76L|GRM5_ENST00000305432.5_Silent_p.L76L|GRM5_ENST00000393297.1_Silent_p.L76L|GRM5_ENST00000455756.2_Silent_p.L76L|GRM5_ENST00000393294.3_Silent_p.L76L P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 76 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TGATCCTTTCCAGGGTATGCA 0.542000 6 8 0 0 0.001984 0 0 PKD1L1 168507 broad.mit.edu 37 7 47874589 47874589 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:47874589C>T ENST00000289672.2 - 39 6153 c.6103G>A c.(6103-6105)Gga>Aga p.G2035R NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2035 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GTCTGTGCTCCTCCTCTAAGT 0.542000 29 74 0 0 0.003271 0 0 PTPRT 11122 broad.mit.edu 37 20 40730817 40730817 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:40730817G>A ENST00000373198.3 - 27 3962 c.3727C>T c.(3727-3729)Ctt>Ttt p.L1243F PTPRT_ENST00000373184.1_Missense_Mutation_p.L1231F|PTPRT_ENST00000373187.1_Missense_Mutation_p.L1221F|PTPRT_ENST00000373190.1_Missense_Mutation_p.L1220F|PTPRT_ENST00000356100.2_Missense_Mutation_p.L1230F|PTPRT_ENST00000373193.3_Missense_Mutation_p.L1224F|PTPRT_ENST00000373201.1_Missense_Mutation_p.L1211F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1221 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACTGAGATAAGGAAGGGCAGG 0.577000 26 48 0 0 0.002096 0 0 SGSM1 129049 broad.mit.edu 37 22 25255689 25255689 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:25255689G>A ENST00000400358.4 + 9 865 c.808G>A c.(808-810)Gac>Aac p.D270N SGSM1_ENST00000400359.4_Missense_Mutation_p.D270N NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 270 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GCAGAGGGACGACATGGAGGC 0.562000 16 27 0 0 0.004990 0 0 OR5L1 219437 broad.mit.edu 37 11 55578985 55578985 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:55578985C>T ENST00000333973.2 + 1 132 c.43C>T c.(43-45)Ctt>Ttt p.L15F NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GTTCATTCTCCTTGGACTATC 0.428000 19 93 0 0 0.001523 0 0 GPR137 56834 broad.mit.edu 37 11 64056796 64056796 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:64056796C>T ENST00000411458.1 + 9 1415 c.1387C>T c.(1387-1389)Cct>Tct p.P463S GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P405S|GPR137_ENST00000438980.2_3'UTR NM_001170726.1 NP_001164197.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 405 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 CTGGCCGGCTCCTTGCTGCTC 0.667000 15 81 0 0 0.001216 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144061029 144061029 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:144061029C>T ENST00000056217.5 + 2 1441 c.1267C>T c.(1267-1269)Cca>Tca p.P423S NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 423 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) TGACCTGTTTCCAGGTGCCTC 0.577000 15 9 0 0 0.000958 0 0 HSP90B1 7184 broad.mit.edu 37 12 104326062 104326062 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:104326062G>A ENST00000299767.5 + 3 342 c.160G>A c.(160-162)Gaa>Aaa p.E54K NM_003299.1 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 54 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) TAGAGAGGAAGAAGCTATTCA 0.383000 10 37 0 0 0.000443 0 0 TMC5 79838 broad.mit.edu 37 16 19455440 19455440 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:19455440C>T ENST00000396229.2 + 4 1575 c.826C>T c.(826-828)Cgt>Tgt p.R276C TMC5_ENST00000541464.1_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C|TMC5_ENST00000381414.4_Missense_Mutation_p.R276C NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 276 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCCCTCATTTCGTCACAGGAG 0.463000 34 67 0 0 0.004878 0 0 ZNF808 388558 broad.mit.edu 37 19 53057062 53057062 + Missense_Mutation SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:53057062A>C ENST00000359798.4 + 5 1073 c.893A>C c.(892-894)tAc>tCc p.Y298S NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TCCTTCAGTTACAAGTCATCC 0.418000 31 89 0 0 0.002445 0 0 OR4X1 390113 broad.mit.edu 37 11 48285459 48285459 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:48285459C>T ENST00000320048.1 + 1 47 c.47C>T c.(46-48)tCc>tTc p.S16F NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GTGGGATTTTCCCAGAATTGG 0.453000 25 27 0 0 0.004656 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356480 40356480 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:40356480G>A ENST00000310169.2 + 5 1522 c.1383G>A c.(1381-1383)tgG>tgA p.W461* NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 461 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TCTTCATGTGGATTTTTTTCA 0.408000 53 110 0 0 0.003610 0 0 FAIM2 23017 broad.mit.edu 37 12 50264310 50264310 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:50264310G>A ENST00000320634.3 - 12 1022 c.928C>T c.(928-930)Ctt>Ttt p.L310F FAIM2_ENST00000550890.1_Missense_Mutation_p.L264F NM_012306.3 NP_036438.2 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 310 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 GTGCCAAAAAGCTGCAGGAAG 0.562000 43 53 0 0 0.003610 0 0 ABCG1 9619 broad.mit.edu 37 21 43702476 43702476 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:43702476C>T ENST00000398437.1 + 7 1267 c.1119C>T c.(1117-1119)atC>atT p.I373I ABCG1_ENST00000343687.3_Silent_p.I238I|ABCG1_ENST00000398457.2_Silent_p.I229I|ABCG1_ENST00000398449.3_Silent_p.I227I|ABCG1_ENST00000361802.2_Silent_p.I227I|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Silent_p.I335I|ABCG1_ENST00000347800.2_Silent_p.I224I P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 227 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GCCTGGCCATCGCGCTGGAGC 0.627000 8 29 0 0 0.000443 0 0 SLC38A3 10991 broad.mit.edu 37 3 50256359 50256359 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:50256359C>T ENST00000420502.1 + 0 1438 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) CCCCAACATCCTGGGCATCTT 0.552000 17 30 0 0 0.001216 0 0 UNC13C 440279 broad.mit.edu 37 15 54860035 54860035 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:54860035A>G ENST00000545554.1 + 29 5996 c.5996A>G c.(5995-5997)aAt>aGt p.N1999S UNC13C_ENST00000260323.11_Missense_Mutation_p.N1999S|UNC13C_ENST00000537900.1_Missense_Mutation_p.N1997S Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1999 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGAAAAAGAATTTCTTGGAG 0.353000 4 6 0 0 0.000602 0 0 ETV5 2119 broad.mit.edu 37 3 185766567 185766567 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:185766567G>A ENST00000306376.5 - 13 1640 c.1394C>T c.(1393-1395)cCg>cTg p.P465L ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.P507L|ETV5_ENST00000434744.1_Missense_Mutation_p.P465L NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 465 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) CTTCAGGAACGGACGCTGGTT 0.592000 T """TMPRSS2, SCL45A3""" Prostate 12 34 0 0 0.002450 0 0 ACAN 176 broad.mit.edu 37 15 89382240 89382240 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:89382240C>T ENST00000439576.2 + 3 791 c.417C>T c.(415-417)atC>atT p.I139I ACAN_ENST00000561243.1_Silent_p.I139I|ACAN_ENST00000558207.1_Silent_p.I139I|ACAN_ENST00000352105.7_Silent_p.I139I|ACAN_ENST00000559004.1_Silent_p.I139I NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 139 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGCATGGCATCGAGGACAGCG 0.612000 25 70 0 0 0.003954 0 0 TRIM3 10612 broad.mit.edu 37 11 6470603 6470603 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:6470603G>A ENST00000525074.1 - 11 2409 c.2015C>T c.(2014-2016)cCc>cTc p.P672L TRIM3_ENST00000537602.1_Missense_Mutation_p.P594L|TRIM3_ENST00000345851.3_Missense_Mutation_p.P672L|TRIM3_ENST00000536344.1_Missense_Mutation_p.P553L|TRIM3_ENST00000359518.3_Missense_Mutation_p.P672L NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 672 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACTCCTGTGGGGGCATTGAA 0.592000 14 23 0 0 0.003163 0 0 ERCC6 2074 broad.mit.edu 37 10 50686467 50686467 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:50686467G>A ENST00000355832.5 - 11 2297 c.2219C>T c.(2218-2220)cCa>cTa p.P740L ERCC6_ENST00000542458.1_Missense_Mutation_p.P110L NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 740 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CAGTAGGTATGGATTTATGGT 0.388000 Direct reversal of damage;Nucleotide excision repair (NER) 41 89 0 0 0.002522 0 0 RGS3 5998 broad.mit.edu 37 9 116246496 116246496 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:116246496C>T ENST00000374140.2 + 7 813 c.604C>T c.(604-606)Cac>Tac p.H202Y RGS3_ENST00000350696.5_Missense_Mutation_p.H202Y|RGS3_ENST00000317613.6_Missense_Mutation_p.H90Y NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 202 C2. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CCCGGCTTTCCACGAGCACTT 0.483000 42 36 0 0 0.003610 0 0 SNHG14 104472715 broad.mit.edu 37 15 25351673 25351673 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:25351673G>A ENST00000546682.1 + 0 3911 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-29_ENST00000384516.1_RNA NR_003361.1 TGCCTGGATCGATGATGACTT 0.458000 9 19 0 0 0.000443 0 0 MSL3P1 151507 broad.mit.edu 37 2 234774900 234774900 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:234774900C>T ENST00000438684.1 - 0 1214 NR_024322.1 CAAAGTGCTTCAATAAAGCCT 0.428000 15 53 0 0 0.004007 0 0 SHOC2 8036 broad.mit.edu 37 10 112764468 112764468 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:112764468C>T ENST00000369452.4 + 5 1422 c.1077C>T c.(1075-1077)tcC>tcT p.S359S SHOC2_ENST00000265277.5_Silent_p.S313S|SHOC2_ENST00000489390.1_3'UTR NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 359 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) CCATCTATTCCCTCAACATGG 0.353000 8 43 0 0 0.000978 0 0 SYT7 9066 broad.mit.edu 37 11 61290569 61290569 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:61290569C>T ENST00000263846.4 - 8 1412 c.1085G>A c.(1084-1086)aGc>aAc p.S362N SYT7_ENST00000542836.1_Missense_Mutation_p.S406N|SYT7_ENST00000540677.1_Missense_Mutation_p.S437N|SYT7_ENST00000535826.1_Missense_Mutation_p.S481N|SYT7_ENST00000542670.1_Missense_Mutation_p.S570N|SYT7_ENST00000539008.1_Missense_Mutation_p.S645N NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 362 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GTCATTGCGGCTGAGCTTGTC 0.572000 16 80 0 0 0.000958 0 0 CDC45 8318 broad.mit.edu 37 22 19504097 19504097 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:19504097C>T ENST00000407835.1 + 17 1744 c.1488C>T c.(1486-1488)ccC>ccT p.P496P CDC45_ENST00000404724.3_Silent_p.P450P|CDC45_ENST00000263201.1_Silent_p.P496P|CDC45_ENST00000437685.2_Silent_p.P528P O75419 CDC45_HUMAN cell division cycle 45 496 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 TGGCTGCCCCCCTGAGCATGG 0.627000 27 25 0 0 0.001271 0 0 TGFBI 7045 broad.mit.edu 37 5 135390545 135390545 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:135390545C>T ENST00000442011.2 + 10 1566 c.1405C>T c.(1405-1407)Cgt>Tgt p.R469C TGFBI_ENST00000305126.8_Missense_Mutation_p.R469C NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 469 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTTGTTTATCGTAATGTAAG 0.423000 74 111 0 0 0.003610 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882851 228882851 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:228882851C>T ENST00000392056.3 - 7 2765 c.2719G>A c.(2719-2721)Gac>Aac p.D907N SPHKAP_ENST00000344657.5_Missense_Mutation_p.D907N NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 907 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) AGCAGCAGGTCATCCCCTAAC 0.488000 27 129 0 0 0.005443 0 0 WDR34 89891 broad.mit.edu 37 9 131396564 131396564 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:131396564A>T ENST00000372715.2 - 8 1373 c.1313T>A c.(1312-1314)cTg>cAg p.L438Q NM_052844.3 NP_443076.2 Q96EX3 WDR34_HUMAN WD repeat domain 34 438 cytoplasm central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 CACAGCAAACAGATACTTGAG 0.597000 39 29 0 0 0.002522 0 0 C4orf22 255119 broad.mit.edu 37 4 81884756 81884756 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:81884756G>A ENST00000358105.3 + 6 741 c.692G>A c.(691-693)aGg>aAg p.R231K C4orf22_ENST00000508675.1_Missense_Mutation_p.R248K NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 231 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 ATTTCCAGAAGGAAGACTTAA 0.348000 6 6 0 0 0.003080 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261885 125261885 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:125261885C>T ENST00000431078.1 + 8 1440 c.1076C>T c.(1075-1077)tCc>tTc p.S359F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 359 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GTCACTTTTTCCTGCTCCGAA 0.463000 10 59 0 0 0.000978 0 0 GTF3C1 2975 broad.mit.edu 37 16 27476020 27476020 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:27476020G>A ENST00000356183.4 - 34 5508 c.5493C>T c.(5491-5493)gaC>gaT p.D1831D GTF3C1_ENST00000561623.1_Silent_p.D1831D NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1831 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TGGCCTGGGGGTCTTCTCTCT 0.677000 31 49 0 0 0.002096 0 0 C3orf56 285311 broad.mit.edu 37 3 126916110 126916110 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:126916110C>T ENST00000398112.1 + 2 822 c.582C>T c.(580-582)ttC>ttT p.F194F NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CCTCCAGGTTCGGTATTTGGG 0.632000 17 20 0 0 0.001216 0 0 ZMPSTE24 10269 broad.mit.edu 37 1 40726592 40726592 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:40726592C>T ENST00000372759.3 + 2 370 c.205C>T c.(205-207)Ctc>Ttc p.L69F ZMPSTE24_ENST00000479131.1_3'UTR NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 69 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-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;6.3e-18) GAAATCTCGACTCTATCAACT 0.378000 56 88 0 0 0.003610 0 0 FAM166A 401565 broad.mit.edu 37 9 140139814 140139814 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:140139814C>T ENST00000344774.4 - 3 521 c.467G>A c.(466-468)gGg>gAg p.G156E FAM166A_ENST00000388932.2_Missense_Mutation_p.G156E NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 156 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 GGCCTCTTCCCCGTATACTGG 0.662000 35 22 0 0 0.003271 0 0 TTN 7273 broad.mit.edu 37 2 179582835 179582835 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179582835C>T ENST00000589042.1 - 86 25122 c.24898G>A c.(24898-24900)Gaa>Aaa p.E8300K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E7983K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E7056K|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7983 Ig-like 65. 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) TTTGTGTGTTCTTTATACCAA 0.383000 16 18 0 0 0.006122 0 0 CYP3A4 1576 broad.mit.edu 37 7 99367468 99367468 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:99367468G>A ENST00000336411.2 - 6 627 c.444C>T c.(442-444)atC>atT p.I148I CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 148 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) ACTGGGCAATGATAGGGACCA 0.498000 14 50 0 0 0.002780 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20252888 20252888 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:20252888A>G ENST00000379565.3 - 2 321 c.114T>C c.(112-114)atT>atC p.I38I RPS6KA3_ENST00000544447.1_Silent_p.I10I|RPS6KA3_ENST00000540702.1_Silent_p.I10I NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 38 I -> S (in dbSNP:rs56218010). axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 TTTGTGGGTTAATCTCCTCCT 0.343000 36 15 0 0 0.002222 0 0 LPCAT4 254531 broad.mit.edu 37 15 34654491 34654491 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:34654491A>G ENST00000314891.6 - 10 1093 c.916T>C c.(916-918)Ttt>Ctt p.F306L NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 306 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 CTCCCTACAAACTCACATTCG 0.547000 48 68 0 0 0.003610 0 0 ZNF668 79759 broad.mit.edu 37 16 31073569 31073569 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:31073569G>A ENST00000538906.1 - 3 1464 c.680C>T c.(679-681)tCc>tTc p.S227F ZNF668_ENST00000300849.4_Missense_Mutation_p.S227F|ZNF668_ENST00000394983.2_Missense_Mutation_p.S227F|ZNF668_ENST00000535577.1_Missense_Mutation_p.S227F|ZNF668_ENST00000539836.3_Missense_Mutation_p.S250F|ZNF668_ENST00000426488.2_Missense_Mutation_p.S250F NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CCCGCACTCGGAGCAGAGGAA 0.682000 21 45 0 0 0.004656 0 0 SYTL4 94121 broad.mit.edu 37 X 99942167 99942167 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:99942167C>T ENST00000455616.1 - 12 1427 c.1081G>A c.(1081-1083)Gcc>Acc p.A361T SYTL4_ENST00000276141.6_Missense_Mutation_p.A361T|SYTL4_ENST00000454200.2_Missense_Mutation_p.A363T|SYTL4_ENST00000263033.5_Missense_Mutation_p.A361T|SYTL4_ENST00000372989.1_Missense_Mutation_p.A361T|SYTL4_ENST00000372981.1_3'UTR Q96C24 SYTL4_HUMAN synaptotagmin-like 4 361 C2 1. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGGAAAAGGCAATCCTGCCA 0.493000 35 13 0 0 0.005524 0 0 FLT3 2322 broad.mit.edu 37 13 28602361 28602361 + Silent SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:28602361T>A ENST00000380982.4 - 16 2088 c.2007A>T c.(2005-2007)ggA>ggT p.G669G FLT3_ENST00000241453.7_Silent_p.G669G|FLT3_ENST00000537084.1_Silent_p.G669G P36888 FLT3_HUMAN fms-related tyrosine kinase 3 669 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TCTCGTGGCTTCCCAGCTGGG 0.448000 """Mis, O""" """AML, ALL""" 16 31 0 0 0.000958 0 0 TIAM2 26230 broad.mit.edu 37 6 155485721 155485721 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:155485721C>T ENST00000461783.3 + 10 3474 c.2201C>T c.(2200-2202)tCt>tTt p.S734F TIAM2_ENST00000360366.4_Missense_Mutation_p.S734F|TIAM2_ENST00000456144.1_Missense_Mutation_p.S734F|TIAM2_ENST00000456877.2_Missense_Mutation_p.S46F|TIAM2_ENST00000529824.2_Missense_Mutation_p.S734F|TIAM2_ENST00000318981.5_Missense_Mutation_p.S734F|TIAM2_ENST00000367174.2_Missense_Mutation_p.S86F|TIAM2_ENST00000528391.2_Missense_Mutation_p.S46F Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 734 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TCTGTTTCCTCTTTCCATGCT 0.587000 70 95 0 0 0.003610 0 0 USP32 84669 broad.mit.edu 37 17 58300780 58300780 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:58300780G>A ENST00000300896.4 - 14 1794 c.1600C>T c.(1600-1602)Cca>Tca p.P534S USP32_ENST00000592339.1_Missense_Mutation_p.P204S NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 534 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ACCTTTACTGGTTCTTGAGTT 0.343000 28 64 0 0 0.001271 0 0 FAT1 2195 broad.mit.edu 37 4 187509767 187509767 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:187509767G>A ENST00000441802.2 - 27 13955 c.13746C>T c.(13744-13746)tcC>tcT p.S4582S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4582 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGTGCTGCTGGGAATCCAGGG 0.562000 HNSCC(5;0.00058) 16 10 0 0 0.000958 0 0 OLFM2 93145 broad.mit.edu 37 19 9967558 9967558 + Silent SNP G G C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9967558G>C ENST00000264833.4 - 5 797 c.612C>G c.(610-612)ccC>ccG p.P204P OLFM2_ENST00000590841.1_Silent_p.P126P NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 204 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 GAACGGTGATGGGGTTACTGA 0.637000 4 9 0 0 0.001168 0 0 XIRP2 129446 broad.mit.edu 37 2 168097217 168097217 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:168097217C>T ENST00000409195.1 + 7 1102 c.1013C>T c.(1012-1014)tCt>tTt p.S338F XIRP2_ENST00000409728.1_Missense_Mutation_p.S371F|XIRP2_ENST00000409756.2_Missense_Mutation_p.S338F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S338F|XIRP2_ENST00000409043.1_Missense_Mutation_p.S338F|XIRP2_ENST00000409605.1_Missense_Mutation_p.S116F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S116F|XIRP2_ENST00000420519.1_Missense_Mutation_p.S371F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 163 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AACCAAGCATCTCAGTTTCAT 0.318000 35 51 0 0 0.001706 0 0 PYGM 5837 broad.mit.edu 37 11 64522293 64522293 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:64522293C>T ENST00000164139.3 - 8 1269 c.871G>A c.(871-873)Gag>Aag p.E291K PYGM_ENST00000377432.3_Missense_Mutation_p.E203K NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 291 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) AGCCGCAGCTCCTTCCCTTCG 0.627000 5 15 0 0 0.001168 0 0 ADAM21 8747 broad.mit.edu 37 14 70924751 70924751 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:70924751G>A ENST00000603540.1 + 2 793 c.535G>A c.(535-537)Gaa>Aaa p.E179K ADAM21_ENST00000267499.3_Missense_Mutation_p.E179K|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 179 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AACAGAGAAGGAAGTAGCACG 0.458000 10 28 0 0 0.000673 0 0 WDR41 55255 broad.mit.edu 37 5 76729001 76729001 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:76729001G>A ENST00000296679.4 - 13 1714 c.1339C>T c.(1339-1341)Caa>Taa p.Q447* WDR41_ENST00000512033.1_5'UTR|WDR41_ENST00000507029.1_Nonsense_Mutation_p.Q392*|WDR41_ENST00000414719.2_Nonsense_Mutation_p.Q193* NM_018268.2 NP_060738.2 Q9HAD4 WDR41_HUMAN WD repeat domain 41 447 NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) TCTAATTTTTGAAATAATCTT 0.373000 15 74 0 0 0.000958 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77356242 77356242 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:77356242C>T ENST00000282849.5 - 14 2572 c.2154G>A c.(2152-2154)ggG>ggA p.G718G NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 718 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CTTCACAAACCCCGTCAATAC 0.418000 22 56 0 0 0.002780 0 0 ERBB4 2066 broad.mit.edu 37 2 212251679 212251679 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:212251679C>T ENST00000342788.4 - 27 3690 c.3380G>A c.(3379-3381)aGg>aAg p.R1127K ERBB4_ENST00000436443.1_Missense_Mutation_p.R1111K|ERBB4_ENST00000402597.1_Missense_Mutation_p.R1117K NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1127 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AGCACTGTACCTCTGGGTGCT 0.552000 TSP Lung(8;0.080) 14 37 0 0 0.004990 0 0 MLXIP 22877 broad.mit.edu 37 12 122611827 122611827 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:122611827G>A ENST00000319080.6 + 2 570 c.438G>A c.(436-438)tgG>tgA p.W146* Q9HAP2 MLXIP_HUMAN MLX interacting protein 146 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CTCCAAAGTGGAAGAATTTCA 0.512000 OREG0022217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 12 0 0 0.000673 0 0 BPTF 2186 broad.mit.edu 37 17 65850238 65850238 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:65850238C>T ENST00000321892.4 + 2 857 c.796C>T c.(796-798)Cgc>Tgc p.R266C BPTF_ENST00000306378.6_Missense_Mutation_p.R266C|BPTF_ENST00000424123.3_Missense_Mutation_p.R127C|BPTF_ENST00000335221.5_Missense_Mutation_p.R266C Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 266 DDT. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ATCTCCTTTTCGCTTTGAGGA 0.443000 30 79 0 0 0.001271 0 0 ZNF98 148198 broad.mit.edu 37 19 22574947 22574947 + Missense_Mutation SNP G G A rs74170714 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:22574947G>A ENST00000357774.5 - 4 1211 c.1090C>T c.(1090-1092)Cac>Tac p.H364Y NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GTAGTAAGGTGGGATAACCGG 0.383000 11 13 0 0 0.001368 0 0 SPTLC3 55304 broad.mit.edu 37 20 13053030 13053030 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:13053030G>A ENST00000399002.2 + 3 704 c.430G>A c.(430-432)Gta>Ata p.V144I SPTLC3_ENST00000378194.4_Missense_Mutation_p.V144I NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 144 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GATGGAGAGGGTATCAGACGA 0.443000 86 248 0 0 0.003610 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736306 140736306 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140736306C>T ENST00000571252.1 + 1 1539 c.1539C>T c.(1537-1539)atC>atT p.I513I PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATACAGGGATCCTATATGCTC 0.522000 55 63 0 0 0.003610 0 0 TSLP 85480 broad.mit.edu 37 5 110407594 110407594 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:110407594C>T ENST00000344895.3 + 1 205 c.6C>T c.(4-6)ttC>ttT p.F2F TSLP_ENST00000420978.2_Intron NM_033035.4 NP_149024.1 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 2 MFPFALLYVLS -> MKCLGQSKKEE (in Ref. 3; AAH40592). extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) CACGTATGTTCCCTTTTGCCT 0.448000 15 64 0 0 0.003163 0 0 CDH13 1012 broad.mit.edu 37 16 83704458 83704458 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:83704458G>A ENST00000566620.1 + 9 1455 c.1165G>A c.(1165-1167)Gat>Aat p.D389N CDH13_ENST00000268613.10_Missense_Mutation_p.D436N|CDH13_ENST00000428848.3_Missense_Mutation_p.D350N NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 389 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGAAGATAAGGATGACCCCAC 0.488000 19 49 0 0 0.001216 0 0 CEBPE 1053 broad.mit.edu 37 14 23587028 23587028 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:23587028G>A ENST00000206513.5 - 2 1038 c.514C>T c.(514-516)Cct>Tct p.P172S NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 172 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) GTGGCCAAAGGGGCCTGGAGG 0.672000 12 22 0 0 0.001368 0 0 TLN1 7094 broad.mit.edu 37 9 35706001 35706001 + Silent SNP G G A rs149087654 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:35706001G>A ENST00000314888.9 - 41 5822 c.5469C>T c.(5467-5469)gtC>gtT p.V1823V TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Intron NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1823 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGCCACCCACGACCCCAGCAG 0.617000 33 54 0 0 0.002836 0 0 NOD2 64127 broad.mit.edu 37 16 50733553 50733553 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:50733553C>T ENST00000300589.2 + 2 333 c.228C>T c.(226-228)ctC>ctT p.L76L NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 76 CARD 1. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GCTTCCACCTCCTGGGCCAGC 0.627000 24 58 0 0 0.003330 0 0 POLM 27434 broad.mit.edu 37 7 44119559 44119559 + Splice_Site SNP C C G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:44119559C>G ENST00000242248.5 - 3 474 c.e3-1 POLM_ENST00000335195.6_Splice_Site|POLM_ENST00000395831.3_Splice_Site NM_013284.2 NP_037416.1 Q9NP87 DPOLM_HUMAN polymerase (DNA directed), mu DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 GCCCAGCCACCTGGGGATGGG 0.642000 DNA polymerases (catalytic subunits) 18 20 0 0 0.006122 0 0 SYNE1 23345 broad.mit.edu 37 6 152646290 152646290 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:152646290G>A ENST00000367255.5 - 81 16187 c.15586C>T c.(15586-15588)Cga>Tga p.R5196* SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R5125*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R5125*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R4889*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R5196* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5196 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCCACAGCTCGAAGGCGTGTC 0.542000 HNSCC(10;0.0054) 10 147 0 0 0.001855 0 0 NTRK1 4914 broad.mit.edu 37 1 156841478 156841478 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:156841478A>G ENST00000368196.3 + 7 901 c.781A>G c.(781-783)Aag>Gag p.K261E NTRK1_ENST00000392302.2_Missense_Mutation_p.K231E|NTRK1_ENST00000358660.3_Missense_Mutation_p.K261E|NTRK1_ENST00000524377.1_Missense_Mutation_p.K261E NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 261 Ig-like C2-type 1. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CCTCAACAGGAAGAACGTGAC 0.587000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 46 43 0 0 0.003610 0 0 MGAM 8972 broad.mit.edu 37 7 141765418 141765418 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:141765418C>T ENST00000475668.2 + 39 4703 c.4649C>T c.(4648-4650)tCc>tTc p.S1550F MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1550 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTTGGCATATCCTATGTGAGT 0.498000 23 52 0 0 0.001061 0 0 ASF1B 55723 broad.mit.edu 37 19 14231322 14231322 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:14231322G>A ENST00000263382.3 - 4 1057 c.558C>T c.(556-558)ctC>ctT p.L186L ASF1B_ENST00000592798.1_Silent_p.L127L NM_018154.2 NP_060624.1 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B histone chaperone 186 cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 TGCAGCCAGGGAGCCCCAAGC 0.637000 5 34 0 0 0.000602 0 0 TDRD9 122402 broad.mit.edu 37 14 104491926 104491926 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:104491926G>A ENST00000409874.4 + 26 2792 c.2744G>A c.(2743-2745)gGa>gAa p.G915E TDRD9_ENST00000339063.5_Missense_Mutation_p.G915E NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 915 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) CACTTTTGGGGATACAGGATT 0.433000 13 62 0 0 0.001368 0 0 FOXN1 8456 broad.mit.edu 37 17 26851738 26851738 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:26851738G>A ENST00000226247.2 + 2 370 c.341G>A c.(340-342)cGa>cAa p.R114Q FOXN1_ENST00000579795.1_Missense_Mutation_p.R114Q NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 114 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) AGCCCTGGGCGATTCCTCAAG 0.657000 8 5 0 0 0.004482 0 0 MYRF 745 broad.mit.edu 37 11 61539312 61539312 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:61539312G>A ENST00000278836.5 + 7 1099 c.1003G>A c.(1003-1005)Gac>Aac p.D335N TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.D326N NM_001127392.1 NP_001120864.1 myelin regulatory factor CCTCCTGCAGGACAGTGACAG 0.617000 16 50 0 0 0.003163 0 0 PLCZ1 89869 broad.mit.edu 37 12 18865877 18865877 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:18865877C>T ENST00000266505.7 - 6 876 c.613G>A c.(613-615)Gat>Aat p.D205N PLCZ1_ENST00000541695.1_Missense_Mutation_p.D68N|PLCZ1_ENST00000447925.2_Missense_Mutation_p.D203N|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000538330.1_5'UTR Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 205 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TGTGCTCCATCCCAGCAGTCA 0.373000 6 30 0 0 0.001168 0 0 OR4C16 219428 broad.mit.edu 37 11 55340494 55340494 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:55340494G>A ENST00000314634.3 + 1 891 c.891G>A c.(889-891)agG>agA p.R297R NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) GTGCCATGAGGAAGCTTTGGA 0.358000 11 12 0 0 0.001368 0 0 FAM120C 54954 broad.mit.edu 37 X 54177717 54177717 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:54177717G>A ENST00000375180.2 - 4 1175 c.1119C>T c.(1117-1119)aaC>aaT p.N373N FAM120C_ENST00000328235.4_Silent_p.N373N NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 373 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CTACATCCAGGTTTGAGGGAT 0.468000 35 13 0 0 0.005524 0 0 TNIK 23043 broad.mit.edu 37 3 170908526 170908526 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:170908526C>T ENST00000436636.2 - 6 812 c.468G>A c.(466-468)ggG>ggA p.G156G TNIK_ENST00000460047.1_Silent_p.G156G|TNIK_ENST00000475336.1_Silent_p.G156G|TNIK_ENST00000470834.1_Silent_p.G156G|TNIK_ENST00000357327.5_Silent_p.G156G|TNIK_ENST00000341852.6_Silent_p.G156G|TNIK_ENST00000538048.1_Silent_p.G156G|TNIK_ENST00000488470.1_Silent_p.G156G|TNIK_ENST00000284483.8_Silent_p.G156G|TNIK_ENST00000369326.5_Silent_p.G156G NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 156 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) AGACATTTTGCCCTTTAATAT 0.418000 5 16 0 0 0.001168 0 0 SIN3A 25942 broad.mit.edu 37 15 75664325 75664325 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:75664325G>T ENST00000394947.3 - 21 4131 c.3817C>A c.(3817-3819)Cct>Act p.P1273T SIN3A_ENST00000360439.4_Missense_Mutation_p.P1273T|SIN3A_ENST00000394949.4_Missense_Mutation_p.P1273T NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 1273 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TGCAGTTAAGGGGCTTTGAAT 0.498000 21 35 1.10513e-12 2.31233e-12 0.002299 1 0 CSHL1 1444 broad.mit.edu 37 17 61987797 61987797 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:61987797C>T ENST00000450719.3 - 2 244 c.7G>A c.(7-9)Gaa>Aaa p.E3K CSHL1_ENST00000346606.6_Missense_Mutation_p.E3K|CSHL1_ENST00000561003.1_Missense_Mutation_p.E14K|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Missense_Mutation_p.E14K|CSHL1_ENST00000392824.4_Silent_p.R166R|CSHL1_ENST00000309894.5_Missense_Mutation_p.E97K|CSHL1_ENST00000259003.10_Missense_Mutation_p.E35K Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 97 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 TGCTGCGTTTCCTCCATGTTG 0.557000 57 76 0 0 0.003610 0 0 MSL3P1 151507 broad.mit.edu 37 2 234774899 234774899 + RNA SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:234774899T>C ENST00000438684.1 - 0 1215 NR_024322.1 TCAAAGTGCTTCAATAAAGCC 0.428000 13 52 0 0 0.002450 0 0 LPHN2 23266 broad.mit.edu 37 1 82431863 82431863 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:82431863G>A ENST00000370728.1 + 14 2772 c.2127G>A c.(2125-2127)agG>agA p.R709R LPHN2_ENST00000319517.6_Silent_p.R696R|LPHN2_ENST00000370727.1_Silent_p.R709R|LPHN2_ENST00000370723.1_Silent_p.R696R|LPHN2_ENST00000359929.3_Silent_p.R696R|LPHN2_ENST00000370730.1_Silent_p.R709R|LPHN2_ENST00000370721.1_Silent_p.R634R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Silent_p.R709R|LPHN2_ENST00000370717.2_Silent_p.R709R|LPHN2_ENST00000271029.4_Silent_p.R709R|LPHN2_ENST00000370725.1_Silent_p.R709R|LPHN2_ENST00000370715.1_Silent_p.R696R|LPHN2_ENST00000370713.1_Silent_p.R696R|LPHN2_ENST00000394879.1_Silent_p.R696R O95490 LPHN2_HUMAN latrophilin 2 709 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGAACAGCAGGAATGGTAAGG 0.363000 17 28 0 0 0.004007 0 0 CRP 1401 broad.mit.edu 37 1 159683763 159683763 + Missense_Mutation SNP C C T rs151273324 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:159683763C>T ENST00000255030.5 - 2 330 c.227G>A c.(226-228)aGa>aAa p.R76K CRP_ENST00000368111.1_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000437342.1_Splice_Site NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 76 Pentaxin. YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671). acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) ATTGTCTTGTCTCTTGGTGGC 0.448000 72 65 0 0 0.003610 0 0 RFX4 5992 broad.mit.edu 37 12 106995101 106995101 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:106995101G>A ENST00000357881.4 + 1 187 c.47G>A c.(46-48)aGg>aAg p.R16K RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000392842.1_Intron NM_001206691.1 NP_001193620.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 0 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GACAGGACCAGGCCTCGACGG 0.672000 3 5 0 0 0.004672 0 0 F12 2161 broad.mit.edu 37 5 176829663 176829663 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:176829663T>C ENST00000253496.3 - 13 1616 c.1568A>G c.(1567-1569)cAg>cGg p.Q523R F12_ENST00000514943.1_5'UTR NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 523 Peptidase S1. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAACGGTACCTGCGCCTCCTG 0.662000 Hereditary Angioedema 11 14 0 0 0.001368 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135721177 135721177 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:135721177G>A ENST00000264977.3 + 2 1454 c.837G>A c.(835-837)atG>atA p.M279I PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 279 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTGTCTATATGAATGTAATGA 0.358000 7 17 0 0 0.000443 0 0 COL5A3 50509 broad.mit.edu 37 19 10099813 10099813 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:10099813G>A ENST00000264828.3 - 27 2217 c.2132C>T c.(2131-2133)cCt>cTt p.P711L NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 711 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) CACTCCCCGAGGTCCAGGATA 0.542000 36 37 0 0 0.002852 0 0 SUCO 51430 broad.mit.edu 37 1 172501763 172501763 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:172501763G>A ENST00000367723.3 + 1 275 c.151G>A c.(151-153)Gaa>Aaa p.E51K NM_016227.2 NP_057311.2 SUN domain containing ossification factor CTCAAAAGAGGAAAACAGTGC 0.493000 24 36 0 0 0.003330 0 0 LILRA3 11026 broad.mit.edu 37 19 54803096 54803096 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54803096G>A ENST00000391745.1 - 8 948 c.632C>T c.(631-633)tCg>tTg p.S211L LILRA3_ENST00000251390.3_Missense_Mutation_p.S194L|LILRA3_ENST00000391744.3_Intron leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCACCTGTACGACCACCTGCG 0.587000 21 57 0 0 0.001523 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866233 140866233 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140866233G>A ENST00000306593.1 + 1 1493 c.1493G>A c.(1492-1494)aGg>aAg p.R498K PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGAGCCCAGGAATCGAGAT 0.532000 30 107 0 0 0.001786 0 0 SLC9C1 285335 broad.mit.edu 37 3 111927047 111927047 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:111927047T>A ENST00000305815.5 - 16 2216 c.1964A>T c.(1963-1965)tAt>tTt p.Y655F SLC9C1_ENST00000487372.1_Missense_Mutation_p.Y607F NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 655 Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CTCTAGAATATAAAGTGTAAG 0.323000 45 109 0 0 0.003610 0 0 TMX4 56255 broad.mit.edu 37 20 7980462 7980462 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:7980462G>A ENST00000246024.2 - 4 599 c.384C>T c.(382-384)ttC>ttT p.F128F TMX4_ENST00000530935.1_5'UTR NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 128 Thioredoxin. cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 GCAGGTCTTCGAAGATTCCTG 0.398000 8 22 0 0 0.004482 0 0 ARMCX5 64860 broad.mit.edu 37 X 101858321 101858321 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:101858321G>A ENST00000604957.1 + 1 3874 c.1252G>A c.(1252-1254)Ggg>Agg p.G418R ARMCX5_ENST00000536530.1_Missense_Mutation_p.G418R|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G418R|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G418R|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G418R|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G418R NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 418 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 GAAATTACTAGGGCACTTGAG 0.388000 18 11 0 0 0.000958 0 0 ZNF592 9640 broad.mit.edu 37 15 85326475 85326475 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:85326475C>T ENST00000299927.3 + 1 591 c.569C>T c.(568-570)cCg>cTg p.P190L ZNF592_ENST00000560079.2_Missense_Mutation_p.P190L Q92610 ZN592_HUMAN zinc finger protein 592 190 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCTAAGTTTCCGGTTCCAGAG 0.547000 51 87 0 0 0.003610 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65349981 65349981 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:65349981G>A ENST00000284037.5 + 21 3224 c.2835G>A c.(2833-2835)aaG>aaA p.K945K ERBB2IP_ENST00000380936.1_Silent_p.K945K|ERBB2IP_ENST00000508515.1_Silent_p.K945K|ERBB2IP_ENST00000380938.2_Silent_p.K945K|ERBB2IP_ENST00000380943.2_Silent_p.K945K|ERBB2IP_ENST00000506030.1_Silent_p.K945K|ERBB2IP_ENST00000380939.2_Silent_p.K945K|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Silent_p.K941K|ERBB2IP_ENST00000380935.1_Silent_p.K945K NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 945 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CAATTTTCAAGTTTGATTCAA 0.398000 20 28 0 0 0.000958 0 0 SLX4IP 128710 broad.mit.edu 37 20 10603430 10603430 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:10603430T>C ENST00000334534.5 + 8 810 c.630T>C c.(628-630)gcT>gcC p.A210A NM_001009608.1 NP_001009608.1 SLX4 interacting protein ATGGTCAGGCTTCCTCCAGTC 0.498000 25 41 0 0 0.001061 0 0 GINS4 84296 broad.mit.edu 37 8 41394708 41394708 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:41394708C>T ENST00000523277.2 + 4 360 c.193C>T c.(193-195)Ctc>Ttc p.L65F GINS4_ENST00000520710.1_Missense_Mutation_p.L65F|RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000518671.1_Missense_Mutation_p.L65F|GINS4_ENST00000276533.3_Missense_Mutation_p.L65F Q9BRT9 SLD5_HUMAN GINS complex subunit 4 (Sld5 homolog) 65 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm breast(1)|lung(2)|skin(1) 4 Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147) GGAAGAAAATCTCAGGAGAGC 0.458000 10 18 0 0 0.000978 0 0 CSMD2 114784 broad.mit.edu 37 1 34080165 34080165 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:34080165G>A ENST00000373381.4 - 40 6248 c.6072C>T c.(6070-6072)ttC>ttT p.F2024F CSMD2_ENST00000373380.1_Silent_p.F897F|CSMD2_ENST00000373377.1_Silent_p.F123F|CSMD2_ENST00000373388.2_Silent_p.F123F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1984 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGTTGCCTGGGAAGCCGGGGC 0.577000 10 23 0 0 0.000978 0 0 CTNNA2 1496 broad.mit.edu 37 2 80085165 80085165 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:80085165G>A ENST00000466387.1 + 8 1049 c.325G>A c.(325-327)Gag>Aag p.E109K CTNNA2_ENST00000496558.1_Missense_Mutation_p.E109K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E109K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E109K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E143K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E109K P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 109 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CGCCTCCTCCGAGTTTGCAGA 0.582000 37 60 0 0 0.002222 0 0 SBF1 6305 broad.mit.edu 37 22 50901026 50901026 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:50901026G>A ENST00000380817.2 - 18 2272 c.2089C>T c.(2089-2091)Ctc>Ttc p.L697F SBF1_ENST00000348911.6_Missense_Mutation_p.L698F|SBF1_ENST00000390679.3_Missense_Mutation_p.L697F NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 697 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TCCAGGTAGAGGGCCCGGATG 0.687000 10 7 0 0 0.000673 0 0 SERPINI1 5274 broad.mit.edu 37 3 167510533 167510533 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:167510533C>T ENST00000295777.5 + 4 1068 c.637C>T c.(637-639)Caa>Taa p.Q213* SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.Q213* NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 213 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 AAGTGAAGTCCAAATTCCAAT 0.338000 17 50 0 0 0.002780 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799816 159799816 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:159799816C>T ENST00000289707.5 + 2 350 c.201C>T c.(199-201)tcC>tcT p.S67S SLAMF8_ENST00000368104.4_Intron|SLAMF8_ENST00000471286.1_3'UTR NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 67 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) TCCGAGGCTCCCTGGAGACTC 0.632000 35 186 0 0 0.005524 0 0 OTOA 146183 broad.mit.edu 37 16 21693134 21693134 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:21693134C>T ENST00000388958.3 + 5 256 c.255C>T c.(253-255)atC>atT p.I85I OTOA_ENST00000286149.4_Silent_p.I85I NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 85 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) CCTTCACCATCCCCAGCCTGC 0.537000 18 29 0 0 0.001523 0 0 GALK1 2584 broad.mit.edu 37 17 73759118 73759118 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:73759118G>A ENST00000588479.1 - 4 1162 c.588C>T c.(586-588)ggC>ggT p.G196G GALK1_ENST00000437911.1_Silent_p.G226G|GALK1_ENST00000225614.2_Silent_p.G196G P51570 GALK1_HUMAN galactokinase 1 196 galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 5 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCAGCGCGTGGCCTTTCTGTC 0.652000 24 42 0 0 0.003954 0 0 ESPNL 339768 broad.mit.edu 37 2 239039894 239039894 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:239039894C>T ENST00000343063.3 + 9 2802 c.2539C>T c.(2539-2541)Ccg>Tcg p.P847S ESPNL_ENST00000409169.1_Missense_Mutation_p.P803S|ESPNL_ENST00000409506.1_Missense_Mutation_p.P479S|ESPNL_ENST00000477241.1_3'UTR NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 847 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GGACGGGGCTCCGGTGCCCTA 0.697000 3 3 0 0 0.004672 0 0 KANK4 163782 broad.mit.edu 37 1 62740018 62740018 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:62740018G>A ENST00000371153.4 - 3 1136 c.758C>T c.(757-759)tCa>tTa p.S253L KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 253 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 ATTCTGGAATGAGAAAGGAGG 0.557000 14 34 0 0 0.002450 0 0 DNAH8 1769 broad.mit.edu 37 6 38816444 38816444 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:38816444A>T ENST00000359357.3 + 35 4669 c.4415A>T c.(4414-4416)aAa>aTa p.K1472I DNAH8_ENST00000441566.1_Missense_Mutation_p.K1472I|DNAH8_ENST00000449981.2_Missense_Mutation_p.K1689I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CCATTTAAAAAAAATATCCAG 0.343000 4 17 0 0 0.000602 0 0 FAN1 22909 broad.mit.edu 37 15 31202912 31202912 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:31202912G>A ENST00000362065.4 + 4 1762 c.1471G>A c.(1471-1473)Gga>Aga p.G491R FAN1_ENST00000565466.1_Missense_Mutation_p.G491R|FAN1_ENST00000561594.1_Missense_Mutation_p.G491R|FAN1_ENST00000561607.1_Missense_Mutation_p.G491R NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 491 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 GAATCCCAATGGACAGAAACA 0.468000 Direct reversal of damage 17 70 0 0 0.004990 0 0 SPDL1 54908 broad.mit.edu 37 5 169026118 169026118 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:169026118C>T ENST00000265295.4 + 10 1558 c.1279C>T c.(1279-1281)Ctg>Ttg p.L427L NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 AAATATGAAACTGAGAGCTAA 0.313000 13 42 0 0 0.004007 0 0 RXFP2 122042 broad.mit.edu 37 13 32366846 32366846 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:32366846C>T ENST00000298386.2 + 16 1478 c.1407C>T c.(1405-1407)ttC>ttT p.F469F RXFP2_ENST00000380314.1_Silent_p.F445F NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 469 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTTACTTGTTCTTTGTTGGCA 0.453000 13 82 0 0 0.004007 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74206606 74206606 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:74206606G>A ENST00000286523.5 - 2 888 c.106C>T c.(106-108)Cag>Tag p.Q36* ELMSAN1_ENST00000394071.2_Nonsense_Mutation_p.Q36* NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 ATGGACTGCTGGGGGGGCTGC 0.667000 38 31 0 0 0.001485 0 0 ZNF239 8187 broad.mit.edu 37 10 44052780 44052780 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:44052780G>A ENST00000306006.6 - 2 1400 c.748C>T c.(748-750)Ctg>Ttg p.L250L ZNF239_ENST00000426961.1_Silent_p.L250L|ZNF239_ENST00000535642.1_Silent_p.L250L|ZNF239_ENST00000374446.2_Silent_p.L250L NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGGATAAGCAGACTCGAGCTC 0.488000 28 59 0 0 0.001271 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248880 140248880 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140248880C>T ENST00000398640.2 + 1 192 c.192C>T c.(190-192)ttC>ttT p.F64F PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_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) AGCGCCTGTTCCGGGTGGCGT 0.617000 21 113 0 0 0.002299 0 0 KHDC3L 154288 broad.mit.edu 37 6 74072857 74072857 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:74072857C>T ENST00000370367.3 + 2 262 c.209C>T c.(208-210)tCc>tTc p.S70F NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member CAGGGTATGTCCCAAATCTTG 0.592000 47 45 0 0 0.003610 0 0 APOB 338 broad.mit.edu 37 2 21225679 21225679 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:21225679C>T ENST00000233242.1 - 29 12742 c.12615G>A c.(12613-12615)ccG>ccA p.P4205P NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4205 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAGGTTTCCCCGGAAACTGGA 0.433000 82 77 0 0 0.003610 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716537 39716537 + Missense_Mutation SNP T T G rs144276859 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:39716537T>G ENST00000553728.1 + 4 972 c.759T>G c.(757-759)agT>agG p.S253R MIA2_ENST00000556784.1_Missense_Mutation_p.S252R|MIA2_ENST00000280082.3_Missense_Mutation_p.S253R CATTTCGGAGTAGAAAAATAG 0.388000 7 39 0 0 0.001984 0 0 PCBP3 54039 broad.mit.edu 37 21 47359986 47359986 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:47359986G>A ENST00000400314.1 + 15 1290 c.952G>A c.(952-954)Gaa>Aaa p.E318K PCBP3_ENST00000400308.1_Missense_Mutation_p.E292K|PCBP3_ENST00000400309.1_Missense_Mutation_p.E317K|PCBP3_ENST00000400310.1_Missense_Mutation_p.E298K|PCBP3_ENST00000449640.1_Missense_Mutation_p.E318K|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.E308K P57721 PCBP3_HUMAN poly(rC) binding protein 3 318 KH 3. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CAAAATCAATGAAATTCGACA 0.527000 11 42 0 0 0.001368 0 0 FAM122C 159091 broad.mit.edu 37 X 133941576 133941576 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:133941576C>T ENST00000414371.2 + 3 229 c.56C>T c.(55-57)tCc>tTc p.S19F FAM122C_ENST00000370785.3_5'UTR|FAM122C_ENST00000475361.1_3'UTR|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370784.4_5'UTR NM_001170780.1|NM_001170784.1 NP_001164251.1|NP_001164255.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C 0 endometrium(2)|kidney(1)|lung(2) 5 Acute lymphoblastic leukemia(192;0.000127) GTAGACTTGTCCTTGTGTGGA 0.522000 32 19 0 0 0.002836 0 0 ATP5O 539 broad.mit.edu 37 21 35275880 35275880 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:35275880C>A ENST00000290299.2 - 7 808 c.592G>T c.(592-594)Gtc>Ttc p.V198F AP000304.12_ENST00000429238.1_Intron NM_001697.2 NP_001688.1 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 5 TTGGTCTTGACAGACATGTCA 0.433000 13 35 9.16793e-09 1.90814e-08 0.004990 1 0 HTT 3064 broad.mit.edu 37 4 3123107 3123107 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:3123107T>C ENST00000355072.5 + 9 1366 c.1221T>C c.(1219-1221)gcT>gcC p.A407A NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 407 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TCACCGCTGCTAAGGAGGAGT 0.542000 24 73 0 0 0.001061 0 0 SNRNP40 9410 broad.mit.edu 37 1 31742085 31742085 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:31742085G>A ENST00000263694.4 - 7 796 c.778C>T c.(778-780)Cgt>Tgt p.R260C SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Missense_Mutation_p.R260C|SNRNP40_ENST00000373720.3_Missense_Mutation_p.R30C NM_004814.2 NP_004805.2 Q96DI7 SNR40_HUMAN small nuclear ribonucleoprotein 40kDa (U5) 260 catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 TCCCAGACACGAACTGCAAAA 0.448000 40 82 0 0 0.002222 0 0 CACTIN 58509 broad.mit.edu 37 19 3623989 3623989 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:3623989G>A ENST00000429344.2 - 2 391 c.339C>T c.(337-339)tcC>tcT p.S113S CACTIN_ENST00000248420.5_Silent_p.S113S|CACTIN_ENST00000221899.3_Silent_p.S45S NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit TGGATGCTGAGGAGCTAGGAG 0.711000 4 13 0 0 0.000248 0 0 GLRX3 10539 broad.mit.edu 37 10 131959077 131959077 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:131959077C>T ENST00000368644.1 + 4 316 c.294C>T c.(292-294)gaC>gaT p.D98D GLRX3_ENST00000331244.5_Silent_p.D98D NM_001199868.1 NP_001186797.1 O76003 GLRX3_HUMAN glutaredoxin 3 98 Thioredoxin. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) AGAAAATCGACCGATTAGATG 0.378000 11 37 0 0 0.000978 0 0 PADI2 11240 broad.mit.edu 37 1 17395573 17395573 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:17395573G>A ENST00000375486.4 - 16 2027 c.1964C>T c.(1963-1965)cCc>cTc p.P655L PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.P539L NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 655 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) GAAGGTGAAGGGCTTCCTGCG 0.602000 6 65 0 0 0.001984 0 0 C3 718 broad.mit.edu 37 19 6679196 6679196 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:6679196C>T ENST00000245907.6 - 38 4662 c.4570G>A c.(4570-4572)Gat>Aat p.D1524N C3_ENST00000599668.1_5'UTR NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1524 NTR. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ACCTTGTCATCCGACTTTTGT 0.572000 4 36 0 0 0.000248 0 0 PPEF2 5470 broad.mit.edu 37 4 76797736 76797736 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:76797736C>T ENST00000286719.7 - 11 1380 c.1024G>A c.(1024-1026)Gga>Aga p.G342R NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 342 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GGGATGGGTCCCTGTGCAGAG 0.542000 18 19 0 0 0.000958 0 0 WNT2 7472 broad.mit.edu 37 7 116937720 116937720 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:116937720C>T ENST00000265441.3 - 4 1098 c.799G>A c.(799-801)Gac>Aac p.D267N NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 267 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TACACGAGGTCATTTTTCGTT 0.438000 28 67 0 0 0.001786 0 0 WDR75 84128 broad.mit.edu 37 2 190334817 190334817 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:190334817C>T ENST00000314761.4 + 17 1895 c.1835C>T c.(1834-1836)cCt>cTt p.P612L NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 612 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) GTATTTAAACCTAGTGAGCCA 0.423000 15 48 0 0 0.004007 0 0 NUP210L 91181 broad.mit.edu 37 1 153995689 153995689 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:153995689C>T ENST00000368559.3 - 31 4278 c.4207G>A c.(4207-4209)Ggc>Agc p.G1403S NUP210L_ENST00000271854.3_Missense_Mutation_p.G1403S|NUP210L_ENST00000368553.1_Missense_Mutation_p.G336S NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1403 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGAGACATGCCCAAGGGAAAT 0.483000 33 102 0 0 0.003755 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620279 144620279 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:144620279G>A ENST00000262577.5 - 2 1289 c.1258C>T c.(1258-1260)Cca>Tca p.P420S NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 420 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCTACTGCTGGTCTGTCCCCC 0.627000 17 47 0 0 0.000958 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004369 101004369 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:101004369G>A ENST00000556751.1 - 5 4931 c.1527C>T c.(1525-1527)ggC>ggT p.G509G BEGAIN_ENST00000355173.2_Silent_p.G573G|BEGAIN_ENST00000443071.2_Silent_p.G573G Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 573 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) TCAGCCCCGAGCCACCAGTCC 0.687000 6 5 0 0 0.001984 0 0 NF1 4763 broad.mit.edu 37 17 29665053 29665053 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:29665053C>T ENST00000358273.4 + 45 7098 c.6715C>T c.(6715-6717)Caa>Taa p.Q2239* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q2218*|NF1_ENST00000444181.2_Nonsense_Mutation_p.Q32*|NF1_ENST00000417592.2_Intron NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2239 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATTTGCATTCCAATATAATCC 0.328000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 47 31 0 0 0.003214 0 0 URB2 9816 broad.mit.edu 37 1 229772297 229772297 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:229772297C>T ENST00000258243.2 + 4 2073 c.1937C>T c.(1936-1938)tCg>tTg p.S646L NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 646 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 AACCTCCCTTCGTTGCTCCCA 0.478000 82 287 0 0 0.003610 0 0 IGSF9 57549 broad.mit.edu 37 1 159897575 159897575 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:159897575G>A ENST00000368094.1 - 20 3530 c.3333C>T c.(3331-3333)ctC>ctT p.L1111L IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.L1095L NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 1111 cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTCAGGTCTGAGCCGGGAGC 0.592000 29 81 0 0 0.001061 0 0 SMYD5 10322 broad.mit.edu 37 2 73449921 73449921 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:73449921C>T ENST00000389501.4 + 7 726 c.681C>T c.(679-681)gcC>gcT p.A227A NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 227 metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 TCACAGAGGCCCTCTATGAGG 0.557000 4 23 0 0 0.000602 0 0 VSTM4 196740 broad.mit.edu 37 10 50315832 50315832 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:50315832C>T ENST00000332853.3 - 2 287 c.264G>A c.(262-264)ggG>ggA p.G88G VSTM4_ENST00000298454.3_Silent_p.G88G NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 88 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GGCTGAAATTCCCATAGTACT 0.627000 14 38 0 0 0.003163 0 0 OR2V2 285659 broad.mit.edu 37 5 180582567 180582567 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:180582567C>T ENST00000328275.1 + 1 625 c.625C>T c.(625-627)Ctc>Ttc p.L209F NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTCATGCTTCTCTTCCCATT 0.498000 23 145 0 0 0.003954 0 0 TOX2 84969 broad.mit.edu 37 20 42682973 42682973 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:42682973G>A ENST00000358131.5 + 5 921 c.713G>A c.(712-714)gGa>gAa p.G238E TOX2_ENST00000423191.1_Missense_Mutation_p.G187E|TOX2_ENST00000372999.1_Missense_Mutation_p.G187E|TOX2_ENST00000341197.3_Missense_Mutation_p.G229E|TOX2_ENST00000435864.2_Missense_Mutation_p.G107E NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GCCGACCCAGGAAAAAAGGCC 0.537000 9 14 0 0 0.000978 0 0 GPR116 221395 broad.mit.edu 37 6 46827023 46827023 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:46827023G>A ENST00000283296.7 - 17 2905 c.2617C>T c.(2617-2619)Cca>Tca p.P873S GPR116_ENST00000362015.4_Missense_Mutation_p.P873S|GPR116_ENST00000545669.1_Missense_Mutation_p.P302S|GPR116_ENST00000265417.7_Missense_Mutation_p.P873S|GPR116_ENST00000456426.2_Missense_Mutation_p.P731S NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 873 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P873S(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TCAAAGTATGGGAAAACAAAC 0.463000 15 44 0 0 0.004007 0 0 ZNF366 167465 broad.mit.edu 37 5 71752399 71752399 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:71752399C>T ENST00000318442.5 - 3 1846 c.1356G>A c.(1354-1356)ggG>ggA p.G452G NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GCCCACAAATCCCACACTTAT 0.517000 12 79 0 0 0.000978 0 0 ADH1B 125 broad.mit.edu 37 4 100237445 100237445 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:100237445G>A ENST00000305046.8 - 4 341 c.274C>T c.(274-276)Ccg>Tcg p.P92S ADH1B_ENST00000394887.3_Missense_Mutation_p.P52S P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 92 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GTAAAGAGCGGGATGACTTTA 0.373000 12 13 0 0 0.002450 0 0 CEP350 9857 broad.mit.edu 37 1 180063583 180063583 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:180063583C>T ENST00000367607.3 + 34 8761 c.8343C>T c.(8341-8343)atC>atT p.I2781I CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2781 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 ATGAGAAAATCCAGCTTAGCA 0.388000 27 20 0 0 0.001061 0 0 CABIN1 23523 broad.mit.edu 37 22 24563146 24563146 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:24563146C>T ENST00000398319.2 + 32 5932 c.5547C>T c.(5545-5547)ctC>ctT p.L1849L CABIN1_ENST00000337989.7_Silent_p.L274L|CABIN1_ENST00000263119.5_Silent_p.L1849L|CABIN1_ENST00000405822.2_Silent_p.L1770L NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1849 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGAGGAAGCTCCTGGAGGACA 0.692000 12 20 0 0 0.001855 0 0 PDE10A 10846 broad.mit.edu 37 6 165957014 165957014 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:165957014G>A ENST00000366882.1 - 3 234 c.80C>T c.(79-81)cCc>cTc p.P27L PDE10A_ENST00000354448.4_Missense_Mutation_p.P27L|PDE10A_ENST00000539869.2_Missense_Mutation_p.P37L Q9Y233 PDE10_HUMAN phosphodiesterase 10A 27 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TAATACCTGGGGGTGAAGAGA 0.353000 22 38 0 0 0.001882 0 0 PTPRT 11122 broad.mit.edu 37 20 40747085 40747085 + Silent SNP G G A rs34284587 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:40747085G>A ENST00000373198.3 - 22 3241 c.3006C>T c.(3004-3006)tcC>tcT p.S1002S PTPRT_ENST00000373184.1_Silent_p.S970S|PTPRT_ENST00000373187.1_Silent_p.S980S|PTPRT_ENST00000373190.1_Silent_p.S979S|PTPRT_ENST00000356100.2_Silent_p.S989S|PTPRT_ENST00000373193.3_Silent_p.S983S|PTPRT_ENST00000373201.1_Silent_p.S970S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 980 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.S1002S(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CGATGCTGGCGGAGTTCTCCT 0.537000 33 55 0 0 0.001706 0 0 GRM7 2917 broad.mit.edu 37 3 7721852 7721852 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:7721852C>T ENST00000486284.1 + 9 2842 c.2568C>T c.(2566-2568)gtC>gtT p.V856V GRM7_ENST00000403881.1_Silent_p.V856V|GRM7_ENST00000402647.2_Silent_p.V856V|GRM7_ENST00000389336.4_Silent_p.V856V|GRM7_ENST00000357716.4_Silent_p.V856V NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 856 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AACTCAATGTCCAGAAACGGA 0.512000 20 35 0 0 0.002299 0 0 GZMA 3001 broad.mit.edu 37 5 54403633 54403633 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:54403633C>T ENST00000274306.6 + 3 262 c.227C>T c.(226-228)tCc>tTc p.S76F NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 76 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) AACAAAAGGTCCCAGGTCATT 0.403000 13 23 0 0 0.003163 0 0 TCHH 7062 broad.mit.edu 37 1 152082159 152082159 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:152082159C>T ENST00000368804.1 - 2 3533 c.3534G>A c.(3532-3534)caG>caA p.Q1178Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1178 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) gctcttcctcctgctgcagct 0.602000 16 21 0 0 0.004990 0 0 OR2M5 127059 broad.mit.edu 37 1 248308997 248308997 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:248308997C>T ENST00000366476.1 + 1 548 c.548C>T c.(547-549)tCc>tTc p.S183F NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 183 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) GACTTCCCTTCCCTACTAATC 0.418000 25 137 0 0 0.003330 0 0 FZD4 8322 broad.mit.edu 37 11 86666029 86666029 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:86666029C>T ENST00000531380.1 - 1 404 c.99G>A c.(97-99)ccG>ccA p.P33P NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 33 P -> S (in EVR1). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGCCCCGCGCCGGCCCCAGGA 0.716000 10 26 0 0 0.002450 0 0 ESYT3 83850 broad.mit.edu 37 3 138184241 138184241 + Missense_Mutation SNP G G A rs146734321 by1000genomes TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:138184241G>A ENST00000389567.4 + 10 1333 c.1147G>A c.(1147-1149)Gac>Aac p.D383N NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 383 C2 1. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 TGAGGATACCGACAGGGATGA 0.592000 67 129 0 0 0.003610 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485076 97485076 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:97485076A>G ENST00000376705.2 + 2 1064 c.1040A>G c.(1039-1041)aAc>aGc p.N347S NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 347 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) AACCTGAAGAACATGGCCTTC 0.473000 6 61 0 0 0.001168 0 0 RNF212 285498 broad.mit.edu 37 4 1090587 1090587 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:1090587C>T ENST00000382968.5 - 3 309 c.212G>A c.(211-213)aGt>aAt p.S71N RNF212_ENST00000433731.2_Missense_Mutation_p.S71N|RNF212_ENST00000333673.5_Missense_Mutation_p.S71N NM_001131034.3|NM_194439.4 NP_001124506.1|NP_919420.1 Q495C1 RN212_HUMAN ring finger protein 212 71 zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(23;0.0179) UCEC - Uterine corpus endometrioid carcinoma (64;0.151) CTTACACAGACTGTCTATGCT 0.502000 78 398 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9082925 9082925 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9082925C>T ENST00000397910.4 - 1 9093 c.8890G>A c.(8890-8892)Gga>Aga p.G2964R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2965 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 GAGGCAGATCCCTCAGGGGTT 0.502000 38 55 0 0 0.005524 0 0 OR51M1 390059 broad.mit.edu 37 11 5410645 5410645 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:5410645C>T ENST00000328611.3 + 1 39 c.17C>T c.(16-18)tCg>tTg p.S6L HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 6 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCCAATATTCGCTCAGTCCT 0.403000 29 121 0 0 0.003271 0 0 TTN 7273 broad.mit.edu 37 2 179579257 179579257 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179579257G>A ENST00000589042.1 - 91 26468 c.26244C>T c.(26242-26244)gtC>gtT p.V8748V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V8431V|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V7504V|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8431 Ig-like 70. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V7504V(1) 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) CTTTACCAACGACAGTAGATA 0.423000 4 10 0 0 0.000248 0 0 HIF3A 64344 broad.mit.edu 37 19 46825223 46825223 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:46825223G>A ENST00000339613.2 + 10 1422 c.1167_splice c.e10+1 p.S389_splice HIF3A_ENST00000377670.4_Splice_Site_p.S445_splice|HIF3A_ENST00000600383.1_Splice_Site_p.S376_splice|HIF3A_ENST00000472815.1_Splice_Site_p.S376_splice|HIF3A_ENST00000300862.3_Splice_Site_p.S443_splice|HIF3A_ENST00000420102.2_Splice_Site_p.S394_splice|HIF3A_ENST00000244303.6_Splice_Site_p.S376_splice|AC007193.10_ENST00000596807.1_RNA Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GTCCTCTTTCGGTAAGCCATC 0.622000 8 18 0 0 0.000443 0 0 DGAT2 84649 broad.mit.edu 37 11 75508276 75508276 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:75508276C>T ENST00000228027.7 + 6 968 c.708C>T c.(706-708)atC>atT p.I236I DGAT2_ENST00000376262.3_Silent_p.I193I NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 236 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) CTATCATCATCGTGGTCGGGG 0.567000 37 47 0 0 0.004878 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095318 107095318 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:107095318G>A ENST00000390630.2 - 0 262 TCCAGCTCCAGTAGTAACCAC 0.597000 24 23 0 0 0.003954 0 0 HADHB 3032 broad.mit.edu 37 2 26501657 26501657 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:26501657C>T ENST00000317799.5 + 8 722 c.618C>T c.(616-618)ttC>ttT p.F206F HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Silent_p.F184F|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000537713.1_Silent_p.F191F NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 206 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATTTAATTTCCTAGCACCTG 0.428000 32 26 0 0 0.003271 0 0 CD207 50489 broad.mit.edu 37 2 71060970 71060970 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:71060970C>T ENST00000410009.3 - 3 417 c.372G>A c.(370-372)ctG>ctA p.L124L NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 124 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 TTTTTAACTTCAGGAACTGAG 0.448000 28 22 0 0 0.001512 0 0 KRI1 65095 broad.mit.edu 37 19 10664854 10664854 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:10664854G>A ENST00000312962.6 - 19 1922 c.1903C>T c.(1903-1905)Ccc>Tcc p.P635S KRI1_ENST00000361821.5_Missense_Mutation_p.P631S NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 635 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TGTGCTGGGGGACTCTCCGGC 0.647000 20 69 0 0 0.001523 0 0 TENM2 57451 broad.mit.edu 37 5 167643915 167643915 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:167643915G>A ENST00000519204.1 + 21 3976 c.3858G>A c.(3856-3858)atG>atA p.M1286I TENM2_ENST00000545108.1_Missense_Mutation_p.M1406I|TENM2_ENST00000518659.1_Missense_Mutation_p.M1407I|TENM2_ENST00000403607.2_Missense_Mutation_p.M1231I|TENM2_ENST00000520394.1_Missense_Mutation_p.M1168I teneurin transmembrane protein 2 ATTCCAGCATGGATGTAGCCC 0.532000 36 45 0 0 0.002222 0 0 LRP12 29967 broad.mit.edu 37 8 105503244 105503244 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:105503244C>T ENST00000276654.5 - 7 2345 c.2237G>A c.(2236-2238)cGa>cAa p.R746Q LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R727Q NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 746 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GGAACTTGATCGTCCTAATGT 0.458000 17 48 0 0 0.001882 0 0 DHX34 9704 broad.mit.edu 37 19 47882968 47882968 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:47882968C>T ENST00000328771.4 + 14 3057 c.2706_splice c.e14-1 p.S903_splice NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 903 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CTCTTTCAGTCCCTCCTGCTT 0.642000 13 81 0 0 0.002450 0 0 SNHG16 100507246 broad.mit.edu 37 17 74557741 74557741 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:74557741C>T ENST00000364968.1 + 0 26 TTAGTTATCCCTGTCTGAAAA 0.363000 38 72 0 0 0.002522 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564472 46564472 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:46564472C>T ENST00000458649.2 - 7 1513 c.1095G>A c.(1093-1095)ctG>ctA p.L365L AMBRA1_ENST00000534300.1_Silent_p.L365L|AMBRA1_ENST00000533727.1_Silent_p.L275L|AMBRA1_ENST00000298834.3_Silent_p.L365L|AMBRA1_ENST00000314845.3_Silent_p.L275L|AMBRA1_ENST00000426438.1_Silent_p.L365L|AMBRA1_ENST00000528950.1_Silent_p.L365L Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 365 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) ACGGCCGGTTCAGGAGGCCCT 0.627000 36 109 0 0 0.002852 0 0 KIAA1804 84451 broad.mit.edu 37 1 233515271 233515271 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:233515271C>T ENST00000366624.3 + 9 2780 c.2519C>T c.(2518-2520)cCc>cTc p.P840L MLK4_ENST00000366622.1_Missense_Mutation_p.P286L NM_032435.2 NP_115811.2 GATTTTTGTCCCACTGCCCCA 0.517000 19 71 0 0 0.003330 0 0 NOS1 4842 broad.mit.edu 37 12 117672437 117672437 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:117672437C>T ENST00000317775.6 - 21 3853 c.3168G>A c.(3166-3168)ctG>ctA p.L1056L NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L1090L NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1056 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCGCGTCCTCCAGCCGCTCGA 0.622000 8 41 0 0 0.004482 0 0 COL28A1 340267 broad.mit.edu 37 7 7530255 7530255 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:7530255G>A ENST00000399429.3 - 12 1189 c.1049C>T c.(1048-1050)cCt>cTt p.P350L NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 350 Collagen-like 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) AGAACCATAAGGACCAGGAGG 0.433000 6 20 0 0 0.003080 0 0 BACH1 571 broad.mit.edu 37 21 30693685 30693685 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:30693685G>A ENST00000399921.1 + 2 327 c.84G>A c.(82-84)cgG>cgA p.R28R BACH1_ENST00000286800.3_Silent_p.R28R NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 28 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 ATGACCAGCGGAAGAAAGATG 0.493000 26 62 0 0 0.001271 0 0 PABPC4 8761 broad.mit.edu 37 1 40036968 40036968 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:40036968G>A ENST00000372857.3 - 3 1233 c.441C>T c.(439-441)acC>acT p.T147T RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Silent_p.T147T|PABPC4_ENST00000372858.3_Silent_p.T147T|PABPC4_ENST00000372862.3_Silent_p.T147T NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 147 RRM 2. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAGCCTCTTGGGTCTCGAAGT 0.542000 69 118 0 0 0.003610 0 0 ATXN1 6310 broad.mit.edu 37 6 16327052 16327052 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:16327052G>A ENST00000244769.4 - 8 2426 c.1490C>T c.(1489-1491)aCt>aTt p.T497I ATXN1_ENST00000436367.1_Missense_Mutation_p.T497I NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 497 Self-association. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TTCCATGTCAGTGCTGCCGAC 0.662000 70 77 0 0 0.003610 0 0 IKBKE 9641 broad.mit.edu 37 1 206651542 206651542 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:206651542C>T ENST00000367120.3 + 9 1225 c.852C>T c.(850-852)atC>atT p.I284I IKBKE_ENST00000537984.1_Silent_p.I199I|IKBKE_ENST00000462698.1_3'UTR NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 284 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) TGGCCAACATCCTGGAGGTGG 0.622000 33 31 0 0 0.002445 0 0 GABRQ 55879 broad.mit.edu 37 X 151821304 151821304 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:151821304G>A ENST00000370306.2 + 9 1479 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 487 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CAACCGTGTCGAAGCCCATGG 0.557000 78 23 0 0 0.003610 0 0 OR10K1 391109 broad.mit.edu 37 1 158435677 158435677 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158435677C>T ENST00000289451.2 + 1 406 c.326C>T c.(325-327)tCc>tTc p.S109F NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTCTTTGGCTCCTCTCACTCC 0.517000 22 92 0 0 0.003954 0 0 GPT 2875 broad.mit.edu 37 8 145731980 145731980 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:145731980G>A ENST00000394955.2 + 9 1451 c.1228G>A c.(1228-1230)Ggc>Agc p.G410S GPT_ENST00000528431.1_Missense_Mutation_p.G410S NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 410 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCCAGTGCAGGGCGCCATGTA 0.716000 4 4 0 0 0.000248 0 0 MUC16 94025 broad.mit.edu 37 19 8994429 8994429 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:8994429G>A ENST00000397910.4 - 64 41666 c.41463C>T c.(41461-41463)gtC>gtT p.V13821V MUC16_ENST00000380951.5_Silent_p.V462V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13824 SEA 12. Missing (in Ref. 3; AAK74120). 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 GGCCCTGAAGGACCCTCTCTG 0.537000 24 130 0 0 0.003330 0 0 CSMD3 114788 broad.mit.edu 37 8 113267561 113267561 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:113267561G>A ENST00000297405.5 - 62 10202 c.9958C>T c.(9958-9960)Cct>Tct p.P3320S CSMD3_ENST00000352409.3_Missense_Mutation_p.P3250S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3151S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3280S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3320 Sushi 26. 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 AATATGAAAGGAAAATTGCAG 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 19 0 0 0.000673 0 0 FBP2 8789 broad.mit.edu 37 9 97321385 97321385 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:97321385C>T ENST00000375337.3 - 7 921 c.855G>A c.(853-855)gtG>gtA p.V285V PCAT7_ENST00000452148.2_RNA NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 285 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) TGATGTAGGCCACGGGATTGC 0.587000 23 21 0 0 0.003330 0 0 DDX55 57696 broad.mit.edu 37 12 124091996 124091996 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:124091996C>T ENST00000238146.4 + 4 314 c.264C>T c.(262-264)atC>atT p.I88I DDX55_ENST00000538744.1_Silent_p.I88I NM_020936.1 NP_065987.1 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 88 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) CCATAATCATCACCCCCACTC 0.547000 12 16 0 0 0.001855 0 0 ZNF235 9310 broad.mit.edu 37 19 44791542 44791542 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:44791542G>A ENST00000291182.4 - 5 2148 c.2046C>T c.(2044-2046)ccC>ccT p.P682P ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 682 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) GACACGTATAGGGTTTCTCTC 0.493000 13 27 0 0 0.001855 0 0 ACSS3 79611 broad.mit.edu 37 12 81627128 81627128 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:81627128G>A ENST00000548058.1 + 13 2507 c.1596_splice c.e13-1 p.G533_splice ACSS3_ENST00000261206.3_Splice_Site_p.G532_splice|ACSS3_ENST00000548324.1_Splice_Site_p.G215_splice Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 533 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTGTTTTCAGGGATATTATGA 0.313000 3 7 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179444698 179444698 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179444698G>A ENST00000589042.1 - 318 67540 c.67316C>T c.(67315-67317)cCc>cTc p.P22439L TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20798L|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13374L|TTN_ENST00000359218.5_Missense_Mutation_p.P13499L|TTN_ENST00000342992.6_Missense_Mutation_p.P19871L|TTN_ENST00000342175.6_Missense_Mutation_p.P13566L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20798 Ig-like 116. 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) AGTTTCACCGGGATCACCAAT 0.428000 11 31 0 0 0.000978 0 0 CD86 942 broad.mit.edu 37 3 121825205 121825205 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:121825205G>A ENST00000330540.2 + 4 677 c.561G>A c.(559-561)caG>caA p.Q187Q CD86_ENST00000469710.1_Silent_p.Q105Q|CD86_ENST00000493101.1_Silent_p.Q75Q|CD86_ENST00000393627.2_Silent_p.Q181Q|CD86_ENST00000264468.5_Intron NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 187 Ig-like C2-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GTGTTATGCAGAAATCTCAAG 0.398000 36 59 0 0 0.004289 0 0 INF2 64423 broad.mit.edu 37 14 105174795 105174795 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:105174795C>T ENST00000392634.4 + 9 1870 c.1758C>T c.(1756-1758)tcC>tcT p.S586S INF2_ENST00000330634.7_Silent_p.S586S NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 586 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) TGTGGGCGTCCCTGAGCAGCC 0.677000 OREG0022959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 40 0 0 0.003954 0 0 TRPC6 7225 broad.mit.edu 37 11 101374855 101374855 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:101374855C>A ENST00000344327.3 - 2 1269 c.845G>T c.(844-846)aGt>aTt p.S282I TRPC6_ENST00000532133.1_Missense_Mutation_p.S282I|TRPC6_ENST00000360497.4_Missense_Mutation_p.S282I|TRPC6_ENST00000348423.4_Missense_Mutation_p.S282I NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 282 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GTAAGCCGGACTTGCCAGGCC 0.438000 36 51 1.07121e-22 2.2563e-22 0.001485 1 0 SERPINA11 256394 broad.mit.edu 37 14 94914675 94914675 + Missense_Mutation SNP C C T rs113919455 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:94914675C>T ENST00000334708.3 - 2 501 c.437G>A c.(436-438)cGa>cAa p.R146Q RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 146 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) AGGCTTTAGTCGCTTGTCTAG 0.527000 45 158 0 0 0.002522 0 0 LPAR3 23566 broad.mit.edu 37 1 85331159 85331159 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:85331159C>T ENST00000440886.1 - 1 683 c.645G>A c.(643-645)agG>agA p.R215R LPAR3_ENST00000370611.3_Silent_p.R215R|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 215 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 CGTTGGTTTTCCTCTTGACGT 0.502000 18 42 0 0 0.001882 0 0 SSTR4 6754 broad.mit.edu 37 20 23016549 23016549 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:23016549C>T ENST00000255008.3 + 1 493 c.429C>T c.(427-429)gaC>gaT p.D143D RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 143 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCAGCGTGGACCGCTACGTGG 0.687000 20 37 0 0 0.001523 0 0 ATMIN 23300 broad.mit.edu 37 16 81077961 81077961 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:81077961C>T ENST00000566488.1 + 3 2353 c.1390C>T c.(1390-1392)Cct>Tct p.P464S ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.P464S|ATMIN_ENST00000299575.4_Missense_Mutation_p.P620S O43313 ATMIN_HUMAN ATM interactor 620 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AAATCCTGGACCTGACACCCA 0.438000 15 26 0 0 0.004007 0 0 PER2 8864 broad.mit.edu 37 2 239161848 239161848 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:239161848G>A ENST00000254657.3 - 19 3095 c.2816C>T c.(2815-2817)tCc>tTc p.S939F AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 939 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GGCCATCTCGGATGTGAGTGT 0.642000 19 60 0 0 0.000958 0 0 HABP2 3026 broad.mit.edu 37 10 115335753 115335753 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:115335753G>T ENST00000351270.3 + 4 417 c.321G>T c.(319-321)aaG>aaT p.K107N HABP2_ENST00000537906.1_Missense_Mutation_p.S96I|HABP2_ENST00000542051.1_Missense_Mutation_p.K81N|HABP2_ENST00000541666.1_Missense_Mutation_p.K107N NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 107 EGF-like 1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CTGGGAATAAGTGTCAGAAAG 0.537000 16 35 9.16793e-09 1.90814e-08 0.004990 1 0 PDE1C 5137 broad.mit.edu 37 7 31864483 31864483 + Silent SNP C C T rs140362011 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:31864483C>T ENST00000396184.3 - 14 1608 c.1404G>A c.(1402-1404)tcG>tcA p.S468S PDE1C_ENST00000321453.7_Silent_p.S468S|PDE1C_ENST00000396182.2_Silent_p.S468S|PDE1C_ENST00000396191.1_Silent_p.S468S|PDE1C_ENST00000396193.1_Silent_p.S528S NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 468 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.S468S(3) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CCACTGACCTCGAACGCCTCT 0.507000 15 21 0 0 0.002450 0 0 EEF2 1938 broad.mit.edu 37 19 3977900 3977900 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:3977900G>A ENST00000309311.6 - 12 2072 c.1984C>T c.(1984-1986)Ctc>Ttc p.L662F NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 662 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) ATGTCGGTGAGGATGTTGGGG 0.647000 13 57 0 0 0.002450 0 0 NDFIP1 80762 broad.mit.edu 37 5 141520143 141520143 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:141520143C>T ENST00000253814.4 + 6 981 c.511C>T c.(511-513)Cct>Tct p.P171S NM_030571.3 NP_085048.1 Q9BT67 NFIP1_HUMAN Nedd4 family interacting protein 1 171 cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm signal transducer activity large_intestine(3)|lung(1)|ovary(1) 5 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCTATTTCCCTGGATATTT 0.323000 53 72 0 0 0.003610 0 0 FAT3 120114 broad.mit.edu 37 11 92086290 92086290 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:92086290C>T ENST00000298047.6 + 1 1029 c.1012C>T c.(1012-1014)Ccc>Tcc p.P338S FAT3_ENST00000525166.1_Missense_Mutation_p.P188S|FAT3_ENST00000541502.1_Missense_Mutation_p.P338S|FAT3_ENST00000409404.2_Missense_Mutation_p.P338S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 338 Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGAGAGCTTTCCCTATGGCTA 0.453000 TCGA Ovarian(4;0.039) 36 129 0 0 0.004289 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204218005 204218005 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:204218005C>T ENST00000272203.3 - 12 2084 c.1768G>A c.(1768-1770)Gat>Aat p.D590N PLEKHA6_ENST00000414478.1_Missense_Mutation_p.D610N NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 590 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TGCAGTGAATCCTTTTTGTGT 0.582000 12 49 0 0 0.003163 0 0 ADAM22 53616 broad.mit.edu 37 7 87774745 87774745 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:87774745G>A ENST00000398204.4 + 17 1731 c.1408G>A c.(1408-1410)Gga>Aga p.G470R ADAM22_ENST00000398201.4_Missense_Mutation_p.G470R|ADAM22_ENST00000398209.3_Missense_Mutation_p.G470R|ADAM22_ENST00000265727.7_Missense_Mutation_p.G470R|ADAM22_ENST00000315984.7_Missense_Mutation_p.G470R NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 470 Disintegrin. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TGTCCTTGAAGGAGCAGAGTG 0.348000 17 64 0 0 0.001216 0 0 RYR1 6261 broad.mit.edu 37 19 38966003 38966003 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:38966003G>A ENST00000355481.4 + 29 4337 c.4206G>A c.(4204-4206)ccG>ccA p.P1402P RYR1_ENST00000359596.3_Silent_p.P1402P|RYR1_ENST00000360985.3_Silent_p.P1402P NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1402 6 X approximate repeats.|B30.2/SPRY 3. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCAGCCACCGGCCACCCCCA 0.622000 3 3 0 0 0.004672 0 0 LPL 4023 broad.mit.edu 37 8 19805791 19805791 + Silent SNP C C T rs114726797 by1000genomes TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:19805791C>T ENST00000311322.8 + 2 659 c.189C>T c.(187-189)tcC>tcT p.S63S LPL_ENST00000521994.1_3'UTR NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 63 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) TAGCAGAGTCCGTGGCTACCT 0.502000 14 39 0 0 0.002450 0 0 MXD1 4084 broad.mit.edu 37 2 70143267 70143267 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:70143267T>C ENST00000264444.2 + 2 348 c.88T>C c.(88-90)Tat>Cat p.Y30H MXD1_ENST00000540449.1_Missense_Mutation_p.Y30H NM_001202513.1|NM_001202514.1|NM_002357.3 NP_001189442.1|NP_001189443.1|NP_002348.1 Q05195 MAD1_HUMAN MAX dimerization protein 1 30 cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 TGAACATGGTTATGCCTCCAT 0.373000 9 16 0 0 0.000443 0 0 TTN 7273 broad.mit.edu 37 2 179480180 179480180 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179480180C>T ENST00000589042.1 - 259 48716 c.48492G>A c.(48490-48492)tgG>tgA p.W16164* TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W14523*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W7099*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W7224*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W13596*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W7291*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14523 Fibronectin type-III 17. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCGATCTCTCCATTTAACAT 0.443000 7 44 0 0 0.003080 0 0 TRANK1 9881 broad.mit.edu 37 3 36872497 36872497 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:36872497G>A ENST00000301807.6 - 21 8692 c.6795C>T c.(6793-6795)atC>atT p.I2265I TRANK1_ENST00000429976.2_Silent_p.I2815I|TRANK1_ENST00000428977.2_Silent_p.I2265I NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2815 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CACTTTGCTCGATGTCCTGCA 0.542000 72 163 0 0 0.003610 0 0 ATP8B1 5205 broad.mit.edu 37 18 55361813 55361813 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:55361813C>T ENST00000536015.1 - 11 1149 c.e11+1 RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Splice_Site|RP11-35G9.3_ENST00000599199.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) AAAATAAATACCGTGTAAACC 0.308000 7 4 0 0 0.003080 0 0 KPRP 448834 broad.mit.edu 37 1 152733109 152733109 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:152733109C>T ENST00000368773.1 + 2 1103 c.1045C>T c.(1045-1047)Ccc>Tcc p.P349S KPRP_ENST00000606109.1_Missense_Mutation_p.P349S NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 349 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGATTCCTCCCATCAGACG 0.647000 12 28 0 0 0.001855 0 0 ALPK2 115701 broad.mit.edu 37 18 56196448 56196448 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:56196448G>A ENST00000361673.3 - 6 5589 c.5376C>T c.(5374-5376)atC>atT p.I1792I NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1792 Ig-like 2. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TCTCAGCTTGGATCTTTTTCA 0.348000 29 29 0 0 0.002096 0 0 ATXN1 6310 broad.mit.edu 37 6 16328278 16328278 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:16328278G>A ENST00000244769.4 - 8 1200 c.264C>T c.(262-264)tcC>tcT p.S88S ATXN1_ENST00000436367.1_Silent_p.S88S NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 88 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CGCTGGGCGGGGAGTAGTCCA 0.677000 34 53 0 0 0.003755 0 0 FSD2 123722 broad.mit.edu 37 15 83456038 83456038 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:83456038G>A ENST00000334574.8 - 2 286 c.105C>T c.(103-105)ctC>ctT p.L35L FSD2_ENST00000541889.1_Silent_p.L35L A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 35 p.L35L(1) breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 CTTCTGGAAAGAGGTGCAGTC 0.502000 51 76 0 0 0.003610 0 0 BRINP2 57795 broad.mit.edu 37 1 177250269 177250269 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:177250269C>T ENST00000361539.4 + 8 2269 c.1957C>T c.(1957-1959)Ctg>Ttg p.L653L FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 653 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 AATCAAGTCCCTGGATGACAG 0.463000 25 83 0 0 0.003954 0 0 C12orf42 374470 broad.mit.edu 37 12 103795435 103795435 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:103795435G>A ENST00000378113.2 - 3 322 c.97C>T c.(97-99)Ccc>Tcc p.P33S C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.P33S|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.P33S NM_001099336.1 NP_001092806.1 Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 33 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CTCACAATGGGAATATAGCAA 0.433000 9 34 0 0 0.000673 0 0 HNRNPK 3190 broad.mit.edu 37 9 86586929 86586929 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:86586929G>A ENST00000376263.3 - 11 1044 c.821C>T c.(820-822)cCt>cTt p.P274L HNRNPK_ENST00000376281.4_Missense_Mutation_p.P274L|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P274L|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P274L|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P274L NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 274 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|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|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 TCTAGATGGAGGCATGGGACG 0.597000 30 32 0 0 0.003271 0 0 SAMD3 154075 broad.mit.edu 37 6 130465718 130465718 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:130465718G>A ENST00000368134.2 - 14 2118 c.1510C>T c.(1510-1512)Cct>Tct p.P504S SAMD3_ENST00000457563.2_Missense_Mutation_p.P528S|SAMD3_ENST00000439090.2_Missense_Mutation_p.P504S|SAMD3_ENST00000437477.2_Missense_Mutation_p.P504S NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 504 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TTCAAAGAAGGAAAATAAGGA 0.388000 28 49 0 0 0.001271 0 0 CTNND2 1501 broad.mit.edu 37 5 11364892 11364892 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:11364892G>A ENST00000304623.8 - 8 1477 c.1288C>T c.(1288-1290)Cag>Tag p.Q430* CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q430*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q93*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q339*|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 430 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGGGGCTTCTGATAGACGCGG 0.617000 21 27 0 0 0.002780 0 0 CDHR2 54825 broad.mit.edu 37 5 176017435 176017435 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:176017435G>A ENST00000510636.1 + 27 3637 c.3363G>A c.(3361-3363)cgG>cgA p.R1121R CDHR2_ENST00000261944.5_Silent_p.R1121R|CDHR2_ENST00000506348.1_Silent_p.R1121R NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1121 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GGATGATCCGGAATGATCAGG 0.662000 20 32 0 0 0.001882 0 0 MAP2K5 5607 broad.mit.edu 37 15 67878236 67878236 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:67878236C>T ENST00000178640.5 + 5 958 c.331C>T c.(331-333)Cct>Tct p.P111S MAP2K5_ENST00000354498.5_Missense_Mutation_p.P75S|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000395476.2_Missense_Mutation_p.P111S NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 111 nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 AGCCTGCAAGCCTCCTGGGGA 0.373000 12 59 0 0 0.001368 0 0 HADHA 3030 broad.mit.edu 37 2 26455137 26455137 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:26455137G>A ENST00000380649.3 - 6 593 c.464C>T c.(463-465)tCa>tTa p.S155L HADHA_ENST00000461025.1_5'UTR|HADHA_ENST00000457468.2_Missense_Mutation_p.S68L NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 155 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) GTATTGGCATGAAATGGCAAC 0.378000 21 22 0 0 0.001882 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786322 121786322 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:121786322G>A ENST00000261367.7 + 12 3349 c.1921G>A c.(1921-1923)Ggg>Agg p.G641R SNCAIP_ENST00000542191.1_Missense_Mutation_p.G152R|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G228R|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G594R|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G534R|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G641R|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G196R|SNCAIP_ENST00000504884.2_3'UTR Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 594 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGTCCAAGAGGGGATTCAGGT 0.478000 17 69 0 0 0.004990 0 0 TJAP1 93643 broad.mit.edu 37 6 43472807 43472807 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:43472807T>C ENST00000372444.2 + 11 1291 c.858T>C c.(856-858)acT>acC p.T286T TJAP1_ENST00000372449.1_Silent_p.T296T|TJAP1_ENST00000438588.2_Silent_p.T296T|TJAP1_ENST00000372445.5_Silent_p.T296T|TJAP1_ENST00000436109.2_Silent_p.T286T|TJAP1_ENST00000372452.1_Silent_p.T286T|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000259751.1_Silent_p.T286T NM_001146018.1 NP_001139490.1 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 296 Pro-rich. Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTCTGGGTACTGCCAGGGGCT 0.652000 18 19 0 0 0.000958 0 0 HPD 3242 broad.mit.edu 37 12 122284839 122284839 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:122284839C>T ENST00000543163.1 - 12 1088 c.642_splice c.e12-1 p.E215_splice HPD_ENST00000543869.2_5'UTR|HPD_ENST00000289004.4_Splice_Site_p.E254_splice NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 254 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) TCCACATATTCCTGGGGGAGG 0.587000 15 18 0 0 0.002450 0 0 OR4K15 81127 broad.mit.edu 37 14 20444677 20444677 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:20444677C>T ENST00000305051.5 + 1 1075 c.1000C>T c.(1000-1002)Cag>Tag p.Q334* NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 334 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) GAAGCCTAGTCAGGTTTCTGT 0.383000 5 6 0 0 0.001168 0 0 CLIC2 1193 broad.mit.edu 37 X 154528438 154528438 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:154528438A>G ENST00000369449.2 - 2 296 c.78T>C c.(76-78)agT>agC p.S26S CLIC2_ENST00000465553.1_5'UTR NM_001289.4 NP_001280.3 O15247 CLIC2_HUMAN chloride intracellular channel 2 26 N-terminal.|Required for insertion into the membrane (By similarity). signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGTTTCCAATACTCTCTCCAT 0.373000 40 14 0 0 0.001485 0 0 MAP3K11 4296 broad.mit.edu 37 11 65380868 65380868 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:65380868C>T ENST00000309100.3 - 1 845 c.360G>A c.(358-360)gaG>gaA p.E120E NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 120 Gly-rich.|Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 CGATCACCTCCTCCAGCCGCA 0.667000 12 37 0 0 0.001368 0 0 C12orf42 374470 broad.mit.edu 37 12 103872171 103872171 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:103872171C>T ENST00000378113.2 - 2 259 c.34G>A c.(34-36)Gaa>Aaa p.E12K C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.E12K|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.E12K NM_001099336.1 NP_001092806.1 Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 12 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 AAGAATTCTTCTTCCCTTTGT 0.338000 8 8 0 0 0.000443 0 0 CDC37 11140 broad.mit.edu 37 19 10502334 10502334 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:10502334G>A ENST00000222005.2 - 8 1083 c.1030C>T c.(1030-1032)Ccc>Tcc p.P344S NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 344 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) TTAGAGTTGGGGACCCAGAGG 0.627000 OREG0025234 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 47 0 0 0.002450 0 0 AKAP8 10270 broad.mit.edu 37 19 15483046 15483046 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:15483046C>A ENST00000269701.2 - 6 1034 c.974G>T c.(973-975)gGa>gTa p.G325V NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 325 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 GGAGAAATCTCCTTCACTGTC 0.592000 13 57 9.31168e-06 1.9355e-05 0.001855 1 0 GLRX3 10539 broad.mit.edu 37 10 131959078 131959078 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:131959078C>T ENST00000368644.1 + 4 317 c.295C>T c.(295-297)Cga>Tga p.R99* GLRX3_ENST00000331244.5_Nonsense_Mutation_p.R99* NM_001199868.1 NP_001186797.1 O76003 GLRX3_HUMAN glutaredoxin 3 99 Thioredoxin. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) GAAAATCGACCGATTAGATGG 0.378000 12 38 0 0 0.001368 0 0 KRBA1 84626 broad.mit.edu 37 7 149420913 149420913 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:149420913C>T ENST00000255992.10 + 8 1260 c.861C>T c.(859-861)ccC>ccT p.P287P KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.P287P|KRBA1_ENST00000485033.2_Silent_p.P287P NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 287 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACAGGCATCCCAGTCCCTCAG 0.612000 23 41 0 0 0.002780 0 0 DNER 92737 broad.mit.edu 37 2 230377581 230377581 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:230377581C>T ENST00000341772.4 - 6 1199 c.1065G>A c.(1063-1065)agG>agA p.R355R NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 355 EGF-like 4. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) GGCAAGGTTTCCTCTGGCAAG 0.438000 29 32 0 0 0.002096 0 0 OR10R2 343406 broad.mit.edu 37 1 158449871 158449871 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158449871C>T ENST00000368152.1 + 1 204 c.204C>T c.(202-204)gtC>gtT p.V68V RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TTATCAGTGTCATCCACCTGG 0.428000 46 49 0 0 0.002852 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058033 152058033 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:152058033C>T ENST00000368806.1 - 3 2189 c.2125G>A c.(2125-2127)Gag>Aag p.E709K NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 709 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTTCCTTTCTCTTCTTTGCTA 0.453000 21 77 0 0 0.002299 0 0 ALB 213 broad.mit.edu 37 4 74280794 74280794 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:74280794C>T ENST00000295897.4 + 9 1190 c.1101C>T c.(1099-1101)gtC>gtT p.V367V ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.V175V|ALB_ENST00000503124.1_Silent_p.V217V|ALB_ENST00000509063.1_Silent_p.V367V|ALB_ENST00000401494.3_Silent_p.V252V NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 367 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) ATTACTCTGTCGTGCTGCTGC 0.393000 28 28 0 0 0.005443 0 0 MYOCD 93649 broad.mit.edu 37 17 12639642 12639642 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:12639642G>A ENST00000425538.1 + 6 780 c.580G>A c.(580-582)Ggg>Agg p.G194R MYOCD_ENST00000343344.4_Missense_Mutation_p.G194R|MYOCD_ENST00000395988.1_Missense_Mutation_p.G98R NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 194 HDAC5-binding (By similarity). cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGGTTCTCTGGGGACAAACCA 0.458000 37 35 0 0 0.004289 0 0 GABRB1 2560 broad.mit.edu 37 4 47427775 47427775 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:47427775G>A ENST00000295454.3 + 9 1457 c.1165G>A c.(1165-1167)Gac>Aac p.D389N GABRB1_ENST00000538619.1_Missense_Mutation_p.D319N NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 389 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GAGCGTGAGCGACCCCAAGGC 0.627000 19 59 0 0 0.000958 0 0 EPHA3 2042 broad.mit.edu 37 3 89521633 89521633 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:89521633G>A ENST00000336596.2 + 16 2935 c.2710G>A c.(2710-2712)Gac>Aac p.D904N EPHA3_ENST00000494014.1_Missense_Mutation_p.D904N NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 904 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) CCTTCTTCTGGACCAAAGCAA 0.468000 TSP Lung(6;0.00050) 51 135 0 0 0.003610 0 0 PCBP3 54039 broad.mit.edu 37 21 47359972 47359972 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:47359972G>A ENST00000400314.1 + 15 1276 c.938G>A c.(937-939)gGg>gAg p.G313E PCBP3_ENST00000400308.1_Missense_Mutation_p.G287E|PCBP3_ENST00000400309.1_Missense_Mutation_p.G312E|PCBP3_ENST00000400310.1_Missense_Mutation_p.G293E|PCBP3_ENST00000449640.1_Missense_Mutation_p.G313E|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.G303E P57721 PCBP3_HUMAN poly(rC) binding protein 3 313 KH 3. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) GGACGCCAAGGGACCAAAATC 0.537000 12 46 0 0 0.001855 0 0 FBLN5 10516 broad.mit.edu 37 14 92336628 92336628 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:92336628G>A ENST00000267620.10 - 12 1579 c.1410C>T c.(1408-1410)atC>atT p.I470I FBLN5_ENST00000556961.1_5'UTR|FBLN5_ENST00000556154.1_Silent_p.I434I|FBLN5_ENST00000342058.4_Silent_p.I429I Q9UBX5 FBLN5_HUMAN fibulin 5 429 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) CTCTGAAGTTGATGACAGTGT 0.577000 63 87 0 0 0.003610 0 0 RBP3 5949 broad.mit.edu 37 10 48390435 48390435 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:48390435C>T ENST00000224600.4 - 1 556 c.443G>A c.(442-444)gGg>gAg p.G148E NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 148 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CAGGAACTCCCCCATCATGCT 0.652000 12 38 0 0 0.001855 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140865196 140865196 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140865196C>T ENST00000306593.1 + 1 456 c.456C>T c.(454-456)ttC>ttT p.F152F PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAGCGTTTCCCGTTGGAAA 0.537000 15 52 0 0 0.003163 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001296 52001296 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:52001296G>A ENST00000291707.3 - 5 1436 c.1381C>T c.(1381-1383)Ctc>Ttc p.L461F SIGLEC12_ENST00000598614.1_Missense_Mutation_p.L343F NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 461 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGCAGGGAGAGGCTCAGGGAA 0.587000 16 21 0 0 0.000958 0 0 ASPHD2 57168 broad.mit.edu 37 22 26829737 26829737 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:26829737C>T ENST00000215906.5 + 2 594 c.156C>T c.(154-156)tcC>tcT p.S52S NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 52 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 GCATCCAGTCCGTGCGGGACT 0.657000 27 59 0 0 0.004656 0 0 MYO15A 51168 broad.mit.edu 37 17 18023559 18023559 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:18023559G>A ENST00000205890.5 + 2 1783 c.1445G>A c.(1444-1446)cGa>cAa p.R482Q NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 482 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTCTTCCCGCGACCCCAGGTG 0.632000 15 7 0 0 0.006122 0 0 RASGRP3 25780 broad.mit.edu 37 2 33759402 33759402 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:33759402C>T ENST00000403687.3 + 11 1836 c.1096C>T c.(1096-1098)Ctc>Ttc p.L366F RASGRP3_ENST00000407811.1_Missense_Mutation_p.L366F|RASGRP3_ENST00000402538.3_Missense_Mutation_p.L366F NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 366 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TTCCCTGGACCTCTATCACAC 0.333000 4 21 0 0 0.000248 0 0 SLC6A20 54716 broad.mit.edu 37 3 45807204 45807204 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:45807204G>A ENST00000358525.4 - 8 1243 c.1128C>T c.(1126-1128)atC>atT p.I376I SLC6A20_ENST00000456124.2_Silent_p.I376I|SLC6A20_ENST00000353278.4_Silent_p.I339I|SLC6A20_ENST00000493980.1_5'UTR NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 376 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CTGTGTAGACGATGAATGCCA 0.532000 20 52 0 0 0.002780 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128862023 128862023 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:128862023G>A ENST00000274487.4 + 4 1087 c.942G>A c.(940-942)ggG>ggA p.G314G CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 314 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GTGGAAGAGGGAAACGATATT 0.393000 13 17 0 0 0.001368 0 0 MMP15 4324 broad.mit.edu 37 16 58079018 58079018 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:58079018C>T ENST00000219271.3 + 10 2463 c.1678C>T c.(1678-1680)Cag>Tag p.Q560* NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 560 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 CATGGGCTGCCAGGAGCACGT 0.672000 5 6 0 0 0.000602 0 0 PDE11A 50940 broad.mit.edu 37 2 178494141 178494141 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:178494141C>T ENST00000286063.5 - 20 3113 c.2796G>A c.(2794-2796)agG>agA p.R932R PDE11A_ENST00000389683.3_Silent_p.R488R|PDE11A_ENST00000409504.1_Silent_p.R574R|PDE11A_ENST00000450799.2_Silent_p.R123R|PDE11A_ENST00000449286.2_Silent_p.R574R|PDE11A_ENST00000358450.4_Silent_p.R682R NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 932 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) AGGTTTAGTTCCTGTCTTCCT 0.483000 Primary Pigmented Nodular Adrenocortical Disease, Familial 32 51 0 0 0.002096 0 0 TPCN2 219931 broad.mit.edu 37 11 68825141 68825141 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:68825141C>T ENST00000294309.3 + 5 626 c.525C>T c.(523-525)tcC>tcT p.S175S TPCN2_ENST00000542467.1_Silent_p.S175S|TPCN2_ENST00000442692.2_3'UTR NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 175 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGACCGTGTCCCTGAGTCTCG 0.607000 9 39 0 0 0.000673 0 0 NLRP13 126204 broad.mit.edu 37 19 56443522 56443522 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:56443522G>A ENST00000588751.1 - 1 180 c.156C>T c.(154-156)ttC>ttT p.F52F NLRP13_ENST00000342929.3_Silent_p.F52F Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 52 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GGATACGCGGGAAGTGCCCCT 0.547000 16 61 0 0 0.000958 0 0 ACTR3B 57180 broad.mit.edu 37 7 152551617 152551617 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:152551617C>T ENST00000256001.8 + 12 1370 c.1236C>T c.(1234-1236)ccC>ccT p.P412P ACTR3B_ENST00000377776.3_Silent_p.P342P|ACTR3B_ENST00000537264.1_Silent_p.P324P|ACTR3B_ENST00000397282.2_Silent_p.P324P NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 412 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) GCCACAACCCCGTCTTTGGAG 0.562000 32 66 0 0 0.001485 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716536 39716536 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:39716536G>A ENST00000553728.1 + 4 971 c.758G>A c.(757-759)aGt>aAt p.S253N MIA2_ENST00000556784.1_Missense_Mutation_p.S252N|MIA2_ENST00000280082.3_Missense_Mutation_p.S253N TCATTTCGGAGTAGAAAAATA 0.388000 6 39 0 0 0.001168 0 0 F2 2147 broad.mit.edu 37 11 46748337 46748337 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:46748337C>T ENST00000311907.5 + 9 1136 c.1080C>T c.(1078-1080)atC>atT p.I360I F2_ENST00000530231.1_Silent_p.I360I NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 360 activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) AATCCTACATCGACGGGCGCA 0.587000 20 78 0 0 0.001882 0 0 TMEM199 147007 broad.mit.edu 37 17 26685996 26685996 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:26685996T>C ENST00000292114.3 + 2 359 c.269T>C c.(268-270)gTt>gCt p.V90A CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000581386.1_3'UTR|TMEM199_ENST00000509083.1_Missense_Mutation_p.V90A|TMEM199_ENST00000395404.3_Intron NM_152464.1 NP_689677.1 Q8N511 TM199_HUMAN transmembrane protein 199 90 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CTCCCAGAGGTTGTGAAGCCT 0.413000 22 23 0 0 0.002780 0 0 TACR2 6865 broad.mit.edu 37 10 71164665 71164665 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:71164665C>T ENST00000373306.4 - 5 1657 c.1114G>A c.(1114-1116)Gag>Aag p.E372K TACR2_ENST00000373307.1_Missense_Mutation_p.E160K NM_001057.2 NP_001048.2 P21452 NK2R_HUMAN tachykinin receptor 2 372 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) CGCCCCGCCTCCCCACTGGTA 0.567000 4 17 0 0 0.000602 0 0 VAT1L 57687 broad.mit.edu 37 16 77910297 77910297 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:77910297G>A ENST00000302536.2 + 5 906 c.753G>A c.(751-753)ttG>ttA p.L251L VAT1L_ENST00000563850.1_3'UTR NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 251 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 ACATCGTTTTGGATTGCCTCT 0.473000 40 87 0 0 0.003214 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52132613 52132613 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:52132613G>A ENST00000222107.4 - 3 836 c.698C>T c.(697-699)tCc>tTc p.S233F SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S233F|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S233F|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S233F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S233F O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 233 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CCACTCACAGGAGACATTGAG 0.577000 20 43 0 0 0.004656 0 0 TSIX 9383 broad.mit.edu 37 X 73045103 73045103 + RNA SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:73045103C>A ENST00000604411.1 + 0 33064 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCAGCAAACACAAATTGGCCT 0.299000 22 13 5.26018e-13 1.1011e-12 0.001882 1 0 OR5AN1 390195 broad.mit.edu 37 11 59131940 59131940 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:59131940G>A ENST00000313940.2 + 1 56 c.9G>A c.(7-9)ggG>ggA p.G3G NM_001004729.1 NP_001004729.1 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, member 1 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 CAATGACTGGGGGAGGAAATA 0.398000 6 23 0 0 0.001168 0 0 ANLN 54443 broad.mit.edu 37 7 36455450 36455450 + Silent SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:36455450C>A ENST00000265748.2 + 8 1700 c.1479C>A c.(1477-1479)acC>acA p.T493T ANLN_ENST00000495714.1_Intron|ANLN_ENST00000396068.2_Silent_p.T493T NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 493 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 AAAAGGTGACCGAAAACCAGA 0.398000 6 142 0.00198382 0.0041037 0.001984 1 0 VSNL1 7447 broad.mit.edu 37 2 17773477 17773477 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:17773477G>A ENST00000406397.1 + 2 661 c.136G>A c.(136-138)Gag>Aag p.E46K VSNL1_ENST00000404666.2_Missense_Mutation_p.E46K|VSNL1_ENST00000295156.4_Missense_Mutation_p.E46K P62760 VISL1_HUMAN visinin-like 1 46 EF-hand 1. calcium ion binding p.E46Q(1) NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCTAAATCTCGAGGAATTTCA 0.428000 17 26 0 0 0.001523 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222485 140222485 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140222485G>A ENST00000531613.1 + 1 1579 c.1579G>A c.(1579-1581)Gag>Aag p.E527K PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E527K|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCACGAGGAGCTAGAGCT 0.672000 11 152 0 0 0.001855 0 0 ZNF888 388559 broad.mit.edu 37 19 53418540 53418540 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:53418540G>A ENST00000596623.1 - 0 459 zinc finger protein 888 CCTCCTGAGAGAATTCTATGG 0.438000 17 103 0 0 0.002445 0 0 LARP4B 23185 broad.mit.edu 37 10 930436 930436 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:930436G>A ENST00000316157.3 - 2 132 c.92C>T c.(91-93)cCt>cTt p.P31L NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 31 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TTGAGATATAGGACCATTCAT 0.328000 11 25 0 0 0.000978 0 0 PREX2 80243 broad.mit.edu 37 8 69020509 69020509 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:69020509C>T ENST00000288368.4 + 24 3158 c.2881C>T c.(2881-2883)Cag>Tag p.Q961* NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 961 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ATTTGGTGTTCAGTTGGATAG 0.393000 8 14 0 0 0.004482 0 0 LAG3 3902 broad.mit.edu 37 12 6884007 6884007 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:6884007T>G ENST00000203629.2 + 4 1091 c.758T>G c.(757-759)aTc>aGc p.I253S LAG3_ENST00000441671.2_Missense_Mutation_p.I253S NM_002286.5 NP_002277.4 P18627 LAG3_HUMAN lymphocyte-activation gene 3 253 integral to membrane antigen binding|MHC class II protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 AACGTCTCCATCATGTATAAC 0.557000 44 53 0 0 0.003610 0 0 IGKV6D-41 28869 broad.mit.edu 37 2 90108565 90108565 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:90108565C>T ENST00000390271.2 + 0 62 GGCTTCTGCTCCTCTGGGTTC 0.398000 16 63 0 0 0.000958 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971187 21971187 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:21971187G>A ENST00000579755.1 - 2 506 c.214C>T c.(214-216)Ccg>Tcg p.P72S CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72S|CDKN2A_ENST00000498628.2_Silent_p.A6A|CDKN2A_ENST00000497750.1_Silent_p.A6A|CDKN2A_ENST00000579122.1_Silent_p.A57A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Silent_p.A57A|CDKN2A_ENST00000446177.1_Silent_p.A57A|CDKN2A_ENST00000498124.1_Silent_p.A57A|CDKN2A_ENST00000494262.1_Silent_p.A6A|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113S|CDKN2A_ENST00000578845.2_Silent_p.A6A|CDKN2A_ENST00000479692.2_Silent_p.A6A P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 48 C -> G (in an esophagus tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(45)|p.R58*(6)|p.M53_R58del(3)|p.M54fs*61(2)|p.R58fs*59(1)|p.R58fs*89(1)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.A57A(1)|p.P113L(1)|p.A57fs*85(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCGCCACTCGGGCGCTGCCCA 0.682000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 33 18 0 0 0.002445 0 0 ABCA12 26154 broad.mit.edu 37 2 215866380 215866380 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:215866380G>A ENST00000272895.7 - 21 2984 c.2765C>T c.(2764-2766)tCc>tTc p.S922F ABCA12_ENST00000389661.4_Missense_Mutation_p.S604F NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 922 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TACACAAGAGGAAATATTTAC 0.368000 12 40 0 0 0.001368 0 0 CYP2A13 1553 broad.mit.edu 37 19 41601812 41601812 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:41601812C>T ENST00000330436.3 + 9 1451 c.1451C>T c.(1450-1452)cCa>cTa p.P484L NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 484 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GCCACGATCCCACGAAACTAC 0.632000 25 66 0 0 0.004656 0 0 SSPO 23145 broad.mit.edu 37 7 149482056 149482056 + RNA SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:149482056T>C ENST00000378016.2 + 0 2844 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTCCTGCCCTGCAGGCAGTA 0.617000 5 16 0 0 0.000602 0 0 FAM193A 8603 broad.mit.edu 37 4 2659588 2659588 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:2659588G>A ENST00000324666.5 + 6 848 c.497G>A c.(496-498)aGa>aAa p.R166K FAM193A_ENST00000382839.3_Missense_Mutation_p.R166K|FAM193A_ENST00000502458.1_Missense_Mutation_p.R190K|FAM193A_ENST00000505311.1_Missense_Mutation_p.R166K|FAM193A_ENST00000545951.1_Missense_Mutation_p.R166K NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 166 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TTTAAACAAAGAAGATTCATT 0.358000 105 296 0 0 0.003610 0 0 ARID3C 138715 broad.mit.edu 37 9 34622505 34622505 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:34622505G>A ENST00000378909.2 - 5 979 c.887C>T c.(886-888)cCt>cTt p.P296L NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 296 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) TGCCAGACAAGGGTTTGGAAT 0.572000 31 55 0 0 0.004878 0 0 PROM1 8842 broad.mit.edu 37 4 16040580 16040580 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:16040580C>T ENST00000505450.1 - 3 877 c.265G>A c.(265-267)Gat>Aat p.D89N PROM1_ENST00000447510.2_Missense_Mutation_p.D89N|PROM1_ENST00000510224.1_Missense_Mutation_p.D89N|PROM1_ENST00000508167.1_Missense_Mutation_p.D89N|PROM1_ENST00000539194.1_Missense_Mutation_p.D89N|PROM1_ENST00000540805.1_Missense_Mutation_p.D89N|PROM1_ENST00000543373.1_Missense_Mutation_p.D89N NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 89 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 TTGTCATAATCAATTTTGGAT 0.249000 6 22 0 0 0.003080 0 0 MGAM 8972 broad.mit.edu 37 7 141758027 141758027 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:141758027C>T ENST00000475668.2 + 31 3772 c.3718C>T c.(3718-3720)Cct>Tct p.P1240S MGAM_ENST00000549489.2_Missense_Mutation_p.P1240S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1240 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGTGATGGTACCTTACTGGTC 0.443000 127 261 0 0 0.003610 0 0 TGFBR3 7049 broad.mit.edu 37 1 92185583 92185583 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:92185583G>A ENST00000212355.4 - 9 1745 c.1280C>T c.(1279-1281)cCt>cTt p.P427L TGFBR3_ENST00000525962.1_Missense_Mutation_p.P427L|TGFBR3_ENST00000370399.2_Missense_Mutation_p.P426L NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 427 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding p.P427H(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GGGAATGACAGGGTCCTTTGG 0.522000 44 113 0 0 0.002852 0 0 FAM83C 128876 broad.mit.edu 37 20 33879631 33879631 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:33879631C>T ENST00000374408.3 - 1 573 c.477G>A c.(475-477)aaG>aaA p.K159K NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 159 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCAGCAGGTCCTTGATGTTCT 0.607000 47 87 0 0 0.003610 0 0 KLC4 89953 broad.mit.edu 37 6 43040994 43040994 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:43040994C>T ENST00000394056.2 + 15 2158 c.1663C>T c.(1663-1665)Ctt>Ttt p.L555F KLC4_ENST00000259708.3_Missense_Mutation_p.L573F|KLC4_ENST00000479388.1_Missense_Mutation_p.L555F|KLC4_ENST00000347162.5_Missense_Mutation_p.L555F|KLC4_ENST00000453940.2_Missense_Mutation_p.L478F|KLC4_ENST00000394058.1_Missense_Mutation_p.L555F Q9NSK0 KLC4_HUMAN kinesin light chain 4 555 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) GAGTGGCTCTCTTGGCAAGAT 0.557000 7 33 0 0 0.000443 0 0 TBC1D21 161514 broad.mit.edu 37 15 74173986 74173986 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:74173986G>A ENST00000300504.2 + 3 253 c.168_splice c.e3-1 p.G57_splice TBC1D21_ENST00000535547.2_Splice_Site_p.G21_splice|TBC1D21_ENST00000562056.1_Splice_Site_p.G57_splice NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 57 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 CCACCCCAGGGTCTGCACCCC 0.612000 5 11 0 0 0.000602 0 0 ZNF664 144348 broad.mit.edu 37 12 124497191 124497191 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:124497191G>A ENST00000539644.1 + 6 2330 c.500G>A c.(499-501)gGa>gAa p.G167E ZNF664_ENST00000337815.4_Missense_Mutation_p.G167E|ZNF664_ENST00000538932.2_Missense_Mutation_p.G167E|ZNF664_ENST00000392404.3_Missense_Mutation_p.G167E|RP11-522N14.1_ENST00000540762.1_RNA Q8N3J9 ZN664_HUMAN zinc finger protein 664 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) GTCCACACAGGAGAGAAACCC 0.512000 25 115 0 0 0.004656 0 0 DRD5 1816 broad.mit.edu 37 4 9784034 9784034 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:9784034C>T ENST00000304374.2 + 1 777 c.381C>T c.(379-381)tcC>tcT p.S127S NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 127 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) CCACTGCCTCCATCCTGAACC 0.617000 7 38 0 0 0.004482 0 0 MRPL37 51253 broad.mit.edu 37 1 54666161 54666161 + Missense_Mutation SNP A A G rs142946413 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:54666161A>G ENST00000605337.1 + 1 293 c.245A>G c.(244-246)tAc>tGc p.Y82C MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000360840.5_Missense_Mutation_p.Y82C|MRPL37_ENST00000336230.6_Missense_Mutation_p.T52A Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 82 translation mitochondrial ribosome structural constituent of ribosome NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19 GACCGCGGCTACAAGGACCCA 0.617000 12 44 0 0 0.001368 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69094497 69094497 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:69094497C>T ENST00000332644.5 - 9 1213 c.1052G>A c.(1051-1053)tGt>tAt p.C351Y NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 351 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 AAATCCAGCACATAACATTGT 0.358000 17 18 0 0 0.004007 0 0 RFX6 222546 broad.mit.edu 37 6 117201716 117201716 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:117201716G>A ENST00000332958.2 + 3 406 c.390G>A c.(388-390)gaG>gaA p.E130E NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 130 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GGCTTGAAGAGAATTACATTG 0.353000 4 33 0 0 0.000248 0 0 LILRB1 10859 broad.mit.edu 37 19 55146159 55146159 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:55146159C>T ENST00000396331.1 + 11 1785 c.1428C>T c.(1426-1428)ctC>ctT p.L476L LILRB1_ENST00000396317.1_Silent_p.L460L|LILRB1_ENST00000396315.1_Silent_p.L477L|LILRB1_ENST00000418536.2_Silent_p.L460L|LILRB1_ENST00000324602.7_Silent_p.L477L|LILRB1_ENST00000396332.4_Silent_p.L476L|LILRB1_ENST00000434867.2_Silent_p.L476L|LILRB1_ENST00000448689.1_Silent_p.L476L|LILRB1_ENST00000427581.2_Silent_p.L526L|LILRB1_ENST00000396321.2_Silent_p.L476L|LILRB1_ENST00000396327.3_Silent_p.L477L|LILRB1_ENST00000462628.1_3'UTR NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 476 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) tcctcctcctcctcctcctct 0.607000 HNSCC(37;0.09) 25 23 0 0 0.002780 0 0 TNFSF15 9966 broad.mit.edu 37 9 117553092 117553092 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:117553092C>T ENST00000374045.4 - 4 509 c.396G>A c.(394-396)atG>atA p.M132I TNFSF15_ENST00000374044.1_Missense_Mutation_p.M55I NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 132 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 TGGTATAGTTCATTCGGTTCT 0.478000 21 23 0 0 0.001882 0 0 OR51F2 119694 broad.mit.edu 37 11 4843091 4843091 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:4843091G>A ENST00000322110.5 + 1 541 c.476G>A c.(475-477)gGg>gAg p.G159E MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCAAGATTGGGATGAGCATG 0.463000 16 78 0 0 0.006122 0 0 MXD1 4084 broad.mit.edu 37 2 70143266 70143266 + Silent SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:70143266T>A ENST00000264444.2 + 2 347 c.87T>A c.(85-87)ggT>ggA p.G29G MXD1_ENST00000540449.1_Silent_p.G29G NM_001202513.1|NM_001202514.1|NM_002357.3 NP_001189442.1|NP_001189443.1|NP_002348.1 Q05195 MAD1_HUMAN MAX dimerization protein 1 29 cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 CTGAACATGGTTATGCCTCCA 0.373000 9 16 0 0 0.000443 0 0 OR14C36 127066 broad.mit.edu 37 1 248512232 248512232 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:248512232C>T ENST00000317861.1 + 1 156 c.156C>T c.(154-156)agC>agT p.S52S NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GTGACAGCAGCCTTCACATGC 0.443000 21 80 0 0 0.001882 0 0 LTBP1 4052 broad.mit.edu 37 2 33572504 33572504 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:33572504C>T ENST00000404816.2 + 26 4280 c.3927C>T c.(3925-3927)ttC>ttT p.F1309F LTBP1_ENST00000402934.1_Silent_p.F930F|LTBP1_ENST00000418533.2_Silent_p.F941F|LTBP1_ENST00000404525.1_Silent_p.F930F|LTBP1_ENST00000354476.3_Silent_p.F1310F|LTBP1_ENST00000272273.5_Silent_p.F207F|LTBP1_ENST00000390003.4_Silent_p.F984F|LTBP1_ENST00000407925.1_Silent_p.F983F Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1309 EGF-like 14; calcium-binding (Potential). 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) AAGGGTCCTTCCTGTGCGTGT 0.542000 34 63 0 0 0.005524 0 0 HCRTR2 3062 broad.mit.edu 37 6 55120098 55120098 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:55120098C>T ENST00000370862.3 + 3 903 c.567C>T c.(565-567)atC>atT p.I189I NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 189 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTCAGGCCATCGTCATGGAGT 0.502000 9 23 0 0 0.004482 0 0 ZNF558 148156 broad.mit.edu 37 19 8922239 8922239 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:8922239C>T ENST00000601372.1 - 10 1638 c.927G>A c.(925-927)caG>caA p.Q309Q ZNF558_ENST00000301475.1_Silent_p.Q309Q|ZNF558_ENST00000444186.2_Silent_p.Q238Q Q96NG5 ZN558_HUMAN zinc finger protein 558 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 TTCTTACGTGCTGTGTCAGAT 0.438000 14 50 0 0 0.001855 0 0 UGT2B7 7364 broad.mit.edu 37 4 69972921 69972921 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:69972921C>T ENST00000305231.7 + 4 1077 c.1031C>T c.(1030-1032)cCa>cTa p.P344L UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.P344L NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 344 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGAATAAACCAGATACCTTA 0.348000 23 20 0 0 0.003330 0 0 DENND3 22898 broad.mit.edu 37 8 142154307 142154307 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:142154307C>T ENST00000519811.1 + 5 754 c.684C>T c.(682-684)ttC>ttT p.F228F DENND3_ENST00000424248.1_Silent_p.F148F|DENND3_ENST00000262585.2_Silent_p.F148F A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 148 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) TAAAAGATTTCGCTGCGAAGC 0.368000 25 37 0 0 0.001061 0 0 ATP5F1 515 broad.mit.edu 37 1 112002251 112002251 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:112002251C>T ENST00000369722.3 + 6 1292 c.686C>T c.(685-687)aCa>aTa p.T229I ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.T168I NM_001688.4 NP_001679.2 P24539 AT5F1_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 229 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) AGCATCTCCACACAGCAGGTA 0.428000 9 15 0 0 0.000673 0 0 EIF4G3 8672 broad.mit.edu 37 1 21186888 21186888 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:21186888C>T ENST00000602326.1 - 22 3667 c.3084G>A c.(3082-3084)aaG>aaA p.K1028K EIF4G3_ENST00000374935.3_Silent_p.K742K|EIF4G3_ENST00000536266.1_Silent_p.K626K|EIF4G3_ENST00000374937.3_Silent_p.K1028K|EIF4G3_ENST00000400422.1_Silent_p.K1022K|EIF4G3_ENST00000264211.8_Silent_p.K1022K|EIF4G3_ENST00000537738.1_Silent_p.K512K NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1022 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTGGTCTTCTCTTCTCTTTGG 0.398000 69 65 0 0 0.003610 0 0 SLC25A16 8034 broad.mit.edu 37 10 70248341 70248341 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:70248341G>A ENST00000265870.2 - 7 754 c.656C>T c.(655-657)tCc>tTc p.S219F SLC25A16_ENST00000493963.1_5'UTR|SLC25A16_ENST00000539557.1_Missense_Mutation_p.S121F NM_152707.3 NP_689920.1 P16260 GDC_HUMAN solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 219 coenzyme biosynthetic process|pantothenate metabolic process integral to membrane|mitochondrial inner membrane binding|solute:solute antiporter activity endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 7 AGGAGCATGGGAAAGCCCAAC 0.378000 14 35 0 0 0.004007 0 0 ROR2 4920 broad.mit.edu 37 9 94486827 94486827 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:94486827C>T ENST00000375708.3 - 9 2147 c.1949G>A c.(1948-1950)gGg>gAg p.G650E ROR2_ENST00000375715.1_Missense_Mutation_p.G510E|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 650 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CAGCGAGTTCCCCAGCAGCTT 0.572000 17 21 0 0 0.000958 0 0 TMEM163 81615 broad.mit.edu 37 2 135470807 135470807 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:135470807G>A ENST00000281924.6 - 2 349 c.285C>T c.(283-285)tcC>tcT p.S95S NM_030923.4 NP_112185.1 Q8TC26 TM163_HUMAN transmembrane protein 163 95 integral to membrane endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.154) TGACAATGATGGAGAACCAGG 0.517000 28 51 0 0 0.001786 0 0 TXNRD2 10587 broad.mit.edu 37 22 19865663 19865663 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:19865663G>A ENST00000535882.1 - 16 1391 c.1392C>T c.(1390-1392)ttC>ttT p.F464F TXNRD2_ENST00000542719.1_Silent_p.F435F|TXNRD2_ENST00000400521.1_Silent_p.F465F|TXNRD2_ENST00000400519.1_Silent_p.F464F|TXNRD2_ENST00000400518.1_Silent_p.F435F|TXNRD2_ENST00000400525.1_Silent_p.F442F Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 465 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) TGGGGCCAAGGAAATGCAGGC 0.612000 8 30 0 0 0.000673 0 0 RANBP2 5903 broad.mit.edu 37 2 109382703 109382703 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:109382703C>T ENST00000283195.6 + 20 5834 c.5708C>T c.(5707-5709)tCg>tTg p.S1903L NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1903 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 TTTGGCATTTCGGAACCAGGA 0.408000 76 81 0 0 0.003610 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77528847 77528847 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:77528847G>A ENST00000477717.1 + 5 1202 c.967G>A c.(967-969)Gaa>Aaa p.E323K NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 323 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 CTGGAAACCAGAATCACTTGC 0.433000 15 18 0 0 0.000958 0 0 PKP2 5318 broad.mit.edu 37 12 33031073 33031073 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:33031073C>T ENST00000340811.4 - 3 849 c.741G>A c.(739-741)ggG>ggA p.G247G PKP2_ENST00000070846.6_Silent_p.G247G NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 247 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGCGGCTGGTCCCTGGCCTGG 0.622000 14 31 0 0 0.001855 0 0 COL2A1 1280 broad.mit.edu 37 12 48372520 48372520 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:48372520G>A ENST00000380518.3 - 42 2919 c.2755C>T c.(2755-2757)Ccc>Tcc p.P919S COL2A1_ENST00000337299.6_Missense_Mutation_p.P850S|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 919 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GGACCAGGGGGACCAGGGGGT 0.617000 10 32 0 0 0.000978 0 0 FLG 2312 broad.mit.edu 37 1 152286781 152286781 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:152286781C>T ENST00000368799.1 - 3 616 c.581G>A c.(580-582)gGa>gAa p.G194E FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 194 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G194A(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTATTGTCTCCTAATCTAGT 0.318000 Ichthyosis 36 77 0 0 0.003755 0 0 SETD3 84193 broad.mit.edu 37 14 99871664 99871664 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:99871664G>A ENST00000331768.5 - 10 1128 c.969C>T c.(967-969)atC>atT p.I323I NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 323 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) AACCACTGTGGATCACAAACT 0.398000 29 37 0 0 0.002096 0 0 HDGFRP3 50810 broad.mit.edu 37 15 83820057 83820057 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:83820057T>C ENST00000299633.4 - 5 1119 c.516A>G c.(514-516)aaA>aaG p.K172K NM_016073.3 NP_057157.1 Q9Y3E1 HDGR3_HUMAN 172 cell proliferation nucleus growth factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 TTTCCTCTTCTTTGCAGTCTT 0.408000 27 59 0 0 0.001061 0 0 ZNF559 84527 broad.mit.edu 37 19 9453434 9453434 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9453434C>T ENST00000393883.2 + 6 1955 c.1307C>T c.(1306-1308)cCt>cTt p.P436L ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.P356L|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.P436L|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.P500L|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602738.1_Intron NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 GCAGAAAGGCCTTTTGAATGT 0.418000 18 35 0 0 0.000958 0 0 STMN4 81551 broad.mit.edu 37 8 27097515 27097515 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:27097515G>A ENST00000350889.4 - 6 677 c.564C>T c.(562-564)gcC>gcT p.A188A STMN4_ENST00000523048.1_Silent_p.A188A|STMN4_ENST00000519997.1_Silent_p.A152A|STMN4_ENST00000519614.1_Silent_p.A161A|STMN4_ENST00000265770.7_Silent_p.A161A|STMN4_ENST00000522908.1_Silent_p.A188A NM_030795.2 NP_110422.2 Q9H169 STMN4_HUMAN stathmin-like 4 161 intracellular signal transduction endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 11 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) CCAACATGGCGGCGAGGTGGG 0.527000 19 52 0 0 0.001882 0 0 PELP1 27043 broad.mit.edu 37 17 4576309 4576309 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:4576309G>A ENST00000269230.7 - 19 1934 c.1709C>T c.(1708-1710)cCt>cTt p.P570L PELP1_ENST00000572293.1_Silent_p.P709P|PELP1_ENST00000436683.2_Silent_p.P512P|PELP1_ENST00000574876.1_Silent_p.P659P|PELP1_ENST00000301396.4_Silent_p.P803P Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 633 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 GGGCCCTGAAGGGCGATGGGG 0.706000 17 21 0 0 0.006122 0 0 CUX1 1523 broad.mit.edu 37 7 101840438 101840438 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:101840438C>T ENST00000360264.3 + 15 1800 c.1780C>T c.(1780-1782)Caa>Taa p.Q594* CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Nonsense_Mutation_p.Q583*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.Q481*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.Q481*|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Nonsense_Mutation_p.Q583*|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.Q583* NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 583 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GGGACTGTCTCAAGGGTCCGT 0.507000 36 92 0 0 0.004878 0 0 OBSCN 84033 broad.mit.edu 37 1 228491542 228491542 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:228491542G>A ENST00000570156.2 + 52 13979 c.13905G>A c.(13903-13905)agG>agA p.R4635R OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.R1325R|OBSCN_ENST00000284548.11_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3678 Ig-like 47. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACGGGACGAGGTGTGAGCTGC 0.602000 5 84 0 0 0.001168 0 0 CASS4 57091 broad.mit.edu 37 20 55027872 55027872 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:55027872T>C ENST00000371336.3 + 5 1841 c.1640T>C c.(1639-1641)cTt>cCt p.L547P CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.L547P NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 547 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CTGGAAGTTCTTGTGACTGAC 0.493000 33 55 0 0 0.004878 0 0 ZNF578 147660 broad.mit.edu 37 19 53014273 53014273 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:53014273C>T ENST00000421239.2 + 6 883 c.639C>T c.(637-639)ttC>ttT p.F213F NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATAATTTTTTCCATTCATCAT 0.358000 32 61 0 0 0.001786 0 0 TTN 7273 broad.mit.edu 37 2 179602934 179602934 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179602934C>T ENST00000589042.1 - 49 14470 c.14246G>A c.(14245-14247)cGa>cAa p.R4749Q TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R4432Q|TTN_ENST00000460472.2_Missense_Mutation_p.R4386Q|TTN_ENST00000359218.5_Missense_Mutation_p.R4511Q|TTN_ENST00000342992.6_Missense_Mutation_p.R3505Q|TTN_ENST00000342175.6_Missense_Mutation_p.R4578Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4432 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R4386Q(1)|p.R3505Q(1)|p.R4511Q(1)|p.R4578Q(1) 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) CTTTGAAGATCGAATAGAACA 0.463000 7 13 0 0 0.003080 0 0 POLQ 10721 broad.mit.edu 37 3 121215716 121215716 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:121215716C>T ENST00000264233.5 - 14 2345 c.2217G>A c.(2215-2217)caG>caA p.Q739Q NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 739 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ATCCATATTTCTGATTTATTT 0.368000 DNA polymerases (catalytic subunits) 34 64 0 0 0.002836 0 0 MYT1L 23040 broad.mit.edu 37 2 1926121 1926121 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:1926121G>A ENST00000399161.2 - 10 2167 c.1420C>T c.(1420-1422)Ccc>Tcc p.P474S MYT1L_ENST00000428368.2_Missense_Mutation_p.P474S NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 474 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) TCCTCCCCGGGAAGTTGTCTC 0.473000 41 43 0 0 0.002222 0 0 JAGN1 84522 broad.mit.edu 37 3 9934917 9934917 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:9934917C>T ENST00000307768.4 + 2 577 c.408C>T c.(406-408)taC>taT p.Y136Y NM_032492.3 NP_115881.3 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 (Drosophila) 136 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1) 10 Medulloblastoma(99;0.227) GCAAGGCCTACCGTTTCCTCT 0.522000 39 68 0 0 0.002852 0 0 SPIC 121599 broad.mit.edu 37 12 101876613 101876613 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:101876613C>T ENST00000551346.1 + 5 413 c.254C>T c.(253-255)tCt>tTt p.S85F SPIC_ENST00000299272.5_Missense_Mutation_p.S85F Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 85 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 ATTCATCAATCTCTGCAGAAC 0.403000 79 114 0 0 0.003610 0 0 SEC31B 25956 broad.mit.edu 37 10 102250017 102250017 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:102250017G>A ENST00000370345.3 - 21 2810 c.2713C>T c.(2713-2715)Cct>Tct p.P905S NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 905 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CATGTCCCAGGGAATCCCACC 0.542000 5 25 0 0 0.000602 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927235 53927235 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:53927235G>A ENST00000371445.3 + 2 722 c.667G>A c.(667-669)Ggc>Agc p.G223S DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 223 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 GTTCCCGCTGGGCTACCTGGA 0.667000 24 41 0 0 0.002780 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130938999 130938999 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:130938999G>A ENST00000509018.1 - 3 367 c.162C>T c.(160-162)cgC>cgT p.R54R RAPGEF6_ENST00000510071.1_Silent_p.R54R|RAPGEF6_ENST00000307984.5_Silent_p.R54R|RAPGEF6_ENST00000507093.1_Silent_p.R54R|RAPGEF6_ENST00000296859.6_Silent_p.R54R|FNIP1_ENST00000514667.1_Silent_p.R104R|RAPGEF6_ENST00000308008.6_Silent_p.R54R NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 54 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) ATCTCTCATAGCGTGCTCTTG 0.254000 7 125 0 0 0.004482 0 0 SPIB 6689 broad.mit.edu 37 19 50926083 50926083 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:50926083C>T ENST00000595883.1 + 4 153 c.128C>T c.(127-129)tCc>tTc p.S43F SPIB_ENST00000596074.1_Intron|SPIB_ENST00000270632.7_Missense_Mutation_p.S43F|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Missense_Mutation_p.S43F NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 43 TAD2. regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CCCCCAGACTCCCTGTGGGAC 0.647000 12 44 0 0 0.002450 0 0 CBY1 25776 broad.mit.edu 37 22 39064088 39064088 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:39064088C>T ENST00000216029.3 + 2 163 c.29C>T c.(28-30)cCg>cTg p.P10L RP3-508I15.9_ENST00000422408.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA NM_015373.3 NP_056188.1 Q9Y3M2 CBY1_HUMAN chibby homolog 1 (Drosophila) 10 cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization nuclear speck|trans-Golgi network beta-catenin binding|identical protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 Melanoma(58;0.04) ACGTTCAGTCCGAAGAAGACA 0.537000 12 36 0 0 0.001855 0 0 HLA-V 352962 broad.mit.edu 37 6 29760053 29760053 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:29760053G>A ENST00000457107.1 + 0 54 CTGCTCTCGGGGGCCCTGGTC 0.692000 4 17 0 0 0.001984 0 0 KRT18 3875 broad.mit.edu 37 12 53344144 53344144 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:53344144C>T ENST00000550600.1 + 3 504 c.450C>T c.(448-450)atC>atT p.I150I KRT18_ENST00000388835.3_Silent_p.I150I|KRT18_ENST00000388837.2_Silent_p.I150I P05783 K1C18_HUMAN keratin 18 150 Coil 1B.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 ATGCCCGCATCGTTCTGCAGA 0.512000 190 272 0 0 0.003610 0 0 HOXC10 3226 broad.mit.edu 37 12 54379302 54379302 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:54379302C>T ENST00000303460.4 + 1 333 c.259C>T c.(259-261)Cgc>Tgc p.R87C HOXC-AS3_ENST00000514702.1_RNA NM_017409.3 NP_059105.2 Q9NYD6 HXC10_HUMAN homeobox C10 87 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(14)|pancreas(1) 20 AGCCGCCTATCGCCTGGAACA 0.632000 18 58 0 0 0.001882 0 0 EXPH5 23086 broad.mit.edu 37 11 108409798 108409798 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:108409798C>T ENST00000265843.4 - 3 506 c.396G>A c.(394-396)agG>agA p.R132R EXPH5_ENST00000428840.1_Silent_p.R56R|EXPH5_ENST00000525344.1_Silent_p.R125R NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 132 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTCCAGATTTCCTGAATGAGA 0.423000 36 46 0 0 0.001485 0 0 BBS7 55212 broad.mit.edu 37 4 122774202 122774202 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:122774202C>T ENST00000264499.4 - 8 941 c.758G>A c.(757-759)gGg>gAg p.G253E BBS7_ENST00000506636.1_Missense_Mutation_p.G253E NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 253 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 ATCTTTAACCCCATCACCCAC 0.343000 Bardet-Biedl syndrome 18 18 0 0 0.004990 0 0 MACF1 23499 broad.mit.edu 37 1 39913438 39913438 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:39913438C>T ENST00000564288.1 + 82 20613 c.19836C>T c.(19834-19836)ttC>ttT p.F6612F MACF1_ENST00000289893.4_Silent_p.F5055F|MACF1_ENST00000317713.7_Silent_p.F4553F|MACF1_ENST00000361689.2_Silent_p.F4553F|MACF1_ENST00000567887.1_Silent_p.F6649F|MACF1_ENST00000372915.3_Silent_p.F6511F|MACF1_ENST00000539005.1_Silent_p.F4423F|MACF1_ENST00000545844.1_Silent_p.F4553F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6620 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AATTAAAGTTCCTTAGCCAAA 0.423000 33 64 0 0 0.003755 0 0 BTBD7 55727 broad.mit.edu 37 14 93708971 93708971 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:93708971T>C ENST00000334746.5 - 11 3354 c.3047A>G c.(3046-3048)cAt>cGt p.H1016R BTBD7_ENST00000554565.1_Missense_Mutation_p.H665R|BTBD7_ENST00000393170.2_Missense_Mutation_p.H590R NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 1016 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TCTGTGTAGATGCCCGTCAGG 0.502000 34 113 0 0 0.005524 0 0 CREBBP 1387 broad.mit.edu 37 16 3778043 3778043 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:3778043G>A ENST00000262367.5 - 31 7814 c.7005C>T c.(7003-7005)atC>atT p.I2335I CREBBP_ENST00000382070.3_Silent_p.I2297I NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2335 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GGGACGTGGCGATCTGCTGGC 0.647000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 39 82 0 0 0.005524 0 0 OSBPL7 114881 broad.mit.edu 37 17 45888181 45888181 + Silent SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:45888181G>T ENST00000007414.3 - 17 1949 c.1758C>A c.(1756-1758)atC>atA p.I586I OSBPL7_ENST00000392507.3_Silent_p.I586I NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 586 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GGCAGGCCGAGATAGGGGGGT 0.602000 5 8 0.00116845 0.00241915 0.001168 1 0 MSRA 4482 broad.mit.edu 37 8 10159066 10159066 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:10159066C>T ENST00000528246.1 + 5 779 c.156C>T c.(154-156)gtC>gtT p.V52V MSRA_ENST00000317173.4_Silent_p.V118V|MSRA_ENST00000441698.2_Silent_p.V78V|MSRA_ENST00000382490.5_Silent_p.V75V|MSRA_ENST00000518255.1_Silent_p.V118V NM_001199729.1 NP_001186658.1 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A 118 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) ATGCAGAAGTCGTCCGAGTGG 0.428000 25 57 0 0 0.001271 0 0 MXRA5 25878 broad.mit.edu 37 X 3242170 3242170 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:3242170G>A ENST00000217939.6 - 5 1710 c.1556C>T c.(1555-1557)tCc>tTc p.S519F NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 519 Ig-like C2-type 1. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTTCAGGATGGAGCCATCTGG 0.537000 14 15 0 0 0.003163 0 0 OR4K17 390436 broad.mit.edu 37 14 20585706 20585706 + Silent SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:20585706A>T ENST00000315543.4 + 1 141 c.141A>T c.(139-141)ggA>ggT p.G47G NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TTTTGCTGGGACTGACCAGCT 0.423000 22 109 0 0 0.003330 0 0 YLPM1 56252 broad.mit.edu 37 14 75248527 75248527 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:75248527C>T ENST00000325680.7 + 4 1905 c.1781C>T c.(1780-1782)cCt>cTt p.P594L YLPM1_ENST00000552421.1_Missense_Mutation_p.P594L|YLPM1_ENST00000238571.3_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CTCCCCCCACCTTCCCTGTCT 0.592000 25 38 0 0 0.001271 0 0 ZNF624 57547 broad.mit.edu 37 17 16525964 16525964 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:16525964G>A ENST00000311331.7 - 6 2327 c.2236C>T c.(2236-2238)Cat>Tat p.H746Y NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 746 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TCTCCACTATGGATTTTCTGA 0.418000 57 53 0 0 0.003610 0 0 ATP2B2 491 broad.mit.edu 37 3 10430058 10430058 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:10430058C>T ENST00000397077.1 - 8 1385 c.810G>A c.(808-810)cgG>cgA p.R270R ATP2B2_ENST00000352432.4_Silent_p.R270R|ATP2B2_ENST00000360273.2_Silent_p.R270R|ATP2B2_ENST00000383800.4_Silent_p.R270R|ATP2B2_ENST00000343816.4_Silent_p.R270R Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 270 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TCACCAACATCCGTCCTGAGC 0.507000 38 89 0 0 0.001951 0 0 CASR 846 broad.mit.edu 37 3 122002631 122002631 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:122002631G>A ENST00000498619.1 + 7 2298 c.1860G>A c.(1858-1860)gaG>gaA p.E620E CASR_ENST00000490131.1_Silent_p.E610E|CASR_ENST00000296154.5_Silent_p.E610E NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 610 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CGTGGACGGAGCCCTTTGGGA 0.532000 21 47 0 0 0.001523 0 0 MUC17 140453 broad.mit.edu 37 7 100693850 100693850 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:100693850G>A ENST00000306151.4 + 7 12872 c.12808G>A c.(12808-12810)Gaa>Aaa p.E4270K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4270 SEA. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.E4270K(1) 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) CAATGCCACCGAAGTAGTGAA 0.463000 30 45 0 0 0.001271 0 0 ZNF317 57693 broad.mit.edu 37 19 9271287 9271287 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9271287C>T ENST00000247956.6 + 7 1271 c.966C>T c.(964-966)atC>atT p.I322I ZNF317_ENST00000360385.3_Silent_p.I290I NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I322I(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 GCCACCTCATCGCACACAAGA 0.587000 7 59 0 0 0.004482 0 0 KLK8 11202 broad.mit.edu 37 19 51503258 51503258 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:51503258G>A ENST00000600767.1 - 5 976 c.487C>T c.(487-489)Ccc>Tcc p.P163S KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Missense_Mutation_p.P163S|KLK8_ENST00000391806.2_Missense_Mutation_p.P208S|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_Intron O60259 KLK8_HUMAN kallikrein-related peptidase 8 163 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) CTACCTCGGGGACTGGTGACA 0.612000 7 23 0 0 0.000443 0 0 TTN 7273 broad.mit.edu 37 2 179640917 179640917 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179640917C>T ENST00000589042.1 - 28 5898 c.5674G>A c.(5674-5676)Gat>Aat p.D1892N TTN_ENST00000591111.1_Missense_Mutation_p.D1892N|TTN_ENST00000360870.5_Missense_Mutation_p.D1892N|TTN_ENST00000460472.2_Missense_Mutation_p.D1846N|TTN_ENST00000359218.5_Missense_Mutation_p.D1846N|TTN_ENST00000342992.6_Missense_Mutation_p.D1892N|TTN_ENST00000342175.6_Missense_Mutation_p.D1846N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1607 Ig-like 9. 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) TGGATACCATCATAGCGAACT 0.483000 34 57 0 0 0.004878 0 0 MDN1 23195 broad.mit.edu 37 6 90387356 90387356 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:90387356G>A ENST00000369393.3 - 76 12587 c.12472C>T c.(12472-12474)Cat>Tat p.H4158Y MDN1_ENST00000428876.1_Missense_Mutation_p.H4158Y Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4158 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGGTGAAGATGAAGCATCTCT 0.428000 20 57 0 0 0.001216 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166434 180166434 + Missense_Mutation SNP G G A rs141289205 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:180166434G>A ENST00000307832.2 - 1 665 c.625C>T c.(625-627)Cct>Tct p.P209S NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTGCTGCAGGAACAGCCACG 0.522000 12 100 0 0 0.001368 0 0 MED12L 116931 broad.mit.edu 37 3 150908543 150908543 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:150908543A>G ENST00000474524.1 + 13 1831 c.1793A>G c.(1792-1794)aAc>aGc p.N598S MED12L_ENST00000309237.4_Missense_Mutation_p.N598S|MED12L_ENST00000422248.2_Missense_Mutation_p.N598S|MED12L_ENST00000273432.4_Missense_Mutation_p.N458S NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 598 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAATTTGTGAACCTGGTGCTG 0.438000 16 33 0 0 0.001216 0 0 ZNF407 55628 broad.mit.edu 37 18 72589239 72589239 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:72589239C>T ENST00000299687.5 + 4 4964 c.4964C>T c.(4963-4965)cCg>cTg p.P1655L ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Missense_Mutation_p.P1655L NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1655 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGAGAAAAGCCGTTTAAATGT 0.507000 28 35 0 0 0.005443 0 0 USP29 57663 broad.mit.edu 37 19 57641808 57641808 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:57641808G>A ENST00000254181.4 + 4 2219 c.1765G>A c.(1765-1767)Gat>Aat p.D589N USP29_ENST00000598197.1_Missense_Mutation_p.D589N NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 589 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 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;0.026) AGAATCCAGTGATTCCCTGGT 0.483000 27 41 0 0 0.004656 0 0 TTN 7273 broad.mit.edu 37 2 179473426 179473426 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179473426C>T ENST00000589042.1 - 274 52536 c.52312G>A c.(52312-52314)Gga>Aga p.G17438R TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15797R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8373R|TTN_ENST00000359218.5_Missense_Mutation_p.G8498R|TTN_ENST00000342992.6_Missense_Mutation_p.G14870R|TTN_ENST00000342175.6_Missense_Mutation_p.G8565R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15797 Fibronectin type-III 26. 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) TACTCTTTTCCTTCAATCAGT 0.398000 5 4 0 0 0.000602 0 0 PCLO 27445 broad.mit.edu 37 7 82583985 82583985 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:82583985G>A ENST00000423517.2 - 5 6621 c.6284C>T c.(6283-6285)aCc>aTc p.T2095I PCLO_ENST00000333891.8_Missense_Mutation_p.T2095I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2026 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 AAAGTCCATGGTGGACTCTGT 0.488000 10 32 0 0 0.001368 0 0 C12orf42 374470 broad.mit.edu 37 12 103699882 103699882 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:103699882C>T ENST00000548048.1 - 8 796 c.300G>A c.(298-300)ttG>ttA p.L100L C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Silent_p.L167L|C12orf42_ENST00000378113.2_Silent_p.L167L|C12orf42_ENST00000315192.8_Intron Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 167 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CCAGTTGTTCCAAAAATGAAC 0.493000 11 28 0 0 0.000673 0 0 OR2B11 127623 broad.mit.edu 37 1 247614961 247614961 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:247614961G>A ENST00000318749.6 - 1 347 c.324C>T c.(322-324)ttC>ttT p.F108F NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCAGCCAGTGGAAGACTGCAT 0.592000 41 32 0 0 0.002852 0 0 CTNNA2 1496 broad.mit.edu 37 2 80835431 80835431 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:80835431C>T ENST00000466387.1 + 21 3142 c.2418C>T c.(2416-2418)ctC>ctT p.L806L CTNNA2_ENST00000343114.3_Silent_p.L485L|CTNNA2_ENST00000496558.1_Silent_p.L806L|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Silent_p.L806L|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000361291.4_Silent_p.L840L|CTNNA2_ENST00000541047.1_Silent_p.L806L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 806 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GAGGAGAGCTCATTGTGTCAG 0.458000 6 7 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9046526 9046526 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9046526G>A ENST00000397910.4 - 5 35308 c.35105C>T c.(35104-35106)tCc>tTc p.S11702F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11704 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 GGTTGTTCTGGAAACAGGTGT 0.507000 18 67 0 0 0.001216 0 0 SOHLH2 54937 broad.mit.edu 37 13 36765966 36765966 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:36765966G>A ENST00000379881.3 - 5 584 c.496C>T c.(496-498)Cac>Tac p.H166Y SOHLH2_ENST00000554962.1_Missense_Mutation_p.H243Y|SOHLH2_ENST00000317764.6_Missense_Mutation_p.H166Y|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.H243Y NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) TATCCCAGGTGTTCGCTGTAG 0.378000 37 41 0 0 0.002522 0 0 ZNF253 56242 broad.mit.edu 37 19 20002699 20002699 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:20002699C>T ENST00000589717.1 + 4 735 c.643C>T c.(643-645)Ctt>Ttt p.L215F ZNF253_ENST00000355650.4_Missense_Mutation_p.L139F NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 215 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATCTGCAAACCTTACTACACA 0.388000 12 27 0 0 0.000978 0 0 OR51S1 119692 broad.mit.edu 37 11 4869916 4869916 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:4869916G>A ENST00000322101.2 - 1 598 c.523C>T c.(523-525)Ccc>Tcc p.P175S MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 175 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) AGGCAGTAGGGCATGTAGGCC 0.542000 27 98 0 0 0.001786 0 0 ADCY7 113 broad.mit.edu 37 16 50347965 50347965 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:50347965G>A ENST00000394697.2 + 23 3188 c.2848G>A c.(2848-2850)Gag>Aag p.E950K ADCY7_ENST00000254235.3_Missense_Mutation_p.E950K P51828 ADCY7_HUMAN adenylate cyclase 7 950 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CTCAGGGCACGAGAACCAGGT 0.552000 12 26 0 0 0.001368 0 0 KIF19 124602 broad.mit.edu 37 17 72338033 72338033 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:72338033C>T ENST00000389916.4 + 3 277 c.139C>T c.(139-141)Cca>Tca p.P47S NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 47 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 TCTCATGGACCCAATGGAGGA 0.617000 36 81 0 0 0.004289 0 0 AXL 558 broad.mit.edu 37 19 41745213 41745213 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:41745213C>T ENST00000301178.4 + 9 1469 c.1279C>T c.(1279-1281)Cgc>Tgc p.R427C AXL_ENST00000593513.1_Missense_Mutation_p.R159C|AXL_ENST00000359092.3_Missense_Mutation_p.R427C NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 427 Fibronectin type-III 2. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GGAGGCCTGGCGCCCAGGTAA 0.592000 13 48 0 0 0.001855 0 0 CD300E 342510 broad.mit.edu 37 17 72619781 72619781 + Nonsense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:72619781C>A ENST00000392619.1 - 1 96 c.61G>T c.(61-63)Gga>Tga p.G21* CD300E_ENST00000426295.2_Nonsense_Mutation_p.G35*|CD300E_ENST00000328630.3_5'UTR NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 0 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 CCTTGGCTTCCGTCCTCAGCA 0.527000 5 110 0.00116845 0.00241915 0.001168 1 0 RP11-909M7.3 0 broad.mit.edu 37 14 101434481 101434481 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:101434481C>T ENST00000554693.2 + 0 135 SNORD114-11_ENST00000363738.1_RNA GTGTGTGAGTCATGCACAGTG 0.413000 7 8 0 0 0.000443 0 0 CDK11A 728642 broad.mit.edu 37 1 1635549 1635549 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:1635549G>A ENST00000356200.3 - 15 1855 c.1621C>T c.(1621-1623)Cct>Tct p.P541S CDK11A_ENST00000358779.5_Missense_Mutation_p.P565S|CDK11A_ENST00000378633.1_Missense_Mutation_p.P578S|CDK11A_ENST00000357760.2_Missense_Mutation_p.P574S|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_Intron|CDK11A_ENST00000404249.3_Missense_Mutation_p.P575S|CDK11A_ENST00000378638.2_Missense_Mutation_p.P541S cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 GCCTTCAGAGGGGATCCGTAC 0.682000 8 7 0 0 0.003080 0 0 STAT4 6775 broad.mit.edu 37 2 191905794 191905794 + Silent SNP C C T rs66818798 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:191905794C>T ENST00000392320.2 - 15 1646 c.1332G>A c.(1330-1332)ttG>ttA p.L444L STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Silent_p.L444L NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 444 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L444F(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) CACCTACCTCCAAATCTATGG 0.383000 37 72 0 0 0.001287 0 0 BZRAP1 9256 broad.mit.edu 37 17 56404061 56404061 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:56404061C>T ENST00000355701.3 - 2 1294 c.424G>A c.(424-426)Gag>Aag p.E142K BZRAP1_ENST00000268893.6_Missense_Mutation_p.E142K|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E142K NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 142 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGTTTTCCTCCTTAAGGATG 0.617000 23 58 0 0 0.005443 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229300 8229300 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:8229300G>A ENST00000539824.1 + 12 2025 c.1651G>A c.(1651-1653)Gcc>Acc p.A551T SH3TC1_ENST00000245105.3_Missense_Mutation_p.A627T Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 627 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GGTGCCCAAAGCCATGGCCCT 0.662000 20 49 0 0 0.000958 0 0 CAMK2G 818 broad.mit.edu 37 10 75607824 75607824 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:75607824G>A ENST00000423381.1 - 9 741 c.618C>T c.(616-618)atC>atT p.I206I CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Silent_p.I206I|CAMK2G_ENST00000372765.1_Silent_p.I206I|CAMK2G_ENST00000351293.3_Silent_p.I206I|CAMK2G_ENST00000322635.3_Silent_p.I206I|CAMK2G_ENST00000322680.3_Silent_p.I206I|CAMK2G_ENST00000305762.7_Silent_p.I206I NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma 206 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) CCACCAGGAGGATATACAGGA 0.547000 24 84 0 0 0.003330 0 0 CASC5 57082 broad.mit.edu 37 15 40942525 40942525 + Nonsense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:40942525A>T ENST00000346991.5 + 19 6589 c.6199A>T c.(6199-6201)Aaa>Taa p.K2067* CASC5_ENST00000399668.2_Nonsense_Mutation_p.K2041* Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 2067 Necessary for kinetochore localization and for interaction with NSL1 and DSN1. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) GGATGAAGAGAAAAACAATCC 0.333000 46 128 0 0 0.003610 0 0 ZNF66 7617 broad.mit.edu 37 19 20959256 20959256 + Translation_Start_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:20959256G>A ENST00000360204.5 + 0 147 ZNF66_ENST00000344519.8_Splice_Site_p.M1_splice|ZNF66_ENST00000594534.1_Splice_Site_p.M1_splice GCCTAGAAATGGTGAGAGTGC 0.592000 8 42 0 0 0.000443 0 0 PDE11A 50940 broad.mit.edu 37 2 178592807 178592807 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:178592807G>A ENST00000286063.5 - 11 2199 c.1882C>T c.(1882-1884)Ctc>Ttc p.L628F PDE11A_ENST00000389683.3_Missense_Mutation_p.L184F|PDE11A_ENST00000409504.1_Missense_Mutation_p.L270F|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.L270F|PDE11A_ENST00000358450.4_Missense_Mutation_p.L378F NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 628 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) AACATCCGGAGAGCAGCTGTG 0.463000 Primary Pigmented Nodular Adrenocortical Disease, Familial 7 5 0 0 0.001984 0 0 SAMD7 344658 broad.mit.edu 37 3 169644830 169644830 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:169644830G>A ENST00000428432.2 + 6 1169 c.780G>A c.(778-780)agG>agA p.R260R SAMD7_ENST00000335556.3_Silent_p.R260R NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 260 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CCACCCATAGGAAACCCTGGG 0.522000 20 56 0 0 0.002780 0 0 CUX1 1523 broad.mit.edu 37 7 101840399 101840399 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:101840399G>A ENST00000360264.3 + 15 1761 c.1741G>A c.(1741-1743)Gga>Aga p.G581R CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G570R|CUX1_ENST00000546411.2_Missense_Mutation_p.G468R|CUX1_ENST00000556210.1_Missense_Mutation_p.G468R|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G570R|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G570R NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 570 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GCACAATATCGGACAACGTAT 0.542000 46 108 0 0 0.003610 0 0 SENP5 205564 broad.mit.edu 37 3 196613461 196613461 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:196613461C>T ENST00000323460.5 + 2 1658 c.1409C>T c.(1408-1410)cCc>cTc p.P470L SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.P470L NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 470 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) CTGGAGGCTCCCTTGGTGTGC 0.478000 31 35 0 0 0.001786 0 0 RP11-87F15.2 0 broad.mit.edu 37 4 177241089 177241089 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:177241089G>A ENST00000512634.1 - 0 314 CGGAGGACCGGAAAGGAGGCG 0.791000 5 3 0 0 0.001984 0 0 STARD8 9754 broad.mit.edu 37 X 67937434 67937434 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:67937434A>G ENST00000252336.6 + 5 810 c.438A>G c.(436-438)caA>caG p.Q146Q STARD8_ENST00000374599.3_Silent_p.Q226Q|STARD8_ENST00000374597.3_Silent_p.Q146Q NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 146 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 GCAGCCAGCAAGCAGAGCCCA 0.552000 19 8 0 0 0.006122 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476474 42476474 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:42476474C>T ENST00000434000.1 - 9 3019 c.2737G>A c.(2737-2739)Gac>Aac p.D913N GPATCH8_ENST00000591680.1_Missense_Mutation_p.D991N Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 991 Ser-rich. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CGGCTGCGGTCCCGGCTATAG 0.647000 15 9 0 0 0.002450 0 0 ETS2 2114 broad.mit.edu 37 21 40191655 40191655 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:40191655C>T ENST00000360214.3 + 9 1500 c.1040C>T c.(1039-1041)cCa>cTa p.P347L ETS2_ENST00000360938.3_Missense_Mutation_p.P347L NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 347 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CAAGGCAAACCAGTTATACCT 0.552000 6 12 0 0 0.001168 0 0 AMHR2 269 broad.mit.edu 37 12 53819593 53819593 + Missense_Mutation SNP G G A rs146554515 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:53819593G>A ENST00000257863.4 + 6 822 c.742G>A c.(742-744)Gaa>Aaa p.E248K AMHR2_ENST00000379791.3_Missense_Mutation_p.E248K|AMHR2_ENST00000550311.1_Missense_Mutation_p.E248K NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 248 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding p.E248K(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) AGCATTGTACGAACTTCCAGG 0.597000 9 39 0 0 0.004482 0 0 ALB 213 broad.mit.edu 37 4 74282062 74282062 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:74282062C>T ENST00000295897.4 + 10 1370 c.1281C>T c.(1279-1281)ttC>ttT p.F427F ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.F235F|ALB_ENST00000503124.1_Silent_p.F277F|ALB_ENST00000509063.1_Silent_p.F427F|ALB_ENST00000401494.3_Silent_p.F312F NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 427 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AGTACAAATTCCAGAATGCGT 0.299000 11 9 0 0 0.001368 0 0 ANKRD11 29123 broad.mit.edu 37 16 89350734 89350734 + Missense_Mutation SNP G G A rs146294483 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:89350734G>A ENST00000301030.4 - 9 2676 c.2216C>T c.(2215-2217)tCg>tTg p.S739L ANKRD11_ENST00000378330.2_Missense_Mutation_p.S739L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 739 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGCTTTATTCGAACGGTCTTT 0.388000 35 67 0 0 0.003755 0 0 ZNF99 7652 broad.mit.edu 37 19 22941440 22941440 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:22941440G>A ENST00000397104.3 - 5 997 c.998C>T c.(997-999)cCc>cTc p.P333L ZNF99_ENST00000596209.1_Missense_Mutation_p.P424L zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACATTTGCAGGGTTTCTCTGC 0.373000 13 30 0 0 0.001855 0 0 CD1D 912 broad.mit.edu 37 1 158152832 158152832 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158152832G>A ENST00000368171.3 + 5 1271 c.772G>A c.(772-774)Gac>Aac p.D258N NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 258 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) GCCCAATGCTGACGAGACATG 0.602000 21 73 0 0 0.002299 0 0 NEB 4703 broad.mit.edu 37 2 152388399 152388399 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:152388399C>T ENST00000397345.3 - 144 21631 c.21429G>A c.(21427-21429)agG>agA p.R7143R NEB_ENST00000604864.1_Silent_p.R7143R|NEB_ENST00000172853.10_Silent_p.R5442R|NEB_ENST00000603639.1_Silent_p.R7143R|NEB_ENST00000409198.1_Silent_p.R5442R|NEB_ENST00000427231.2_Silent_p.R7143R NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5442 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CATAGTTTTTCCTGTATTTGA 0.373000 4 20 0 0 0.000248 0 0 EPAS1 2034 broad.mit.edu 37 2 46611732 46611732 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:46611732C>T ENST00000263734.3 + 16 3056 c.2546C>T c.(2545-2547)cCc>cTc p.P849L NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 849 CTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GTGAACGTGCCCGTGCTGGGA 0.632000 13 39 0 0 0.001855 0 0 TNR 7143 broad.mit.edu 37 1 175323626 175323626 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:175323626G>A ENST00000367674.1 - 18 3991 c.3283C>T c.(3283-3285)Cga>Tga p.R1095* TNR_ENST00000263525.2_Nonsense_Mutation_p.R1095* NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1095 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCCTCCAGTCGAATCCAGGTG 0.552000 50 48 0 0 0.003610 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475968 140475968 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:140475968C>T ENST00000194155.4 + 1 1742 c.1594C>T c.(1594-1596)Cgc>Tgc p.R532C NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 532 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCGAGTTCCGCGTGGGCGC 0.692000 25 44 0 0 0.003330 0 0 SCN11A 11280 broad.mit.edu 37 3 38988316 38988316 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:38988316G>A ENST00000302328.3 - 2 548 c.350C>T c.(349-351)tCa>tTa p.S117L SCN11A_ENST00000444237.2_Missense_Mutation_p.S117L|SCN11A_ENST00000450244.1_Missense_Mutation_p.S117L|SCN11A_ENST00000456224.3_Missense_Mutation_p.S117L NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 117 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACTTCTGATTGAATTGAAAGG 0.403000 37 78 0 0 0.004878 0 0 DEFB110 245913 broad.mit.edu 37 6 49989596 49989596 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:49989596G>A ENST00000371148.2 - 1 98 c.53C>T c.(52-54)cCa>cTa p.P18L DEFB110_ENST00000393660.2_Missense_Mutation_p.P18L NM_001037497.1 NP_001032586.1 Q30KQ9 DB110_HUMAN defensin, beta 110 locus 18 defense response to bacterium extracellular region endometrium(1)|lung(1)|ovary(1) 3 Lung NSC(77;0.042) CATATTACCTGGTAAAATTGT 0.303000 6 21 0 0 0.001168 0 0 DSC1 1823 broad.mit.edu 37 18 28710629 28710629 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:28710629C>T ENST00000257198.5 - 16 2794 c.2533G>A c.(2533-2535)Gac>Aac p.D845N DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA NM_024421.2 NP_077739.1 Q08554 DSC1_HUMAN desmocollin 1 845 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CAAACGTAGTCTTCACAATGT 0.393000 12 17 0 0 0.001368 0 0 SLC23A2 9962 broad.mit.edu 37 20 4839988 4839988 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:4839988G>T ENST00000379333.1 - 16 2059 c.1667C>A c.(1666-1668)aCt>aAt p.T556N SLC23A2_ENST00000424750.2_Missense_Mutation_p.T442N|SLC23A2_ENST00000338244.1_Missense_Mutation_p.T556N NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 556 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 AAACATAGCAGTTGTGAGAAG 0.428000 83 125 1.14069e-49 2.40801e-49 0.003610 1 0 DNAH5 1767 broad.mit.edu 37 5 13900349 13900349 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:13900349C>T ENST00000265104.4 - 15 2329 c.2225G>A c.(2224-2226)cGa>cAa p.R742Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 742 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTATCTATCTCGTTTCTGGAA 0.388000 Kartagener syndrome 15 29 0 0 0.004007 0 0 GPR98 84059 broad.mit.edu 37 5 90015894 90015894 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:90015894G>A ENST00000405460.2 + 44 9573 c.9477G>A c.(9475-9477)acG>acA p.T3159T NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3159 Calx-beta 22. 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) TATTAGACACGGAACCAGAAA 0.363000 20 135 0 0 0.005443 0 0 SGSM1 129049 broad.mit.edu 37 22 25289463 25289463 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:25289463C>T ENST00000400358.4 + 17 1893 c.1836C>T c.(1834-1836)atC>atT p.I612I SGSM1_ENST00000400359.4_Silent_p.I667I NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 667 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GCGAGGCGATCGTGCGGCAGA 0.642000 23 26 0 0 0.003954 0 0 SLC5A12 159963 broad.mit.edu 37 11 26708086 26708086 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:26708086A>G ENST00000396005.3 - 10 1468 c.1159T>C c.(1159-1161)Tta>Cta p.L387L NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 387 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 ACGCCAAATAAGAGACCTGAA 0.453000 8 16 0 0 0.003080 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514565 113514565 + Missense_Mutation SNP G G A rs76184593 by1000genomes TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:113514565G>A ENST00000302450.6 - 4 461 c.383C>T c.(382-384)tCg>tTg p.S128L CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_5'UTR NM_152515.3 NP_689728.3 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 128 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TGTTGTGGACGATCCAGCTTC 0.413000 68 86 0 0 0.003610 0 0 SELPLG 6404 broad.mit.edu 37 12 109017754 109017754 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:109017754C>T ENST00000388962.3 - 2 489 c.330G>A c.(328-330)ggG>ggA p.G110G SELPLG_ENST00000228463.6_Silent_p.G126G|SELPLG_ENST00000550948.1_Silent_p.G110G NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 110 blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 TGGACAGGTTCCCCATGTTGG 0.607000 10 56 0 0 0.000673 0 0 TSPAN16 26526 broad.mit.edu 37 19 11411966 11411966 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:11411966G>A ENST00000316737.1 + 4 582 c.432G>A c.(430-432)tgG>tgA p.W144* TSPAN16_ENST00000592955.1_Nonsense_Mutation_p.W119*|TSPAN16_ENST00000590327.1_Nonsense_Mutation_p.W144*|CTC-510F12.4_ENST00000586356.1_RNA NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 144 integral to membrane breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 CTACACAGTGGAACTTGGTCA 0.473000 26 36 0 0 0.001271 0 0 C1orf110 339512 broad.mit.edu 37 1 162824779 162824779 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:162824779T>C ENST00000367910.1 - 4 805 c.685A>G c.(685-687)Aaa>Gaa p.K229E C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron NM_178550.4 NP_848645.3 Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 229 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 TCCATGTGTTTTGGGGGAATT 0.473000 45 30 0 0 0.002222 0 0 SVEP1 79987 broad.mit.edu 37 9 113173840 113173840 + Missense_Mutation SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:113173840A>C ENST00000401783.2 - 37 6487 c.6151T>G c.(6151-6153)Tac>Gac p.Y2051D SVEP1_ENST00000374469.1_Missense_Mutation_p.Y2028D|SVEP1_ENST00000297826.5_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2051 Sushi 11. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCTAGGCTGTAACCATCAGAG 0.537000 10 13 0 0 0.000443 0 0 USP46 64854 broad.mit.edu 37 4 53468187 53468187 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:53468187G>A ENST00000441222.2 - 7 940 c.756C>T c.(754-756)gcC>gcT p.A252A USP46_ENST00000508499.1_Silent_p.A245A|USP46_ENST00000451218.2_Silent_p.A225A NM_022832.3 NP_073743.2 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 252 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2) 12 LUSC - Lung squamous cell carcinoma(32;0.0295) TTAGGTGCAGGGCCAAGATCA 0.473000 38 71 0 0 0.001706 0 0 KRTAP6-3 337968 broad.mit.edu 37 21 31964965 31964965 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:31964965C>T ENST00000391624.1 + 1 207 c.180C>T c.(178-180)tcC>tcT p.S60S NM_181605.3 NP_853636.3 keratin associated protein 6-3 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7) 10 gctatggctccttctgtggct 0.612000 6 12 0 0 0.001984 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7660993 7660993 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:7660993C>T ENST00000299492.4 + 15 1655 c.1267C>T c.(1267-1269)Ccc>Tcc p.P423S PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P280S|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P311S|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P265S NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 423 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GCACAAATATCCCACTTTACC 0.537000 79 114 0 0 0.003610 0 0 PROX1 5629 broad.mit.edu 37 1 214170240 214170240 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:214170240C>T ENST00000366958.4 + 2 970 c.362C>T c.(361-363)tCc>tTc p.S121F PROX1_ENST00000498508.2_Missense_Mutation_p.S121F|PROX1_ENST00000261454.4_Missense_Mutation_p.S121F|PROX1_ENST00000435016.1_Missense_Mutation_p.S121F NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 121 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) AGTACAGGCTCCGAAGTACAT 0.488000 106 82 0 0 0.003610 0 0 SLC9C2 284525 broad.mit.edu 37 1 173567069 173567069 + Missense_Mutation SNP A A C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:173567069A>C ENST00000367714.3 - 4 753 c.331T>G c.(331-333)Tat>Gat p.Y111D SLC9C2_ENST00000536496.1_Missense_Mutation_p.Y9D|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 111 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TTGAGTGTATAAAATTCTACA 0.318000 5 190 0 0 0.000602 0 0 ZNF595 152687 broad.mit.edu 37 4 60001 60001 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:60001G>A ENST00000509152.2 + 3 366 c.181G>A c.(181-183)Gag>Aag p.E61K ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E61K zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GCAAATAAAAGAGCCCTGCAA 0.448000 5 134 0 0 0.000602 0 0 SCN10A 6336 broad.mit.edu 37 3 38743371 38743371 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:38743371C>T ENST00000449082.2 - 26 4615 c.4616G>A c.(4615-4617)tGg>tAg p.W1539* NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1539 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AAACACATTCCAGCCATTTGT 0.498000 13 28 0 0 0.001855 0 0 EIF2B3 8891 broad.mit.edu 37 1 45392316 45392316 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:45392316C>T ENST00000360403.2 - 5 676 c.550G>A c.(550-552)Gga>Aga p.G184R EIF2B3_ENST00000372183.3_Missense_Mutation_p.G184R|EIF2B3_ENST00000480675.1_5'UTR NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 184 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) AGGATGGATCCCTTAATGACC 0.458000 45 78 0 0 0.002852 0 0 CES1 1066 broad.mit.edu 37 16 55855416 55855416 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:55855416C>T ENST00000422046.2 - 5 835 c.554G>A c.(553-555)aGc>aAc p.S185N CES1_ENST00000360526.3_Missense_Mutation_p.S186N|CES1_ENST00000361503.4_Missense_Mutation_p.S185N|CES1_ENST00000566555.1_5'UTR P23141 EST1_HUMAN carboxylesterase 1 185 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GTTCCCCCGGCTGTGTTCATC 0.597000 10 19 0 0 0.001368 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72190579 72190579 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:72190579C>T ENST00000555818.1 + 16 4835 c.4487C>T c.(4486-4488)tCc>tTc p.S1496F SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S950F|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1475F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1475F NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1496 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity p.S1496F(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACCATAAACTCCGTGGGATTT 0.478000 20 75 0 0 0.001216 0 0 OR6N1 128372 broad.mit.edu 37 1 158735659 158735659 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158735659G>A ENST00000335094.2 - 1 833 c.814C>T c.(814-816)Cag>Tag p.Q272* NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GCCAGGGCCTGGTCATAGTCC 0.537000 27 143 0 0 0.005443 0 0 ICOS 29851 broad.mit.edu 37 2 204820508 204820508 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:204820508G>A ENST00000316386.6 + 2 275 c.208G>A c.(208-210)Gga>Aga p.G70R ICOS_ENST00000435193.1_Missense_Mutation_p.G70R NM_012092.3 NP_036224.1 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator 70 Ig-like V-type. immune response|T cell costimulation extracellular region breast(1)|large_intestine(1)|lung(4) 6 TAAGACAAAAGGAAGTGGAAA 0.383000 15 27 0 0 0.004990 0 0 TRPC3 7222 broad.mit.edu 37 4 122833196 122833196 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:122833196G>A ENST00000264811.5 - 4 1593 c.1175C>T c.(1174-1176)tCt>tTt p.S392F TRPC3_ENST00000379645.3_Missense_Mutation_p.S465F|TRPC3_ENST00000513531.1_Missense_Mutation_p.S337F NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 380 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GATGATGAAAGAAGCTGCATG 0.448000 6 7 0 0 0.001168 0 0 GTDC1 79712 broad.mit.edu 37 2 144764978 144764978 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:144764978T>G ENST00000409214.1 - 7 924 c.646A>C c.(646-648)Aag>Cag p.K216Q GTDC1_ENST00000542155.1_Missense_Mutation_p.K216Q|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000344850.4_Missense_Mutation_p.K216Q|GTDC1_ENST00000392867.3_Missense_Mutation_p.K216Q|GTDC1_ENST00000241391.5_Missense_Mutation_p.K216Q|GTDC1_ENST00000392869.1_Missense_Mutation_p.K216Q|GTDC1_ENST00000463875.2_Missense_Mutation_p.K87Q NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 216 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) TTAAAATTCTTCAATAAATCC 0.418000 5 20 0 0 0.001168 0 0 WDR62 284403 broad.mit.edu 37 19 36557283 36557283 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:36557283C>T ENST00000401500.2 + 5 550 c.515C>T c.(514-516)tCc>tTc p.S172F WDR62_ENST00000270301.7_Missense_Mutation_p.S172F|WDR62_ENST00000388999.3_Missense_Mutation_p.S172F|WDR62_ENST00000378860.4_3'UTR NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 172 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CACATCGTGTCCATGGGCTAC 0.562000 5 14 0 0 0.000602 0 0 GCOM1 145781 broad.mit.edu 37 15 57925814 57925814 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:57925814G>A ENST00000574161.1 + 8 927 c.808G>A c.(808-810)Gaa>Aaa p.E270K GCOM1_ENST00000380568.3_Missense_Mutation_p.E270K|GCOM1_ENST00000587652.1_Missense_Mutation_p.E270K|MYZAP_ENST00000267853.5_Missense_Mutation_p.E270K|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.E270K|GCOM1_ENST00000572390.1_Missense_Mutation_p.E270K|GCOM1_ENST00000380561.2_Missense_Mutation_p.E239K|GCOM1_ENST00000380569.2_Missense_Mutation_p.E270K|GCOM1_ENST00000380560.2_Missense_Mutation_p.E201K|GCOM1_ENST00000396180.1_Missense_Mutation_p.E239K NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 270 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TTTGCAGGAAGAAACCAATAG 0.473000 16 66 0 0 0.000958 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975907 76975907 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:76975907G>A ENST00000409911.1 - 3 1913 c.1690C>T c.(1690-1692)Ctg>Ttg p.L564L LRRTM4_ENST00000409093.1_Silent_p.L563L|LRRTM4_ENST00000409884.1_Silent_p.L563L NM_001134745.1 NP_001128217.1 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 563 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) CCCAGCTCCAGGCCGGGGCTT 0.597000 18 106 0 0 0.001523 0 0 SOGA2 23255 broad.mit.edu 37 18 8825784 8825784 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:8825784C>T ENST00000359865.3 + 15 4418 c.4276C>T c.(4276-4278)Cgc>Tgc p.R1426C SOGA2_ENST00000400050.3_Missense_Mutation_p.R1385C|SOGA2_ENST00000306329.11_Missense_Mutation_p.R1745C|SOGA2_ENST00000306285.7_Missense_Mutation_p.R751C|SOGA2_ENST00000517570.1_Missense_Mutation_p.R1385C|SOGA2_ENST00000518815.1_Missense_Mutation_p.R751C NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1736 AGCCTGGGCCCGCTCCACCAC 0.607000 14 20 0 0 0.004007 0 0 UBR1 197131 broad.mit.edu 37 15 43347094 43347094 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:43347094G>A ENST00000290650.4 - 12 1363 c.1285C>T c.(1285-1287)Cga>Tga p.R429* UBR1_ENST00000382177.2_Nonsense_Mutation_p.R429* NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 429 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ATAAGATGTCGAGCCTGCGGA 0.328000 22 41 0 0 0.002299 0 0 PCDH7 5099 broad.mit.edu 37 4 30724721 30724721 + Silent SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:30724721G>T ENST00000361762.2 + 1 2685 c.1677G>T c.(1675-1677)gcG>gcT p.A559A PCDH7_ENST00000543491.1_Silent_p.A559A NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 559 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 CGGTGCTGGCGACAGACGCAG 0.607000 22 15 6.33239e-15 1.32848e-14 0.001523 1 0 TMEM127 55654 broad.mit.edu 37 2 96919815 96919815 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:96919815C>T ENST00000258439.2 - 4 704 c.448G>A c.(448-450)Gct>Act p.A150T TMEM127_ENST00000435268.1_Missense_Mutation_p.A66T|TMEM127_ENST00000432959.1_Missense_Mutation_p.A150T NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 150 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 AGTTCAGAAGCCCAATAAGAA 0.527000 6 91 0 0 0.001168 0 0 CD86 942 broad.mit.edu 37 3 121828124 121828124 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:121828124C>T ENST00000330540.2 + 5 832 c.716C>T c.(715-717)cCt>cTt p.P239L CD86_ENST00000469710.1_Missense_Mutation_p.P157L|CD86_ENST00000493101.1_Missense_Mutation_p.P127L|CD86_ENST00000393627.2_Missense_Mutation_p.P233L|CD86_ENST00000264468.5_Missense_Mutation_p.P26L NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 239 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CTTGAGGACCCTCAGCCTCCC 0.418000 17 44 0 0 0.001523 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518229 84518229 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:84518229G>A ENST00000331369.5 + 0 423 GATTGGCAACGAGTGGAGAAG 0.483000 26 33 0 0 0.003330 0 0 OR2T11 127077 broad.mit.edu 37 1 248789505 248789505 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:248789505G>A ENST00000330803.2 - 1 986 c.925C>T c.(925-927)Cag>Tag p.Q309* NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 309 Q -> R (in dbSNP:rs1892442). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) GCTACTTTCTGAGCAGATGAG 0.463000 20 74 0 0 0.002299 0 0 MYO5C 55930 broad.mit.edu 37 15 52539151 52539151 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:52539151G>A ENST00000261839.7 - 16 2103 c.1942C>T c.(1942-1944)Cga>Tga p.R648* MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 648 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TTGATGCATCGAACGTAGTGG 0.468000 33 77 0 0 0.001706 0 0 CACNA1E 777 broad.mit.edu 37 1 181689432 181689432 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:181689432C>T ENST00000526775.1 + 14 2007 c.1842C>T c.(1840-1842)atC>atT p.I614I CACNA1E_ENST00000367570.1_Silent_p.I614I|CACNA1E_ENST00000367567.4_Silent_p.I221I|CACNA1E_ENST00000357570.5_Silent_p.I565I|CACNA1E_ENST00000360108.3_Silent_p.I614I|CACNA1E_ENST00000358338.5_Silent_p.I565I|CACNA1E_ENST00000367573.2_Silent_p.I614I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 614 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 TCCTCTTCATCGTTGTCTTTG 0.468000 7 44 0 0 0.001984 0 0 SPIC 121599 broad.mit.edu 37 12 101880291 101880291 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:101880291C>T ENST00000551346.1 + 6 648 c.489C>T c.(487-489)acC>acT p.T163T SPIC_ENST00000299272.5_Silent_p.T163T Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 163 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 ACAGGAAGACCATGACTTACC 0.433000 7 48 0 0 0.003080 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476475 42476475 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:42476475C>T ENST00000434000.1 - 9 3018 c.2736G>A c.(2734-2736)cgG>cgA p.R912R GPATCH8_ENST00000591680.1_Silent_p.R990R Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 990 Ser-rich. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GGCTGCGGTCCCGGCTATAGC 0.652000 15 8 0 0 0.002450 0 0 CATSPERB 79820 broad.mit.edu 37 14 92055994 92055994 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:92055994G>A ENST00000256343.3 - 24 2996 c.2840C>T c.(2839-2841)cCa>cTa p.P947L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 947 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTGTGTAATTGGAAACTTAAA 0.363000 8 15 0 0 0.004482 0 0 ODF3L2 284451 broad.mit.edu 37 19 467741 467741 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:467741G>A ENST00000315489.4 - 3 492 c.257C>T c.(256-258)cCg>cTg p.P86L ODF3L2_ENST00000382696.3_Missense_Mutation_p.P50L NM_182577.2 NP_872383.1 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 86 large_intestine(1)|lung(2) 3 GATGGGGCCCGGGCTGGTGTC 0.647000 13 63 0 0 0.001855 0 0 GLYATL2 219970 broad.mit.edu 37 11 58602012 58602012 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:58602012G>A ENST00000287275.1 - 6 1165 c.775C>T c.(775-777)Cat>Tat p.H259Y GLYATL2_ENST00000532258.1_Missense_Mutation_p.H259Y NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 259 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TCTGCCACATGGAAATAAAAT 0.403000 16 55 0 0 0.004007 0 0 BDKRB1 623 broad.mit.edu 37 14 96731048 96731048 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:96731048G>A ENST00000216629.6 + 3 1635 c.1029G>A c.(1027-1029)agG>agA p.R343R BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 343 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) CATCCCATAGGAAAGAAATCT 0.383000 80 102 0 0 0.003610 0 0 DNAH8 1769 broad.mit.edu 37 6 38905789 38905789 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:38905789G>A ENST00000359357.3 + 76 11206 c.10952G>A c.(10951-10953)cGa>cAa p.R3651Q RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3615Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.R3868Q dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGTGTACTTCGAACTACCAAG 0.473000 30 58 0 0 0.001786 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762728 130762728 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:130762728C>T ENST00000392429.1 + 2 3539 c.1161C>T c.(1159-1161)tcC>tcT p.S387S TMEM200A_ENST00000545622.1_Silent_p.S387S|TMEM200A_ENST00000296978.3_Silent_p.S387S NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 387 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CCAATACATCCTTGCATTTGC 0.527000 17 23 0 0 0.000958 0 0 ACTN3 89 broad.mit.edu 37 11 66325598 66325598 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:66325598C>T ENST00000513398.1 + 0 1326 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 CAGCACCTGGCTGAGAAGTTC 0.642000 6 31 0 0 0.001984 0 0 BFSP1 631 broad.mit.edu 37 20 17475601 17475601 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:17475601C>T ENST00000377873.3 - 8 1155 c.1116G>A c.(1114-1116)agG>agA p.R372R BFSP1_ENST00000377868.2_Silent_p.R247R|BFSP1_ENST00000536626.1_Silent_p.R233R|BFSP1_ENST00000544874.1_Silent_p.R233R NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 372 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 TCTCTTTTCTCCTTGGAACAT 0.418000 70 131 0 0 0.003610 0 0 ZCWPW1 55063 broad.mit.edu 37 7 99998722 99998722 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:99998722A>G ENST00000398027.2 - 18 2109 c.1862T>C c.(1861-1863)gTt>gCt p.V621A ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.V450A|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.V450A NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 621 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTCTCTCCCAACATCTTCCAT 0.627000 14 30 0 0 0.003163 0 0 CYYR1 116159 broad.mit.edu 37 21 27945215 27945215 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:27945215C>T ENST00000299340.4 - 1 388 c.45G>A c.(43-45)ccG>ccA p.P15P CYYR1_ENST00000435845.2_Silent_p.P123P|CYYR1_ENST00000400043.3_Silent_p.P15P NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 15 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GGACCAACTTCGGAAGCAAGA 0.662000 15 44 0 0 0.004990 0 0 SEMA3G 56920 broad.mit.edu 37 3 52475391 52475391 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:52475391C>T ENST00000231721.2 - 7 701 c.702G>A c.(700-702)gaG>gaA p.E234E NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 234 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GGTCAGAGTTCTCAGGGATCC 0.627000 17 30 0 0 0.001523 0 0 CSMD2 114784 broad.mit.edu 37 1 34123639 34123639 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:34123639C>T ENST00000373381.4 - 27 4530 c.4354G>A c.(4354-4356)Gac>Aac p.D1452N CSMD2_ENST00000373380.1_Missense_Mutation_p.D325N|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1412 CUB 9. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TAGCCAGGGTCACACTGGAAC 0.582000 32 70 0 0 0.002096 0 0 SIRPB1 10326 broad.mit.edu 37 20 1600548 1600548 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:1600548G>A ENST00000381605.4 - 1 107 c.43C>T c.(43-45)Ctg>Ttg p.L15L SIRPB1_ENST00000381603.3_Silent_p.L15L|RP4-576H24.4_ENST00000564763.1_Silent_p.L15L|SIRPB1_ENST00000568365.1_Silent_p.L15L|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Silent_p.L15L NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 15 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GTCATCAGCAGGAAAGGACTA 0.567000 13 49 0 0 0.003163 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576825 158576825 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158576825C>T ENST00000361284.1 + 1 597 c.597C>T c.(595-597)atC>atT p.I199I NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) AGCTGAGGATCTTTATCCTCA 0.512000 31 24 0 0 0.001786 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53679563 53679563 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:53679563G>A ENST00000262135.4 - 17 2750 c.2657C>T c.(2656-2658)tCg>tTg p.S886L RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.S886L|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.S886L|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.S886L NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 886 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) ATGTGCCAACGAAATCAGAGG 0.328000 134 231 0 0 0.003610 0 0 FBXO34 55030 broad.mit.edu 37 14 55818526 55818526 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:55818526C>T ENST00000313833.4 + 2 1663 c.1418C>T c.(1417-1419)tCc>tTc p.S473F FBXO34_ENST00000440021.1_Missense_Mutation_p.S473F NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 473 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 ATTTTAAACTCCTGTGAAGAC 0.423000 43 56 0 0 0.002852 0 0 KMT2A 4297 broad.mit.edu 37 11 118343024 118343024 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:118343024C>T ENST00000534358.1 + 3 1173 c.1150C>T c.(1150-1152)Caa>Taa p.Q384* KMT2A_ENST00000389506.5_Nonsense_Mutation_p.Q384*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.Q384* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AAAGGGGGCTCAAAAGAAAAT 0.423000 26 17 0 0 0.003954 0 0 CHKB 1120 broad.mit.edu 37 22 51020181 51020181 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:51020181G>A ENST00000406938.2 - 3 661 c.444C>T c.(442-444)atC>atT p.I148I CHKB_ENST00000463053.1_5'UTR NM_005198.4 NP_005189.2 Q9Y259 CHKB_HUMAN choline kinase beta 148 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1) 15 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) CCCGTACTGGGATGTACTGTT 0.632000 25 57 0 0 0.003330 0 0 RANBP3L 202151 broad.mit.edu 37 5 36271414 36271414 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:36271414C>T ENST00000296604.3 - 2 577 c.e2-1 RANBP3L_ENST00000515759.1_Splice_Site|RANBP3L_ENST00000502994.1_Splice_Site NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) ACAGATTTTTCTGTGAAAAAA 0.274000 21 31 0 0 0.003330 0 0 TP53BP1 7158 broad.mit.edu 37 15 43713272 43713272 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:43713272G>A ENST00000263801.3 - 20 4438 c.4186C>T c.(4186-4188)Cgt>Tgt p.R1396C TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401C|TP53BP1_ENST00000382039.3_Intron|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401C NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1396 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CCACGCCCACGAGGCGTGACT 0.572000 Other conserved DNA damage response genes 39 67 0 0 0.001287 0 0 LGALS4 3960 broad.mit.edu 37 19 39294190 39294190 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:39294190G>A ENST00000307751.4 - 7 1019 c.540_splice c.e7-1 p.T181_splice NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 181 cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) TCCTTCCATGGTCTGTGAAGT 0.522000 16 45 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 9074913 9074913 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9074913G>A ENST00000397910.4 - 3 12736 c.12533C>T c.(12532-12534)tCa>tTa p.S4178L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4180 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 GTGCCCTTGTGATGTCAACAA 0.517000 15 58 0 0 0.003163 0 0 NLRP4 147945 broad.mit.edu 37 19 56369416 56369416 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:56369416C>T ENST00000301295.6 + 3 1079 c.657C>T c.(655-657)atC>atT p.I219I NLRP4_ENST00000346986.5_Silent_p.I219I|NLRP4_ENST00000587891.1_Silent_p.I144I NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 219 NACHT. ATP binding p.I219I(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TAACAGAGATCGTGTCTCAAC 0.537000 40 60 0 0 0.001485 0 0 DIP2C 22982 broad.mit.edu 37 10 409160 409160 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:409160G>A ENST00000280886.6 - 21 2656 c.2569C>T c.(2569-2571)Cag>Tag p.Q857* DIP2C_ENST00000540204.1_Nonsense_Mutation_p.Q178*|DIP2C_ENST00000381496.3_3'UTR NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 857 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CTCATCCACTGGAAACTGTCC 0.597000 5 17 0 0 0.000602 0 0 ZNF264 9422 broad.mit.edu 37 19 57723539 57723539 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:57723539C>T ENST00000263095.6 + 4 1488 c.1074C>T c.(1072-1074)ctC>ctT p.L358L ZNF264_ENST00000536056.1_Silent_p.L358L NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L358L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 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;0.0135) GGTCATATCTCATGTGGCACC 0.517000 12 50 0 0 0.001368 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809590 18809590 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:18809590C>T ENST00000400664.1 + 1 2167 c.2115C>T c.(2113-2115)tgC>tgT p.C705C NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 705 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGTACGAGTGCGCCACGTACC 0.652000 19 18 0 0 0.000958 0 0 PTPRT 11122 broad.mit.edu 37 20 41306585 41306585 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:41306585G>A ENST00000373198.3 - 7 1309 c.1074C>T c.(1072-1074)atC>atT p.I358I PTPRT_ENST00000373184.1_Silent_p.I358I|PTPRT_ENST00000373187.1_Silent_p.I358I|PTPRT_ENST00000373190.1_Silent_p.I358I|PTPRT_ENST00000356100.2_Silent_p.I358I|PTPRT_ENST00000373193.3_Silent_p.I358I|PTPRT_ENST00000373201.1_Silent_p.I358I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 358 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGAGCACTCGGATCTCATACT 0.562000 29 90 0 0 0.003271 0 0 TAAR6 319100 broad.mit.edu 37 6 132891894 132891894 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:132891894C>T ENST00000275198.1 + 1 434 c.434C>T c.(433-435)aCc>aTc p.T145I NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 145 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) ACCAAGTTCACCGTATCTGTG 0.502000 83 148 0 0 0.003610 0 0 MED25 81857 broad.mit.edu 37 19 50338993 50338993 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:50338993C>T ENST00000312865.6 + 16 1809 c.1756C>T c.(1756-1758)Cgc>Tgc p.R586C MED25_ENST00000538643.1_Missense_Mutation_p.R373C NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 586 Interaction with RARA.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) GCTCCAGCTCCGCCCACCGCA 0.721000 3 5 0 0 0.004672 0 0 RGS22 26166 broad.mit.edu 37 8 101075805 101075805 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:101075805C>T ENST00000360863.6 - 8 1385 c.1191G>A c.(1189-1191)agG>agA p.R397R RGS22_ENST00000523287.1_Silent_p.R216R|RGS22_ENST00000523437.1_Silent_p.R385R NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 397 R -> M (in dbSNP:rs2446927). negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ACCAGTCCGCCCTGCTCTCTG 0.358000 25 69 0 0 0.005443 0 0 PSMA6 5687 broad.mit.edu 37 14 35778136 35778136 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:35778136C>T ENST00000261479.4 + 3 308 c.188C>T c.(187-189)tCc>tTc p.S63F KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.S63F|PSMA6_ENST00000540871.1_Missense_Mutation_p.S44F|PSMA6_ENST00000556506.1_Missense_Mutation_p.S63F|PSMA6_ENST00000555764.1_5'UTR NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 63 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) TTATTGGATTCCAGCACAGTG 0.274000 102 147 0 0 0.003610 0 0 C1orf106 55765 broad.mit.edu 37 1 200869303 200869303 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:200869303G>A ENST00000367342.4 + 4 707 c.507G>A c.(505-507)agG>agA p.R169R C1orf106_ENST00000413687.2_Silent_p.R84R NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 169 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TTCGCCGCAGGATCGGAGCGG 0.607000 27 23 0 0 0.001786 0 0 BCAS1 8537 broad.mit.edu 37 20 52611550 52611550 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:52611550C>T ENST00000395961.3 - 6 1094 c.e6+1 BCAS1_ENST00000434986.2_Splice_Site|BCAS1_ENST00000371440.3_Splice_Site|BCAS1_ENST00000371435.2_Splice_Site NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CAACTACCTACCGTGTCTTCT 0.348000 7 202 0 0 0.000443 0 0 KIAA0754 643314 broad.mit.edu 37 1 39880123 39880123 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:39880123G>T ENST00000530275.1 + 1 3973 c.3778G>T c.(3778-3780)Gca>Tca p.A1260S MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 1260 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCCTCTGGCTGCAACCGCTGG 0.468000 22 44 9.95505e-16 2.09034e-15 0.002299 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54932736 54932736 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:54932736C>T ENST00000293373.6 + 30 3331 c.3252C>T c.(3250-3252)tcC>tcT p.S1084S NCKAP1L_ENST00000545638.2_Silent_p.S1034S NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 1084 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ATCGAGAATCCATTTCTCTGC 0.453000 7 33 0 0 0.000443 0 0 SRPK1 6732 broad.mit.edu 37 6 35838079 35838079 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:35838079T>C ENST00000373825.2 - 10 1255 c.970A>G c.(970-972)Aaa>Gaa p.K324E SRPK1_ENST00000373822.1_Missense_Mutation_p.K217E|SRPK1_ENST00000423325.2_Missense_Mutation_p.K308E Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 324 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 TGGGTCATTTTATTAGGTGGG 0.368000 16 22 0 0 0.001216 0 0 OR56B4 196335 broad.mit.edu 37 11 6129497 6129497 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:6129497C>T ENST00000316529.3 + 1 584 c.489C>T c.(487-489)atC>atT p.I163I RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTTGACCATCCCAGTGCCTA 0.512000 26 46 0 0 0.001061 0 0 MIOX 55586 broad.mit.edu 37 22 50927489 50927489 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:50927489C>T ENST00000395733.3 + 6 575 c.461C>T c.(460-462)cCt>cTt p.P154L MIOX_ENST00000395732.3_Silent_p.T143T|MIOX_ENST00000216075.6_Silent_p.T143T Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 0 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCGGCGACACCTTCCCCGTCG 0.657000 10 11 0 0 0.001368 0 0 MDN1 23195 broad.mit.edu 37 6 90402813 90402813 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:90402813C>T ENST00000369393.3 - 63 10051 c.9936G>A c.(9934-9936)aaG>aaA p.K3312K MDN1_ENST00000428876.1_Silent_p.K3312K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3312 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGGCCTGTTTCTTCAACAGGT 0.512000 12 45 0 0 0.002450 0 0 CACNA1C 775 broad.mit.edu 37 12 2224708 2224708 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:2224708G>A ENST00000399655.1 + 2 633 c.368G>A c.(367-369)tGg>tAg p.W123* CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W123* 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 123 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) ATTGTCGAATGGAAATATCCT 0.647000 10 41 0 0 0.000673 0 0 STARD10 10809 broad.mit.edu 37 11 72466185 72466185 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:72466185G>A ENST00000334805.6 - 7 1552 c.633C>T c.(631-633)gcC>gcT p.A211A STARD10_ENST00000545082.1_Silent_p.A182A|STARD10_ENST00000543304.1_Silent_p.A211A|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000538536.1_Silent_p.A165A NM_006645.2 NP_006636.2 Q9Y365 PCTL_HUMAN StAR-related lipid transfer (START) domain containing 10 211 START. endometrium(4)|large_intestine(1)|lung(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) TCTTCTTCATGGCCTGTGGGC 0.667000 22 98 0 0 0.003330 0 0 OIT3 170392 broad.mit.edu 37 10 74690355 74690355 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:74690355T>A ENST00000334011.5 + 8 1645 c.1427T>A c.(1426-1428)tTc>tAc p.F476Y NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 476 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) GCAAAGCACTTCCAGGTCCCT 0.418000 37 109 0 0 0.001287 0 0 MED12L 116931 broad.mit.edu 37 3 151105867 151105867 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:151105867C>T ENST00000474524.1 + 35 5291 c.5253C>T c.(5251-5253)tcC>tcT p.S1751S MED12L_ENST00000273432.4_Silent_p.S1611S NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1751 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AAAGGAAGTCCGCTGAGCTGT 0.502000 15 16 0 0 0.003163 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039539 55039539 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:55039539G>A ENST00000370862.3 + 1 490 c.154G>A c.(154-156)Gaa>Aaa p.E52K NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 52 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GCACCCGAAAGAATATGAGTG 0.557000 9 62 0 0 0.004482 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24533825 24533825 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:24533825C>T ENST00000357578.3 + 10 1638 c.1493C>T c.(1492-1494)tCc>tTc p.S498F ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S511F|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S410F|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S470F NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 498 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) GGATTAATTTCCTCTGTGGAG 0.517000 36 117 0 0 0.001485 0 0 MYBPC3 4607 broad.mit.edu 37 11 47356646 47356646 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:47356646C>T ENST00000399249.2 - 26 2906 c.2852G>A c.(2851-2853)gGg>gAg p.G951E MYBPC3_ENST00000256993.4_Missense_Mutation_p.G950E|MYBPC3_ENST00000545968.1_Missense_Mutation_p.G951E Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 950 Fibronectin type-III 2. 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) GGCTCCAGGCCCTGCCATATT 0.637000 13 10 0 0 0.001855 0 0 SLC17A6 57084 broad.mit.edu 37 11 22399212 22399212 + Missense_Mutation SNP G G A rs138159912 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:22399212G>A ENST00000263160.3 + 12 2112 c.1675G>A c.(1675-1677)Gaa>Aaa p.E559K NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 559 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TAGTGGTTGGGAAAAGAAAGA 0.368000 7 13 0 0 0.003080 0 0 AOX1 316 broad.mit.edu 37 2 201473824 201473824 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:201473824G>A ENST00000374700.2 + 11 1266 c.1025G>A c.(1024-1026)gGa>gAa p.G342E NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 342 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AAGCATTTGGGAACTCTGGCT 0.498000 13 15 0 0 0.003163 0 0 IQSEC3 440073 broad.mit.edu 37 12 278263 278263 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:278263C>T ENST00000538872.1 + 12 3174 c.3056C>T c.(3055-3057)tCg>tTg p.S1019L IQSEC3_ENST00000537151.1_3'UTR|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S716L|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S1019L Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1019 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AAGCAAGGATCGCCGACAGGT 0.642000 14 36 0 0 0.002450 0 0 SYNE1 23345 broad.mit.edu 37 6 152708267 152708267 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:152708267G>A ENST00000367255.5 - 54 9028 c.8427C>T c.(8425-8427)ttC>ttT p.F2809F SYNE1_ENST00000448038.1_Silent_p.F2816F|SYNE1_ENST00000423061.1_Silent_p.F2816F|SYNE1_ENST00000341594.5_Silent_p.F2848F|SYNE1_ENST00000265368.4_Silent_p.F2809F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2809 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGTGTCCTTGAAAGACTCAT 0.428000 HNSCC(10;0.0054) 20 65 0 0 0.001882 0 0 BTBD9 114781 broad.mit.edu 37 6 38565854 38565854 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:38565854G>A ENST00000481247.1 - 2 168 c.17C>T c.(16-18)cCt>cTt p.P6L BTBD9_ENST00000403056.1_Missense_Mutation_p.P6L NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 6 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 GGGGCGAAGAGGGTGGCTGTT 0.438000 17 62 0 0 0.000958 0 0 ABCC9 10060 broad.mit.edu 37 12 21971127 21971127 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:21971127G>A ENST00000261200.4 - 30 3727 c.3728C>T c.(3727-3729)tCg>tTg p.S1243L ABCC9_ENST00000261201.4_Missense_Mutation_p.S1243L|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1207L NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1243 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCCAGAATTCGAAGACCCACT 0.408000 17 99 0 0 0.004990 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77509952 77509952 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:77509952C>T ENST00000477717.1 + 3 560 c.325C>T c.(325-327)Cgg>Tgg p.R109W NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 109 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 GCTGCACAGTCGGCAAGGCTC 0.617000 18 37 0 0 0.000958 0 0 KCNQ1 3784 broad.mit.edu 37 11 2869092 2869092 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:2869092C>T ENST00000155840.5 + 16 1998 c.1890C>T c.(1888-1890)ccC>ccT p.P630P KCNQ1_ENST00000526095.1_3'UTR|KCNQ1_ENST00000335475.5_Silent_p.P503P|KCNQ1-AS1_ENST00000440887.2_RNA NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 630 LHGGSTPGSGGPPREGGAHITQPCGS -> MQQGGPTCNSR SQVVASNE (in Ref. 4; AAM94040). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) GCGGCGGCCCCCCCAGAGAGG 0.701000 11 59 0 0 0.002450 0 0 ASCL1 429 broad.mit.edu 37 12 103352346 103352346 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:103352346T>C ENST00000266744.3 + 1 883 c.324T>C c.(322-324)ttT>ttC p.F108F NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 108 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity NS(3)|large_intestine(1)|lung(1) 5 TCAGCGGCTTTGGCTACAGCC 0.667000 3 11 0 0 0.004672 0 0 DACH1 1602 broad.mit.edu 37 13 72147000 72147000 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:72147000G>A ENST00000305425.4 - 4 1699 c.1277C>T c.(1276-1278)cCa>cTa p.P426L DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P478L NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 476 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AACTCTGGATGGGGGACTCTG 0.423000 18 31 0 0 0.001882 0 0 UNC79 57578 broad.mit.edu 37 14 94046668 94046668 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:94046668G>A ENST00000553484.1 + 19 2761 c.2607G>A c.(2605-2607)caG>caA p.Q869Q UNC79_ENST00000555664.1_Silent_p.Q869Q|UNC79_ENST00000256339.4_Silent_p.Q692Q|UNC79_ENST00000393151.2_Silent_p.Q869Q Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 869 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 TCTGCTATCAGCTTGCTTGTG 0.478000 21 54 0 0 0.002780 0 0 HEG1 57493 broad.mit.edu 37 3 124732282 124732282 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:124732282G>A ENST00000311127.4 - 6 2208 c.2141C>T c.(2140-2142)tCc>tTc p.S714F NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 714 Ser-rich. extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TGATGGTGAGGAAGACCATGG 0.458000 24 55 0 0 0.003330 0 0 KIF13A 63971 broad.mit.edu 37 6 17772153 17772153 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:17772153G>A ENST00000378814.5 - 36 4422 c.4423C>T c.(4423-4425)Ctt>Ttt p.L1475F KIF13A_ENST00000259711.6_Missense_Mutation_p.L1488F|KIF13A_ENST00000378816.5_Missense_Mutation_p.L1488F|KIF13A_ENST00000378826.2_Missense_Mutation_p.L1488F|KIF13A_ENST00000378843.2_Missense_Mutation_p.L1475F NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1488 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TGGCTTAGAAGAGGCCTTGCT 0.458000 110 152 0 0 0.003610 0 0 TNR 7143 broad.mit.edu 37 1 175362950 175362950 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:175362950G>A ENST00000367674.1 - 6 2030 c.1322C>T c.(1321-1323)tCc>tTc p.S441F TNR_ENST00000263525.2_Missense_Mutation_p.S441F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 441 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCCATCGAAGGAAAATGAGAA 0.458000 51 181 0 0 0.003610 0 0 TNR 7143 broad.mit.edu 37 1 175372522 175372522 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:175372522G>A ENST00000367674.1 - 4 1438 c.730C>T c.(730-732)Ctc>Ttc p.L244F TNR_ENST00000263525.2_Missense_Mutation_p.L244F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 244 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCCACGCAGAGCCCCCGGGAG 0.642000 51 32 0 0 0.003610 0 0 ITGB6 3694 broad.mit.edu 37 2 161052042 161052042 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:161052042G>A ENST00000283249.2 - 4 668 c.431C>T c.(430-432)tCc>tTc p.S144F ITGB6_ENST00000409967.2_Missense_Mutation_p.S144F|ITGB6_ENST00000409872.1_Missense_Mutation_p.S144F|ITGB6_ENST00000428609.2_Missense_Mutation_p.S102F|ITGB6_ENST00000485635.1_5'UTR P18564 ITB6_HUMAN integrin, beta 6 144 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 GTCATCCATGGAGGCGGAGAG 0.522000 46 40 0 0 0.003610 0 0 CYP2C8 1558 broad.mit.edu 37 10 96802710 96802710 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:96802710G>A ENST00000371270.3 - 7 1180 c.1086C>T c.(1084-1086)gtC>gtT p.V362V CYP2C8_ENST00000535898.1_Silent_p.V260V|CYP2C8_ENST00000539050.1_Silent_p.V276V NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 362 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CACCGGTGGGGACAAGGTCAC 0.488000 5 55 0 0 0.000602 0 0 YBX3 8531 broad.mit.edu 37 12 10856689 10856689 + Missense_Mutation SNP G G A rs141479423 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:10856689G>A ENST00000228251.4 - 7 1039 c.839C>T c.(838-840)cCg>cTg p.P280L YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Missense_Mutation_p.P211L NM_003651.4 NP_003642.3 Y box binding protein 3 TCGATGAACCGGTCCCTGAAG 0.507000 42 80 0 0 0.003610 0 0 FN1 2335 broad.mit.edu 37 2 216264013 216264013 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:216264013G>A ENST00000354785.4 - 21 3684 c.3315C>T c.(3313-3315)atC>atT p.I1105I FN1_ENST00000357009.2_Silent_p.I1105I|FN1_ENST00000359671.1_Silent_p.I1105I|FN1_ENST00000356005.4_Silent_p.I1105I|FN1_ENST00000345488.5_Silent_p.I1105I|FN1_ENST00000323926.6_Silent_p.I1105I|FN1_ENST00000336916.4_Silent_p.I1105I|FN1_ENST00000421182.1_Silent_p.I1105I|FN1_ENST00000357867.4_Silent_p.I1105I|FN1_ENST00000443816.1_Silent_p.I1105I|FN1_ENST00000446046.1_Silent_p.I1105I|FN1_ENST00000346544.3_Silent_p.I1105I|FN1_ENST00000432072.2_Silent_p.I1105I P02751 FINC_HUMAN fibronectin 1 1105 Fibronectin type-III 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGTCCATGTGATCACAATGG 0.468000 10 56 0 0 0.001855 0 0 CDYL2 124359 broad.mit.edu 37 16 80718436 80718436 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:80718436G>A ENST00000299564.8 - 2 770 c.616_splice c.e2+1 p.L205_splice CDYL2_ENST00000563890.1_Splice_Site_p.L205_splice|CDYL2_ENST00000566173.1_Splice_Site_p.L205_splice|CDYL2_ENST00000562812.1_Splice_Site_p.L205_splice NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 205 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 GCTACAAACCGAGCCCGTTCT 0.527000 27 41 0 0 0.001786 0 0 ABCA13 154664 broad.mit.edu 37 7 48313338 48313338 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:48313338G>A ENST00000435803.1 + 17 4099 c.4075G>A c.(4075-4077)Gaa>Aaa p.E1359K NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1359 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GTGTATTTTAGAAGATGGCTT 0.333000 11 24 0 0 0.000978 0 0 MYOT 9499 broad.mit.edu 37 5 137219247 137219247 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:137219247G>A ENST00000239926.4 + 7 1365 c.991G>A c.(991-993)Gaa>Aaa p.E331K RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.E147K|MYOT_ENST00000515645.1_Missense_Mutation_p.E216K NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 331 Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TAGAGCAGGAGAAGCCACCTT 0.423000 5 46 0 0 0.000602 0 0 MEFV 4210 broad.mit.edu 37 16 3304748 3304748 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:3304748G>T ENST00000219596.1 - 2 359 c.320C>A c.(319-321)tCc>tAc p.S107Y MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 107 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CAGGGAGCTGGACGCTGCGGA 0.592000 6 102 1.12685e-05 2.34122e-05 0.004482 1 0 RGMB 285704 broad.mit.edu 37 5 98115297 98115297 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:98115297G>A ENST00000308234.7 + 4 675 c.273G>A c.(271-273)caG>caA p.Q91Q RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Silent_p.Q50Q NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 50 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) ACTGCCAACAGCCAGCCCAAT 0.453000 30 190 0 0 0.004289 0 0 ATP2A1 487 broad.mit.edu 37 16 28898962 28898962 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:28898962G>A ENST00000395503.4 + 8 1031 c.847G>A c.(847-849)Gtc>Atc p.V283I ATP2A1_ENST00000357084.3_Missense_Mutation_p.V283I|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V158I NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 283 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 CAACGACCCCGTCCATGGGGG 0.557000 12 101 0 0 0.000978 0 0 KRT12 3859 broad.mit.edu 37 17 39023203 39023203 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:39023203C>T ENST00000251643.4 - 1 259 c.236G>A c.(235-237)gGa>gAa p.G79E NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 79 Gly-rich.|Head. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) ACCCAGTCCTCCTGCCATGGA 0.597000 42 32 0 0 0.002222 0 0 P4HA3 283208 broad.mit.edu 37 11 73984630 73984630 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:73984630C>T ENST00000331597.4 - 10 1403 c.1358G>A c.(1357-1359)aGa>aAa p.R453K P4HA3_ENST00000427714.2_Missense_Mutation_p.R453K NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 453 Fe2OG dioxygenase. endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TGACTTCATTCTGTAGAGGGG 0.388000 17 24 0 0 0.001523 0 0 TESK2 10420 broad.mit.edu 37 1 45813622 45813622 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:45813622G>A ENST00000372086.3 - 6 991 c.591C>T c.(589-591)gaC>gaT p.D197D TESK2_ENST00000341771.6_Silent_p.D197D|TESK2_ENST00000538496.1_Silent_p.D114D|TESK2_ENST00000372084.1_Silent_p.D197D|TESK2_ENST00000486676.1_5'UTR NM_007170.2 NP_009101.2 Q96S53 TESK2_HUMAN testis-specific kinase 2 197 Protein kinase. actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) CCAGGCCAAAGTCAGCTACCA 0.522000 47 68 0 0 0.003610 0 0 C7orf33 202865 broad.mit.edu 37 7 148288132 148288132 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:148288132C>T ENST00000307003.2 + 1 476 c.115C>T c.(115-117)Cgc>Tgc p.R39C NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 39 central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GATTGACCTTCGCCTGAGTGG 0.557000 24 58 0 0 0.002780 0 0 ZNF165 7718 broad.mit.edu 37 6 28056771 28056771 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:28056771G>A ENST00000377325.1 + 4 1537 c.981G>A c.(979-981)aaG>aaA p.K327K NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 327 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AATCTTTCAAGAGCCCAAAAC 0.368000 15 31 0 0 0.002450 0 0 NOTCH4 4855 broad.mit.edu 37 6 32190494 32190494 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:32190494G>A ENST00000375023.3 - 3 383 c.245C>T c.(244-246)gCc>gTc p.A82V NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 82 EGF-like 2. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGGAAGCAGGGCTTGGCAGCT 0.637000 18 434 0 0 0.000958 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1798340 1798340 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:1798340G>A ENST00000250894.4 + 7 1244 c.1087G>A c.(1087-1089)Gga>Aga p.G363R MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G363R|MAPK8IP3_ENST00000568271.1_3'UTR NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 363 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 GGACCGCACAGGAAGCAGGTA 0.582000 11 20 0 0 0.000978 0 0 ATP6V1A 523 broad.mit.edu 37 3 113513742 113513742 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:113513742C>T ENST00000273398.3 + 9 1120 c.1012C>T c.(1012-1014)Cgt>Tgt p.R338C ATP6V1A_ENST00000538620.1_Missense_Mutation_p.R305C NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 338 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGAGTACTTCCGTGACATGGG 0.408000 54 110 0 0 0.003610 0 0 XIST 7503 broad.mit.edu 37 X 73070206 73070206 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:73070206G>A ENST00000429829.1 - 0 2382 NR_001564.2 TAATTAAAGTGAATTCTACAA 0.279000 14 5 0 0 0.001855 0 0 PDGFRL 5157 broad.mit.edu 37 8 17447010 17447010 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:17447010C>T ENST00000541323.1 + 3 534 c.89C>T c.(88-90)cCa>cTa p.P30L PDGFRL_ENST00000251630.6_Missense_Mutation_p.P30L|PDGFRL_ENST00000398074.3_Missense_Mutation_p.P30L NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 30 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) AACAAGCGTCCAAAAGAACCA 0.423000 50 93 0 0 0.003610 0 0 FAM179B 23116 broad.mit.edu 37 14 45537756 45537756 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:45537756C>T ENST00000361462.2 + 18 5062 c.4879C>T c.(4879-4881)Cca>Tca p.P1627S FAM179B_ENST00000361577.3_Missense_Mutation_p.P1574S|FAM179B_ENST00000382233.2_3'UTR Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1574 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 CATGCTAATTCCAGCAATAGT 0.388000 9 37 0 0 0.000673 0 0 NELL1 4745 broad.mit.edu 37 11 20939776 20939776 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:20939776A>G ENST00000298925.5 + 7 889 c.736A>G c.(736-738)Aca>Gca p.T246A NELL1_ENST00000357134.5_Missense_Mutation_p.T218A|NELL1_ENST00000325319.5_Missense_Mutation_p.T161A|NELL1_ENST00000532434.1_Missense_Mutation_p.T218A Q92832 NELL1_HUMAN NEL-like 1 (chicken) 218 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TGGATATATAACACAGTGTCC 0.353000 6 16 0 0 0.003080 0 0 BIRC5 332 broad.mit.edu 37 17 76212781 76212781 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:76212781C>T ENST00000301633.4 + 4 458 c.327C>T c.(325-327)ttC>ttT p.F109F BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Silent_p.R272R|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000350051.3_Silent_p.F86F|BIRC5_ENST00000374948.2_Intron NM_001012271.1 NP_001012271.1 O15392 BIRC5_HUMAN baculoviral IAP repeat containing 5 86 anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding kidney(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) GTTGCGCTTTCCTTTCTGTCA 0.413000 35 80 0 0 0.003755 0 0 ACTL6B 51412 broad.mit.edu 37 7 100245114 100245114 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:100245114C>T ENST00000160382.5 - 8 818 c.712G>A c.(712-714)Gag>Aag p.E238K NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 238 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGTAGCTTCTCCTTCTTCTTC 0.612000 32 63 0 0 0.001287 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16812746 16812746 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:16812746C>T ENST00000448080.2 - 20 2763 c.2749G>A c.(2749-2751)Gaa>Aaa p.E917K PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Splice_Site_p.E916_splice|PLEKHA7_ENST00000355661.3_Splice_Site_p.E916_splice|PLEKHA7_ENST00000332954.4_5'UTR NM_175058.4 NP_778228.3 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 916 Pro-rich. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GCTTCATCTTCCTGCTGAGAA 0.617000 10 14 0 0 0.002450 0 0 KIAA1804 84451 broad.mit.edu 37 1 233511738 233511738 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:233511738G>A ENST00000366624.3 + 7 2013 c.1752G>A c.(1750-1752)agG>agA p.R584R MLK4_ENST00000366622.1_Silent_p.R30R NM_032435.2 NP_115811.2 ATGTAAAAAGGAATTTTAAGA 0.348000 16 69 0 0 0.003163 0 0 PTCH2 8643 broad.mit.edu 37 1 45288249 45288249 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:45288249G>A ENST00000372192.3 - 22 3580 c.3450C>T c.(3448-3450)ccC>ccT p.P1150P PTCH2_ENST00000447098.2_Intron NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 1150 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CAAAGCTCTGGGGCAGGGAGG 0.627000 Basal Cell Nevus syndrome 21 73 0 0 0.001523 0 0 DBNDD1 79007 broad.mit.edu 37 16 90075245 90075245 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:90075245G>A ENST00000392973.3 - 2 1015 c.284C>T c.(283-285)gCc>gTc p.A95V DBNDD1_ENST00000002501.6_Missense_Mutation_p.A89V|DBNDD1_ENST00000568838.1_Missense_Mutation_p.A209V|DBNDD1_ENST00000304733.3_Missense_Mutation_p.A109V Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 1 89 cytoplasm kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) AAAGACCTCGGCCAGCTCCTG 0.647000 12 16 0 0 0.001855 0 0 CSMD2 114784 broad.mit.edu 37 1 34123683 34123683 + Missense_Mutation SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:34123683C>A ENST00000373381.4 - 27 4486 c.4310G>T c.(4309-4311)aGt>aTt p.S1437I CSMD2_ENST00000373380.1_Missense_Mutation_p.S310I|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1397 Sushi 8. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACTGTCACCACTCCGACTCCC 0.582000 41 57 6.5261e-18 1.37095e-17 0.001951 1 0 MDGA1 266727 broad.mit.edu 37 6 37623535 37623535 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:37623535C>T ENST00000434837.2 - 4 1698 c.520G>A c.(520-522)Gat>Aat p.D174N MDGA1_ENST00000297153.7_Missense_Mutation_p.D174N|MDGA1_ENST00000505425.1_Missense_Mutation_p.D174N NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 174 Ig-like 2. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 GATAGGGTATCGGAACCCCGC 0.587000 5 13 0 0 0.001984 0 0 KIAA1549 57670 broad.mit.edu 37 7 138601809 138601809 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:138601809T>C ENST00000440172.1 - 2 2611 c.2563A>G c.(2563-2565)Acc>Gcc p.T855A KIAA1549_ENST00000422774.1_Missense_Mutation_p.T855A|KIAA1549_ENST00000242365.4_Missense_Mutation_p.T805A NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 855 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GGGAAGGGGGTTGCTTCAGAA 0.577000 O BRAF pilocytic astrocytoma 15 17 0 0 0.004990 0 0 RGPD3 653489 broad.mit.edu 37 2 107041192 107041192 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:107041192C>T ENST00000409886.3 - 20 3318 c.3231G>A c.(3229-3231)tgG>tgA p.W1077* RGPD3_ENST00000304514.7_Nonsense_Mutation_p.W1077* NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1077 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCCTTTCTTTCCACTGACTTA 0.383000 10 361 0 0 0.001368 0 0 CNTN4 152330 broad.mit.edu 37 3 2967439 2967439 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:2967439G>A ENST00000397461.1 + 12 1718 c.1334G>A c.(1333-1335)aGg>aAg p.R445K CNTN4_ENST00000427331.1_Missense_Mutation_p.R445K|CNTN4_ENST00000358480.3_Missense_Mutation_p.R226K|CNTN4_ENST00000397459.2_Missense_Mutation_p.R117K|CNTN4_ENST00000418658.1_Missense_Mutation_p.R445K|CNTN4_ENST00000448906.2_Missense_Mutation_p.R117K|CNTN4_ENST00000475817.1_3'UTR NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 445 Ig-like C2-type 5. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAGAAAGGAAGGGATATATTA 0.348000 48 111 0 0 0.003610 0 0 CAD 790 broad.mit.edu 37 2 27457094 27457094 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:27457094G>A ENST00000264705.4 + 22 3780 c.3618_splice c.e22+1 p.K1206_splice CAD_ENST00000403525.1_Splice_Site_p.K1143_splice NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1206 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TCATTGCCAAGGTAATAAGGC 0.522000 10 48 0 0 0.000978 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84900627 84900627 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:84900627C>T ENST00000262424.5 + 7 1058 c.834C>T c.(832-834)acC>acT p.T278T CRISPLD2_ENST00000567845.1_Silent_p.T277T|CRISPLD2_ENST00000564567.1_Silent_p.T278T NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 278 extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 CCAAGAAAACCTCTGCGGTCA 0.587000 12 28 0 0 0.000978 0 0 ANAPC7 51434 broad.mit.edu 37 12 110824147 110824147 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:110824147G>A ENST00000455511.3 - 6 904 c.904C>T c.(904-906)Cct>Tct p.P302S ANAPC7_ENST00000450008.2_Missense_Mutation_p.P302S NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 302 P -> L (in Ref. 1; AAF05754). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 ATCAGATAAGGATCCAACATC 0.438000 142 157 0 0 0.003610 0 0 APOB 338 broad.mit.edu 37 2 21231904 21231904 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:21231904G>A ENST00000233242.1 - 26 7963 c.7836C>T c.(7834-7836)ttC>ttT p.F2612F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2612 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAGGTGTCTGGAAGGTAGCTT 0.413000 44 186 0 0 0.003610 0 0 TMEM176B 28959 broad.mit.edu 37 7 150488648 150488648 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:150488648C>T ENST00000447204.2 - 7 1156 c.784G>A c.(784-786)Gag>Aag p.E262K TMEM176B_ENST00000434545.1_Missense_Mutation_p.E262K|TMEM176B_ENST00000450753.2_Missense_Mutation_p.E225K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E262K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.E262K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.E262K NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 262 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGGTCTGCTCCCTAGAGGGC 0.567000 16 49 0 0 0.003330 0 0 VCPIP1 80124 broad.mit.edu 37 8 67578269 67578269 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:67578269G>A ENST00000310421.4 - 1 1183 c.925C>T c.(925-927)Ctc>Ttc p.L309F NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 309 OTU. protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) ATGCCACTGAGGGAATCTAAC 0.473000 30 74 0 0 0.002445 0 0 TACC2 10579 broad.mit.edu 37 10 123842291 123842291 + Silent SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:123842291T>C ENST00000369005.1 + 4 616 c.276T>C c.(274-276)ggT>ggC p.G92G TACC2_ENST00000515603.1_Silent_p.G92G|TACC2_ENST00000453444.2_Silent_p.G92G|TACC2_ENST00000515273.1_Silent_p.G92G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.G92G NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 92 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) GGCCAGAAGGTTCTTTGCTGC 0.637000 18 22 0 0 0.001882 0 0 KIF27 55582 broad.mit.edu 37 9 86465139 86465139 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:86465139C>T ENST00000297814.2 - 16 3574 c.3431G>A c.(3430-3432)cGg>cAg p.R1144Q KIF27_ENST00000413982.1_Missense_Mutation_p.R1078Q|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.R1047Q NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 1144 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CATATTATCCCGTTCCAGAAC 0.388000 40 29 0 0 0.005524 0 0 NYAP2 57624 broad.mit.edu 37 2 226446890 226446890 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:226446890C>T ENST00000272907.6 + 4 1170 c.757C>T c.(757-759)Ctc>Ttc p.L253F NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 253 GGGGAACATTCTCAGAGACTT 0.592000 24 99 0 0 0.003330 0 0 DSCAM 1826 broad.mit.edu 37 21 42064779 42064779 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:42064779G>A ENST00000400454.1 - 3 942 c.465C>T c.(463-465)atC>atT p.I155I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 155 Ig-like C2-type 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGACGACAGTGATGTACGCCT 0.522000 21 40 0 0 0.001216 0 0 ECHDC2 55268 broad.mit.edu 37 1 53364886 53364886 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:53364886G>A ENST00000536120.1 - 11 1392 c.575C>T c.(574-576)gCc>gTc p.A192V ECHDC2_ENST00000358358.5_Missense_Mutation_p.A207V|ECHDC2_ENST00000371522.4_Missense_Mutation_p.A238V Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 238 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 CAGCCGCACGGCAATGGGGGC 0.547000 17 52 0 0 0.006122 0 0 TDRD5 163589 broad.mit.edu 37 1 179604942 179604942 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:179604942C>T ENST00000444136.1 + 9 1690 c.1440C>T c.(1438-1440)atC>atT p.I480I TDRD5_ENST00000294848.8_Silent_p.I480I|TDRD5_ENST00000367614.1_Silent_p.I480I NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 480 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TGGAGTATATCATCTCTCCTA 0.453000 13 69 0 0 0.002450 0 0 ERC2 26059 broad.mit.edu 37 3 56330423 56330423 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:56330423C>T ENST00000288221.6 - 3 953 c.698G>A c.(697-699)cGa>cAa p.R233Q NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 233 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) TCTCTGGGTTCGCAGCTCATC 0.522000 25 46 0 0 0.002780 0 0 MYH11 4629 broad.mit.edu 37 16 15818255 15818255 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:15818255C>T ENST00000338282.6 - 31 4234 c.4128G>A c.(4126-4128)tcG>tcA p.S1376S MYH11_ENST00000576790.1_Silent_p.S1376S|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000396324.3_Silent_p.S1383S|NDE1_ENST00000396355.1_3'UTR|MYH11_ENST00000300036.5_Silent_p.S1376S|NDE1_ENST00000571896.1_3'UTR|MYH11_ENST00000452625.2_Silent_p.S1383S|NDE1_ENST00000342673.5_3'UTR NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1376 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCTTCTTCTTCGAGTCGGAGA 0.587000 T CBFB AML 19 54 0 0 0.002780 0 0 SFMBT1 51460 broad.mit.edu 37 3 52946618 52946618 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:52946618G>A ENST00000394752.3 - 16 2048 c.1666C>T c.(1666-1668)Ctt>Ttt p.L556F SFMBT1_ENST00000358080.2_Missense_Mutation_p.L556F|SFMBT1_ENST00000394750.1_Missense_Mutation_p.L556F|SFMBT1_ENST00000296295.6_Missense_Mutation_p.L556F NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 556 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) AGCTCCCGAAGGACACGGCTG 0.463000 26 69 0 0 0.001512 0 0 OR13A1 79290 broad.mit.edu 37 10 45798957 45798957 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:45798957G>A ENST00000553795.1 - 4 1222 c.914C>T c.(913-915)cCc>cTc p.P305L OR13A1_ENST00000374401.2_Missense_Mutation_p.P305L|OR13A1_ENST00000536058.1_Missense_Mutation_p.P305L NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 ATAGATGAGGGGGTTGAGGGT 0.493000 11 33 0 0 0.000978 0 0 CCNB3 85417 broad.mit.edu 37 X 50053951 50053951 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:50053951G>A ENST00000376042.1 + 6 3080 c.2782G>A c.(2782-2784)Gaa>Aaa p.E928K CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E928K Q8WWL7 CCNB3_HUMAN cyclin B3 928 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AGTCCTCTTCGAAGATATGAT 0.468000 13 10 0 0 0.004007 0 0 DNAH7 56171 broad.mit.edu 37 2 196746715 196746715 + Splice_Site SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:196746715C>T ENST00000312428.6 - 36 5865 c.5763_splice c.e36-1 p.G1922_splice NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1922 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 TTTTCCTATTCCCTGTTTATA 0.338000 17 27 0 0 0.006122 0 0 TM9SF3 56889 broad.mit.edu 37 10 98303926 98303926 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:98303926G>A ENST00000371142.4 - 9 1308 c.1092C>T c.(1090-1092)ttC>ttT p.F364F TM9SF3_ENST00000490192.1_5'UTR NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 364 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) CTGGGATAAGGAATGCCCCAA 0.353000 9 39 0 0 0.000673 0 0 CPZ 8532 broad.mit.edu 37 4 8620164 8620164 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:8620164G>A ENST00000429646.2 + 8 3129 c.336G>A c.(334-336)cgG>cgA p.R112R CPZ_ENST00000360986.4_Silent_p.R504R|CPZ_ENST00000315782.6_Silent_p.R493R|CPZ_ENST00000382480.2_Silent_p.R367R Q66K79 CBPZ_HUMAN carboxypeptidase Z 504 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGGTGCACCGGGGCATCAAAG 0.592000 14 51 0 0 0.006122 0 0 POLL 27343 broad.mit.edu 37 10 103339389 103339389 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:103339389G>A ENST00000370162.3 - 9 2043 c.1549C>T c.(1549-1551)Cga>Tga p.R517* DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Nonsense_Mutation_p.R517*|POLL_ENST00000370168.3_Nonsense_Mutation_p.R190*|POLL_ENST00000370172.1_Nonsense_Mutation_p.R429*|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Nonsense_Mutation_p.R240*|POLL_ENST00000370158.3_Nonsense_Mutation_p.R242*|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000456836.2_Nonsense_Mutation_p.R254*|POLL_ENST00000370169.1_Nonsense_Mutation_p.R517* NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 517 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GCCAGGGCTCGCATGGAGCGG 0.627000 DNA polymerases (catalytic subunits) 22 68 0 0 0.003954 0 0 HSF2 3298 broad.mit.edu 37 6 122744791 122744791 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:122744791C>T ENST00000452194.1 + 10 1323 c.1136C>T c.(1135-1137)tCa>tTa p.S379L HSF2_ENST00000465214.1_3'UTR|HSF2_ENST00000368455.4_Missense_Mutation_p.S379L NM_001135564.1 NP_001129036.1 Q03933 HSF2_HUMAN heat shock transcription factor 2 379 Hydrophobic repeat HR-C. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) GCCATGCTATCAGGAAGACAA 0.348000 13 14 0 0 0.004990 0 0 OR2S2 56656 broad.mit.edu 37 9 35958057 35958057 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:35958057G>A ENST00000341959.2 - 1 94 c.39C>T c.(37-39)ttC>ttT p.F13F NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) TCAGGAGAACGAACCCCATCA 0.537000 20 30 0 0 0.001882 0 0 ZDHHC8P1 150244 broad.mit.edu 37 22 23742356 23742356 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:23742356G>A ENST00000255890.4 - 0 853 TGGGTCGCCCGTTGCCCCAGG 0.692000 8 13 0 0 0.000978 0 0 ZFAS1 441951 broad.mit.edu 37 20 47897250 47897250 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:47897250C>T ENST00000450535.1 + 0 730 ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000371743.3_RNA|SNORD12_ENST00000391002.1_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000458653.1_RNA AGCTTCTTTCCCCATCAGATC 0.453000 39 77 0 0 0.003610 0 0 SYT10 341359 broad.mit.edu 37 12 33592343 33592343 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:33592343G>A ENST00000228567.3 - 1 411 c.115C>T c.(115-117)Cct>Tct p.P39S SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 39 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTGTCCCGAGGGAAGATGCCC 0.682000 31 67 0 0 0.001786 0 0 RNF17 56163 broad.mit.edu 37 13 25353861 25353861 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr13:25353861C>T ENST00000255324.5 + 5 538 c.486C>T c.(484-486)ttC>ttT p.F162F RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Silent_p.F162F|RNF17_ENST00000381921.1_Silent_p.F162F NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 162 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACCATAGTTTCGAACAGTTAA 0.348000 18 30 0 0 0.006122 0 0 ADAM28 10863 broad.mit.edu 37 8 24181424 24181424 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:24181424C>T ENST00000265769.4 + 9 908 c.798C>T c.(796-798)acC>acT p.T266T RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.T266T|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Silent_p.T33T|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.T13T|RP11-624C23.1_ENST00000523700.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 266 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TAAAGATAACCCCAAATGCAA 0.383000 4 6 0 0 0.000248 0 0 IGHV1-24 28467 broad.mit.edu 37 14 106733245 106733245 + RNA SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:106733245G>A ENST00000390610.2 - 0 309 ACTCTGCCCTGGAACTTCTGT 0.522000 49 183 0 0 0.003214 0 0 VWF 7450 broad.mit.edu 37 12 6127662 6127662 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:6127662C>T ENST00000261405.5 - 28 5176 c.4922G>A c.(4921-4923)aGg>aAg p.R1641K NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1641 VWFA 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCAGCCAATCCTCTCCAGCTC 0.612000 27 24 0 0 0.001786 0 0 GRM1 2911 broad.mit.edu 37 6 146755485 146755485 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:146755485G>A ENST00000361719.2 + 9 3608 c.3138G>A c.(3136-3138)ccG>ccA p.P1046P GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Silent_p.P1046P NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1046 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCGCGATCCCGGATTTTCACG 0.677000 8 32 0 0 0.003080 0 0 STARD4 134429 broad.mit.edu 37 5 110835784 110835784 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:110835784C>T ENST00000296632.3 - 6 552 c.418G>A c.(418-420)Gaa>Aaa p.E140K STARD4_ENST00000512160.1_3'UTR NM_139164.1 NP_631903.1 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 140 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) GGTCTCTTTTCATCCCAGTCA 0.333000 12 20 0 0 0.003163 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20874906 20874906 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:20874906C>T ENST00000381552.1 + 8 1312 c.944C>T c.(943-945)tCc>tTc p.S315F SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S197F|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S266F|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S315F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S315F Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 315 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TCTGAGAAATCCAAGTTTATT 0.373000 12 18 0 0 0.001368 0 0 SLC13A2 9058 broad.mit.edu 37 17 26817355 26817355 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:26817355G>A ENST00000444914.3 + 3 682 c.262G>A c.(262-264)Gag>Aag p.E88K SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000545060.1_Intron NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 66 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity p.E88*(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) ATCCAGTTTCGAGAGCCCAGG 0.522000 21 18 0 0 0.001216 0 0 PRRG3 79057 broad.mit.edu 37 X 150868980 150868980 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:150868980G>A ENST00000370353.3 + 4 561 c.171G>A c.(169-171)atG>atA p.M57I PRRG3_ENST00000370354.1_3'UTR|PRRG3_ENST00000538575.1_Missense_Mutation_p.M57I Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 57 Gla. extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) TTTTGCAGATGGAGTTCTGGA 0.532000 11 89 0 0 0.000978 0 0 NPSR1 387129 broad.mit.edu 37 7 34874056 34874056 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:34874056G>A ENST00000360581.1 + 6 869 c.741G>A c.(739-741)gtG>gtA p.V247V NPSR1_ENST00000381539.3_Silent_p.V247V|NPSR1_ENST00000359791.1_Silent_p.V247V|NPSR1_ENST00000381542.1_Silent_p.V181V|NPSR1_ENST00000531252.1_Silent_p.V236V NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 247 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) ACGAAACAGTGATTTCCAACT 0.423000 18 22 0 0 0.001882 0 0 ADAM18 8749 broad.mit.edu 37 8 39468132 39468132 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:39468132G>A ENST00000265707.5 + 6 474 c.429G>A c.(427-429)atG>atA p.M143I ADAM18_ENST00000379866.1_Missense_Mutation_p.M143I|ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000520772.1_Missense_Mutation_p.M143I NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 143 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTTATCAAATGAAAAATAATG 0.333000 11 29 0 0 0.000673 0 0 LZTS2 84445 broad.mit.edu 37 10 102763647 102763647 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:102763647C>T ENST00000370220.1 + 2 3855 c.792C>T c.(790-792)gtC>gtT p.V264V LZTS2_ENST00000370223.3_Silent_p.V264V Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 264 Required for centrosomal localization (By similarity).|Ser-rich. cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) CCCGAGGGGTCCCTACTGGGC 0.701000 7 24 0 0 0.001984 0 0 HERC2 8924 broad.mit.edu 37 15 28370267 28370267 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:28370267G>A ENST00000261609.7 - 84 12983 c.12875C>T c.(12874-12876)cCt>cTt p.P4292L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4292 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TACCAACCGAGGCCTCTGGAT 0.557000 59 127 0 0 0.003610 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232951 1232951 + Silent SNP C C G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:1232951C>G ENST00000324642.3 + 3 510 c.387C>G c.(385-387)tcC>tcG p.S129S SLC6A18_ENST00000296821.4_Silent_p.S129S NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 129 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCTCAACTCCTTCCAGCACC 0.647000 21 40 0 0 0.002299 0 0 SCNN1G 6340 broad.mit.edu 37 16 23224185 23224185 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:23224185C>T ENST00000300061.2 + 10 1544 c.1401C>T c.(1399-1401)agC>agT p.S467S CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 467 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TAACCACAAGCCTGGCACAAT 0.577000 27 35 0 0 0.004656 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877951 76877951 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:76877951T>A ENST00000328299.3 + 3 620 c.472T>A c.(472-474)Ttc>Atc p.F158I ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 158 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TTGGGGACCTTTCCGCAATAT 0.393000 8 25 0 0 0.004482 0 0 MED15 51586 broad.mit.edu 37 22 20937674 20937674 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:20937674C>T ENST00000263205.7 + 13 1799 c.1730C>T c.(1729-1731)tCg>tTg p.S577L MED15_ENST00000382974.2_Missense_Mutation_p.S466L|MED15_ENST00000406969.1_Missense_Mutation_p.S511L|MED15_ENST00000425759.2_Missense_Mutation_p.S426L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.S537L|MED15_ENST00000541476.1_Missense_Mutation_p.S511L NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 577 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ACAGACCCCTCGAAGCGGTGA 0.537000 25 90 0 0 0.004656 0 0 OR2L2 26246 broad.mit.edu 37 1 248202499 248202499 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:248202499G>A ENST00000366479.2 + 1 1026 c.930G>A c.(928-930)gtG>gtA p.V310V OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) TCTTCTCAGTGAAAATGTAGA 0.438000 25 35 0 0 0.001512 0 0 EBF2 64641 broad.mit.edu 37 8 25708231 25708231 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:25708231G>A ENST00000520164.1 - 15 2112 c.1575C>T c.(1573-1575)atC>atT p.I525I EBF2_ENST00000408929.3_Silent_p.I377I|EBF2_ENST00000535548.1_3'UTR NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 525 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AAAATGGGAGGATGGAGGATG 0.498000 9 39 0 0 0.000443 0 0 WDR66 144406 broad.mit.edu 37 12 122437759 122437759 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:122437759C>T ENST00000288912.4 + 20 3998 c.3144C>T c.(3142-3144)atC>atT p.I1048I NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 1048 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TGAGTGGCATCCACAAGAGCT 0.448000 25 37 0 0 0.003954 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139727 142139727 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:142139727C>T ENST00000390374.3 - 0 88 CTCACCTGTCCCTAGGAAACC 0.532000 28 67 0 0 0.002836 0 0 POTEE 445582 broad.mit.edu 37 2 131976027 131976027 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:131976027T>G ENST00000356920.5 + 1 146 c.52T>G c.(52-54)Ttt>Gtt p.F18V POTEE_ENST00000358087.5_Missense_Mutation_p.F18V|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 18 ATP binding p.F18fs*107(1) GAAGAAGCCATTTGGTCTCAG 0.557000 50 61 0 0 0.003610 0 0 SCN11A 11280 broad.mit.edu 37 3 38946740 38946740 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:38946740G>A ENST00000302328.3 - 11 1744 c.1546C>T c.(1546-1548)Cct>Tct p.P516S SCN11A_ENST00000444237.2_Missense_Mutation_p.P516S|SCN11A_ENST00000450244.1_Missense_Mutation_p.P516S|SCN11A_ENST00000456224.3_Missense_Mutation_p.P516S NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 516 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTTTGGAGAGGATCTCCATGC 0.498000 46 93 0 0 0.002852 0 0 CALCRL 10203 broad.mit.edu 37 2 188225386 188225386 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:188225386G>A ENST00000409998.1 - 11 1501 c.720C>T c.(718-720)ctC>ctT p.L240L AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.L240L|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Silent_p.L240L Q16602 CALRL_HUMAN calcitonin receptor-like 240 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) CCACCACAATGAGTGTGTGTA 0.403000 4 12 0 0 0.000602 0 0 ZBTB4 57659 broad.mit.edu 37 17 7369619 7369619 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:7369619G>A ENST00000311403.4 - 3 841 c.502C>T c.(502-504)Cgc>Tgc p.R168C ZBTB4_ENST00000380599.4_Missense_Mutation_p.R168C NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CCCAGACGGCGCCCCAAAGCT 0.647000 10 8 0 0 0.001855 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144060387 144060387 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:144060387G>A ENST00000056217.5 + 2 799 c.625G>A c.(625-627)Gag>Aag p.E209K NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 209 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) GCAGGGGGAAGAGCTGCCACC 0.552000 56 361 0 0 0.003610 0 0 SPHKAP 80309 broad.mit.edu 37 2 228846549 228846549 + Missense_Mutation SNP G G A rs62621004 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:228846549G>A ENST00000392056.3 - 12 5033 c.4987C>T c.(4987-4989)Cgg>Tgg p.R1663W SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1634W NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1663 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) CAGGACTTCCGATGAACCAGC 0.493000 18 19 0 0 0.002299 0 0 IRAK2 3656 broad.mit.edu 37 3 10261447 10261447 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:10261447G>A ENST00000256458.4 + 8 1077 c.987G>A c.(985-987)ctG>ctA p.L329L NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 329 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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 cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 TGCATGGTCTGGAGATCATCC 0.617000 13 21 0 0 0.004007 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820324 159820324 + RNA SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:159820324C>T ENST00000497452.1 - 0 517 GAGCACCAGACCCCCTCCCAA 0.458000 19 39 0 0 0.006122 0 0 CSMD1 64478 broad.mit.edu 37 8 3200950 3200950 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:3200950G>A ENST00000602557.1 - 24 4055 c.3500C>T c.(3499-3501)tCc>tTc p.S1167F CSMD1_ENST00000539096.1_Missense_Mutation_p.S1166F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1167F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1166F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1166F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S1167F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1167F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1167 CUB 7. 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) TGGACGTGAGGAACTGTCTTT 0.423000 6 10 0 0 0.003080 0 0 SYNE1 23345 broad.mit.edu 37 6 152563399 152563399 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:152563399G>A ENST00000367255.5 - 107 20470 c.19869C>T c.(19867-19869)atC>atT p.I6623I SYNE1_ENST00000448038.1_Silent_p.I6552I|SYNE1_ENST00000423061.1_Silent_p.I6552I|SYNE1_ENST00000356820.4_Silent_p.I1147I|SYNE1_ENST00000341594.5_Silent_p.I6235I|SYNE1_ENST00000265368.4_Silent_p.I6623I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6623 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTAGTTGCTGGATTTCCTCTT 0.403000 HNSCC(10;0.0054) 17 68 0 0 0.001882 0 0 SLC17A6 57084 broad.mit.edu 37 11 22399224 22399224 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:22399224G>A ENST00000263160.3 + 12 2124 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 563 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 AAAGAAAGAGGAATTTGTACA 0.363000 6 17 0 0 0.001984 0 0 SEPP1 6414 broad.mit.edu 37 5 42804856 42804856 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:42804856G>A ENST00000514985.1 - 4 692 c.436C>T c.(436-438)Cat>Tat p.H146Y SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000511224.1_Missense_Mutation_p.H146Y|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.H146Y NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 146 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 AAACCAAGATGATATACAAGA 0.368000 19 19 0 0 0.001216 0 0 CTCFL 140690 broad.mit.edu 37 20 56094315 56094315 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:56094315C>T ENST00000426658.2 - 3 1534 c.873G>A c.(871-873)ctG>ctA p.L291L CTCFL_ENST00000429804.2_Silent_p.L291L|CTCFL_ENST00000539382.1_Silent_p.L86L|CTCFL_ENST00000423479.2_Silent_p.L291L|CTCFL_ENST00000371196.2_Silent_p.L291L|CTCFL_ENST00000422869.2_Silent_p.L291L|CTCFL_ENST00000422109.2_Silent_p.L291L|CTCFL_ENST00000502686.2_Silent_p.L29L|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000243914.3_Silent_p.L291L|CTCFL_ENST00000433949.2_Silent_p.L291L|CTCFL_ENST00000432255.2_Silent_p.L291L Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 291 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) GGAAGGTTTTCAGGCAGAGGT 0.473000 33 66 0 0 0.004289 0 0 H3F3C 440093 broad.mit.edu 37 12 31944860 31944860 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:31944860C>T ENST00000340398.3 - 1 315 c.241G>A c.(241-243)Gac>Aac p.D81N NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 81 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 AACCTCAGGTCAGTGTTGAAA 0.577000 HNSCC(67;0.2) 20 53 0 0 0.002299 0 0 ZNF99 7652 broad.mit.edu 37 19 22940086 22940086 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:22940086C>T ENST00000397104.3 - 6 2244 c.2245G>A c.(2245-2247)Gaa>Aaa p.E749K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CCACATTCTTCACATTTGTAG 0.358000 18 26 0 0 0.006122 0 0 CCDC11 220136 broad.mit.edu 37 18 47769408 47769408 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr18:47769408C>T ENST00000398545.4 - 6 1192 c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 359 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) CTGTCAAATTCTTTCTCCTGA 0.383000 83 68 0 0 0.003610 0 0 PARD3 56288 broad.mit.edu 37 10 34606153 34606153 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:34606153C>T ENST00000374789.3 - 20 3281 c.2956G>A c.(2956-2958)Gat>Aat p.D986N PARD3_ENST00000374773.1_Missense_Mutation_p.D953N|PARD3_ENST00000340077.5_Missense_Mutation_p.D983N|PARD3_ENST00000350537.4_Missense_Mutation_p.D940N|PARD3_ENST00000374794.3_Missense_Mutation_p.D911N|PARD3_ENST00000544292.1_Missense_Mutation_p.D699N|PARD3_ENST00000545260.1_Missense_Mutation_p.D896N|PARD3_ENST00000374790.3_Missense_Mutation_p.D926N|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374776.1_Missense_Mutation_p.D940N|PARD3_ENST00000346874.4_Missense_Mutation_p.D986N|PARD3_ENST00000374788.3_Missense_Mutation_p.D983N|PARD3_ENST00000545693.1_Missense_Mutation_p.D970N NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 986 Lys-rich. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) tcagtcttatcacctttctct 0.403000 13 44 0 0 0.001855 0 0 ANKS4B 257629 broad.mit.edu 37 16 21245187 21245187 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:21245187G>A ENST00000311620.5 + 1 202 c.129G>A c.(127-129)ggG>ggA p.G43G NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 43 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) CCTACCATGGGAACTTGGAAG 0.463000 47 77 0 0 0.003610 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722282 58722282 + Missense_Mutation SNP C C T rs151204927 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:58722282C>T ENST00000300079.5 + 5 369 c.319C>T c.(319-321)Cgt>Tgt p.R107C RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.R76C NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 76 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) AAACGTATATCGTATGTTCTC 0.383000 9 37 0 0 0.000443 0 0 IGFN1 91156 broad.mit.edu 37 1 201186546 201186546 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:201186546G>A ENST00000335211.4 + 17 9857 c.9727G>A c.(9727-9729)Ggg>Agg p.G3243R IGFN1_ENST00000295591.8_Missense_Mutation_p.G403R NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCGTAAGAAGGGGAGCAACAC 0.642000 25 76 0 0 0.001061 0 0 OR7E24 26648 broad.mit.edu 37 19 9362401 9362401 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:9362401C>T ENST00000456448.1 + 1 796 c.682C>T c.(682-684)Cct>Tct p.P228S NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 228 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 TGGCTGTCTCCCTATCTCAGG 0.438000 6 29 0 0 0.001984 0 0 ZNF471 57573 broad.mit.edu 37 19 57035811 57035811 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:57035811G>A ENST00000308031.5 + 5 508 c.375G>A c.(373-375)tgG>tgA p.W125* ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AAGAAAATTGGAAATGGGAAG 0.378000 11 48 0 0 0.000673 0 0 SMG6 23293 broad.mit.edu 37 17 2202428 2202428 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:2202428G>A ENST00000544865.1 - 2 2036 c.1526C>T c.(1525-1527)cCa>cTa p.P509L SMG6_ENST00000263073.5_Missense_Mutation_p.P540L Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 540 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GTAAGGCCCTGGGTACACACC 0.577000 8 132 0 0 0.004482 0 0 PAX5 5079 broad.mit.edu 37 9 37015113 37015113 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:37015113T>A ENST00000358127.4 - 3 365 c.291A>T c.(289-291)gaA>gaT p.E97D PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.E97D|PAX5_ENST00000520281.1_Missense_Mutation_p.E97D|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000377847.2_Missense_Mutation_p.E97D|PAX5_ENST00000414447.1_Missense_Mutation_p.E97D|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000523241.1_Missense_Mutation_p.E97D|PAX5_ENST00000520154.1_Missense_Mutation_p.E97D|PAX5_ENST00000377852.2_Missense_Mutation_p.E97D NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 97 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(42) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CAGCGATTTTTTCCACCACTT 0.507000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 120 211 0 0 0.003610 0 0 PSD2 84249 broad.mit.edu 37 5 139193026 139193026 + Missense_Mutation SNP T T G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:139193026T>G ENST00000274710.3 + 3 709 c.504T>G c.(502-504)gaT>gaG p.D168E NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 168 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTCACGGATGAGAGCGACA 0.652000 19 23 0 0 0.001523 0 0 OR2A12 346525 broad.mit.edu 37 7 143793115 143793115 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:143793115G>A ENST00000408949.2 + 1 975 c.915G>A c.(913-915)tgG>tgA p.W305* NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GAGTCCTTTGGAAACAGAGAT 0.423000 63 121 0 0 0.003610 0 0 TNPO3 23534 broad.mit.edu 37 7 128630095 128630095 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:128630095A>G ENST00000393245.1 - 11 1893 c.1520T>C c.(1519-1521)gTa>gCa p.V507A TNPO3_ENST00000265388.5_Missense_Mutation_p.V473A|TNPO3_ENST00000471166.1_Missense_Mutation_p.V507A|TNPO3_ENST00000471234.1_Missense_Mutation_p.V473A|TNPO3_ENST00000482320.1_Missense_Mutation_p.V407A NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 473 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 AGCCGTATGTACGGTCTCCGG 0.473000 34 52 0 0 0.003755 0 0 FBLIM1 54751 broad.mit.edu 37 1 16101277 16101277 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:16101277G>A ENST00000375766.3 + 7 1516 c.876G>A c.(874-876)ctG>ctA p.L292L FBLIM1_ENST00000375771.1_Silent_p.L292L|FBLIM1_ENST00000400773.1_Silent_p.L195L|FBLIM1_ENST00000332305.5_Silent_p.L195L|FBLIM1_ENST00000441801.2_Silent_p.L292L NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 292 LIM zinc-binding 2.|PLEKHC1-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) TGTACTGCCTGGACGACTTCT 0.622000 50 49 0 0 0.003610 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153276335 153276335 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:153276335T>C ENST00000290722.1 - 4 579 c.527A>G c.(526-528)aAg>aGg p.K176R NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 176 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGTCTTACCCTTCCTGGGCAT 0.532000 32 80 0 0 0.001287 0 0 OR6N1 128372 broad.mit.edu 37 1 158736456 158736456 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158736456C>T ENST00000335094.2 - 1 36 c.17G>A c.(16-18)tGg>tAg p.W6* NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) TACCTGGCTCCAGTTCCCTGT 0.463000 5 16 0 0 0.001984 0 0 INTS8 55656 broad.mit.edu 37 8 95850803 95850803 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:95850803C>T ENST00000523731.1 + 8 1107 c.974C>T c.(973-975)cCa>cTa p.P325L INTS8_ENST00000447247.1_Missense_Mutation_p.P325L NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 325 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) CAGTTGACTCCATATAGTCAA 0.408000 207 445 0 0 0.003610 0 0 KIAA1407 57577 broad.mit.edu 37 3 113724708 113724708 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:113724708A>G ENST00000295878.3 - 10 1661 c.1515T>C c.(1513-1515)ggT>ggC p.G505G KIAA1407_ENST00000545063.1_Silent_p.G336G NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 505 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 TCTGAAGGGAACCCTGCAAGT 0.547000 44 80 0 0 0.003214 0 0 KDM6B 23135 broad.mit.edu 37 17 7752023 7752023 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:7752023C>T ENST00000254846.5 + 11 2806 c.2417C>T c.(2416-2418)tCc>tTc p.S806F KDM6B_ENST00000448097.2_Missense_Mutation_p.S806F NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 806 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGCTCAAATCCTTGGCCTCC 0.647000 26 16 0 0 0.004656 0 0 NLRP12 91662 broad.mit.edu 37 19 54318225 54318225 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:54318225G>A ENST00000324134.6 - 2 475 c.307C>T c.(307-309)Ccg>Tcg p.P103S NLRP12_ENST00000354278.3_Missense_Mutation_p.P103S|NLRP12_ENST00000351894.4_Missense_Mutation_p.P103S|NLRP12_ENST00000391772.1_Missense_Mutation_p.P103S|NLRP12_ENST00000535162.1_Missense_Mutation_p.P103S|NLRP12_ENST00000345770.5_Missense_Mutation_p.P103S|NLRP12_ENST00000391773.1_Missense_Mutation_p.P103S|NLRP12_ENST00000391775.3_Missense_Mutation_p.P103S NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 103 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGTGAGGACGGGCCACCAGGT 0.493000 42 69 0 0 0.003610 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241516377 241516377 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:241516377C>T ENST00000270357.3 + 10 1754 c.1161C>T c.(1159-1161)ctC>ctT p.L387L RNPEPL1_ENST00000464550.1_3'UTR NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 387 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) ATCCTGACCTCCACAGGGTGC 0.652000 17 61 0 0 0.001216 0 0 ACTR1A 10121 broad.mit.edu 37 10 104241783 104241783 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:104241783G>A ENST00000369905.4 - 8 963 c.900C>T c.(898-900)ctC>ctT p.L300L ACTR1A_ENST00000446605.2_Silent_p.L253L|ACTR1A_ENST00000487599.1_Silent_p.L300L|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000545684.1_Silent_p.L226L NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 300 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) AGCCTCCTGAGAGGACAATGT 0.542000 11 41 0 0 0.000673 0 0 ROR2 4920 broad.mit.edu 37 9 94486784 94486784 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:94486784G>A ENST00000375708.3 - 9 2190 c.1992C>T c.(1990-1992)atC>atT p.I664I ROR2_ENST00000375715.1_Silent_p.I524I|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 664 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGCCGTACATGATGGCCTCTG 0.592000 16 17 0 0 0.004990 0 0 ITIH5 80760 broad.mit.edu 37 10 7697622 7697622 + Missense_Mutation SNP G G A rs139355305 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:7697622G>A ENST00000256861.6 - 2 185 c.107C>T c.(106-108)cCg>cTg p.P36L ITIH5_ENST00000397146.2_Missense_Mutation_p.P36L|ITIH5_ENST00000397145.2_Missense_Mutation_p.P36L|ITIH5_ENST00000446830.2_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 36 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GACTTGCCTCGGGACCCTGAG 0.403000 15 59 0 0 0.006122 0 0 GRM4 2914 broad.mit.edu 37 6 34101214 34101214 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:34101214G>A ENST00000374181.3 - 1 229 c.60C>T c.(58-60)ctC>ctT p.L20L GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Silent_p.L20L NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 20 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CGTAAAGGCTGAGGAGCAGGC 0.622000 18 28 0 0 0.000958 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64601088 64601088 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:64601088T>C ENST00000498707.1 - 21 3440 c.3098A>G c.(3097-3099)gAt>gGt p.D1033G ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1005G NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1033 TSP type-1 4. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTTGCTGTCATCCAGTACATC 0.438000 160 361 0 0 0.003610 0 0 SOS1 6654 broad.mit.edu 37 2 39224440 39224440 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:39224440T>A ENST00000426016.1 - 19 3004 c.2918A>T c.(2917-2919)cAg>cTg p.Q973L SOS1_ENST00000402219.2_Missense_Mutation_p.Q973L|SOS1_ENST00000395038.2_Missense_Mutation_p.Q973L Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 973 Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) ATTTTGGTACTGCTGGATCTC 0.343000 Noonan syndrome 28 108 0 0 0.001271 0 0 BCL11A 53335 broad.mit.edu 37 2 60688871 60688871 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:60688871C>T ENST00000335712.6 - 4 1403 c.1176G>A c.(1174-1176)ctG>ctA p.L392L BCL11A_ENST00000538214.1_Silent_p.L358L|BCL11A_ENST00000537768.1_Silent_p.L61L|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Silent_p.L392L|BCL11A_ENST00000358510.4_Silent_p.L358L NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 392 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GGTGCACCACCAGGTTGCTCT 0.627000 T IGH@ B-CLL 148 192 0 0 0.003610 0 0 LANCL2 55915 broad.mit.edu 37 7 55496114 55496114 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:55496114C>T ENST00000254770.2 + 8 1810 c.1232C>T c.(1231-1233)cCt>cTt p.P411L NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 411 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) TGCCGCATTCCTGACAGACCC 0.448000 20 58 0 0 0.001523 0 0 ANLN 54443 broad.mit.edu 37 7 36458935 36458935 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:36458935C>T ENST00000265748.2 + 10 1937 c.1716C>T c.(1714-1716)gtC>gtT p.V572V ANLN_ENST00000396068.2_Silent_p.V535V NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 572 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 TCAGTGATGTCCTAGAGGAAG 0.383000 20 47 0 0 0.001216 0 0 DOCK1 1793 broad.mit.edu 37 10 129202694 129202694 + Splice_Site SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:129202694G>A ENST00000280333.6 + 40 4168 c.e40+1 NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) ATTCCTGCGGGTAAAGTTTGG 0.507000 4 12 0 0 0.000602 0 0 FAM71A 149647 broad.mit.edu 37 1 212799628 212799628 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:212799628G>A ENST00000294829.3 + 1 1840 c.1409G>A c.(1408-1410)aGa>aAa p.R470K RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 470 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) AGAGCCAATAGAGATGACAAA 0.562000 20 82 0 0 0.001882 0 0 MED12L 116931 broad.mit.edu 37 3 150908568 150908568 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:150908568C>T ENST00000474524.1 + 13 1856 c.1818C>T c.(1816-1818)ttC>ttT p.F606F MED12L_ENST00000309237.4_Silent_p.F606F|MED12L_ENST00000422248.2_Silent_p.F606F|MED12L_ENST00000273432.4_Silent_p.F466F NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 606 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTGCGAGTTCATCCGCCATG 0.478000 17 38 0 0 0.004990 0 0 GPT 2875 broad.mit.edu 37 8 145731981 145731981 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:145731981G>A ENST00000394955.2 + 9 1452 c.1229G>A c.(1228-1230)gGc>gAc p.G410D GPT_ENST00000528431.1_Missense_Mutation_p.G410D NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 410 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCAGTGCAGGGCGCCATGTAC 0.721000 4 4 0 0 0.000248 0 0 RIMBP2 23504 broad.mit.edu 37 12 130919319 130919319 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:130919319G>A ENST00000261655.4 - 11 2325 c.2162C>T c.(2161-2163)tCg>tTg p.S721L RIMBP2_ENST00000535703.1_Missense_Mutation_p.S629L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S629L NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 721 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GTCGTCCACCGAGGCGCCCCT 0.657000 20 77 0 0 0.001523 0 0 PYHIN1 149628 broad.mit.edu 37 1 158912086 158912086 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:158912086T>C ENST00000368140.1 + 5 1144 c.899T>C c.(898-900)gTt>gCt p.V300A PYHIN1_ENST00000392252.3_Missense_Mutation_p.V291A|PYHIN1_ENST00000368138.3_Missense_Mutation_p.V291A|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.V300A NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 300 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) ACGTTTGAGGTTCCAAAGGAC 0.348000 12 37 0 0 0.001368 0 0 MEGF10 84466 broad.mit.edu 37 5 126790295 126790295 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:126790295C>T ENST00000274473.6 + 24 3285 c.3018C>T c.(3016-3018)tcC>tcT p.S1006S MEGF10_ENST00000503335.2_Silent_p.S1006S|MEGF10_ENST00000510828.1_3'UTR NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1006 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TGGGAAAATCCTTAAAAGGTA 0.323000 21 18 0 0 0.003954 0 0 DCTN1 1639 broad.mit.edu 37 2 74598765 74598765 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:74598765C>T ENST00000361874.3 - 8 861 c.544G>A c.(544-546)Gag>Aag p.E182K DCTN1_ENST00000409567.3_Missense_Mutation_p.E162K|DCTN1_ENST00000409868.1_Missense_Mutation_p.E165K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E175K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E48K|DCTN1_ENST00000409438.1_Missense_Mutation_p.E48K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E145K NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 182 Ser-rich. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 GTGCTGGGCTCACTGCTGCTC 0.672000 8 6 0 0 0.004482 0 0 TRAK1 22906 broad.mit.edu 37 3 42264721 42264721 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:42264721C>T ENST00000327628.5 + 16 2754 c.2354C>T c.(2353-2355)tCg>tTg p.S785L TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S727L NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 785 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CCGCCGAACTCGCCTATGCAG 0.632000 21 29 0 0 0.002780 0 0 PNMA5 114824 broad.mit.edu 37 X 152158808 152158808 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:152158808G>A ENST00000439251.1 - 2 1773 c.1335C>T c.(1333-1335)ccC>ccT p.P445P PNMA5_ENST00000361887.5_Silent_p.P445P|PNMA5_ENST00000535214.1_Silent_p.P445P|PNMA5_ENST00000452693.1_Silent_p.P445P NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 445 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ATGTTTCCCAGGGCTTGGGAT 0.597000 31 18 0 0 0.003755 0 0 FAM110C 642273 broad.mit.edu 37 2 46017 46017 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:46017C>T ENST00000327669.4 - 1 368 c.369G>A c.(367-369)gtG>gtA p.V123V NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 123 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) AGAGCTTCTTCACCAGGCTTG 0.672000 9 11 0 0 0.000978 0 0 COL12A1 1303 broad.mit.edu 37 6 75797404 75797404 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:75797404C>T ENST00000322507.8 - 65 9379 c.9070G>A c.(9070-9072)Ggc>Agc p.G3024S COL12A1_ENST00000345356.6_Missense_Mutation_p.G1860S|COL12A1_ENST00000483888.2_Missense_Mutation_p.G3020S|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2948S NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 3024 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 CCAGGGGGGCCAGGGGGACCT 0.542000 44 70 0 0 0.003610 0 0 LTBP1 4052 broad.mit.edu 37 2 33623595 33623595 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:33623595G>A ENST00000404816.2 + 34 5502 c.5149G>A c.(5149-5151)Gac>Aac p.D1717N LTBP1_ENST00000402934.1_Missense_Mutation_p.D1336N|LTBP1_ENST00000418533.2_Missense_Mutation_p.D1349N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1338N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1718N|LTBP1_ENST00000272273.5_Missense_Mutation_p.D615N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D1392N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D1391N Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1717 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) TTTAGAGAAAGACAGTGACCT 0.438000 18 69 0 0 0.000958 0 0 MYO7B 4648 broad.mit.edu 37 2 128324317 128324317 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:128324317G>A ENST00000389524.4 + 5 438 c.385G>A c.(385-387)Gag>Aag p.E129K MYO7B_ENST00000409816.2_Missense_Mutation_p.E129K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E129K Q6PIF6 MYO7B_HUMAN myosin VIIB 129 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CCATATGGGCGAGCTGCCCCC 0.587000 14 13 0 0 0.003163 0 0 ZNF91 7644 broad.mit.edu 37 19 23542804 23542804 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:23542804G>A ENST00000300619.7 - 4 3182 c.2977C>T c.(2977-2979)Ccc>Tcc p.P993S ZNF91_ENST00000397082.2_Missense_Mutation_p.P961S|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 993 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CATTTGTAGGGTTTCTCTCCA 0.388000 6 52 0 0 0.001168 0 0 CACNA1H 8912 broad.mit.edu 37 16 1256116 1256116 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:1256116C>T ENST00000348261.5 + 12 2864 c.2616C>T c.(2614-2616)atC>atT p.I872I CACNA1H_ENST00000565831.1_Silent_p.I872I|CACNA1H_ENST00000358590.4_Silent_p.I872I NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 872 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TCTGGGAGATCGTGGGGCAGG 0.706000 3 1 0 0 0.004672 0 0 CYP3A4 1576 broad.mit.edu 37 7 99359815 99359815 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:99359815G>A ENST00000354593.2 - 6 755 c.652C>T c.(652-654)Cca>Tca p.P218S CYP3A4_ENST00000336411.2_Missense_Mutation_p.P368S P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 368 P -> R (in allele CYP3A4*5; dbSNP:rs55901263). alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) ATAGCAATTGGGAATAATCTG 0.443000 16 45 0 0 0.004007 0 0 TPSG1 25823 broad.mit.edu 37 16 1272781 1272781 + Missense_Mutation SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:1272781G>T ENST00000234798.4 - 4 386 c.382C>A c.(382-384)Ctg>Atg p.L128M NM_012467.3 NP_036599.3 Q9NRR2 TRYG1_HUMAN tryptase gamma 1 128 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity liver(1)|lung(2)|skin(1) 4 Hepatocellular(780;0.00369) AGCTCCACCAGGGCGATGTCC 0.657000 7 17 5.4927e-09 1.14421e-08 0.004482 1 0 SUSD4 55061 broad.mit.edu 37 1 223408420 223408420 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:223408420G>A ENST00000344029.6 - 6 892 c.747C>T c.(745-747)ttC>ttT p.F249F SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000343846.3_Intron NM_001037175.2 NP_001032252.1 Q5VX71 SUSD4_HUMAN sushi domain containing 4 0 Sushi 4. integral to membrane p.F249F(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) AAAGGACAGGGAAAAGATGTT 0.398000 6 37 0 0 0.001984 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629301 9629301 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:9629301G>A ENST00000382492.2 - 1 1162 c.844C>T c.(844-846)Cct>Tct p.P282S CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 282 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 TTCAATTTAGGATTTCCTAAA 0.363000 24 41 0 0 0.003954 0 0 PDE2A 5138 broad.mit.edu 37 11 72288586 72288586 + Missense_Mutation SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr11:72288586A>G ENST00000334456.5 - 31 2913 c.2668T>C c.(2668-2670)Tcc>Ccc p.S890P PDE2A_ENST00000444035.2_Missense_Mutation_p.S881P|PDE2A_ENST00000544570.1_Missense_Mutation_p.S883P|PDE2A_ENST00000376450.3_Missense_Mutation_p.S634P|PDE2A_ENST00000540345.1_Missense_Mutation_p.S881P|PDE2A_ENST00000418754.2_Missense_Mutation_p.S775P NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 890 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TCACGGTTGGAGGCCACGCGC 0.617000 66 295 0 0 0.003610 0 0 GPSM1 26086 broad.mit.edu 37 9 139252516 139252516 + Silent SNP G G T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:139252516G>T ENST00000440944.1 + 14 2092 c.1872G>T c.(1870-1872)cgG>cgT p.R624R GPSM1_ENST00000429455.1_Silent_p.R115R|GPSM1_ENST00000392944.1_Silent_p.R115R NM_001145638.1 NP_001139110.1 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 624 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) TACTGCCCCGGGGCCCTACCA 0.687000 16 15 0.00121646 0.00251746 0.001216 1 0 ZNF335 63925 broad.mit.edu 37 20 44589505 44589505 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr20:44589505G>A ENST00000322927.2 - 11 1763 c.1663C>T c.(1663-1665)Ccg>Tcg p.P555S ZNF335_ENST00000426788.1_Missense_Mutation_p.P400S NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) AGACTCACCGGATCTGGCCTC 0.587000 8 18 0 0 0.000443 0 0 A1CF 29974 broad.mit.edu 37 10 52575901 52575901 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:52575901C>T ENST00000395489.2 - 11 1381 c.985G>A c.(985-987)Gat>Aat p.D329N A1CF_ENST00000374001.1_Missense_Mutation_p.D336N|A1CF_ENST00000282641.2_Missense_Mutation_p.D336N|A1CF_ENST00000373997.3_Missense_Mutation_p.D336N|A1CF_ENST00000395495.1_Missense_Mutation_p.D281N|A1CF_ENST00000493415.1_5'UTR|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.D344N|A1CF_ENST00000373993.1_Missense_Mutation_p.D336N NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 336 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GTGGTGGGATCATAAACTTGG 0.517000 4 17 0 0 0.000602 0 0 OSBPL10 114884 broad.mit.edu 37 3 31712392 31712392 + Missense_Mutation SNP A A T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:31712392A>T ENST00000396556.2 - 9 1932 c.1810T>A c.(1810-1812)Tgg>Agg p.W604R OSBPL10_ENST00000438237.2_Missense_Mutation_p.W540R NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 604 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) AGCTCCACCCACGGGATGGTG 0.562000 29 52 0 0 0.002836 0 0 MYO15A 51168 broad.mit.edu 37 17 18045051 18045051 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:18045051C>T ENST00000205890.5 + 23 5954 c.5616C>T c.(5614-5616)gtC>gtT p.V1872V MYO15A_ENST00000412324.1_3'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1872 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGTGCAAAGTCATGCCAAACA 0.577000 OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 39 0 0 0.003610 0 0 KIAA1841 84542 broad.mit.edu 37 2 61331052 61331052 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:61331052C>T ENST00000402291.1 + 13 1671 c.1430C>T c.(1429-1431)tCc>tTc p.S477F KIAA1841_ENST00000453873.1_Missense_Mutation_p.S477F|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S477F|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S477F NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 477 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) GATTTGCCGTCCTGTCCCACT 0.443000 17 50 0 0 0.006122 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20466686 20466686 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:20466686C>T ENST00000375102.3 + 2 246 c.144C>T c.(142-144)ttC>ttT p.F48F NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 5 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) AGAAGTTCTTCACCGTGGCCA 0.597000 30 25 0 0 0.002445 0 0 FAM13C 220965 broad.mit.edu 37 10 61028373 61028373 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:61028373C>T ENST00000373867.3 - 9 1098 c.633G>A c.(631-633)caG>caA p.Q211Q FAM13C_ENST00000442566.3_Silent_p.Q315Q|FAM13C_ENST00000373868.2_Silent_p.Q294Q|FAM13C_ENST00000422313.2_Silent_p.Q294Q|FAM13C_ENST00000468840.2_Silent_p.Q211Q|FAM13C_ENST00000419214.2_Silent_p.Q294Q|FAM13C_ENST00000277705.6_Silent_p.Q315Q|FAM13C_ENST00000435852.2_Silent_p.Q294Q NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 294 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCTTGAGGCTCTGGATGTGCT 0.498000 6 13 0 0 0.001984 0 0 MORC1 27136 broad.mit.edu 37 3 108818307 108818307 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:108818307G>A ENST00000232603.5 - 6 403 c.321C>T c.(319-321)tcC>tcT p.S107S MORC1_ENST00000483760.1_Silent_p.S107S NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 107 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CAATTCTCATGGACCCACTAT 0.353000 11 27 0 0 0.000673 0 0 CLEC5A 23601 broad.mit.edu 37 7 141631588 141631588 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:141631588A>G ENST00000546910.1 - 6 580 c.384T>C c.(382-384)ttT>ttC p.F128F CLEC5A_ENST00000551012.2_Silent_p.F105F|CLEC5A_ENST00000438351.1_Silent_p.F105F|CLEC5A_ENST00000470595.1_5'UTR|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000439991.1_Silent_p.F24F NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 128 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) TTAAGCCAATAAAATACTTCT 0.388000 25 79 0 0 0.005443 0 0 GRM3 2913 broad.mit.edu 37 7 86394533 86394533 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:86394533G>A ENST00000361669.2 + 2 1171 c.72G>A c.(70-72)ggG>ggA p.G24G GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Silent_p.G22G|GRM3_ENST00000439827.1_Silent_p.G24G|GRM3_ENST00000546348.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 24 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCTCTTTAGGGGACCATAACT 0.393000 7 14 0 0 0.001984 0 0 ABRA 137735 broad.mit.edu 37 8 107782250 107782250 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:107782250G>A ENST00000311955.3 - 1 223 c.169C>T c.(169-171)Cag>Tag p.Q57* NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 57 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GGTGAGTCCTGGGTCCCTCCC 0.617000 21 64 0 0 0.003954 0 0 CSF2RA 1438 broad.mit.edu 37 X 1404810 1404810 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:1404810C>T ENST00000381524.3 + 4 402 c.216C>T c.(214-216)ccC>ccT p.P72P CSF2RA_ENST00000355805.2_Silent_p.P72P|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381529.3_Silent_p.P72P|CSF2RA_ENST00000381509.3_Silent_p.P72P|CSF2RA_ENST00000432318.2_Silent_p.P72P|CSF2RA_ENST00000381500.1_Silent_p.P72P|CSF2RA_ENST00000417535.2_Silent_p.P72P|CSF2RA_ENST00000355432.3_Silent_p.P72P|CSF2RA_ENST00000361536.3_Silent_p.P72P P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 72 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 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) Sargramostim(DB00020) TCGTGGAACCCAGGGTGAGAC 0.517000 77 175 0 0 0.003610 0 0 NLRP3 114548 broad.mit.edu 37 1 247588508 247588508 + Missense_Mutation SNP G G A rs142624094 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:247588508G>A ENST00000366497.2 + 4 2543 c.1763G>A c.(1762-1764)aGg>aAg p.R588K NLRP3_ENST00000336119.3_Missense_Mutation_p.R588K|NLRP3_ENST00000391827.2_Missense_Mutation_p.R588K|NLRP3_ENST00000348069.2_Missense_Mutation_p.R588K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R588K|NLRP3_ENST00000366496.2_Missense_Mutation_p.R588K NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 588 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AACCAGGAGAGGACCTCCTAC 0.438000 61 38 0 0 0.003610 0 0 DOCK5 80005 broad.mit.edu 37 8 25240208 25240208 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:25240208T>C ENST00000276440.7 + 40 4089 c.4045T>C c.(4045-4047)Tat>Cat p.Y1349H NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1349 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GGCCTCATTTTATGAGAACAT 0.403000 7 13 0 0 0.001984 0 0 CCDC60 160777 broad.mit.edu 37 12 119909830 119909830 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:119909830G>A ENST00000327554.2 + 3 667 c.202G>A c.(202-204)Gga>Aga p.G68R CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 68 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GATAGGCCGTGGATATTTTGC 0.468000 45 71 0 0 0.003610 0 0 MEGF8 1954 broad.mit.edu 37 19 42862990 42862990 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:42862990C>T ENST00000334370.4 + 29 5661 c.5026C>T c.(5026-5028)Cct>Tct p.P1676S MEGF8_ENST00000251268.6_Missense_Mutation_p.P1743S NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1743 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GGGCCAAGTTCCTGGGGAGCA 0.597000 4 14 0 0 0.000602 0 0 CLIC2 1193 broad.mit.edu 37 X 154508605 154508605 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:154508605G>A ENST00000369449.2 - 5 633 c.415C>T c.(415-417)Ctg>Ttg p.L139L CLIC2_ENST00000465553.1_5'UTR NM_001289.4 NP_001280.3 O15247 CLIC2_HUMAN chloride intracellular channel 2 139 C-terminal.|GST C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCTTTGAGCAGAGATTTTTCA 0.373000 26 17 0 0 0.001786 0 0 LGR5 8549 broad.mit.edu 37 12 71898457 71898457 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:71898457G>A ENST00000266674.5 + 2 587 c.276G>A c.(274-276)ctG>ctA p.L92L LGR5_ENST00000536515.1_Silent_p.L92L|LGR5_ENST00000540815.2_Silent_p.L92L O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 92 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TCCGCTTCCTGGAGGAGTTGT 0.498000 50 86 0 0 0.003610 0 0 SNHG14 104472715 broad.mit.edu 37 15 25336868 25336868 + RNA SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:25336868T>C ENST00000546682.1 + 0 969 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 ATCCCACAGGTTGGTAAATGT 0.493000 8 18 0 0 0.003080 0 0 SFTPA2 729238 broad.mit.edu 37 10 81319087 81319087 + Missense_Mutation SNP T T A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:81319087T>A ENST00000372325.2 - 3 237 c.153A>T c.(151-153)aaA>aaT p.K51N SFTPA2_ENST00000372327.5_Missense_Mutation_p.K51N NM_001098668.2 NP_001092138.1 Q8IWL1 SFPA2_HUMAN surfactant protein A2 51 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CAGGGTCTCCTTTGACACCAT 0.632000 Pulmonary Fibrosis, Idiopathic 9 83 0 0 0.000443 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389905 150389905 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:150389905G>A ENST00000223293.5 + 3 625 c.531G>A c.(529-531)ggG>ggA p.G177G NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 177 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) CATGTGGTGGGCGAATCTGTG 0.473000 27 40 0 0 0.001061 0 0 ASAP1 50807 broad.mit.edu 37 8 131104224 131104224 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:131104224G>A ENST00000357668.1 - 24 2594 c.2567C>T c.(2566-2568)cCt>cTt p.P856L ASAP1_ENST00000518721.1_Missense_Mutation_p.P856L Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 856 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CTTACCCCAAGGAACTGCGCC 0.597000 38 104 0 0 0.001706 0 0 TDRD1 56165 broad.mit.edu 37 10 115962926 115962926 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:115962926G>A ENST00000251864.2 + 7 945 c.792G>A c.(790-792)atG>atA p.M264I TDRD1_ENST00000369282.1_Missense_Mutation_p.M264I|TDRD1_ENST00000369280.1_Missense_Mutation_p.M264I|TDRD1_ENST00000369281.2_Missense_Mutation_p.M264I|TDRD1_ENST00000422662.1_5'UTR NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 264 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) AGAAAACCATGGAAATAAAGG 0.368000 5 18 0 0 0.000602 0 0 CRYZL1 9946 broad.mit.edu 37 21 34994338 34994338 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:34994338G>A ENST00000361534.2 - 5 392 c.253C>T c.(253-255)Cct>Tct p.P85S AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000413017.2_Missense_Mutation_p.P61S|CRYZL1_ENST00000381540.3_Missense_Mutation_p.P61S|CRYZL1_ENST00000381554.3_Missense_Mutation_p.P61S|CRYZL1_ENST00000445393.1_Missense_Mutation_p.P61S|CRYZL1_ENST00000290244.5_Missense_Mutation_p.P61S O95825 QORL1_HUMAN crystallin, zeta (quinone reductase)-like 1 61 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding lung(1)|prostate(1)|urinary_tract(1) 3 CTCCCAACAGGAAATAAATCC 0.313000 32 104 0 0 0.001706 0 0 HEPH 9843 broad.mit.edu 37 X 65480098 65480098 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:65480098C>T ENST00000519389.1 + 19 3534 c.3355C>T c.(3355-3357)Cga>Tga p.R1119* HEPH_ENST00000336279.5_Nonsense_Mutation_p.R798*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R1068*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R1068*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R1065*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R876* Q9BQS7 HEPH_HUMAN hephaestin 1065 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TGTTTTTTCTCGAACAGGTAA 0.468000 3 2 0 0 0.000248 0 0 FLG 2312 broad.mit.edu 37 1 152282941 152282941 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:152282941C>T ENST00000368799.1 - 3 4456 c.4421G>A c.(4420-4422)cGa>cAa p.R1474Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1474 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGAGCTGTTTCGTGCCTGCTC 0.577000 Ichthyosis 74 209 0 0 0.003610 0 0 BVES 11149 broad.mit.edu 37 6 105564670 105564670 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:105564670G>A ENST00000314641.5 - 6 938 c.722C>T c.(721-723)tCa>tTa p.S241L BVES_ENST00000336775.5_Missense_Mutation_p.S241L|BVES_ENST00000446408.2_Missense_Mutation_p.S241L NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 241 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) GAAAGGTTCTGATTCCAGAAA 0.338000 13 42 0 0 0.001855 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926593 157926593 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:157926593C>T ENST00000389413.3 - 9 1435 c.1332G>A c.(1330-1332)gtG>gtA p.V444V PTPRN2_ENST00000409483.1_Silent_p.V406V|PTPRN2_ENST00000389416.4_Silent_p.V427V|PTPRN2_ENST00000389418.4_Silent_p.V444V|PTPRN2_ENST00000404321.2_Silent_p.V467V NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 444 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGACGTTCTCCACTCCGGCAG 0.602000 28 73 0 0 0.002096 0 0 SRPK1 6732 broad.mit.edu 37 6 35806524 35806524 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:35806524G>A ENST00000373822.1 - 15 1861 c.1418C>T c.(1417-1419)tCc>tTc p.S473F SRPK1_ENST00000373825.2_Intron|SRPK1_ENST00000423325.2_Intron Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 581 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 CCCACTGAGGGAAAAGCGTCT 0.418000 75 106 0 0 0.003610 0 0 ZNF608 57507 broad.mit.edu 37 5 123980094 123980094 + Missense_Mutation SNP C C G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:123980094C>G ENST00000306315.5 - 5 4401 c.3966G>C c.(3964-3966)tgG>tgC p.W1322C ZNF608_ENST00000504926.1_Missense_Mutation_p.W895C NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1322 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GAGAGTCCTTCCAGTTCACAG 0.473000 23 117 0 0 0.002780 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877316 24877316 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:24877316C>T ENST00000382554.3 + 3 758 c.440C>T c.(439-441)cCt>cTt p.P147L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 147 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GGCCCTGCCCCTCTGCTGACC 0.677000 6 18 0 0 0.001168 0 0 KIF6 221458 broad.mit.edu 37 6 39513388 39513388 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:39513388T>C ENST00000287152.7 - 11 1352 c.1258A>G c.(1258-1260)Aaa>Gaa p.K420E KIF6_ENST00000373213.4_Missense_Mutation_p.K259E|KIF6_ENST00000538893.1_Missense_Mutation_p.K420E|KIF6_ENST00000373215.3_Missense_Mutation_p.K420E|KIF6_ENST00000373216.3_Missense_Mutation_p.K420E NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 420 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TGATGAACTTTACGCATATCC 0.348000 29 30 0 0 0.003755 0 0 ADAM32 203102 broad.mit.edu 37 8 39027493 39027493 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:39027493C>T ENST00000379907.4 + 10 1019 c.892C>T c.(892-894)Cgt>Tgt p.R298C ADAM32_ENST00000437682.2_Missense_Mutation_p.R305C|ADAM32_ENST00000519315.1_Missense_Mutation_p.R298C NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 298 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.R297S(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GTGTATTACTCGTTATTCTGC 0.254000 12 42 0 0 0.006122 0 0 TNC 3371 broad.mit.edu 37 9 117808887 117808887 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:117808887C>T ENST00000350763.4 - 17 5338 c.4927G>A c.(4927-4929)Gat>Aat p.D1643N TNC_ENST00000535648.1_Missense_Mutation_p.D1188N|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.D1461N|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Missense_Mutation_p.D1097N|TNC_ENST00000423613.2_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.D1279N|TNC_ENST00000542877.1_Missense_Mutation_p.D1280N NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1643 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACCCCTTCATCAGCTGTCCAG 0.502000 28 22 0 0 0.001271 0 0 RPH3A 22895 broad.mit.edu 37 12 113314635 113314635 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:113314635G>A ENST00000389385.4 + 13 1632 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K RPH3A_ENST00000551052.1_Missense_Mutation_p.E375K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E330K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E379K|RPH3A_ENST00000447659.2_Missense_Mutation_p.E330K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E379K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.E379K NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 379 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) AGAGGAGGAGGAAGAGGAAGC 0.587000 18 27 0 0 0.002780 0 0 TRIOBP 11078 broad.mit.edu 37 22 38153678 38153678 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr22:38153678C>T ENST00000406386.3 + 16 6001 c.5746C>T c.(5746-5748)Ctg>Ttg p.L1916L RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Silent_p.L203L|TRIOBP_ENST00000403663.2_Silent_p.L203L NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1916 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAAGGGCCCCCTGAAGGCAGG 0.672000 5 1 0 0 0.001168 0 0 C7 730 broad.mit.edu 37 5 40934532 40934532 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr5:40934532G>A ENST00000313164.9 + 4 603 c.244G>A c.(244-246)Gag>Aag p.E82K NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 82 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ATGTCCAACAGAGGAGGGATG 0.468000 7 54 0 0 0.003080 0 0 CFAP54 144535 broad.mit.edu 37 12 97078890 97078890 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:97078890C>T ENST00000524981.3 + 9 1241 c.1241C>T c.(1240-1242)cCc>cTc p.P414L Q6ZTY8 CL063_HUMAN 388 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GAATTTGGCCCCTCACTCACC 0.463000 4 37 0 0 0.000248 0 0 CHPF2 54480 broad.mit.edu 37 7 150932643 150932643 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:150932643G>A ENST00000035307.2 + 2 2286 c.773G>A c.(772-774)tGg>tAg p.W258* CHPF2_ENST00000495645.1_Nonsense_Mutation_p.W250* NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 258 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 CCTGACGAGTGGCTTGGACGC 0.592000 34 60 0 0 0.002836 0 0 OR4N2 390429 broad.mit.edu 37 14 20295822 20295822 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:20295822C>T ENST00000315947.1 + 1 215 c.215C>T c.(214-216)tCc>tTc p.S72F OR4N2_ENST00000568211.1_Missense_Mutation_p.S72F NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGATGCATCCTACTCCTTC 0.493000 8 54 0 0 0.003163 0 0 ROBO1 6091 broad.mit.edu 37 3 78696802 78696802 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:78696802G>A ENST00000436010.2 - 18 3696 c.2699C>T c.(2698-2700)cCg>cTg p.P900L ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.P939L Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 939 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGTAAAAGACGGGACTGAAAA 0.343000 53 99 0 0 0.003610 0 0 REPS1 85021 broad.mit.edu 37 6 139266400 139266400 + Missense_Mutation SNP G G A rs142283202 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:139266400G>A ENST00000450536.2 - 4 1158 c.584C>T c.(583-585)gCg>gTg p.A195V REPS1_ENST00000367663.4_Missense_Mutation_p.A195V|REPS1_ENST00000415951.2_Missense_Mutation_p.A195V|REPS1_ENST00000258062.5_Missense_Mutation_p.A195V|REPS1_ENST00000409812.2_Missense_Mutation_p.A195V Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 195 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) CCCAGGTCCCGCGAGAGGCCT 0.527000 5 12 0 0 0.001168 0 0 TRPM1 4308 broad.mit.edu 37 15 31294290 31294290 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:31294290G>A ENST00000542188.1 - 27 4977 c.4664C>T c.(4663-4665)cCt>cTt p.P1555L RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.P1538L|TRPM1_ENST00000397795.2_Missense_Mutation_p.P1516L NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1516 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AGGGATTCGAGGAATTGCTTC 0.453000 66 185 0 0 0.003610 0 0 PSG9 5678 broad.mit.edu 37 19 43773535 43773535 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:43773535C>T ENST00000244293.7 - 1 115 c.49G>A c.(49-51)Ggg>Agg p.G17R PSG9_ENST00000291752.5_Missense_Mutation_p.G17R|PSG9_ENST00000593948.1_Missense_Mutation_p.G17R|PSG9_ENST00000270077.3_Missense_Mutation_p.G17R|PSG9_ENST00000443718.3_Missense_Mutation_p.G17R|PSG9_ENST00000418820.2_Missense_Mutation_p.G17R|PSG9_ENST00000596730.1_Missense_Mutation_p.G17R Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 17 female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGCAGGAGCCCCTTCCAGGTG 0.607000 34 64 0 0 0.002852 0 0 HSF2 3298 broad.mit.edu 37 6 122733790 122733790 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:122733790C>T ENST00000452194.1 + 3 398 c.211C>T c.(211-213)Cgt>Tgt p.R71C HSF2_ENST00000368455.4_Missense_Mutation_p.R71C NM_001135564.1 NP_001129036.1 Q03933 HSF2_HUMAN heat shock transcription factor 2 71 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) AGATGGTTTCCGTAAAGTAGT 0.343000 12 27 0 0 0.001368 0 0 SLX4 84464 broad.mit.edu 37 16 3640461 3640461 + Missense_Mutation SNP G G A rs144273492 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:3640461G>A ENST00000294008.3 - 12 3818 c.3178C>T c.(3178-3180)Cgg>Tgg p.R1060W NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1060 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding p.R1060W(1) breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CCACGGGACCGGGGTGTTGAC 0.637000 Direct reversal of damage 46 85 0 0 0.003610 0 0 KIAA0754 643314 broad.mit.edu 37 1 39880101 39880101 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:39880101A>G ENST00000530275.1 + 1 3951 c.3756A>G c.(3754-3756)ctA>ctG p.L1252L MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 1252 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCACAGTGCTACATGGGAAAG 0.458000 18 39 0 0 0.000958 0 0 TTN 7273 broad.mit.edu 37 2 179599464 179599464 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:179599464C>T ENST00000589042.1 - 51 15411 c.15187G>A c.(15187-15189)Gat>Aat p.D5063N TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D4746N|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D3819N|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4746 Ig-like 31. 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) CTGCAGCTATCACTGCCGACG 0.353000 20 51 0 0 0.003954 0 0 DOPEY1 23033 broad.mit.edu 37 6 83846981 83846981 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:83846981C>T ENST00000349129.2 + 21 3480 c.3220C>T c.(3220-3222)Cca>Tca p.P1074S DOPEY1_ENST00000237163.5_Missense_Mutation_p.P1055S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P1065S NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1074 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CACTGTGAATCCATTAAGTGA 0.388000 5 16 0 0 0.000602 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146513 70146513 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr4:70146513G>A ENST00000335568.5 + 1 297 c.295G>A c.(295-297)Gac>Aac p.D99N UGT2B28_ENST00000511240.1_Missense_Mutation_p.D99N NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 99 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GAGATGGTCAGACATTCAAAA 0.323000 9 17 0 0 0.004482 0 0 KIAA0895 23366 broad.mit.edu 37 7 36370647 36370647 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:36370647G>A ENST00000317020.6 - 5 1495 c.1195C>T c.(1195-1197)Caa>Taa p.Q399* KIAA0895_ENST00000440378.1_Nonsense_Mutation_p.Q447*|KIAA0895_ENST00000453212.1_Nonsense_Mutation_p.Q205*|KIAA0895_ENST00000436884.1_Nonsense_Mutation_p.Q347*|KIAA0895_ENST00000338533.5_Nonsense_Mutation_p.Q437*|KIAA0895_ENST00000297063.6_Nonsense_Mutation_p.Q450* NM_015314.2 NP_056129.2 Q8NCT3 K0895_HUMAN KIAA0895 450 breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CGGAGGATTTGAAGAATTCCA 0.428000 26 75 0 0 0.001512 0 0 OR4N4 283694 broad.mit.edu 37 15 22382955 22382955 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr15:22382955C>T ENST00000328795.4 + 1 574 c.483C>T c.(481-483)gtC>gtT p.V161V RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCCAGGTGGTCCTCATCCTCC 0.527000 19 37 0 0 0.002299 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134375 119134375 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:119134375T>C ENST00000264245.4 + 12 4131 c.3599T>C c.(3598-3600)gTc>gCc p.V1200A NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1200 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GCCAGGGCGGTCCCAGTCATC 0.582000 23 30 0 0 0.003330 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256408 15256408 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr10:15256408C>T ENST00000378116.4 - 8 1185 c.1179G>A c.(1177-1179)ctG>ctA p.L393L FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 393 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CTCCACTCATCAGTTCCTTCG 0.602000 12 33 0 0 0.001855 0 0 EPHA10 284656 broad.mit.edu 37 1 38227056 38227056 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:38227056G>A ENST00000319637.6 - 3 937 c.871C>T c.(871-873)Cgt>Tgt p.R291C EPHA10_ENST00000373048.4_Intron|EPHA10_ENST00000427468.2_Intron NM_173641.2 NP_775912.2 Q5JZY3 EPHAA_HUMAN EPH receptor A10 0 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCCACCCCACGGCCCCCAGCC 0.662000 32 85 0 0 0.005524 0 0 MGRN1 23295 broad.mit.edu 37 16 4723511 4723511 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:4723511G>A ENST00000399577.5 + 10 901 c.808G>A c.(808-810)Gag>Aag p.E270K MGRN1_ENST00000415496.1_Missense_Mutation_p.E271K|MGRN1_ENST00000588994.1_Missense_Mutation_p.E270K|MGRN1_ENST00000586183.1_Missense_Mutation_p.E270K|MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000262370.7_Missense_Mutation_p.E270K NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 270 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CTCGGACGACGAGAACAGCGA 0.657000 64 172 0 0 0.003610 0 0 GPR112 139378 broad.mit.edu 37 X 135430934 135430934 + Missense_Mutation SNP C C T rs141778568 byFrequency TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chrX:135430934C>T ENST00000394143.1 + 6 5360 c.5069C>T c.(5068-5070)tCc>tTc p.S1690F GPR112_ENST00000394141.1_Missense_Mutation_p.S1485F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1627F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1690F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1485F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1690 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S1690F(1) 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) GCTATTTCCTCCATTCCAAAG 0.448000 14 10 0 0 0.002450 0 0 NLRP7 199713 broad.mit.edu 37 19 55451188 55451188 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr19:55451188G>A ENST00000446217.1 - 6 1485 c.1083C>T c.(1081-1083)ttC>ttT p.F361F NLRP7_ENST00000328092.5_Silent_p.F333F|NLRP7_ENST00000448121.2_Silent_p.F333F|NLRP7_ENST00000592784.1_Silent_p.F333F|NLRP7_ENST00000340844.2_Silent_p.F333F|NLRP7_ENST00000590030.1_Silent_p.F333F|NLRP7_ENST00000588756.1_Silent_p.F333F Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 333 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGTGTCTCAGGAAATAGGCCC 0.647000 12 21 0 0 0.003163 0 0 RNASEL 6041 broad.mit.edu 37 1 182555534 182555534 + Silent SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:182555534A>G ENST00000367559.3 - 2 661 c.408T>C c.(406-408)ggT>ggC p.G136G RNASEL_ENST00000539397.1_Silent_p.G136G|RNASEL_ENST00000444138.1_Silent_p.G136G NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 136 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 CTTTGACCTTACCATACACAG 0.458000 27 33 0 0 0.001512 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420444 56420444 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:56420444C>T ENST00000407595.2 + 2 1611 c.1109C>T c.(1108-1110)cCt>cTt p.P370L RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 370 His-rich. breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GGAGGGAGCCCTGATCACAAA 0.637000 6 8 0 0 0.001168 0 0 ACVR1C 130399 broad.mit.edu 37 2 158443818 158443818 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:158443818G>A ENST00000243349.7 - 2 545 c.185C>T c.(184-186)tCc>tTc p.S62F ACVR1C_ENST00000409680.3_Missense_Mutation_p.S12F|ACVR1C_ENST00000348328.5_Missense_Mutation_p.S62F|ACVR1C_ENST00000335450.7_Missense_Mutation_p.S62F NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 62 apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 GGAGACACAGGATTTGATCAC 0.418000 50 68 0 0 0.003610 0 0 DSCAM 1826 broad.mit.edu 37 21 41559876 41559876 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr21:41559876G>A ENST00000400454.1 - 13 3069 c.2592C>T c.(2590-2592)tcC>tcT p.S864S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 864 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TAGCATGGCAGGAAAAGAAAC 0.388000 10 34 0 0 0.000978 0 0 OR6C68 403284 broad.mit.edu 37 12 55886345 55886345 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:55886345C>T ENST00000379662.1 + 1 199 c.199C>T c.(199-201)Caa>Taa p.Q67* RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000548615.1_Nonsense_Mutation_p.Q62*|RP11-110A12.2_ENST00000556750.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TTTTTTTCTCCAAAATTTATC 0.363000 17 79 0 0 0.006122 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110408291 110408291 + Nonsense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:110408291C>T ENST00000378402.5 + 11 951 c.847C>T c.(847-849)Cga>Tga p.R283* NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 283 IPT/TIG 3. 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) AGGAAGCATTCGAGGTGGCAC 0.388000 HNSCC(38;0.096) 3 7 0 0 0.000602 0 0 KCNB2 9312 broad.mit.edu 37 8 73480509 73480509 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr8:73480509G>A ENST00000523207.1 + 2 1128 c.540G>A c.(538-540)tgG>tgA p.W180* NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 180 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGAAACTGTGGGACTTGCTGG 0.458000 7 127 0 0 0.003080 0 0 C12orf50 160419 broad.mit.edu 37 12 88383123 88383123 + Silent SNP C C T rs146612959 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:88383123C>T ENST00000298699.2 - 8 798 c.618G>A c.(616-618)agG>agA p.R206R C12orf50_ENST00000550553.1_Silent_p.R206R NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 206 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 GAAATATGACCCTCTGTGGAA 0.343000 10 18 0 0 0.000443 0 0 TUBA1B 10376 broad.mit.edu 37 12 49521749 49521749 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr12:49521749C>T ENST00000336023.5 - 4 1442 c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 450 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 AATTAGTATTCCTCTCCTTCT 0.463000 54 54 0 0 0.003610 0 0 CCDC108 255101 broad.mit.edu 37 2 219888010 219888010 + Silent SNP G G A rs144661790 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:219888010G>A ENST00000341552.5 - 16 2822 c.2739C>T c.(2737-2739)ttC>ttT p.F913F CCDC108_ENST00000453220.1_Silent_p.F913F|CCDC108_ENST00000441968.1_Silent_p.F913F NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 913 MSP. integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCTCCACTCGAACTGCAGGG 0.627000 20 21 0 0 0.003330 0 0 HECW1 23072 broad.mit.edu 37 7 43547680 43547680 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:43547680G>A ENST00000395891.1 + 23 4421 c.3816G>A c.(3814-3816)cgG>cgA p.R1272R HECW1_ENST00000453890.1_Silent_p.R1238R NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1272 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCTATTCGCGGAAAGAGCTCC 0.542000 17 29 0 0 0.001523 0 0 KIFC1 3833 broad.mit.edu 37 6 33365810 33365810 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:33365810C>T ENST00000428849.2 + 2 467 c.17C>T c.(16-18)tCc>tTc p.S6F NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 6 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CAACAGAGGTCCCCCCTATTG 0.522000 36 57 0 0 0.001485 0 0 PTPRC 5788 broad.mit.edu 37 1 198685930 198685930 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:198685930G>A ENST00000367376.2 + 13 1576 c.1405G>A c.(1405-1407)Gga>Aga p.G469R PTPRC_ENST00000442510.2_Missense_Mutation_p.G471R|PTPRC_ENST00000594404.1_Missense_Mutation_p.G308R|PTPRC_ENST00000352140.3_Missense_Mutation_p.G421R|PTPRC_ENST00000348564.6_Missense_Mutation_p.G310R NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 469 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GCAACGTAATGGAAGTGCTGC 0.303000 17 70 0 0 0.001523 0 0 RPL5 6125 broad.mit.edu 37 1 93301759 93301759 + Frame_Shift_Del DEL T T - TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:93301759delT ENST00000370321.3 + 5 427 c.337delT c.(337-339)ttfs p.F113fs NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 113 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TCTCAATAGGTTTGGCATGGA 0.398 80 158 --- --- --- --- VCAM1 7412 broad.mit.edu 37 1 101198228 101198228 + Frame_Shift_Del DEL T T - TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr1:101198228delT ENST00000294728.2 + 7 1881 c.1780delT c.(1780-1782)tafs p.L594fs VCAM1_ENST00000370119.4_Frame_Shift_Del_p.L532fs|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.L502fs|VCAM1_ENST00000370115.1_Frame_Shift_Del_p.L395fs NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 594 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GGAAGTGGAATTAATTATCCA 0.343 17 34 --- --- --- --- TET3 200424 broad.mit.edu 37 2 74327570 74327570 + Frame_Shift_Del DEL A A - TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:74327570delA ENST00000409262.3 + 9 3250 c.3250delA c.(3250-3252)agfs p.K1084fs NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1084 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCCCTCCCTCAAGGTGGAGCC 0.612 2 4 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168103439 168103440 + Frame_Shift_Ins INS - - T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:168103439_168103440insT ENST00000409195.1 + 9 5626_5627 c.5537_5538insT c.(5536-5538)atcfs p.I1846fs XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.I1624fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.I1846fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1671 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCAACCCTAAATTCCCTCAGCC 0.381 7 19 --- --- --- --- PARD3B 117583 broad.mit.edu 37 2 205989120 205989130 + Frame_Shift_Del DEL TAAAAAACATT TAAAAAACATT - TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr2:205989120_205989130delTAAAAAACATT ENST00000406610.2 + 9 1442_1452 c.1235_1245delTAAAAAACATT c.(1234-1245)gfs p.VKNI412fs PARD3B_ENST00000358768.2_Frame_Shift_Del_p.VKNI412fs|PARD3B_ENST00000349953.3_Frame_Shift_Del_p.VKNI412fs|PARD3B_ENST00000351153.1_Frame_Shift_Del_p.VKNI412fs|PARD3B_ENST00000462231.1_Frame_Shift_Del_p.VKNI412fs 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 412 PDZ 2. 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) CCCATTTTTGTAAAAAACATTTTACCAAAGG 0.393 10 93 --- --- --- --- RRP9 9136 broad.mit.edu 37 3 51968772 51968772 + Frame_Shift_Del DEL A A - TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:51968772delA ENST00000232888.6 - 12 1128 c.1055delT c.(1054-1056)ccfs p.L352fs NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 352 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) CTTCTTGGAGAGACCCCACAA 0.592 23 59 --- --- --- --- DVL3 1857 broad.mit.edu 37 3 183883252 183883252 + Frame_Shift_Del DEL A A - TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr3:183883252delA ENST00000313143.3 + 7 984 c.736delA c.(736-738)acfs p.N246fs DVL3_ENST00000431765.1_Frame_Shift_Del_p.N246fs|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 246 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CATGTCACTCAACATCATCAC 0.542 18 38 --- --- --- --- MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31708367 31708369 + In_Frame_Del DEL GAG GAG - TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr6:31708367_31708369delGAG ENST00000493662.2 + 2 180_182 c.124_126delGAG c.(124-126)del p.E46del MSH5_ENST00000375750.3_In_Frame_Del_p.E46del|MSH5_ENST00000375755.3_In_Frame_Del_p.E46del|MSH5_ENST00000375703.3_In_Frame_Del_p.E46del|MSH5_ENST00000534153.4_In_Frame_Del_p.E46del|MSH5_ENST00000375740.3_In_Frame_Del_p.E46del|MSH5_ENST00000375742.3_In_Frame_Del_p.E46del|MSH5_ENST00000482280.1_3'UTR ggaggaagtcgaggaggaggagg 0.655 2 4 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97822735 97822736 + Frame_Shift_Ins INS - - T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr7:97822735_97822736insT ENST00000297293.5 + 11 3251_3252 c.2958_2959insT c.(2956-2961)cctcccfs p.P987fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 987 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TGTCAGCACCCTTCCCAGCCTC 0.564 56 136 --- --- --- --- SHB 6461 broad.mit.edu 37 9 38068598 38068599 + Frame_Shift_Ins INS - - T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr9:38068598_38068599insT ENST00000377707.3 - 1 609_610 c.44_45insA c.(43-45)aacfs p.N15fs RP11-613M10.9_ENST00000540557.1_Frame_Shift_Ins_p.N15fs|SHB_ENST00000377700.4_Frame_Shift_Ins_p.N15fs NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 15 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GGCTCTTGGTCTTGCTGTTGCC 0.738 8 17 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138376 20138376 + RNA DEL G G - rs57620493 TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr14:20138376delG ENST00000548261.1 + 0 391 ACAaaagaaagaaagaaagaa 0.388 3 4 --- --- --- --- KNOP1 400506 broad.mit.edu 37 16 19725706 19725706 + Frame_Shift_Del DEL T T - TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr16:19725706delT ENST00000219837.7 - 2 730 c.652delA c.(652-654)tcfs p.I218fs AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 p.I218fs*41(1) TCCTGGTGGATTTTTTTTTTC 0.532 10 108 --- --- --- --- MYO19 80179 broad.mit.edu 37 17 34864909 34864909 + Frame_Shift_Del DEL G G - TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:34864909delG ENST00000431794.3 - 14 1745 c.1223delC c.(1222-1224)atfs p.T408fs MYO19_ENST00000268852.9_Frame_Shift_Del_p.T408fs NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 408 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ACCTATGAAAGTGGTCCACGA 0.542 8 18 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67092380 67092381 + Splice_Site INS - - A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20f703f7-1db7-40b8-ad2d-e34275075314 2bdd457b-f872-4c5f-997d-1db7d15dfe68 g.chr17:67092380_67092381insA ENST00000284425.2 - 25 3582_3583 c.e25+1 ABCA6_ENST00000446604.2_Splice_Site NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TATATACTTACAAAAAAGAAGT 0.282 17 31 --- --- --- ---