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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut GCK 2645 broad.mit.edu 37 7 44192912 44192912 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:44192912G>A uc003tkl.2 - 1 666 c.196C>T c.(196-198)Cca>Tca p.P66S GCK_uc003tkj.1_Missense_Mutation_p.P65S|GCK_uc003tkk.1_Missense_Mutation_p.P67S NM_000162 NP_000153 P35557 HXK4_HUMAN Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. 66 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 GAGCCTTCTGGGGTGGAGCGC 0.617000 280 33 0 0 0.000953801 0 0 FAM83D 81610 broad.mit.edu 37 20 37580865 37580865 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:37580865T>C uc002xjg.3 + 3 1591 c.1550T>C c.(1549-1551)gTg>gCg p.V517A NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA. 487 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) CAAGGCTCTGTGGCAAGCTCC 0.517000 55 11 0 0 0.000673444 0 0 KSR2 283455 broad.mit.edu 37 12 118199021 118199021 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:118199021G>A uc001two.2 - 3 749 c.694C>T c.(694-696)Ccg>Tcg p.P232S NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 261 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity p.P293S(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGCGCGGCGGGGTGCGGACC 0.746000 102 13 0 0 0.000308642 0 0 HHIP 64399 broad.mit.edu 37 4 145573764 145573764 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:145573764C>T uc003ijs.2 + 1 967 c.287C>T c.(286-288)tCt>tTt p.S96F HHIP_uc003ijr.2_Missense_Mutation_p.S96F NM_022475 NP_071920 Q96QV1 HHIP_HUMAN Homo sapiens hedgehog interacting protein (HHIP), mRNA. 96 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding p.F95C(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CAGATATTTTCTGTTACCAAC 0.343000 92 58 0 0 0.000781405 0 0 KIAA1429 25962 broad.mit.edu 37 8 95504939 95504939 + Silent SNP G C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:95504939G>C uc003ygo.2 - 20 4820 c.4749C>G c.(4747-4749)acC>acG p.T1583T KIAA1429_uc010maz.2_Non-coding_Transcript NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 1583 RNA splicing|mRNA processing 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) TAGTAGTCTTGGTTCTTCCTG 0.368000 124 10 0 0 0.00136819 0 0 THSD7B 80731 broad.mit.edu 37 2 137814319 137814319 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:137814319G>A uc002tva.1 + 1 376 c.376G>A c.(376-378)Gaa>Aaa p.E126K THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E16K NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. 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) GGTTGCAAATGAAATATGCGA 0.522000 135 12 0 0 0.000978159 0 0 FSTL5 56884 broad.mit.edu 37 4 162697113 162697113 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:162697113G>A uc003iqh.3 - 4 959 c.523C>T c.(523-525)Cgg>Tgg p.R175W FSTL5_uc003iqi.3_Missense_Mutation_p.R174W|FSTL5_uc010iqv.3_Missense_Mutation_p.R174W NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 175 EF-hand 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AGCTTCTTCCGAGATATGTCG 0.303000 100 24 0 0 0.00106085 0 0 CNOT4 4850 broad.mit.edu 37 7 135047869 135047869 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:135047869G>A uc011kpy.2 - 11 2241 c.1910C>T c.(1909-1911)tCc>tTc p.S637F CNOT4_uc011kpz.2_Missense_Mutation_p.S634F|CNOT4_uc003vst.3_Missense_Mutation_p.S566F|CNOT4_uc003vss.3_Missense_Mutation_p.S563F NM_001190850 NP_001177779 O95628 CNOT4_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA. 309 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GGCCTGAAGGGATTTTAGCCA 0.522000 162 26 0 0 0.001512 0 0 C11orf45 219833 broad.mit.edu 37 11 128774431 128774431 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:128774431G>A uc001qeu.3 - 1 225 c.31C>T c.(31-33)Ctg>Ttg p.L11L KCNJ5_uc001qet.3_Intron|KCNJ5_uc009zck.3_Intron|C11orf45_uc009zcl.3_Silent_p.L11L|C11orf45_uc001qev.3_Silent_p.L11L NM_145013 NP_659450 Q8TAV5 CK045_HUMAN Homo sapiens chromosome 11 open reading frame 45 (C11orf45), transcript variant 2, mRNA. 11 extracellular region endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2) 7 all_hematologic(175;0.0641) Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195) Gtgctactcaggtgtgcactg 0.587000 56 6 0 0 0.00116845 0 0 KANK4 163782 broad.mit.edu 37 1 62740733 62740733 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:62740733C>T uc001dah.4 - 2 420 c.43G>A c.(43-45)Gaa>Aaa p.E15K KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 15 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 TCTTTCTCTTCATCCCCCTGA 0.438000 129 24 0 0 0.00127121 0 0 AFF2 2334 broad.mit.edu 37 X 148038127 148038127 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:148038127G>A uc004fcp.3 + 10 3031 c.2552G>A c.(2551-2553)gGc>gAc p.G851D AFF2_uc004fcq.3_Missense_Mutation_p.G841D|AFF2_uc004fcr.3_Missense_Mutation_p.G812D|AFF2_uc011mxb.2_Missense_Mutation_p.G816D|AFF2_uc004fcs.3_Missense_Mutation_p.G818D|AFF2_uc011mxc.2_Missense_Mutation_p.G492D NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 851 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GCCCCTAAGGGCAAACGTAAG 0.517000 30 11 0 0 0.00136819 0 0 CAST 831 broad.mit.edu 37 5 96065383 96065383 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:96065383C>T uc011cuo.1 + 6 476 c.392C>T c.(391-393)tCc>tTc p.S131F CAST_uc003klt.3_Missense_Mutation_p.S85F|CAST_uc021ybr.1_Missense_Mutation_p.S146F|CAST_uc003klx.3_Missense_Mutation_p.S127F|CAST_uc003klz.1_Missense_Mutation_p.S85F|CAST_uc011cup.2_Missense_Mutation_p.S63F|CAST_uc011cuq.2_Intron|CAST_uc021ybs.1_Missense_Mutation_p.S85F|CAST_uc021ybt.1_Missense_Mutation_p.S63F|CAST_uc011cut.2_Missense_Mutation_p.S63F|CAST_uc011cur.2_Missense_Mutation_p.S71F|CAST_uc011cus.2_Missense_Mutation_p.S85F|CAST_uc003kma.2_Missense_Mutation_p.S44F|CAST_uc003kmd.3_Missense_Mutation_p.S63F NM_173060 NP_775083 P20810 ICAL_HUMAN Homo sapiens calpastatin (CAST), transcript variant 2, mRNA. 85 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) AAAGCAGTTTCCAGATCAGCT 0.413000 67 10 0 0 0.00185496 0 0 AKAP6 9472 broad.mit.edu 37 14 33004824 33004824 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr14:33004824C>T uc001wrq.3 + 2 559 c.389C>T c.(388-390)tCc>tTc p.S130F AKAP6_uc010aml.3_Missense_Mutation_p.S127F NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 130 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ACAGAGTTCTCCCTAAAGCTG 0.478000 81 10 0 0 0.000442599 0 0 KLHL1 57626 broad.mit.edu 37 13 70275875 70275875 + Missense_Mutation SNP C A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:70275875C>A uc001vip.3 - 10 3000 c.2206G>T c.(2206-2208)Ggg>Tgg p.G736W KLHL1_uc010thm.2_Missense_Mutation_p.G675W NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA. 736 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CCTGCTCTCCCAATATTCAAG 0.303000 75 5 8.12818e-05 0.000293493 0.00198382 1 0 ABCC4 10257 broad.mit.edu 37 13 95858840 95858840 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:95858840G>A uc001vmd.4 - 7 1226 c.1107C>T c.(1105-1107)ttC>ttT p.F369F ABCC4_uc010afk.3_Silent_p.F369F|ABCC4_uc001vme.2_Silent_p.F369F|ABCC4_uc010tih.1_Silent_p.F294F|ABCC4_uc001vmf.2_Silent_p.F326F|ABCC4_uc010afl.1_Silent_p.F326F|ABCC4_uc010afm.1_Silent_p.F382F NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 369 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity p.F368F(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TGGCTGAGGGGAAGAAGAGGG 0.547000 77 7 0 0 0.00198382 0 0 OR10R2 343406 broad.mit.edu 37 1 158450492 158450492 + Silent SNP T G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:158450492T>G uc010pik.2 + 0 825 c.825T>G c.(823-825)gcT>gcG p.A275A AK057554_uc001fso.1_Non-coding_Transcript NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA. 275 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) ATGGCTGTGCTTCCTTCATCT 0.493000 77 6 0 0 0.00116845 0 0 CACNA1I 8911 broad.mit.edu 37 22 40075294 40075294 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:40075294G>A uc003ayc.3 + 31 5238 c.5238G>A c.(5236-5238)atG>atA p.M1746I CACNA1I_uc003ayd.3_Missense_Mutation_p.M1711I|CACNA1I_uc003aye.3_Missense_Mutation_p.M1661I|CACNA1I_uc003ayf.3_Missense_Mutation_p.M1626I NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1746 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) ACGCCGAGATGGATGCCGAGC 0.701000 6 6 0 0 0.00116845 0 0 WDFY3 23001 broad.mit.edu 37 4 85676507 85676507 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:85676507G>A uc003hpd.3 - 33 5879 c.5471C>T c.(5470-5472)tCc>tTc p.S1824F NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 1824 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGTTCCGCTGGAGGCAGGAAC 0.428000 75 31 0 0 0.0024448 0 0 STAG1 10274 broad.mit.edu 37 3 136323168 136323168 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:136323168C>T uc003era.1 - 3 572 c.280G>A c.(280-282)Ggg>Agg p.G94R STAG1_uc003erb.1_Missense_Mutation_p.G94R|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.3_Missense_Mutation_p.G94R NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN Homo sapiens stromal antigen 1 (STAG1), mRNA. 94 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 GCACTTTTCCCCAGTTTCACC 0.418000 141 13 0 0 0.000308642 0 0 THSD7B 80731 broad.mit.edu 37 2 138169379 138169379 + Nonsense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:138169379C>T uc002tva.1 + 12 2803 c.2803C>T c.(2803-2805)Cga>Tga p.R935* THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Nonsense_Mutation_p.R825* NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. 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) CCTGCGCTTTCGAGCAGTAGC 0.507000 68 8 0 0 0.000157383 0 0 DUSP27 92235 broad.mit.edu 37 1 167096187 167096187 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:167096187G>A uc001geb.1 + 4 1835 c.1819G>A c.(1819-1821)Gag>Aag p.E607K NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 607 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 GAACAAGGAGGAGGTGGTGGA 0.612000 34 4 0 0 0.000602214 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999051 112999051 + Nonsense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:112999051C>T uc001ebx.3 + 5 1165 c.937C>T c.(937-939)Caa>Taa p.Q313* CTTNBP2NL_uc001ebz.3_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA. 313 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTGTTTTGCCAAACAGAGAG 0.493000 145 18 0 0 0.000566183 0 0 TIAM2 26230 broad.mit.edu 37 6 155450804 155450804 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:155450804C>T uc003qqb.3 + 5 1720 c.447C>T c.(445-447)tcC>tcT p.S149S TIAM2_uc003qqe.3_Silent_p.S149S NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 149 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 Rho guanyl-nucleotide exchange factor activity|receptor signaling protein 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) GCATTGCCTCCACCCCACCGG 0.577000 26 10 0 0 0.00136819 0 0 CHRM2 1129 broad.mit.edu 37 7 136700128 136700128 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:136700128G>A uc003vtf.1 + 3 1139 c.516G>A c.(514-516)gaG>gaA p.E172E CHRM2_uc003vtg.1_Silent_p.E172E|CHRM2_uc003vti.1_Silent_p.E172E|CHRM2_uc003vtm.1_Silent_p.E172E|CHRM2_uc003vtj.1_Silent_p.E172E|CHRM2_uc003vtk.1_Silent_p.E172E|CHRM2_uc003vtl.1_Silent_p.E172E|CHRM2_uc003vtn.1_Silent_p.E172E|CHRM2_uc003vto.1_Silent_p.E172E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.E172E NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 172 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.V171M(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GAACTGTGGAGGATGGGGAGT 0.493000 133 15 0 0 0.000566183 0 0 DOCK9 23348 broad.mit.edu 37 13 99489772 99489772 + Silent SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:99489772A>G uc001vnt.2 - 38 4279 c.4224T>C c.(4222-4224)ctT>ctC p.L1408L DOCK9_uc001vnw.2_Silent_p.L1407L|DOCK9_uc021rlw.1_Silent_p.L1407L|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.L1408L|DOCK9_uc001vnq.2_5'UTR|DOCK9_uc001vnr.2_Silent_p.L51L|DOCK9_uc010tin.1_Silent_p.L51L|DOCK9_uc001vns.2_5'UTR|DOCK9_uc010tio.1_Silent_p.L100L|DOCK9_uc010tip.1_Silent_p.L118L|DOCK9_uc001vnu.1_5'UTR|DOCK9_uc010tiq.1_Silent_p.L386L NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA. 1408 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TAAATAGAGAAAGCGTGTCCA 0.448000 37 8 0 0 0.000673444 0 0 RBM12 10137 broad.mit.edu 37 20 34242834 34242834 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:34242834G>A uc021wcr.1 - 0 411 c.411C>T c.(409-411)acC>acT p.T137T CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Silent_p.T137T|RBM12_uc002xds.3_Silent_p.T137T|RBM12_uc002xdr.3_Silent_p.T137T|RBM12_uc021wcq.1_Silent_p.T137T NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 137 nucleus RNA binding|nucleotide binding|protein binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GAACAGAAGTGGTGGCAGTAA 0.473000 OREG0004046 type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 119 21 0 0 0.000720815 0 0 KIAA1109 84162 broad.mit.edu 37 4 123192355 123192355 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:123192355C>T uc003ieh.3 + 44 7721 c.7676C>T c.(7675-7677)tCc>tTc p.S2559F KIAA1109_uc003iel.1_Missense_Mutation_p.S494F|KIAA1109_uc003iek.2_Missense_Mutation_p.S1178F NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 2559 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.S2559F(2) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TTTACTATTTCCTGTCAGTCA 0.408000 275 44 0 0 0.000781405 0 0 KLC2 64837 broad.mit.edu 37 11 66031131 66031131 + Splice_Site SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:66031131G>A uc010rov.1 + 6 996 c.753_splice c.e6-1 p.R251_splice KLC2_uc010row.1_Splice_Site_p.R251_splice|KLC2_uc001ohb.2_Splice_Site_p.R251_splice|KLC2_uc010rox.1_Splice_Site_p.R174_splice|KLC2_uc001ohc.2_Splice_Site_p.R251_splice|KLC2_uc001ohd.2_Splice_Site_p.R174_splice|KLC2_uc001ohe.1_Splice_Site_p.R112_splice NM_001134775 NP_073733 Q9H0B6 KLC2_HUMAN Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA. 251 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 CTGCTCCCAGGGATCAGAACA 0.582000 33 7 0 0 0.000157383 0 0 ATP10A 57194 broad.mit.edu 37 15 25936910 25936910 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:25936910G>A uc010ayu.3 - 14 3223 c.3117C>T c.(3115-3117)atC>atT p.I1039I NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 1039 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CTGCCACCTGGATCATGCTGA 0.468000 208 52 0 0 0.000781405 0 0 PAGE2B 389860 broad.mit.edu 37 X 55103076 55103076 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:55103076G>A uc004due.3 + 2 211 c.159G>A c.(157-159)ggG>ggA p.G53G PAGE2B_uc022bxk.1_Silent_p.G53G NM_001015038 NP_001015038 Q5JRK9 GGEE3_HUMAN Homo sapiens P antigen family, member 2B (PAGE2B), mRNA. 53 lung(3) 3 CACCTAGTGGGGAGATCGAAA 0.458000 19 8 0 0 0.000274275 0 0 SLC22A15 55356 broad.mit.edu 37 1 116574189 116574189 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:116574189C>T uc001egb.4 + 5 1061 c.931C>T c.(931-933)Ctg>Ttg p.L311L SLC22A15_uc001ega.2_3'UTR NM_018420 NP_060890 Q8IZD6 S22AF_HUMAN Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA. 311 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CACTTTGATCCTGATGTTCAT 0.478000 116 7 0 0 0.00198382 0 0 COL4A1 1282 broad.mit.edu 37 13 110819513 110819513 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:110819513C>T uc001vqw.4 - 43 4063 c.3941G>A c.(3940-3942)gGa>gAa p.G1314E NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1314 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) ACCTTGAAATCCTGGAACTCC 0.537000 247 19 0 0 0.00152264 0 0 IQGAP2 10788 broad.mit.edu 37 5 75871584 75871584 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:75871584C>T uc003kek.3 + 4 670 c.448C>T c.(448-450)Cac>Tac p.H150Y NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 150 CH. small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding p.I149I(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ATATTGCATTCACGCACTGAG 0.289000 63 9 0 0 0.000978159 0 0 C3orf25 90288 broad.mit.edu 37 3 129130159 129130159 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:129130159G>A uc003emg.3 - 4 1040 c.877C>T c.(877-879)Ccg>Tcg p.P293S NM_207307 NP_997190 Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2) 23 TTCTTGAGCGGACCCTTCAGG 0.572000 64 11 0 0 0.00185496 0 0 CASR 846 broad.mit.edu 37 3 121976000 121976000 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:121976000C>T uc003eew.4 + 2 696 c.258C>T c.(256-258)gcC>gcT p.A86A CASR_uc003eev.4_Silent_p.A86A NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 86 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) GCAGCCCAGCCCTTCTTCCCA 0.443000 88 12 0 0 0.000978159 0 0 SLC6A14 11254 broad.mit.edu 37 X 115586625 115586625 + Missense_Mutation SNP T A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:115586625T>A uc004eqi.3 + 11 1738 c.1607T>A c.(1606-1608)cTt>cAt p.L536H NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 536 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) ACGCCTATCCTTTTGATTGTA 0.338000 42 24 0 0 0.000720815 0 0 HEMK1 51409 broad.mit.edu 37 3 50615280 50615280 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:50615280G>A uc003dau.3 + 6 934 c.638G>A c.(637-639)tGg>tAg p.W213* HEMK1_uc003dav.3_Nonsense_Mutation_p.W213* NM_016173 NP_057257 Q9Y5R4 HEMK1_HUMAN Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA. 213 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) GACAGGATTTGGATCATCCAC 0.557000 95 6 0 0 0.00198382 0 0 ZNF638 27332 broad.mit.edu 37 2 71576199 71576199 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:71576199C>T uc002shx.3 + 1 438 c.115C>T c.(115-117)Ctc>Ttc p.L39F ZNF638_uc010fec.2_Missense_Mutation_p.L145F|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.L39F|ZNF638_uc002shz.3_Missense_Mutation_p.L39F|ZNF638_uc002shy.3_Missense_Mutation_p.L39F|ZNF638_uc002sia.3_Missense_Mutation_p.L39F|ZNF638_uc002sib.1_Missense_Mutation_p.L39F NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 39 RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 ATCTATGGGTCTCCCAAGATT 0.498000 100 12 0 0 0.000978159 0 0 GALNT14 79623 broad.mit.edu 37 2 31135139 31135139 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:31135139G>A uc002rns.3 - 14 2105 c.1465C>T c.(1465-1467)Cct>Tct p.P489S GALNT14_uc002rnq.3_Missense_Mutation_p.P464S|GALNT14_uc010ymr.2_Missense_Mutation_p.P449S|GALNT14_uc002rnr.3_Missense_Mutation_p.P484S NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 484 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GGGGCGCCAGGGAACAAGGTG 0.552000 71 19 0 0 0.00074312 0 0 GRIA1 2890 broad.mit.edu 37 5 153029900 153029900 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:153029900C>T uc011dcy.2 + 3 528 c.501C>T c.(499-501)gtC>gtT p.V167V GRIA1_uc003lva.4_Silent_p.V157V|GRIA1_uc003luy.4_Silent_p.V157V|GRIA1_uc003luz.4_Silent_p.V62V|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.V77V|GRIA1_uc011dcx.2_Silent_p.V88V|GRIA1_uc011dcz.2_Silent_p.V167V|GRIA1_uc010jia.1_Silent_p.V137V NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 157 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 PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.E167Q(1) 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) GCTTATCCGTCCTGCAGAAAG 0.512000 49 11 0 0 0.00185496 0 0 KIAA0408 9729 broad.mit.edu 37 6 127765361 127765361 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:127765361G>A uc011ebs.2 - 5 2314 c.1978C>T c.(1978-1980)Cgt>Tgt p.R660C KIAA0408_uc003qbc.3_Missense_Mutation_p.R660C|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Missense_Mutation_p.R71C|KIAA0408_uc003qbb.3_Missense_Mutation_p.R543C NM_014702 NP_055517 Q6ZU52 K0408_HUMAN Homo sapiens KIAA0408 (KIAA0408), mRNA. 660 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) GAGGGGAGACGACGATTTGCT 0.502000 37 20 0 0 0.00047179 0 0 COL4A1 1282 broad.mit.edu 37 13 110828850 110828850 + Silent SNP A C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:110828850A>C uc001vqw.4 - 35 3101 c.2979T>G c.(2977-2979)ggT>ggG p.G993G NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 993 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TACCTGGATCACCTTTAGGTC 0.512000 46 6 0 0 0.00198382 0 0 C3orf30 152405 broad.mit.edu 37 3 118865127 118865127 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:118865127G>A uc003ecb.1 + 0 131 c.91G>A c.(91-93)Gaa>Aaa p.E31K IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.E31K NM_152539 NP_689752 Q96M34 CC030_HUMAN Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA. 31 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) TAAGGGCCAGGAAGAAGACGA 0.567000 26 6 0 0 0.00116845 0 0 CALN1 83698 broad.mit.edu 37 7 71488740 71488740 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:71488740C>T uc003twb.4 - 4 794 c.403G>A c.(403-405)Gat>Aat p.D135N CALN1_uc003twa.4_Missense_Mutation_p.D93N|CALN1_uc003twc.4_Missense_Mutation_p.D93N NM_031468 NP_001017440 Q9BXU9 CABP8_HUMAN Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA. 93 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.E135K(1) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TCATCAAAATCCACCTGGCCA 0.458000 101 19 0 0 0.00074312 0 0 GPR98 84059 broad.mit.edu 37 5 89940674 89940674 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:89940674C>T uc003kju.3 + 14 2982 c.2886C>T c.(2884-2886)tcC>tcT p.S962S GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 962 Calx-beta 7. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding 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) CCATTTACTCCCTTCCAGATG 0.313000 67 5 0 0 0.000602214 0 0 CEP170 9859 broad.mit.edu 37 1 243364124 243364124 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:243364124G>A uc021plo.1 - 4 696 c.288C>T c.(286-288)ttC>ttT p.F96F CEP170_uc021plp.1_Silent_p.F96F|CEP170_uc021plq.1_Silent_p.F96F NM_014812 NP_055627 Q5SW79 CE170_HUMAN Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA. 96 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GTACTACAGTGAAAAGATTTG 0.323000 42 10 0 0 0.000308642 0 0 RSPO2 340419 broad.mit.edu 37 8 108913384 108913384 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:108913384G>A uc003yms.3 - 5 1309 c.651C>T c.(649-651)aaC>aaT p.N217N RSPO2_uc003ymq.3_Silent_p.N150N|RSPO2_uc003ymr.3_Silent_p.N153N NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN Homo sapiens R-spondin 2 (RSPO2), mRNA. 217 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) tctttttcttgttcctcttct 0.428000 45 15 0 0 0.00244969 0 0 PLCH2 9651 broad.mit.edu 37 1 2418770 2418770 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:2418770G>A uc001aji.1 + 6 1340 c.1066G>A c.(1066-1068)Gac>Aac p.D356N PLCH2_uc010nyz.2_Missense_Mutation_p.D145N|PLCH2_uc009vle.1_Missense_Mutation_p.D145N|PLCH2_uc001ajj.1_Missense_Mutation_p.D145N|PLCH2_uc001ajk.1_Missense_Mutation_p.D145N NM_014638 NP_055453 O75038 PLCH2_HUMAN Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA. 357 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GTCACGGGTGGACATGTATGC 0.627000 22 5 0 0 0.000274275 0 0 KCNH5 27133 broad.mit.edu 37 14 63246485 63246485 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr14:63246485G>A uc001xfx.3 - 9 2031 c.1980C>T c.(1978-1980)ttC>ttT p.F660F KCNH5_uc001xfy.3_Intron|KCNH5_uc001xfz.1_Silent_p.F602F NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 660 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) GATTCCTTGAGAAGGAGTTTG 0.443000 101 11 0 0 0.00136819 0 0 CACNA1E 777 broad.mit.edu 37 1 181726163 181726163 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:181726163C>T uc009wxt.3 + 29 4425 c.4230C>T c.(4228-4230)ttC>ttT p.F1410F CACNA1E_uc001gow.3_Silent_p.F1410F|CACNA1E_uc009wxs.3_Silent_p.F1391F|CACNA1E_uc001gox.1_Silent_p.F636F NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1410 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 TTGTGGTCTTCCCCTTCTTCT 0.488000 86 23 0 0 0.00188189 0 0 SLC39A6 25800 broad.mit.edu 37 18 33706343 33706343 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr18:33706343G>A uc010dmy.3 - 1 918 c.628C>T c.(628-630)Cct>Tct p.P210S SLC39A6_uc002kzj.2_Intron NM_012319 NP_001092876 Q13433 S39A6_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 6 (SLC39A6), transcript variant 1, mRNA. 210 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 AGTTTTCCAGGTCTTGGAGTC 0.478000 143 18 0 0 0.000566183 0 0 NCOA2 10499 broad.mit.edu 37 8 71036964 71036964 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:71036964G>A uc003xyn.1 - 19 4215 c.4053C>T c.(4051-4053)tcC>tcT p.S1351S NCOA2_uc011lfb.1_Silent_p.S439S NM_006540 NP_006531 Q15596 NCOA2_HUMAN Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA. 1351 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CATTTATGTCGGAGGGGGCCT 0.562000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 60 13 0 0 0.00185496 0 0 ANK3 288 broad.mit.edu 37 10 61894132 61894132 + Splice_Site SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:61894132C>T uc001jky.3 - 25 3077 c.2739_splice c.e25-1 p.S913_splice ANK3_uc001jkw.3_Splice_Site_p.S47_splice|ANK3_uc009xpa.3_Splice_Site_p.S47_splice|ANK3_uc001jkx.3_Splice_Site_p.S91_splice|ANK3_uc010qih.2_Splice_Site_p.S914_splice|ANK3_uc001jkz.4_Splice_Site_p.S907_splice|ANK3_uc001jla.1_5'Flank|ANK3_uc001jlb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 913 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGAGCGGAGGCTGTTGTATTT 0.408000 19 13 0 0 0.00136819 0 0 SHROOM2 357 broad.mit.edu 37 X 9864373 9864373 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:9864373C>T uc004csu.1 + 3 2515 c.2425C>T c.(2425-2427)Ccc>Tcc p.P809S NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 809 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CAAACCTGTTCCCCAGAGGCC 0.602000 25 15 0 0 0.000566183 0 0 CMYA5 202333 broad.mit.edu 37 5 79028492 79028492 + Nonsense_Mutation SNP G T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:79028492G>T uc003kgc.3 + 1 3976 c.3904G>T c.(3904-3906)Gag>Tag p.E1302* NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 1302 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGTGAAAATGGAGATGAAACA 0.403000 28 6 5.9392e-07 2.15254e-06 0.00116845 1 0 PCDH18 54510 broad.mit.edu 37 4 138451129 138451129 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:138451129G>A uc003ihe.4 - 0 2501 c.2114C>T c.(2113-2115)tCc>tTc p.S705F PCDH18_uc003ihf.4_Missense_Mutation_p.S698F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.S485F|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 705 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S705F(2) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGCTCCTAAGGAAATAATTAT 0.423000 179 30 0 0 0.00127121 0 0 ZFPM2 23414 broad.mit.edu 37 8 106811101 106811101 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:106811101C>T uc003ymd.3 + 6 912 c.889C>T c.(889-891)Ctg>Ttg p.L297L ZFPM2_uc011lhs.2_Silent_p.L28L NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 297 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.S296R(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GATTTCCAGCCTGTGCCCCTT 0.493000 131 20 0 0 0.00229938 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110503254 110503254 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:110503254C>T uc003yne.3 + 60 10142 c.10038C>T c.(10036-10038)ttC>ttT p.F3346F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3346 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) ACCATGGCTTCTCTCCAGCAA 0.353000 HNSCC(38;0.096) 93 12 0 0 0.000978159 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586637 15586637 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:15586637G>A uc002nbg.3 - 1 977 c.844C>T c.(844-846)Ctt>Ttt p.L282F PGLYRP2_uc002nbf.4_Missense_Mutation_p.L282F NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA. 282 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 TAGTCTCCAAGGATGACCCCA 0.622000 51 7 0 0 0.000274275 0 0 ATP9B 374868 broad.mit.edu 37 18 77063667 77063667 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr18:77063667C>T uc002lmx.3 + 13 1489 c.1475C>T c.(1474-1476)gCc>gTc p.A492V ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.A492V|ATP9B_uc002lmz.1_Missense_Mutation_p.A186V NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 492 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) TCCTATGGCGCCGACACGATG 0.542000 70 11 0 0 0.00244969 0 0 BPTF 2186 broad.mit.edu 37 17 65899939 65899939 + Missense_Mutation SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:65899939A>G uc002jgf.3 + 7 2639 c.2578A>G c.(2578-2580)Aag>Gag p.K860E BPTF_uc002jge.3_Missense_Mutation_p.K986E|BPTF_uc010wqm.1_Missense_Mutation_p.K923E NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 986 Interaction with MAZ. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm 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) aagagaagaaaaggagaaagt 0.333000 37 10 0 0 0.000442599 0 0 MAGI1 9223 broad.mit.edu 37 3 65367727 65367727 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:65367727G>A uc003dmn.3 - 15 3052 c.2526C>T c.(2524-2526)atC>atT p.I842I MAGI1_uc003dmm.3_Silent_p.I870I|MAGI1_uc003dmo.3_Silent_p.I870I|MAGI1_uc003dmp.3_Silent_p.I842I|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Silent_p.I153I NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 870 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CCAGTGGTACGATGTGACCAA 0.443000 77 11 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179560875 179560875 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:179560875C>T uc021vsy.1 - 110 27417 c.27192G>A c.(27190-27192)aaG>aaA p.K9064K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K5725K|TTN_uc010fre.1_Silent_p.K175K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9991 Ig-like 73. 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) CTCTCTTCTCCTTGTGGACTG 0.378000 8 4 0 0 0.00024832 0 0 MAST4 375449 broad.mit.edu 37 5 66084622 66084622 + Splice_Site SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:66084622G>A uc021xzk.1 + 3 950 c.642_splice c.e3+1 p.L214_splice MAST4_uc010iwz.3_Splice_Site_p.L214_splice|MAST4_uc003jur.4_Splice_Site_p.L214_splice NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 214 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CCGCCAGCCTGGTGAGTGTCC 0.612000 18 6 0 0 0.00198382 0 0 KRT15 3866 broad.mit.edu 37 17 39671762 39671762 + Silent SNP G A A rs142117852 byFrequency TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:39671762G>A uc002hwy.3 - 5 1400 c.1209C>T c.(1207-1209)atC>atT p.I403I KRT15_uc002hwz.3_Silent_p.I305I|KRT15_uc002hxa.3_Silent_p.I238I|KRT15_uc002hxb.1_Silent_p.I238I NM_002275 NP_002266 P19012 K1C15_HUMAN Homo sapiens keratin 15 (KRT15), mRNA. 403 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) GGTAAGTAGCGATCTCCTGCT 0.607000 81 7 0 0 0.000274275 0 0 PKD2L1 9033 broad.mit.edu 37 10 102056771 102056771 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:102056771C>T uc001kqx.1 - 5 1534 c.1151G>A c.(1150-1152)aGc>aAc p.S384N PKD2L1_uc009xwm.1_Missense_Mutation_p.S337N NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 384 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) GTTCCAGATGCTGCTGAGGTA 0.517000 44 9 0 0 0.000673444 0 0 TRPM3 80036 broad.mit.edu 37 9 73255515 73255515 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:73255515G>A uc004aid.3 - 9 1651 c.1407C>T c.(1405-1407)atC>atT p.I469I TRPM3_uc004ahu.3_Silent_p.I299I|TRPM3_uc004ahv.3_Silent_p.I299I|TRPM3_uc004ahw.3_Silent_p.I341I|TRPM3_uc004ahx.3_Silent_p.I316I|TRPM3_uc004ahy.3_Silent_p.I341I|TRPM3_uc004ahz.3_Silent_p.I316I|TRPM3_uc004aia.3_Silent_p.I316I|TRPM3_uc004aib.3_Silent_p.I316I|TRPM3_uc004aic.3_Silent_p.I469I|TRPM3_uc010mor.3_Silent_p.I469I NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 494 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GGCTGCGAGCGATGTCGACTC 0.502000 OREG0019249 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 5 0 0 0.00116845 0 0 DENND1B 163486 broad.mit.edu 37 1 197479747 197479747 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:197479747G>A uc021pgu.1 - 22 2509 c.2171C>T c.(2170-2172)tCg>tTg p.S724L DENND1B_uc010ppf.2_Non-coding_Transcript NM_001195215 NP_001182144 Q6P3S1 DEN1B_HUMAN Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA. 0 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 AACAAAAGTCGATGAATGCCG 0.423000 96 22 0 0 0.00047179 0 0 CMYA5 202333 broad.mit.edu 37 5 79031243 79031243 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:79031243C>T uc003kgc.3 + 1 6727 c.6655C>T c.(6655-6657)Cct>Tct p.P2219S NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 2219 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGTGATAGATCCTGAAGGTAC 0.403000 186 39 0 0 0.0025221 0 0 NAALAD2 10003 broad.mit.edu 37 11 89907060 89907060 + Silent SNP A C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:89907060A>C uc001pdf.4 + 13 1588 c.1479A>C c.(1477-1479)tcA>tcC p.S493S NAALAD2_uc009yvx.3_Silent_p.S460S|NAALAD2_uc009yvy.3_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 493 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AAGACCCTTCACCTGAAAATA 0.398000 154 25 0 0 0.00106085 0 0 DNAJB2 3300 broad.mit.edu 37 2 220146740 220146740 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:220146740C>T uc002vkx.1 + 4 546 c.309C>T c.(307-309)ttC>ttT p.F103F DNAJB2_uc010zla.1_Silent_p.F103F|DNAJB2_uc002vkw.1_Silent_p.F103F|DNAJB2_uc010zlb.1_5'Flank NM_006736 NP_006727 P25686 DNJB2_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA. 103 ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGAGGTCTTCCGGGAATTCT 0.592000 54 16 0 0 0.000566183 0 0 LEPR 3953 broad.mit.edu 37 1 66101934 66101934 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:66101934C>T uc001dci.3 + 19 3123 c.2734C>T c.(2734-2736)Ctt>Ttt p.L912F LEPR_uc009waq.3_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 912 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) TGGTCCTCTTCTTTTGGAGCC 0.358000 221 42 0 0 0.000781405 0 0 GTSF1 121355 broad.mit.edu 37 12 54858877 54858877 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:54858877G>A uc001sgb.3 - 2 177 c.91C>T c.(91-93)Cct>Tct p.P31S NM_144594 NP_653195 Q8WW33 GTSF1_HUMAN Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA. 31 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) AGATGATAAGGAAACCTGCAA 0.408000 146 12 0 0 0.00244969 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796513 62796513 + Missense_Mutation SNP T A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:62796513T>A uc002jew.4 - 5 1438 c.527A>T c.(526-528)tAt>tTt p.Y176F PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Missense_Mutation_p.Y176F Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA. AGAAAATATATAGGGCATCCA 0.542000 62 9 0 0 0.000673444 0 0 GABRG1 2565 broad.mit.edu 37 4 46066470 46066470 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:46066470C>T uc003gxb.3 - 4 765 c.613G>A c.(613-615)Gaa>Aaa p.E205K NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 205 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CTTGAAAATTCCAGTGGACAG 0.274000 144 44 0 0 0.000781405 0 0 SYT10 341359 broad.mit.edu 37 12 33579199 33579199 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:33579199T>C uc001rll.1 - 1 680 c.383A>G c.(382-384)gAg>gGg p.E128G SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 128 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) TATTGCAGGCTCAATAGCTTT 0.393000 158 14 0 0 0.000566183 0 0 USP29 57663 broad.mit.edu 37 19 57641091 57641091 + Missense_Mutation SNP T A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:57641091T>A uc002qny.3 + 3 1404 c.1048T>A c.(1048-1050)Tta>Ata p.L350I USP29_uc021vci.1_Missense_Mutation_p.L350I NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 350 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) CAAGAGAGAATTACTTGGGAA 0.383000 91 15 0 0 0.000308642 0 0 ZNF514 84874 broad.mit.edu 37 2 95815412 95815412 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:95815412G>A uc002sud.1 - 4 1408 c.1037C>T c.(1036-1038)tCg>tTg p.S346L ZNF514_uc002sue.1_Missense_Mutation_p.S273L NM_032788 NP_116177 Q96K75 ZN514_HUMAN Homo sapiens zinc finger protein 514 (ZNF514), mRNA. 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 AACAAGAGACGAACTCTGGCT 0.418000 70 18 0 0 0.000566183 0 0 SLC17A8 246213 broad.mit.edu 37 12 100774643 100774643 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:100774643C>T uc010svi.2 + 1 579 c.266C>T c.(265-267)tCc>tTc p.S89F SLC17A8_uc009ztx.3_Missense_Mutation_p.S89F NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 89 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity p.I88N(1)|p.S89T(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TTCTGCATTTCCTTTGGGATC 0.517000 148 10 0 0 0.000673444 0 0 NKAPL 222698 broad.mit.edu 37 6 28227782 28227782 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:28227782C>T uc003nkt.3 + 0 685 c.633C>T c.(631-633)gaC>gaT p.D211D ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN Homo sapiens NFKB activating protein-like (NKAPL), mRNA. 211 Lys-rich. breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 CAGAGTCTGACACAAATTCTG 0.313000 95 10 0 0 0.000673444 0 0 GRIP2 80852 broad.mit.edu 37 3 14561972 14561972 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:14561972G>A uc021wtn.1 - 8 1076 c.1076C>T c.(1075-1077)tCg>tTg p.S359L NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA. 262 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GGTGGTGAGCGAGATCCCCAG 0.567000 28 9 0 0 0.000673444 0 0 ZNF510 22869 broad.mit.edu 37 9 99522716 99522716 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:99522716G>A uc004awn.1 - 5 585 c.396C>T c.(394-396)atC>atT p.I132I ZNF510_uc004awo.1_Silent_p.I132I NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN Homo sapiens zinc finger protein 510 (ZNF510), mRNA. 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) GTTTGTCTTTGATTTTCTTGT 0.358000 122 23 0 0 0.000586117 0 0 PPIL1 51645 broad.mit.edu 37 6 36823601 36823601 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:36823601G>A uc003omu.2 - 3 741 c.489C>T c.(487-489)taC>taT p.Y163Y NM_016059 NP_057143 Q9Y3C6 PPIL1_HUMAN Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 1 (PPIL1), mRNA. 163 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity lung(1)|ovary(1) 2 ACCCAGAAGGGTATGCCTTAA 0.498000 85 21 0 0 0.000720815 0 0 LRP1B 53353 broad.mit.edu 37 2 141272283 141272283 + Silent SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:141272283A>G uc002tvj.1 - 50 9180 c.8208T>C c.(8206-8208)caT>caC p.H2736H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2736 LDL-receptor class A 16. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACAAATCCAATGCTTAGAAA 0.368000 TSP Lung(27;0.18) 59 7 0 0 0.00198382 0 0 TNFRSF8 943 broad.mit.edu 37 1 12144568 12144568 + Nonsense_Mutation SNP T G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:12144568T>G uc001atq.3 + 1 333 c.111T>G c.(109-111)taT>taG p.Y37* TNFRSF8_uc010obc.2_Intron NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 37 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|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) GCCACTACTATGACAAGGCTG 0.572000 84 20 0 0 0.00229938 0 0 PAG1 55824 broad.mit.edu 37 8 81897606 81897606 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:81897606G>A uc003ybz.3 - 6 992 c.281C>T c.(280-282)tCa>tTa p.S94L NM_018440 NP_060910 Q9NWQ8 PAG1_HUMAN Homo sapiens phosphoprotein associated with glycosphingolipid microdomains 1 (PAG1), mRNA. 94 T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|intracellular signal transduction integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) ACTGTCCTCTGAAAGAACTAA 0.428000 27 6 0 0 0.00198382 0 0 CCDC88C 440193 broad.mit.edu 37 14 91760534 91760534 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr14:91760534C>T uc010aty.3 - 22 4249 c.4095G>A c.(4093-4095)gaG>gaA p.E1365E NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1365 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GCTTCTGCTCCTCATGGTACT 0.547000 173 12 0 0 0.00244969 0 0 KCNH1 3756 broad.mit.edu 37 1 211192452 211192452 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:211192452G>A uc001hib.2 - 5 875 c.705C>T c.(703-705)gtC>gtT p.V235V KCNH1_uc001hic.2_Silent_p.V235V NM_172362 NP_758872 O95259 KCNH1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA. 235 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CATTATAAGGGACCAAGATGG 0.423000 77 12 0 0 0.00136819 0 0 MUSK 4593 broad.mit.edu 37 9 113449458 113449458 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:113449458G>A uc022blv.1 + 2 402 c.268G>A c.(268-270)Gaa>Aaa p.E90K MUSK_uc022blt.1_Missense_Mutation_p.E90K|MUSK_uc004bez.2_Missense_Mutation_p.E90K|MUSK_uc022blu.1_Missense_Mutation_p.E90K NM_005592 NP_005583 O15146 MUSK_HUMAN Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA. 90 Ig-like 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CCTGAGTGTGGAAGACAGTGA 0.522000 122 17 0 0 0.00074312 0 0 DMC1 11144 broad.mit.edu 37 22 38948707 38948707 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:38948707G>A uc003avz.1 - 6 560 c.385C>T c.(385-387)Cgt>Tgt p.R129C DMC1_uc011anv.1_Missense_Mutation_p.R129C|DMC1_uc003awa.1_Missense_Mutation_p.R129C NM_007068 NP_008999 Q14565 DMC1_HUMAN Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA. 129 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) TTTCCAGTACGAAATTCTGTG 0.274000 Homologous recombination 128 17 0 0 0.00074312 0 0 OR5D13 390142 broad.mit.edu 37 11 55541585 55541585 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:55541585C>T uc010ril.2 + 0 672 c.672C>T c.(670-672)ttC>ttT p.F224F NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGCTTATTTTCACTACCATTA 0.438000 70 19 0 0 0.000958276 0 0 LECT1 11061 broad.mit.edu 37 13 53282744 53282744 + Missense_Mutation SNP C G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:53282744C>G uc001vhf.2 - 5 827 c.716G>C c.(715-717)gGa>gCa p.G239A LECT1_uc001vhg.2_Missense_Mutation_p.G239A|LECT1_uc001vhh.2_Missense_Mutation_p.G228A NM_007015 NP_008946 O75829 LECT1_HUMAN Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA. 239 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) ATTCAGTCTTCCAGCGCCTGG 0.448000 74 15 0 0 0.000422831 0 0 WDR54 84058 broad.mit.edu 37 2 74650042 74650042 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:74650042T>C uc002slb.3 + 2 328 c.268T>C c.(268-270)Tca>Cca p.S90P NM_032118 NP_115494 Q9H977 WDR54_HUMAN Homo sapiens WD repeat domain 54 (WDR54), mRNA. 90 breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 GGTACTCACCTCACATCGAGG 0.547000 53 6 0 0 0.00198382 0 0 OR1K1 392392 broad.mit.edu 37 9 125563091 125563091 + Silent SNP C A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:125563091C>A uc011lze.2 + 0 690 c.690C>A c.(688-690)ccC>ccA p.P230P NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P230P(2) endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 TCCAGCTGCCCTCAGCCTCTG 0.637000 55 5 0.000602214 0.00217043 0.000602214 1 0 ZCCHC12 170261 broad.mit.edu 37 X 117960056 117960056 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:117960056G>A uc004equ.3 + 3 1322 c.849G>A c.(847-849)caG>caA p.Q283Q ZCCHC12_uc022cdh.1_Silent_p.Q283Q NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA. 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 TGGAGTCTCAGGACCCTCCAC 0.572000 33 20 0 0 0.00229938 0 0 PCK1 5105 broad.mit.edu 37 20 56140627 56140627 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:56140627G>A uc002xyn.4 + 9 1799 c.1636G>A c.(1636-1638)Gga>Aga p.G546R PCK1_uc010zzm.2_Missense_Mutation_p.G229R NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 546 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCGGATCGATGGAAAAGCCAG 0.547000 56 6 0 0 0.00116845 0 0 SGMS1 259230 broad.mit.edu 37 10 52103485 52103485 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:52103485C>T uc001jje.3 - 6 1344 c.390G>A c.(388-390)atG>atA p.M130I SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.M130I|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.M130I|SGMS1_uc021pqo.1_Missense_Mutation_p.M130I|SGMS1_uc021pqp.1_Non-coding_Transcript NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA. 136 apoptosis|cell growth|sphingomyelin biosynthetic process Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TGCCCCACTCCATGGGGTACT 0.493000 81 22 0 0 0.00047179 0 0 ATP10D 57205 broad.mit.edu 37 4 47556760 47556760 + Silent SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:47556760A>G uc003gxk.1 + 10 1817 c.1653A>G c.(1651-1653)ccA>ccG p.P551P ATP10D_uc003gxl.1_5'UTR NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 551 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ACGTGGTACCAGACACCAGGC 0.348000 65 20 0 0 0.00278032 0 0 HERC1 8925 broad.mit.edu 37 15 63955362 63955362 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:63955362G>A uc002amp.3 - 43 8870 c.8722C>T c.(8722-8724)Cgg>Tgg p.R2908W NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 2908 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CCTTCTCTCCGACTTTGATTC 0.403000 229 27 0 0 0.00178596 0 0 EPHA6 285220 broad.mit.edu 37 3 96962944 96962944 + Missense_Mutation SNP T G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:96962944T>G uc010how.1 + 4 1462 c.1419T>G c.(1417-1419)tgT>tgG p.C473W EPHA6_uc003drp.1_Missense_Mutation_p.C473W NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 378 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CCAGCCAGTGTGAGGACTGTG 0.468000 61 4 0 0 0.00024832 0 0 GCET2 257144 broad.mit.edu 37 3 111842515 111842515 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:111842515C>T uc021xcl.1 - 5 515 c.330G>A c.(328-330)gaG>gaA p.E110E C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Silent_p.E108E|GCET2_uc021xcm.1_Silent_p.E93E NM_001190259 NP_001177188 Q8N6F7 GCET2_HUMAN Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA. 108 mitochondrion endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 8 AGGGAACATTCTCATAGTACT 0.498000 59 13 0 0 0.00185496 0 0 KIAA1217 56243 broad.mit.edu 37 10 24831694 24831694 + Nonsense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:24831694C>T uc001iru.4 + 17 4010 c.3607C>T c.(3607-3609)Caa>Taa p.Q1203* KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Nonsense_Mutation_p.Q1167*|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Nonsense_Mutation_p.Q886*|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Nonsense_Mutation_p.Q886*|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Nonsense_Mutation_p.Q39* NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1203 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AATGGAATTCCAAAAGGTGAG 0.423000 53 12 0 0 0.00136819 0 0 BAZ1A 11177 broad.mit.edu 37 14 35231092 35231092 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr14:35231092G>A uc001wsk.3 - 23 4682 c.4114C>T c.(4114-4116)Ccc>Tcc p.P1372S BAZ1A_uc001wsl.3_Missense_Mutation_p.P1340S NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA. 1372 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) GGGAAGTTGGGACTATTTTCT 0.413000 141 7 0 0 0.000157383 0 0 ODZ2 57451 broad.mit.edu 37 5 167645775 167645775 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:167645775G>A uc010jjd.3 + 22 4852 c.4852G>A c.(4852-4854)Gaa>Aaa p.E1618K ODZ2_uc003lzr.4_Missense_Mutation_p.E1388K|ODZ2_uc003lzt.4_Missense_Mutation_p.E991K|ODZ2_uc010jje.3_Missense_Mutation_p.E882K NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGATGTCACTGAATTGATTGA 0.473000 83 10 0 0 0.000673444 0 0 CNGB3 54714 broad.mit.edu 37 8 87666270 87666270 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:87666270C>T uc003ydx.3 - 6 921 c.873G>A c.(871-873)agG>agA p.R291R CNGB3_uc010maj.3_Silent_p.R153R NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 291 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TGTAGTGTTTCCTTAGCTCAT 0.289000 81 12 0 0 0.000308642 0 0 LRRC49 54839 broad.mit.edu 37 15 71302157 71302157 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:71302157C>T uc010ukf.2 + 12 1740 c.1434C>T c.(1432-1434)ttC>ttT p.F478F LRRC49_uc002asu.3_Silent_p.F463F|LRRC49_uc002asx.3_Silent_p.F429F|LRRC49_uc002asw.3_Silent_p.F473F|LRRC49_uc002asy.3_Silent_p.F179F|LRRC49_uc002asz.3_Silent_p.F445F NM_001199017 NP_001185946 Q8IUZ0 LRC49_HUMAN Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA. 473 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 ACCTTAAATTCAAGGAAACAA 0.358000 60 17 0 0 0.00074312 0 0 LAMC2 3918 broad.mit.edu 37 1 183195866 183195866 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:183195866C>T uc001gqa.2 + 8 1414 c.1100C>T c.(1099-1101)tCa>tTa p.S367L LAMC2_uc001gpz.4_Missense_Mutation_p.S367L|LAMC2_uc010poa.2_Missense_Mutation_p.S67L NM_005562 NP_005553 Q13753 LAMC2_HUMAN Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA. 367 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 ACCCTGATTTCAGCCCGCCCT 0.502000 164 40 0 0 0.00285205 0 0 HSP90B3P 343477 broad.mit.edu 37 1 92109213 92109213 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:92109213G>A uc010osx.2 + 2 1240 c.1240G>A c.(1240-1242)Gag>Aag p.E414K Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA. TGGCAACACGGAGAGAATCAT 0.473000 21 6 0 0 0.00116845 0 0 RNF149 284996 broad.mit.edu 37 2 101924848 101924848 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:101924848G>A uc002taz.2 - 0 331 c.203C>T c.(202-204)tCg>tTg p.S68L RNF149_uc002tax.2_Non-coding_Transcript NM_173647 NP_775918 Q8NC42 RN149_HUMAN Homo sapiens ring finger protein 149 (RNF149), mRNA. 68 PA. integral to membrane ligase activity|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 CTCCTTGGGCGAGCTGTCGCC 0.706000 39 6 0 0 0.00116845 0 0 SPTBN2 6712 broad.mit.edu 37 11 66478105 66478105 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:66478105G>A uc001ojd.3 - 8 1093 c.1021C>T c.(1021-1023)Cag>Tag p.Q341* NM_006946 NP_008877 O15020 SPTN2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA. 341 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 AGCTGGTTCTGGACCCCGCTA 0.622000 25 4 0 0 0.00116845 0 0 DNM1L 10059 broad.mit.edu 37 12 32866276 32866276 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:32866276T>C uc010skh.1 + 6 790 c.788T>C c.(787-789)cTt>cCt p.L263P DNM1L_uc010skf.1_Intron|DNM1L_uc010skg.1_Non-coding_Transcript|DNM1L_uc001rld.2_Missense_Mutation_p.L197P|DNM1L_uc001rle.2_Missense_Mutation_p.L197P|DNM1L_uc001rlf.2_Missense_Mutation_p.L197P|DNM1L_uc001rlg.2_Missense_Mutation_p.L263P|DNM1L_uc001rlh.2_Missense_Mutation_p.L250P|DNM1L_uc010ski.1_Intron NM_012062 NP_036192 O00429 DNM1L_HUMAN Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA. 197 GTPase domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding p.R263C(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TCAGAGGCACTTAAAATTTCA 0.368000 81 17 0 0 0.000422831 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688708 26688708 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:26688708G>A uc003acb.3 + 1 627 c.431G>A c.(430-432)aGg>aAg p.R144K SEZ6L_uc003acd.3_Missense_Mutation_p.R144K|SEZ6L_uc011akd.2_Missense_Mutation_p.R144K|SEZ6L_uc003ace.3_Missense_Mutation_p.R144K|SEZ6L_uc011akc.2_Missense_Mutation_p.R144K|SEZ6L_uc003acc.3_Missense_Mutation_p.R144K|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 144 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACTGTCCAAAGGGCAGGGTCC 0.667000 37 5 0 0 0.00198382 0 0 STRC 161497 broad.mit.edu 37 15 43892249 43892249 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:43892249G>A uc001zsf.3 - 27 5226 c.5148C>T c.(5146-5148)gtC>gtT p.V1716V STRC_uc010bdl.3_Silent_p.V943V|STRC_uc001zse.3_Silent_p.V234V NM_153700 NP_714544 Q7RTU9 STRC_HUMAN Homo sapiens stereocilin (STRC), mRNA. 1716 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GCTCAGGAGTGACAGCCACAG 0.547000 41 8 0 0 0.000442599 0 0 CDC14C 168448 broad.mit.edu 37 7 48964819 48964819 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:48964819G>A uc010kyv.1 + 0 663 c.551G>A c.(550-552)gGa>gAa p.G184E Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA. GCAGAAAACGGAGATTTAAAT 0.388000 58 9 0 0 0.000274275 0 0 OR13C8 138802 broad.mit.edu 37 9 107331700 107331700 + Silent SNP C T T rs150711746 byFrequency TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:107331700C>T uc011lvo.2 + 0 252 c.252C>T c.(250-252)agC>agT p.S84S NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TTCTTGCCAGCTTTCTGGCAG 0.458000 197 21 0 0 0.00047179 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217187 150217187 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:150217187C>T uc003whk.3 + 1 255 c.125C>T c.(124-126)gCt>gTt p.A42V GIMAP7_uc022apu.1_Missense_Mutation_p.A42V NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 42 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTGCCCAAGCTGTTACCAAG 0.498000 33 16 0 0 0.000566183 0 0 ANKRD12 23253 broad.mit.edu 37 18 9256464 9256464 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr18:9256464G>A uc002knv.3 + 8 3463 c.3199G>A c.(3199-3201)Gaa>Aaa p.E1067K ANKRD12_uc002knw.3_Missense_Mutation_p.E1044K|ANKRD12_uc002knx.3_Missense_Mutation_p.E1044K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E774K NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 1067 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 CCGACCTAAAGAAAAGAGGTT 0.333000 160 17 0 0 0.000566183 0 0 ARL11 115761 broad.mit.edu 37 13 50204908 50204908 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:50204908G>A uc001vdf.2 + 1 660 c.325G>A c.(325-327)Gac>Aac p.D109N ARL11_uc021rjo.1_Missense_Mutation_p.D109N NM_138450 NP_612459 Q969Q4 ARL11_HUMAN Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA. 109 small GTPase mediated signal transduction intracellular GTP binding|protein binding kidney(1)|large_intestine(4)|ovary(1) 6 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) AGTCCTGAACGACCCCAACAT 0.567000 101 17 0 0 0.000958276 0 0 LCP1 3936 broad.mit.edu 37 13 46716547 46716547 + Missense_Mutation SNP T A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:46716547T>A uc001vaz.4 - 12 1508 c.1382A>T c.(1381-1383)aAc>aTc p.N461I LCP1_uc010ack.3_Missense_Mutation_p.N30I|LCP1_uc001vay.4_Missense_Mutation_p.N58I|LCP1_uc001vba.4_Missense_Mutation_p.N461I NM_002298 NP_002289 P13796 PLSL_HUMAN Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA. 461 Actin-binding 2.|CH 3. T cell activation involved in immune response|regulation of intracellular protein transport cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TACCGCGTAGTTACAATTCTC 0.383000 T BCL6 NHL 54 6 0 0 0.00198382 0 0 GRM7 2917 broad.mit.edu 37 3 7721864 7721864 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:7721864G>A uc003bqm.2 + 8 2854 c.2580G>A c.(2578-2580)aaG>aaA p.K860K GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.K860K|GRM7_uc003bql.2_Silent_p.K860K|GRM7_uc003bqn.1_Silent_p.K443K NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 860 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 PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding p.R859W(1)|p.R859Q(1) 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) AGAAACGGAAGCGAAGCTTCA 0.522000 64 15 0 0 0.000422831 0 0 TMC2 117532 broad.mit.edu 37 20 2552825 2552825 + Splice_Site SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:2552825G>A uc002wgf.1 + 5 570 c.555_splice c.e5-1 p.R185_splice TMC2_uc002wgg.1_Splice_Site_p.R169_splice|TMC2_uc010zpw.1_Silent_p.R17R|TMC2_uc010zpx.1_Splice_Site_p.R16_splice NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 185 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTCTAAGCAGGGAGGCCCAGG 0.443000 46 8 0 0 0.000274275 0 0 MUC16 94025 broad.mit.edu 37 19 9090729 9090729 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:9090729C>T uc002mkp.3 - 0 1290 c.1086G>A c.(1084-1086)gaG>gaA p.E362E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 362 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 TAAGGATAGTCTCTGCTGTCT 0.488000 28 8 0 0 0.000157383 0 0 CAD 790 broad.mit.edu 37 2 27457439 27457439 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:27457439C>T uc002rji.3 + 22 3834 c.3672C>T c.(3670-3672)ccC>ccT p.P1224P CAD_uc010eyw.3_Silent_p.P1161P NM_004341 NP_004332 P27708 PYR1_HUMAN Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA. 1224 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 ATP binding|aspartate binding|aspartate carbamoyltransferase activity|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) GCTCCTTCCCCTTCGTTTCCA 0.557000 134 32 0 0 0.0024448 0 0 OTUB1 55611 broad.mit.edu 37 11 63764603 63764603 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:63764603G>A uc001nyf.1 + 5 1109 c.505G>A c.(505-507)Gac>Aac p.D169N OTUB1_uc001nyg.1_Missense_Mutation_p.D212N|OTUB1_uc010rna.1_Missense_Mutation_p.D178N|OTUB1_uc009ypb.1_Missense_Mutation_p.D139N NM_017670 NP_060140 Q96FW1 OTUB1_HUMAN Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 1, mRNA. 169 OTU. protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity p.S168S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 GAGCACCTCCGACTACCTTGT 0.597000 73 21 0 0 0.00188189 0 0 UBR4 23352 broad.mit.edu 37 1 19518857 19518857 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:19518857G>A uc001bbi.3 - 10 1223 c.1219C>T c.(1219-1221)Caa>Taa p.Q407* NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 407 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CCCAGCAATTGGAAATTCTGA 0.428000 96 22 0 0 0.00278032 0 0 TTN 7273 broad.mit.edu 37 2 179477040 179477040 + Missense_Mutation SNP C T T rs148018042 by1000genomes TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:179477040C>T uc021vsy.1 - 214 42733 c.42508G>A c.(42508-42510)Gaa>Aaa p.E14170K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E7865K|TTN_uc021vta.1_Missense_Mutation_p.E7798K|TTN_uc021vtb.1_Missense_Mutation_p.E7673K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 15097 Fibronectin type-III 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E7865K(1)|p.E7673K(1)|p.E14170K(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) TCCTCAATTTCGGTGTAGTCG 0.453000 53 8 0 0 0.000673444 0 0 ABCD2 225 broad.mit.edu 37 12 40012941 40012941 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:40012941G>A uc001rmb.2 - 0 903 c.477C>T c.(475-477)ttC>ttT p.F159F NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA. 159 ABC transmembrane type-1.|Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CACTGTTGACGAAGGTAGCAG 0.423000 66 10 0 0 0.000442599 0 0 ITGA8 8516 broad.mit.edu 37 10 15714643 15714643 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:15714643G>A uc001ioc.1 - 6 782 c.782C>T c.(781-783)tCc>tTc p.S261F ITGA8_uc010qcb.1_Missense_Mutation_p.S261F NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 261 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GTCATCATAGGAAGCTGGAGC 0.423000 117 33 0 0 0.00283554 0 0 KBTBD3 143879 broad.mit.edu 37 11 105923628 105923628 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:105923628C>T uc001pja.3 - 3 2428 c.1788G>A c.(1786-1788)gtG>gtA p.V596V KBTBD3_uc001pjb.3_Silent_p.V596V|KBTBD3_uc009yxm.3_Silent_p.V517V NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA. 592 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TAAACTGAATCACCTGGCAGT 0.378000 104 11 0 0 0.000978159 0 0 FAM53C 51307 broad.mit.edu 37 5 137680711 137680711 + Missense_Mutation SNP C G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:137680711C>G uc003lcv.3 + 3 804 c.334C>G c.(334-336)Cct>Gct p.P112A FAM53C_uc003lcw.3_Missense_Mutation_p.P112A|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron NM_001135647 NP_057689 Q9NYF3 FA53C_HUMAN Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA. 112 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCCCCCTGCCCCTCCATCCAA 0.657000 60 4 0 0 0.000602214 0 0 CD300A 11314 broad.mit.edu 37 17 72469802 72469802 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:72469802C>T uc002jkv.3 + 1 489 c.168C>T c.(166-168)ttC>ttT p.F56F CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 56 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 CACAGATTTTCCTATGTGACA 0.557000 72 6 0 0 0.00198382 0 0 ICAM3 3385 broad.mit.edu 37 19 10449497 10449497 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:10449497G>A uc002mob.2 - 1 259 c.204C>T c.(202-204)tcC>tcT p.S68S ICAM3_uc010dxd.1_5'UTR|ICAM3_uc010xlf.1_5'UTR NM_002162 NP_002153 P32942 ICAM3_HUMAN Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA. 68 Ig-like C2-type 1. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) CCTTTGATAGGGACGTCTCCA 0.567000 50 14 0 0 0.000566183 0 0 CYFIP2 26999 broad.mit.edu 37 5 156788477 156788477 + Splice_Site SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:156788477G>A uc021ygm.1 + 26 3044 c.2906_splice c.e26-1 p.G969_splice CYFIP2_uc011ddn.2_Splice_Site_p.G944_splice|CYFIP2_uc011ddo.2_Splice_Site_p.G774_splice|CYFIP2_uc021ygn.1_Splice_Site_p.G969_splice|CYFIP2_uc021ygo.1_Splice_Site_p.G969_splice|CYFIP2_uc003lwt.3_Splice_Site_p.G873_splice|CYFIP2_uc011ddp.2_Splice_Site_p.G704_splice NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 995 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCTCCCAGGGATCCTGGAGT 0.552000 119 19 0 0 0.00278032 0 0 SCN5A 6331 broad.mit.edu 37 3 38620983 38620983 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:38620983C>T uc021wvo.1 - 16 3284 c.3232G>A c.(3232-3234)Gaa>Aaa p.E1078K SCN5A_uc021wvk.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvn.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvp.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvq.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvr.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvs.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvt.1_Splice_Site_p.E1077_splice|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.E1078K|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.E944K|SCN5A_uc021wvw.1_Splice_Site_p.E688_splice NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1078 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCTGGGATTCCTGCTGAAAA 0.647000 29 6 0 0 0.000157383 0 0 DSG1 1828 broad.mit.edu 37 18 28934521 28934521 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr18:28934521G>A uc002kwp.3 + 14 2574 c.2362G>A c.(2362-2364)Gaa>Aaa p.E788K DSG1_uc010xbp.2_Missense_Mutation_p.E147K NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 788 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding p.Q787*(1) NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CCTTCCTCAGGAAACAGAGCC 0.488000 98 8 0 0 0.000157383 0 0 DMBT1 1755 broad.mit.edu 37 10 124336089 124336089 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:124336089G>A uc001lgk.1 + 6 564 c.458G>A c.(457-459)gGa>gAa p.G153E DMBT1_uc001lgl.1_Missense_Mutation_p.G153E|DMBT1_uc001lgm.1_Missense_Mutation_p.G153E|DMBT1_uc021qaf.1_Missense_Mutation_p.G153E|DMBT1_uc021qag.1_Missense_Mutation_p.G153E|DMBT1_uc021qah.1_Missense_Mutation_p.G153E|DMBT1_uc009xzz.1_Missense_Mutation_p.G153E|DMBT1_uc010qtx.1_Missense_Mutation_p.G153E|DMBT1_uc009yaa.1_Missense_Mutation_p.G5E NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 153 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCAGCTCCAGGAAATGCCTGG 0.612000 123 37 0 0 0.000814825 0 0 PRB1 5542 broad.mit.edu 37 12 11506190 11506190 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:11506190C>T uc001qzw.1 - 3 881 c.844G>A c.(844-846)Gga>Aga p.G282R PRB1_uc001qzu.1_Missense_Mutation_p.G150R|PRB1_uc001qzv.1_Missense_Mutation_p.G130R NM_005039 NP_005030 P04280 PRP1_HUMAN Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA. 344 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGGGTGGTCCTTGTGGCTTT 0.617000 150 14 0 0 0.000422831 0 0 KRT73 319101 broad.mit.edu 37 12 53002076 53002076 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:53002076C>T uc001sas.3 - 8 1562 c.1527G>A c.(1525-1527)ggG>ggA p.G509G NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 509 Tail. keratin filament structural molecule activity p.G509V(2) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TCCTGGCTTCCCCACGGGGGC 0.582000 54 8 0 0 0.000157383 0 0 NKG7 4818 broad.mit.edu 37 19 51875550 51875550 + Missense_Mutation SNP C G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:51875550C>G uc002pwj.3 - 1 340 c.169G>C c.(169-171)Gtg>Ctg p.V57L NKG7_uc002pwk.3_Intron NM_005601 NP_005592 Q16617 NKG7_HUMAN Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA. 57 integral to plasma membrane p.H56H(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GTCTGCGTCACGTGGATGTAG 0.597000 100 27 0 0 0.000878237 0 0 BMPR1B 658 broad.mit.edu 37 4 96045035 96045035 + Missense_Mutation SNP A C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:96045035A>C uc003htm.4 + 6 698 c.424A>C c.(424-426)Atc>Ctc p.I142L BMPR1B_uc010ilb.3_Missense_Mutation_p.I142L|BMPR1B_uc003htn.4_Missense_Mutation_p.I142L NM_001203 NP_001194 O00238 BMR1B_HUMAN Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA. 142 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) CTTGGTCCTTATCATATTATT 0.313000 237 39 0 0 0.00285205 0 0 KCNG4 93107 broad.mit.edu 37 16 84271028 84271028 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:84271028G>A uc010voc.2 - 1 185 c.64C>T c.(64-66)Cct>Tct p.P22S KCNG4_uc002fhu.1_Missense_Mutation_p.P22S NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA. 22 voltage-gated potassium channel complex voltage-gated potassium channel activity p.P22P(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 TGACTCCAAGGGCTGTGGGAA 0.627000 56 9 0 0 0.000673444 0 0 FAM47A 158724 broad.mit.edu 37 X 34148754 34148754 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:34148754G>A uc004ddg.3 - 0 1694 c.1642C>T c.(1642-1644)Ccc>Tcc p.P548S NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 548 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CGACTCTTGGGAAGCTCCGGG 0.612000 31 20 0 0 0.00278032 0 0 GDI1 2664 broad.mit.edu 37 X 153668320 153668320 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:153668320C>T uc004fli.4 + 4 763 c.421C>T c.(421-423)Cgc>Tgc p.R141C GDI1_uc011mzo.1_Missense_Mutation_p.R141C|GDI1_uc004flj.3_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA. 141 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACGGCGCTTCCGCAAGTTCCT 0.552000 130 65 0 0 0.000781405 0 0 MICAL2 9645 broad.mit.edu 37 11 12280079 12280079 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:12280079G>A uc001mjz.3 + 24 3495 c.3207G>A c.(3205-3207)cgG>cgA p.R1069R MICAL2_uc010rch.1_Silent_p.R879R|MICAL2_uc001mka.3_Silent_p.R1069R|MICAL2_uc010rci.2_Silent_p.R1048R|MICAL2_uc001mkb.3_Silent_p.R843R|MICAL2_uc001mkc.3_Silent_p.R822R|MICAL2_uc001mkd.3_Silent_p.R651R|MICAL2_uc010rcj.2_Silent_p.R281R|MICAL2_uc001mkf.3_Non-coding_Transcript NM_014632 NP_055447 O94851 MICA2_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA. 1069 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) GGAAGAGACGGGCAGAGTTGA 0.423000 72 13 0 0 0.000308642 0 0 ATP2B3 492 broad.mit.edu 37 X 152818590 152818590 + Missense_Mutation SNP G A A rs139853349 byFrequency TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:152818590G>A uc004fht.1 + 10 2047 c.1921G>A c.(1921-1923)Gat>Aat p.D641N ATP2B3_uc004fhs.1_Missense_Mutation_p.D641N NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA. 641 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) GATGGCTTGCGATGGCCTCCG 0.607000 22 16 0 0 0.00074312 0 0 CACNA1D 776 broad.mit.edu 37 3 53844263 53844263 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:53844263C>T uc003dgv.4 + 46 6293 c.6130C>T c.(6130-6132)Ccc>Tcc p.P2044S CACNA1D_uc003dgu.4_Missense_Mutation_p.P2064S|CACNA1D_uc003dgy.4_Missense_Mutation_p.P2020S|CACNA1D_uc003dgw.4_Missense_Mutation_p.P1711S|CACNA1D_uc011bes.2_Non-coding_Transcript NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 2044 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CCTGACTGTCCCCAGCAGCTT 0.622000 54 7 0 0 0.000157383 0 0 RHBDF2 79651 broad.mit.edu 37 17 74469098 74469098 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:74469098G>A uc002jrq.2 - 16 2280 c.1986C>T c.(1984-1986)ttC>ttT p.F662F RHBDF2_uc021udh.1_Silent_p.F633F|RHBDF2_uc002jrr.1_Silent_p.F514F NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA. 662 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 CAGCATGTAGGAAGAGAGACA 0.632000 61 7 0 0 0.000442599 0 0 ACR 49 broad.mit.edu 37 22 51183135 51183135 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:51183135G>A uc003bnh.4 + 4 778 c.766G>A c.(766-768)Gtc>Atc p.V256I NM_001097 NP_001088 P10323 ACRO_HUMAN Homo sapiens acrosin (ACR), mRNA. 256 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 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) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) CGCCTATGTGGTCGTGGGAAT 0.597000 28 5 0 0 0.000602214 0 0 DNAH8 1769 broad.mit.edu 37 6 38942249 38942249 + Silent SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:38942249T>C uc021yzh.1 + 84 12887 c.12778T>C c.(12778-12780)Tta>Cta p.L4260L DNAH8_uc003ooe.2_Silent_p.L4043L|DNAH8_uc003oog.1_Silent_p.L492L NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. 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 CATCAGTAATTTACCCATGTG 0.443000 54 24 0 0 0.000720815 0 0 UGT2B15 7366 broad.mit.edu 37 4 69536262 69536262 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:69536262C>T uc021xow.1 - 0 233 c.75G>A c.(73-75)aaG>aaA p.K25K NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 25 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ACACTAGCACCTTTCCACAGC 0.448000 410 134 0 0 0.000781405 0 0 SASH1 23328 broad.mit.edu 37 6 148854931 148854931 + Missense_Mutation SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:148854931A>G uc003qme.1 + 14 2234 c.1759A>G c.(1759-1761)Agc>Ggc p.S587G SASH1_uc011eeb.1_Missense_Mutation_p.S348G|SASH1_uc003qmf.1_5'UTR NM_015278 NP_056093 O94885 SASH1_HUMAN Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA. 587 SH3. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CGATATAATCAGCAAGCCACC 0.478000 123 34 0 0 0.000953801 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100017406 100017406 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:100017406C>T uc003uut.3 - 3 377 c.129G>A c.(127-129)ggG>ggA p.G43G ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Silent_p.G42G|ZCWPW1_uc003uuu.1_Silent_p.G42G|ZCWPW1_uc011kjt.1_Silent_p.G42G|ZCWPW1_uc011kju.1_Silent_p.G42G NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA. 43 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) GGGAACTGATCCCCGGGGTCT 0.493000 89 7 0 0 0.00198382 0 0 PREX2 80243 broad.mit.edu 37 8 69020443 69020443 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:69020443C>T uc003xxv.1 + 23 2842 c.2815C>T c.(2815-2817)Cat>Tat p.H939Y PREX2_uc011lez.1_Missense_Mutation_p.H874Y NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 939 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding 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 TACCAACTGCCATGTCAATGT 0.428000 56 5 0 0 0.000602214 0 0 CHN1 1123 broad.mit.edu 37 2 175676295 175676295 + Missense_Mutation SNP T A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:175676295T>A uc002uji.3 - 9 1249 c.908A>T c.(907-909)tAc>tTc p.Y303F CHN1_uc010zeq.2_Missense_Mutation_p.Y277F|CHN1_uc002ujj.3_Missense_Mutation_p.Y78F|CHN1_uc002ujg.3_Missense_Mutation_p.Y178F NM_001822 NP_001813 P15882 CHIN_HUMAN Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA. 303 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) TGATACTCGGTATAGTCCTTC 0.348000 T TAF15 extraskeletal myxoid chondrosarcoma 48 5 0 0 0.00116845 0 0 DDB1 1642 broad.mit.edu 37 11 61081357 61081357 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:61081357T>C uc001nrc.4 - 14 2064 c.1838A>G c.(1837-1839)tAc>tGc p.Y613C DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.Y613C NM_001923 NP_001914 Q16531 DDB1_HUMAN Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA. 613 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 GAGCCCAAAGTAGAAAAGCGC 0.448000 Nucleotide excision repair (NER) 54 12 0 0 0.00136819 0 0 CCDC127 133957 broad.mit.edu 37 5 205919 205919 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:205919G>A uc003jam.1 - 2 376 c.276C>T c.(274-276)ctC>ctT p.L92L NM_145265 NP_660308 Q96BQ5 CC127_HUMAN Homo sapiens coiled-coil domain containing 127 (CCDC127), mRNA. 92 breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 all cancers(22;0.0236)|Lung(60;0.113) GTTCCTTTTCGAGTTCCAAGG 0.502000 66 36 0 0 0.00148497 0 0 TTN 7273 broad.mit.edu 37 2 179584291 179584291 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:179584291G>A uc021vsy.1 - 78 20421 c.20196C>T c.(20194-20196)gtC>gtT p.V6732V TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V3393V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7659 Ig-like 49. 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) CAGAAACATGGACGGATACAG 0.398000 203 52 0 0 0.000781405 0 0 KSR2 283455 broad.mit.edu 37 12 118405883 118405883 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:118405883C>T uc001two.2 - 0 146 c.91G>A c.(91-93)Gag>Aag p.E31K NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 60 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACACCTACCTCCAGGGTCCGG 0.453000 168 12 0 0 0.00136819 0 0 TG 7038 broad.mit.edu 37 8 133899499 133899499 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:133899499G>A uc003ytw.3 + 8 1923 c.1882G>A c.(1882-1884)Gat>Aat p.D628N NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 628 Thyroglobulin type-1 5. 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) AAGCTATGAGGATGTCCAATG 0.522000 93 12 0 0 0.00185496 0 0 SERPINH1 871 broad.mit.edu 37 11 75282859 75282859 + Missense_Mutation SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:75282859A>G uc001owr.3 + 4 1286 c.988A>G c.(988-990)Att>Gtt p.I330V SERPINH1_uc009yug.3_Missense_Mutation_p.I330V|SERPINH1_uc001ows.3_Missense_Mutation_p.I330V|SERPINH1_uc001owt.3_Missense_Mutation_p.I113V NM_001235 NP_001226 P50454 SERPH_HUMAN Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA. 330 regulation of proteolysis|response to unfolded protein ER-Golgi intermediate compartment|endoplasmic reticulum lumen collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) GACTGAGGCCATTGACAAGAA 0.602000 41 8 0 0 0.000673444 0 0 C2orf57 165100 broad.mit.edu 37 2 232458344 232458344 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:232458344G>A uc002vrz.3 + 0 770 c.682G>A c.(682-684)Gga>Aga p.G228R NM_152614 NP_689827 Q53QW1 CB057_HUMAN Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA. 228 p.G228G(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) GGACAGCTTAGGAGACCTGCA 0.612000 120 29 0 0 0.00178596 0 0 KIAA0430 9665 broad.mit.edu 37 16 15704908 15704908 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:15704908G>A uc002ddr.3 - 18 3882 c.3675C>T c.(3673-3675)atC>atT p.I1225I KIAA0430_uc002ddq.3_Silent_p.I1059I|KIAA0430_uc010uzv.2_Silent_p.I1222I|KIAA0430_uc010uzw.2_Silent_p.I1225I NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 1224 peroxisome RNA binding|nucleotide binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCTCTGATACGATGTCAATCA 0.403000 67 19 0 0 0.00121646 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37186429 37186430 + RNA DNP CC TT TT TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:37186429_37186430CC>TT uc002hrd.1 + 0 c.271_272CC>TT Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA. AATGAGAACCCCTCTCCAACCC 0.545000 78 9 0 0 6.4e-05 0 0 PCYT1B 9468 broad.mit.edu 37 X 24605402 24605402 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:24605402G>A uc004dbi.3 - 4 754 c.521C>T c.(520-522)tCc>tTc p.S174F PCYT1B_uc004dbk.4_Missense_Mutation_p.S174F|PCYT1B_uc004dbj.3_Missense_Mutation_p.S156F NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA. 174 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) GCCAGCAGAGGAATACGGAAT 0.463000 17 9 0 0 0.000978159 0 0 PRSS58 136541 broad.mit.edu 37 7 141952342 141952342 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:141952342C>T uc003vxb.3 - 3 846 c.526G>A c.(526-528)Gaa>Aaa p.E176K PRSS58_uc003vxc.4_Missense_Mutation_p.E176K NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN Homo sapiens protease, serine, 58 (PRSS58), mRNA. 176 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.T175T(1) kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AGCATATTTTCCGTGATGTTG 0.438000 121 20 0 0 0.00229938 0 0 OR6B2 389090 broad.mit.edu 37 2 240969565 240969565 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:240969565G>A uc010zoc.2 - 0 282 c.282C>T c.(280-282)ttC>ttT p.F94F OR6B2_uc002vyr.3_Silent_p.F94F NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) TGCACCCGACGAAAGAGATGC 0.572000 37 5 0 0 0.000602214 0 0 MTOR 2475 broad.mit.edu 37 1 11316216 11316216 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:11316216G>A uc001asd.3 - 4 659 c.538C>T c.(538-540)Cct>Tct p.P180S NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 180 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 AAGAAGGTAGGGACGCTGATG 0.527000 35 6 0 0 0.00116845 0 0 C20orf26 26074 broad.mit.edu 37 20 20144804 20144804 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:20144804C>T uc002wru.3 + 10 1251 c.1137C>T c.(1135-1137)ccC>ccT p.P379P C20orf26_uc010gcw.2_Silent_p.P333P|C20orf26_uc010zse.2_Silent_p.P379P|C20orf26_uc010zsf.1_Silent_p.P379P NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 379 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ACTTCCGCCCCATCTACAGGG 0.502000 89 10 0 0 0.000673444 0 0 TMC2 117532 broad.mit.edu 37 20 2582822 2582822 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:2582822C>T uc002wgf.1 + 10 1303 c.1288C>T c.(1288-1290)Cgt>Tgt p.R430C TMC2_uc002wgg.1_Missense_Mutation_p.R414C|TMC2_uc010zpw.1_Missense_Mutation_p.R262C|TMC2_uc010zpx.1_Missense_Mutation_p.R261C NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 430 integral to membrane p.R430H(1) NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AAGATTTCTTCGTGTCCTGGC 0.388000 54 7 0 0 0.00198382 0 0 FAM165B 54065 broad.mit.edu 37 21 35757832 35757832 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr21:35757832C>T uc002ytu.4 + 2 264 c.69C>T c.(67-69)ctC>ctT p.L23L FAM165B_uc002ytv.2_Intron|FAM165B_uc002ytw.2_Non-coding_Transcript NM_058182 NP_478062 P58511 F165B_HUMAN Homo sapiens family with sequence similarity 165, member B (FAM165B), mRNA. 23 integral to membrane CATTAATTCTCTGCCTGACAT 0.418000 198 50 0 0 0.000781405 0 0 CPD 1362 broad.mit.edu 37 17 28772936 28772936 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:28772936C>T uc002hfb.2 + 11 2828 c.2771C>T c.(2770-2772)tCa>tTa p.S924L CPD_uc010wbo.2_Missense_Mutation_p.S677L|CPD_uc010wbp.2_Non-coding_Transcript NM_001304 NP_001295 O75976 CBPD_HUMAN Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA. 924 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 CGCTCCTCCTCAAATCTGGCT 0.393000 124 15 0 0 0.000308642 0 0 LRP2 4036 broad.mit.edu 37 2 170062962 170062962 + Missense_Mutation SNP G A A rs34893088 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:170062962G>A uc002ues.3 - 38 7481 c.7268C>T c.(7267-7269)tCt>tTt p.S2423F NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2423 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity p.M2422L(1) 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) ATAGTCTAGAGACATGACAGT 0.418000 64 22 0 0 0.00229938 0 0 KIAA0195 9772 broad.mit.edu 37 17 73484131 73484131 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:73484131C>T uc010wsa.2 + 4 750 c.558C>T c.(556-558)aaC>aaT p.N186N KIAA0195_uc002jnz.4_Silent_p.N176N|KIAA0195_uc010wsb.2_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 176 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) ACCTGGTCAACCTGCCAGTCA 0.567000 45 9 0 0 0.000673444 0 0 SRSF4 6429 broad.mit.edu 37 1 29475057 29475057 + Silent SNP C A A rs148084661 byFrequency TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:29475057C>A uc001bro.3 - 5 1723 c.1350G>T c.(1348-1350)tcG>tcT p.S450S SRSF4_uc010ofy.2_3'UTR NM_005626 NP_005617 Q08170 SRSF4_HUMAN Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA. 450 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck RNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 GGTTTGGTTTCGATTTGGAAT 0.517000 142 24 2.89027e-11 1.0594e-10 0.00229938 1 0 FAM90A1 55138 broad.mit.edu 37 12 8374566 8374566 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:8374566G>A uc001qui.2 - 6 1806 c.1247C>T c.(1246-1248)tCt>tTt p.S416F FAM90A1_uc001quh.2_Missense_Mutation_p.S416F NM_018088 NP_060558 Q86YD7 F90A1_HUMAN Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA. 416 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) CTTCTCAGGAGAGTGAAATGA 0.612000 43 4 0 0 0.000602214 0 0 CACNA1S 779 broad.mit.edu 37 1 201046104 201046104 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:201046104C>T uc001gvv.3 - 11 1998 c.1771G>A c.(1771-1773)Gaa>Aaa p.E591K NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 591 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) CGCCGTACTTCTGTGTCTTCA 0.567000 102 18 0 0 0.00152264 0 0 DAB1 1600 broad.mit.edu 37 1 57535063 57535063 + Silent SNP A T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:57535063A>T uc009vzx.1 - 7 953 c.633T>A c.(631-633)cgT>cgA p.R211R DAB1_uc001cyt.1_Silent_p.R211R|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Silent_p.R211R NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 211 cell differentiation|nervous system development p.R211H(1) 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 TTTCGGGATCACGGATTGGCT 0.403000 107 25 0 0 0.00106085 0 0 HADHB 3032 broad.mit.edu 37 2 26507820 26507820 + Missense_Mutation SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:26507820A>G uc002rgz.3 + 13 1470 c.1219A>G c.(1219-1221)Acc>Gcc p.T407A HADHB_uc010ykv.2_Missense_Mutation_p.T385A|HADHB_uc010ykw.2_Missense_Mutation_p.T392A|HADHB_uc010ykx.2_Missense_Mutation_p.T333A NM_000183 NP_000174 P55084 ECHB_HUMAN Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA. 407 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) GGGTAGAAAAACCAAGGTGAG 0.338000 230 23 0 0 0.00278032 0 0 DDX17 10521 broad.mit.edu 37 22 38890739 38890739 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:38890739G>A uc003avy.4 - 7 1213 c.1110C>T c.(1108-1110)ttC>ttT p.F370F DDX17_uc003avx.4_Silent_p.F370F|DDX17_uc011anu.2_Silent_p.F283F NM_001098504 NP_001091974 Q92841 DDX17_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA. 291 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) AATCACGAAGGAAATCCTCTG 0.463000 197 30 0 0 0.00178596 0 0 CYP4F2 8529 broad.mit.edu 37 19 16000503 16000503 + Splice_Site SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:16000503C>T uc002nbs.1 - 7 698 c.648_splice c.e7-1 p.E216_splice CYP4F2_uc010xot.1_Splice_Site_p.E67_splice|CYP4F2_uc010xou.1_Splice_Site_p.E67_splice NM_001082 NP_001073 P78329 CP4F2_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA. 216 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CACTGGGTTTCCTGCAGGATA 0.468000 137 22 0 0 0.000878237 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171462 39171462 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:39171462G>A uc004abi.3 - 7 1476 c.1237C>T c.(1237-1239)Cga>Tga p.R413* CNTNAP3_uc004abj.3_Nonsense_Mutation_p.R413*|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Nonsense_Mutation_p.R413*|CNTNAP3_uc011lqs.1_Nonsense_Mutation_p.R413* NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA. 413 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAACCACGTCGAAGTTCGCCG 0.498000 73 13 0 0 0.00136819 0 0 C15orf23 90417 broad.mit.edu 37 15 40675119 40675119 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:40675119C>T uc001zll.3 + 0 198 c.83C>T c.(82-84)cCg>cTg p.P28L C15orf23_uc001zlo.3_Missense_Mutation_p.P28L|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.P28L NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA. 28 nucleus protein binding central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 14 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) CACCCACTTCCGCCTAGCTAC 0.567000 56 15 0 0 0.000566183 0 0 PPP1R36 145376 broad.mit.edu 37 14 65054821 65054821 + Splice_Site SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr14:65054821G>A uc001xhl.1 + 11 987 c.891_splice c.e11-1 p.R297_splice PPP1R36_uc001xhm.1_Splice_Site_p.R27_splice NM_172365 NP_758953 Q96LQ0 CN050_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA. 297 CTCCCCGACAGGAGAATGATG 0.463000 82 7 0 0 0.00198382 0 0 SETD5 55209 broad.mit.edu 37 3 9483415 9483415 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:9483415T>C uc003brt.3 + 8 1384 c.949T>C c.(949-951)Ttc>Ctc p.F317L SETD5_uc003brs.1_Missense_Mutation_p.F298L|SETD5_uc003bru.3_Missense_Mutation_p.F219L|SETD5_uc003brv.3_Missense_Mutation_p.F206L|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN Homo sapiens SET domain containing 5 (SETD5), mRNA. 317 SET. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CAATGGGCATTTCTTCAAAAA 0.423000 102 21 0 0 0.00188189 0 0 TTC39C 125488 broad.mit.edu 37 18 21649138 21649138 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr18:21649138C>T uc002kuw.3 + 3 815 c.363C>T c.(361-363)tcC>tcT p.S121S TTC39C_uc002kuu.3_Silent_p.S60S NM_001135993 NP_694943 Q8N584 TT39C_HUMAN Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA. 121 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 TCCGAAAATCCGCCCCCTCTA 0.433000 78 8 0 0 0.000157383 0 0 CC2D1B 200014 broad.mit.edu 37 1 52821912 52821912 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:52821912T>C uc001ctq.2 - 17 2169 c.2018A>G c.(2017-2019)cAg>cGg p.Q673R CC2D1B_uc001ctr.3_Missense_Mutation_p.Q213R|CC2D1B_uc001cts.3_Missense_Mutation_p.Q358R NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA. 673 breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 GTCGAGGCCCTGAGCCTGGGC 0.572000 102 22 0 0 0.00047179 0 0 MGAT3 4248 broad.mit.edu 37 22 39883496 39883496 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:39883496C>T uc003axv.4 + 1 383 c.144C>T c.(142-144)agC>agT p.S48S MGAT3_uc010gxy.3_Silent_p.S48S NM_002409 NP_002400 Q09327 MGAT3_HUMAN Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA. 48 Pro-rich. post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) TGGTGTCCAGCTTTTTCTGGA 0.637000 207 38 0 0 0.00195071 0 0 DNAH7 56171 broad.mit.edu 37 2 196602772 196602772 + Missense_Mutation SNP C T T rs62203618 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:196602772C>T uc002utj.4 - 64 12049 c.11948G>A c.(11947-11949)cGg>cAg p.R3983Q DNAH7_uc002uti.4_Missense_Mutation_p.R466Q NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3983 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 TACTCCTCTCCGCTCACTTGT 0.463000 61 7 0 0 0.00198382 0 0 TIAM2 26230 broad.mit.edu 37 6 155450802 155450802 + Missense_Mutation SNP T A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:155450802T>A uc003qqb.3 + 5 1718 c.445T>A c.(445-447)Tcc>Acc p.S149T TIAM2_uc003qqe.3_Missense_Mutation_p.S149T NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 149 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 Rho guanyl-nucleotide exchange factor activity|receptor signaling protein 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) GAGCATTGCCTCCACCCCACC 0.572000 26 9 0 0 0.000978159 0 0 FGFR1 2260 broad.mit.edu 37 8 38273548 38273548 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:38273548G>A uc022aua.1 - 12 2636 c.1694C>T c.(1693-1695)tCc>tTc p.S565F FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.S596F|FGFR1_uc011lbv.2_Missense_Mutation_p.S563F|FGFR1_uc011lbw.2_Missense_Mutation_p.S476F|FGFR1_uc003xlp.3_Missense_Mutation_p.S563F|FGFR1_uc022aub.1_Missense_Mutation_p.S563F|FGFR1_uc022auc.1_Missense_Mutation_p.S476F|FGFR1_uc022aud.1_Missense_Mutation_p.S474F|FGFR1_uc010lwk.3_Missense_Mutation_p.S555F NM_023110 NP_075598 P11362 FGFR1_HUMAN Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA. 565 Protein kinase. MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GTTGCCCTTGGAGGCATACTC 0.607000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 28 5 0 0 0.000157383 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518385 161518385 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:161518385C>T uc001gar.3 - 2 437 c.253G>A c.(253-255)Gga>Aga p.G85R FCGR3A_uc001gas.3_Missense_Mutation_p.G84R|FCGR3A_uc001gat.4_Missense_Mutation_p.G49R|FCGR3A_uc009wuh.3_Missense_Mutation_p.G48R|FCGR3A_uc009wui.3_Missense_Mutation_p.G49R NM_000569 NP_001121067 P08637 FCG3A_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA. 49 Ig-like C2-type 1. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GAGTAGGCTCCCTGGCACTTC 0.537000 238 27 0 0 0.00127121 0 0 N6AMT1 29104 broad.mit.edu 37 21 30255315 30255315 + Silent SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr21:30255315A>G uc002ymo.1 - 1 239 c.213T>C c.(211-213)gcT>gcC p.A71A N6AMT1_uc002ymp.1_Silent_p.A71A|N6AMT1_uc002ymq.1_Non-coding_Transcript NM_013240 NP_037372 Q9Y5N5 HEMK2_HUMAN Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA. 71 positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity p.Q70K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2) 12 ACATGTACAAAGCCTGAGGGC 0.343000 49 8 0 0 0.000274275 0 0 GLIPR1 11010 broad.mit.edu 37 12 75875797 75875797 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:75875797G>A uc001sxs.3 + 1 506 c.358G>A c.(358-360)Gaa>Aaa p.E120K GLIPR1_uc009zsb.1_Missense_Mutation_p.E120K NM_006851 NP_006842 P48060 GLIP1_HUMAN Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA. 120 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 CTGGTATGACGAAATCCAGGA 0.453000 56 9 0 0 0.000442599 0 0 RWDD3 25950 broad.mit.edu 37 1 95699828 95699828 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:95699828G>A uc009wdu.3 + 0 118 c.42G>A c.(40-42)gcG>gcA p.A14A TMEM56_uc001drd.4_Intron|AK090700_uc001dre.1_5'Flank|RWDD3_uc010oty.2_5'UTR|RWDD3_uc009wdt.3_Silent_p.A14A|RWDD3_uc001drh.4_5'UTR|RWDD3_uc001dri.4_Silent_p.A14A|RWDD3_uc001drf.4_Silent_p.A14A|RWDD3_uc009wdv.3_Non-coding_Transcript|RWDD3_uc001drg.4_Non-coding_Transcript NM_015485 NP_056300 Q9Y3V2 RWDD3_HUMAN Homo sapiens RWD domain containing 3 (RWDD3), transcript variant 1, mRNA. 14 RWD. cytoplasm|nucleus protein binding kidney(1)|large_intestine(2)|lung(6)|ovary(1) 10 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) TCCTGGCCGCGATTTTCTGCA 0.726000 8 5 0 0 0.00116845 0 0 IGSF21 84966 broad.mit.edu 37 1 18702887 18702887 + Nonsense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:18702887C>T uc001bau.2 + 6 1482 c.1099C>T c.(1099-1101)Cag>Tag p.Q367* IGSF21_uc001bav.2_Nonsense_Mutation_p.Q188* NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 367 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCATGGGTTTCAGGTCAGCCT 0.577000 90 11 0 0 0.00136819 0 0 PTPRO 5800 broad.mit.edu 37 12 15734656 15734656 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:15734656C>T uc001rcv.2 + 22 3646 c.3176C>T c.(3175-3177)gCc>gTc p.A1059V PTPRO_uc001rcw.2_Missense_Mutation_p.A1031V|PTPRO_uc001rcx.2_Missense_Mutation_p.A248V|PTPRO_uc001rcy.2_Missense_Mutation_p.A248V|PTPRO_uc001rcz.2_Missense_Mutation_p.A220V|PTPRO_uc001rda.2_Missense_Mutation_p.A220V NM_030667 NP_109592 Q16827 PTPRO_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA. 1059 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GAACCTATAGCCTATGGAGAC 0.453000 63 6 0 0 0.000274275 0 0 CSMD3 114788 broad.mit.edu 37 8 113348948 113348948 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:113348948C>T uc003ynu.3 - 43 7111 c.6952G>A c.(6952-6954)Ggg>Agg p.G2318R CSMD3_uc003yns.3_Missense_Mutation_p.G1520R|CSMD3_uc003ynt.3_Missense_Mutation_p.G2278R|CSMD3_uc011lhx.2_Missense_Mutation_p.G2214R|CSMD3_uc003ynw.1_Missense_Mutation_p.G29R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2318 CUB 13. 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 ATGCCATTCCCAGGGGGTACT 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 145 28 0 0 0.00209593 0 0 C15orf2 23742 broad.mit.edu 37 15 24922823 24922823 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:24922823C>T uc001ywo.3 + 0 2283 c.1809C>T c.(1807-1809)tcC>tcT p.S603S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 603 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TCCCAAATTCCCAAATACATT 0.458000 61 23 0 0 0.00229938 0 0 CRB2 286204 broad.mit.edu 37 9 126132513 126132513 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:126132513C>T uc004bnx.1 + 6 1273 c.1181C>T c.(1180-1182)tCt>tTt p.S394F CRB2_uc004bnw.1_Missense_Mutation_p.S394F NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA. 394 EGF-like 8; calcium-binding (Potential). extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 CGCGACTGTTCTGTGCAGCTC 0.637000 25 5 0 0 0.00116845 0 0 METTL16 79066 broad.mit.edu 37 17 2323568 2323568 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:2323568G>A uc002fut.3 - 9 1533 c.1385C>T c.(1384-1386)cCc>cTc p.P462L METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Missense_Mutation_p.P244L NM_024086 NP_076991 Q86W50 MET16_HUMAN Homo sapiens methyltransferase like 16 (METTL16), mRNA. 462 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 ATCCTCCGTGGGTTCCGGGTT 0.632000 123 23 0 0 0.000586117 0 0 OSBPL3 26031 broad.mit.edu 37 7 24888786 24888786 + Missense_Mutation SNP G T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:24888786G>T uc003sxf.3 - 11 1573 c.1168C>A c.(1168-1170)Caa>Aaa p.Q390K OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Intron|OSBPL3_uc003sxh.3_Missense_Mutation_p.Q359K|OSBPL3_uc003sxi.3_Intron|OSBPL3_uc003sxj.1_Intron|OSBPL3_uc003sxk.1_Intron NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA. 390 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TCTGTGTTTTGTGCTAGGGCC 0.512000 110 13 4.3838e-07 1.5918e-06 0.00185496 1 0 CDH8 1006 broad.mit.edu 37 16 61859019 61859019 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:61859019G>A uc002eog.2 - 4 1687 c.732C>T c.(730-732)atC>atT p.I244I CDH8_uc002eoh.3_Silent_p.I13I NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 244 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTTTGGCTTGGATAACAACCA 0.458000 93 12 0 0 0.00185496 0 0 PEG3 5178 broad.mit.edu 37 19 57326051 57326051 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:57326051C>T uc002qnu.2 - 6 4110 c.3759G>A c.(3757-3759)ctG>ctA p.L1253L PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.L1224L|PEG3_uc002qnv.2_Silent_p.L1253L|PEG3_uc002qnw.2_Silent_p.L1129L|PEG3_uc002qnx.2_Silent_p.L1127L|PEG3_uc010etr.2_Silent_p.L1253L NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1253 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) GGCTCTGCTCCAGTAAATCAT 0.478000 52 6 0 0 0.00198382 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572239 101572239 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:101572239C>T uc003dvp.3 + 4 984 c.869C>T c.(868-870)tCt>tTt p.S290F NFKBIZ_uc003dvo.3_Missense_Mutation_p.S190F|NFKBIZ_uc010hpo.3_Missense_Mutation_p.S190F|NFKBIZ_uc003dvq.3_Intron NM_031419 NP_001005474 Q9BYH8 IKBZ_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA. 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 TACCAGTATTCTCCACAGAAC 0.512000 82 9 0 0 0.000673444 0 0 TFDP1 7027 broad.mit.edu 37 13 114287473 114287473 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:114287473T>C uc001vtw.3 + 5 559 c.347T>C c.(346-348)cTa>cCa p.L116P TFDP1_uc010tkd.2_Missense_Mutation_p.L21P|TFDP1_uc010tke.2_Missense_Mutation_p.L21P|TFDP1_uc001vty.4_Missense_Mutation_p.L116P|TFDP1_uc010agx.3_Missense_Mutation_p.L116P NM_007111 NP_009042 Q14186 TFDP1_HUMAN Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA. 116 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding p.G115D(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) GGCAAGGGCCTACGGCATTTC 0.527000 TSP Lung(29;0.18) 45 13 0 0 0.00244969 0 0 IFT122 55764 broad.mit.edu 37 3 129195284 129195284 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:129195284G>A uc003eml.3 + 10 1302 c.1096G>A c.(1096-1098)Ggg>Agg p.G366R IFT122_uc003emm.3_Missense_Mutation_p.G315R|IFT122_uc003emn.3_Missense_Mutation_p.G256R|IFT122_uc003emo.3_Missense_Mutation_p.G204R|IFT122_uc003emp.3_Missense_Mutation_p.G165R|IFT122_uc010htc.3_Missense_Mutation_p.G307R|IFT122_uc011bky.2_Missense_Mutation_p.G106R|IFT122_uc011bla.2_Missense_Mutation_p.G106R|IFT122_uc003emr.3_Missense_Mutation_p.G106R|IFT122_uc011bkx.1_Missense_Mutation_p.G155R|IFT122_uc011bkz.1_Non-coding_Transcript NM_052985 NP_443711 Q9HBG6 IF122_HUMAN Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA. 315 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 AGTGCGGCTTGGGACTGTTGG 0.512000 120 19 0 0 0.00188189 0 0 STARD4 134429 broad.mit.edu 37 5 110835597 110835597 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:110835597C>T uc003kph.1 - 5 689 c.605G>A c.(604-606)cGa>cAa p.R202Q STARD4_uc010jbw.1_Missense_Mutation_p.R104Q|STARD4_uc010jbx.1_Missense_Mutation_p.R104Q|STARD4_uc003kpi.1_Non-coding_Transcript NM_139164 NP_631903 Q96DR4 STAR4_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA. 202 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) TAAAGCTTTTCGTAAATCACC 0.403000 63 15 0 0 0.00244969 0 0 EPPK1 83481 broad.mit.edu 37 8 144941668 144941668 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:144941668C>T uc003zaa.1 - 0 5767 c.5754G>A c.(5752-5754)agG>agA p.R1918R NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1918 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) TGAGCTCCTTCCTGCTGGCCT 0.657000 30 5 0 0 0.000602214 0 0 CPEB1 64506 broad.mit.edu 37 15 83222286 83222286 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:83222286G>A uc002bit.3 - 6 1311 c.1174C>T c.(1174-1176)Cgt>Tgt p.R392C CPEB1_uc002bir.3_Missense_Mutation_p.R257C|CPEB1_uc002bis.3_Missense_Mutation_p.R257C|CPEB1_uc010uod.2_Missense_Mutation_p.R106C|CPEB1_uc002biq.3_Missense_Mutation_p.R257C|CPEB1_uc010uoe.2_Missense_Mutation_p.R335C|CPEB1_uc002biu.3_Missense_Mutation_p.R359C|CPEB1_uc010uof.2_Missense_Mutation_p.R257C|CPEB1_uc002biv.3_Missense_Mutation_p.R332C|CPEB1_uc002bip.3_Missense_Mutation_p.R106C NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA. 332 Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) CCAAAAACACGGAAGGTGTTA 0.458000 26 4 0 0 0.00024832 0 0 APC 324 broad.mit.edu 37 5 112179658 112179658 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:112179658C>T uc003kpz.4 + 16 8560 c.8367C>T c.(8365-8367)agC>agT p.S2789S APC_uc011cvt.2_Silent_p.S2771S|APC_uc003kpy.4_Silent_p.S2789S|APC_uc010jbz.3_Silent_p.S2506S|APC_uc010jca.3_Silent_p.S2089S NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 2789 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ACAACCCAAGCCCTAGGAAAA 0.478000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 75 12 0 0 0.00244969 0 0 PHEX 5251 broad.mit.edu 37 X 22095764 22095764 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:22095764T>C uc004dah.3 + 4 810 c.607T>C c.(607-609)Ttc>Ctc p.F203L PHEX_uc011mjr.2_Missense_Mutation_p.F203L|PHEX_uc011mjs.2_Missense_Mutation_p.F106L NM_000444 NP_000435 P78562 PHEX_HUMAN Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA. 203 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 CAATTCTGTGTTCATCCGTTT 0.428000 103 41 0 0 0.0025221 0 0 ZAN 7455 broad.mit.edu 37 7 100345200 100345200 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:100345200C>T uc003uwj.3 + 8 1124 c.959C>T c.(958-960)tCa>tTa p.S320L ZAN_uc003uwk.3_Missense_Mutation_p.S320L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 320 MAM 2. 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) ACTCTCTTCTCAGGACAACCT 0.517000 66 10 0 0 0.000442599 0 0 RYR2 6262 broad.mit.edu 37 1 237886500 237886500 + Missense_Mutation SNP G T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:237886500G>T uc001hyl.1 + 73 10747 c.10627G>T c.(10627-10629)Gat>Tat p.D3543Y RYR2_uc010pxz.1_Missense_Mutation_p.D498Y|RYR2_uc021pkz.1_Non-coding_Transcript NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 3543 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGATACCTCAGATCCAGAGAA 0.393000 189 16 4.7546e-09 1.73619e-08 0.000422831 1 0 SLC6A13 6540 broad.mit.edu 37 12 369019 369019 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:369019C>T uc001qic.2 - 1 290 c.200G>A c.(199-201)gGa>gAa p.G67E SLC6A13_uc009zdj.2_Missense_Mutation_p.G67E|SLC6A13_uc010sdl.2_Missense_Mutation_p.G67E|SLC6A13_uc001qid.2_Missense_Mutation_p.G67E NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 67 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CATCTCACCTCCCCCATTTTT 0.537000 95 14 0 0 0.00185496 0 0 FZD5 7855 broad.mit.edu 37 2 208632349 208632349 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:208632349G>A uc021vvr.1 - 0 1115 c.1115C>T c.(1114-1116)tCc>tTc p.S372F FZD5_uc002vcj.3_Missense_Mutation_p.S372F NM_003468 NP_003459 Q13467 FZD5_HUMAN Homo sapiens frizzled family receptor 5 (FZD5), mRNA. 372 Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) TGCCGTGATGGACTTGACGCT 0.667000 9 6 0 0 0.00198382 0 0 PROKR2 128674 broad.mit.edu 37 20 5283226 5283226 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:5283226C>T uc010zqw.2 - 1 623 c.615G>A c.(613-615)aaG>aaA p.K205K PROKR2_uc010zqx.2_Silent_p.K205K|PROKR2_uc010zqy.2_Silent_p.K205K NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 205 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CACAGAAGATCTTCTCCTGGC 0.512000 HNSCC(71;0.22) 116 18 0 0 0.000958276 0 0 DNAJC2 27000 broad.mit.edu 37 7 102956276 102956276 + Missense_Mutation SNP T A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:102956276T>A uc003vbo.3 - 14 1822 c.1571A>T c.(1570-1572)aAg>aTg p.K524M PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_Missense_Mutation_p.K149M|DNAJC2_uc010lix.3_Missense_Mutation_p.K471M|DNAJC2_uc003vbp.3_Missense_Mutation_p.K149M NM_014377 NP_055192 Q99543 DNJC2_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA. 524 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TTTTTTGAACTTATCAAATGC 0.308000 56 10 0 0 0.00185496 0 0 RERE 473 broad.mit.edu 37 1 8422900 8422900 + Missense_Mutation SNP G C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:8422900G>C uc001ape.3 - 16 2555 c.1745C>G c.(1744-1746)tCg>tGg p.S582W RERE_uc001apf.3_Missense_Mutation_p.S582W|RERE_uc010nzx.1_Missense_Mutation_p.S314W|RERE_uc001apd.3_Missense_Mutation_p.S28W NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 582 NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GCGTAGTGTCGACATCTGCCC 0.617000 62 17 0 0 0.000566183 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156400 70156400 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:70156400C>T uc003hej.3 + 4 1183 c.1181C>T c.(1180-1182)cCa>cTa p.P394L UGT2B28_uc010ihr.3_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 394 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) GTAGGCATTCCATTGTTTTGG 0.463000 179 32 0 0 0.000814825 0 0 NRG3 10718 broad.mit.edu 37 10 84738844 84738844 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:84738844G>A uc021pvc.1 + 7 1578 c.1551G>A c.(1549-1551)agG>agA p.R517R NRG3_uc010qlz.1_Silent_p.R516R|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.R517R|NRG3_uc001kcp.2_Silent_p.R296R|NRG3_uc001kcq.2_Silent_p.R167R|NRG3_uc021pvd.1_Silent_p.R296R|NRG3_uc021pve.1_Silent_p.R321R|NRG3_uc021pvf.1_Silent_p.R167R|NRG3_uc021pvg.1_Silent_p.R321R|NRG3_uc021pvh.1_Silent_p.R105R|NRG3_uc021pvi.1_Silent_p.R347R|NRG3_uc021pvk.1_Silent_p.R33R|NRG3_uc001kcr.2_Silent_p.R167R|NRG3_uc021pvl.1_Silent_p.R167R NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 517 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AAGAATCAAGGATCCCAGACC 0.478000 44 10 0 0 0.000673444 0 0 ENPEP 2028 broad.mit.edu 37 4 111397936 111397936 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:111397936C>T uc003iab.4 + 0 708 c.366C>T c.(364-366)tcC>tcT p.S122S NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 122 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TGAGCATCTCCATCAACCTGA 0.632000 149 12 0 0 0.00136819 0 0 CD163L1 283316 broad.mit.edu 37 12 7521977 7521977 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:7521977C>T uc010sge.2 - 14 4071 c.4045G>A c.(4045-4047)Gaa>Aaa p.E1349K CD163L1_uc001qsy.3_Missense_Mutation_p.E1339K NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 1339 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 CCAGCATCTTCCTTGTGTCCA 0.507000 120 10 0 0 0.00136819 0 0 GRM3 2913 broad.mit.edu 37 7 86468913 86468913 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:86468913C>T uc003uid.3 + 3 3182 c.2083C>T c.(2083-2085)Ctg>Ttg p.L695L GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.L567L|GRM3_uc010leh.3_Silent_p.L287L NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 695 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) CTGCCTGGGTCTGATCCTGGT 0.537000 53 7 0 0 0.00198382 0 0 PCDH15 65217 broad.mit.edu 37 10 55582494 55582494 + Silent SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:55582494A>G uc010qhy.1 - 34 5408 c.5013T>C c.(5011-5013)ttT>ttC p.F1671F PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.F1666F|PCDH15_uc021pqz.1_Silent_p.F1641F|PCDH15_uc010qhv.1_Silent_p.F1661F|PCDH15_uc010qhw.1_Silent_p.F1624F|PCDH15_uc010qhx.1_Silent_p.F1595F|PCDH15_uc010qhz.1_Silent_p.F1666F|PCDH15_uc010qia.1_Silent_p.F1644F|PCDH15_uc001jju.1_Silent_p.F1664F|PCDH15_uc010qib.1_Silent_p.F1641F NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1664 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) GAGGCCTGGGAAAGCAAAATG 0.413000 HNSCC(58;0.16) 54 17 0 0 0.000566183 0 0 LCP2 3937 broad.mit.edu 37 5 169677818 169677818 + Nonsense_Mutation SNP G C C rs76018609 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:169677818G>C uc003man.1 - 19 1602 c.1395C>G c.(1393-1395)taC>taG p.Y465* C5orf58_uc003mal.2_Intron|LCP2_uc011des.1_Nonsense_Mutation_p.Y260*|LCP2_uc011det.1_Nonsense_Mutation_p.Y294* NM_005565 NP_005556 Q13094 LCP2_HUMAN Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA. 465 SH2. T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) CTTTATCTTTGTACAACACCA 0.383000 75 10 0 0 0.000673444 0 0 SLC7A3 84889 broad.mit.edu 37 X 70148725 70148725 + Silent SNP G A A rs141540446 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:70148725G>A uc004dyn.3 - 2 672 c.498C>T c.(496-498)ttC>ttT p.F166F SLC7A3_uc004dyo.3_Silent_p.F166F NM_032803 NP_116192 Q8WY07 CTR3_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA. 166 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCAAAGCAAAGAAATCTGGAT 0.547000 20 10 0 0 0.000673444 0 0 ADAM2 2515 broad.mit.edu 37 8 39627032 39627032 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:39627032G>A uc003xnj.3 - 11 1166 c.1091C>T c.(1090-1092)tCa>tTa p.S364L ADAM2_uc003xnk.3_Missense_Mutation_p.S345L|ADAM2_uc011lck.2_Missense_Mutation_p.S364L|ADAM2_uc003xnl.3_Missense_Mutation_p.S238L NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 364 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.S364L(2) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTCTGCTTTGAAATAAAATG 0.408000 34 9 0 0 0.000442599 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49348650 49348650 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:49348650G>A uc002pkx.3 - 15 2271 c.1720C>T c.(1720-1722)Cct>Tct p.P574S PLEKHA4_uc010eml.3_Missense_Mutation_p.P549S NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA. 574 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) TGTGGGGAAGGGAGGTGGCGA 0.572000 75 6 0 0 0.00198382 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168486 142168486 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:142168486G>A uc011kry.1 - 1 403 c.237C>T c.(235-237)ttC>ttT p.F79F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; ATCTAGGAGGGAAGTTTCCTC 0.527000 88 13 0 0 0.00136819 0 0 MYO18B 84700 broad.mit.edu 37 22 26422411 26422411 + Splice_Site SNP G C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:26422411G>C uc003abz.1 + 43 6721 c.6471_splice c.e43-1 p.R2157_splice MYO18B_uc003aca.1_Splice_Site_p.R2038_splice|MYO18B_uc010guy.1_Splice_Site_p.R2039_splice|MYO18B_uc010guz.1_Splice_Site_p.R2037_splice|MYO18B_uc011aka.1_Splice_Site_p.R1311_splice|MYO18B_uc011akb.1_Splice_Site_p.R1670_splice|MYO18B_uc010gva.1_Splice_Site_p.R140_splice|MYO18B_uc010gvb.1_Splice_Site NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2157 nucleus|sarcomere|unconventional myosin complex ATP binding|actin 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 CTTGGCACAGGATAAACGAAG 0.488000 179 37 0 0 0.00170553 0 0 MUC16 94025 broad.mit.edu 37 19 9000475 9000475 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:9000475C>T uc002mkp.3 - 53 40713 c.40509G>A c.(40507-40509)aaG>aaA p.K13503K MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.K320K|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13505 SEA 10. 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 TGGTGTTAAACTTTCTAGAGC 0.507000 63 15 0 0 0.000566183 0 0 RALGPS2 55103 broad.mit.edu 37 1 178802587 178802587 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:178802587T>C uc001glz.3 + 7 847 c.509T>C c.(508-510)tTt>tCt p.F170S RALGPS2_uc001gly.1_Missense_Mutation_p.F170S|RALGPS2_uc010pnb.2_Missense_Mutation_p.F170S NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA. 170 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 AAAACTACCTTTGAAAAATTA 0.289000 66 20 0 0 0.00121646 0 0 SLC6A20 54716 broad.mit.edu 37 3 45800494 45800494 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:45800494C>T uc011bai.2 - 10 1879 c.1755G>A c.(1753-1755)agG>agA p.R585R SLC6A20_uc003cow.3_Silent_p.R235R|SLC6A20_uc011baj.2_Silent_p.R548R NM_020208 NP_064593 Q9NP91 S6A20_HUMAN Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA. 585 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) CTGCGTCTCCCCTCTTGAGGC 0.592000 55 9 0 0 0.000673444 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885124 24885124 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr14:24885124C>T uc001wpf.4 + 8 4487 c.4169C>T c.(4168-4170)cCc>cTc p.P1390L NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1390 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 GAGCTCCTGCCCCTCTGGAGG 0.627000 73 9 0 0 0.000274275 0 0 FAM118A 55007 broad.mit.edu 37 22 45719160 45719160 + Missense_Mutation SNP C G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:45719160C>G uc003bfz.4 + 3 768 c.152C>G c.(151-153)tCg>tGg p.S51W FAM118A_uc003bga.4_Missense_Mutation_p.S51W NM_001104595 NP_060381 Q9NWS6 F118A_HUMAN Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA. 51 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GCCCTTTGCTCGTGGAGAAGC 0.607000 52 10 0 0 0.000978159 0 0 PREX2 80243 broad.mit.edu 37 8 69058575 69058575 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:69058575C>T uc003xxv.1 + 33 4246 c.4219C>T c.(4219-4221)Ctt>Ttt p.L1407F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1407 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding 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 TCATCCTGTTCTTTTTGCACA 0.318000 66 10 0 0 0.000978159 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616956 77616956 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:77616956C>T uc003yau.2 + 1 1020 c.633C>T c.(631-633)ttC>ttT p.F211F ZFHX4_uc003yat.1_Silent_p.F211F|ZFHX4_uc003yaw.1_Silent_p.F211F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 211 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATCAGGCTTTCCCAAATACCT 0.463000 HNSCC(33;0.089) 44 10 0 0 0.000978159 0 0 BSN 8927 broad.mit.edu 37 3 49699811 49699811 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:49699811G>A uc003cxe.4 + 5 10647 c.10533G>A c.(10531-10533)ttG>ttA p.L3511L NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3511 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCAGTCCTTTGGGGAGGCCCC 0.672000 23 10 0 0 0.000442599 0 0 FAM24B 196792 broad.mit.edu 37 10 124610020 124610020 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:124610020G>A uc001lgt.3 - 2 346 c.12C>T c.(10-12)atC>atT p.I4I CUZD1_uc001lgs.3_5'UTR|CUZD1_uc010qtz.2_Intron|FAM24B_uc021qai.1_Silent_p.I4I|LOC399815_uc001lgu.3_5'Flank NM_152644 NP_689857 Q8N5W8 FA24B_HUMAN Homo sapiens family with sequence similarity 24, member B (FAM24B), transcript variant 1, mRNA. 4 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141) TACCACCAGCGATGACAGGCA 0.493000 87 25 0 0 0.000586117 0 0 PDE4B 5142 broad.mit.edu 37 1 66827409 66827409 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:66827409C>T uc001dcn.3 + 9 1144 c.953C>T c.(952-954)tCa>tTa p.S318L PDE4B_uc009war.3_Missense_Mutation_p.S226L|PDE4B_uc001dco.3_Missense_Mutation_p.S318L|PDE4B_uc001dcp.3_Missense_Mutation_p.S303L|PDE4B_uc001dcq.3_Missense_Mutation_p.S146L|PDE4B_uc009was.3_Missense_Mutation_p.S85L NM_001037341 NP_002591 Q07343 PDE4B_HUMAN Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA. 318 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) ATGCATAGTTCAAGCCTAAAC 0.433000 77 18 0 0 0.00074312 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175582 143175582 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:143175582C>T uc003wdc.1 + 0 617 c.617C>T c.(616-618)tCt>tTt p.S206F LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 206 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TTAATTAATTCTCTGAGGAGG 0.463000 41 11 0 0 0.000673444 0 0 DSCAM 1826 broad.mit.edu 37 21 41711182 41711182 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr21:41711182C>T uc002yyq.1 - 6 1823 c.1371G>A c.(1369-1371)caG>caA p.Q457Q DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 457 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) ACGTGATCATCTGGCTGATGC 0.597000 35 13 0 0 0.00185496 0 0 C8orf34 116328 broad.mit.edu 37 8 69434034 69434034 + Splice_Site SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:69434034G>A uc010lyz.3 + 6 1057 c.766_splice c.e6-1 p.E256_splice C8orf34_uc010lyy.2_Splice_Site_p.E256_splice|C8orf34_uc003xyb.3_Splice_Site_p.E145_splice NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 170 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TTCTCTTCAGGAAACAGTGAC 0.388000 51 6 0 0 0.000157383 0 0 DKK2 27123 broad.mit.edu 37 4 107845771 107845771 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:107845771G>A uc003hyi.3 - 2 1165 c.460C>T c.(460-462)Cat>Tat p.H154Y DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.H154Y NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA. 154 Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) TTTGAGTAATGACCGTGGTTT 0.453000 93 12 0 0 0.000422831 0 0 TNNC1 7134 broad.mit.edu 37 3 52485442 52485442 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:52485442C>T uc003deb.3 - 4 445 c.419G>A c.(418-420)gGa>gAa p.G140E NM_003280 NP_003271 P63316 TNNC1_HUMAN Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA. 140 EF-hand 4. cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding endometrium(1)|lung(3)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525) Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922) GTTCTTGTCTCCGTCCTTCAT 0.577000 31 5 0 0 0.00116845 0 0 TTC30B 150737 broad.mit.edu 37 2 178416698 178416698 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:178416698C>T uc002uln.3 - 0 827 c.794G>A c.(793-795)aGa>aAa p.R265K TTC30B_uc010zfc.1_Missense_Mutation_p.R37K NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA. 265 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) CTCATAGTTTCTCAGTTGGTA 0.512000 150 19 0 0 0.000958276 0 0 IVL 3713 broad.mit.edu 37 1 152882714 152882714 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:152882714G>A uc021ozl.1 + 0 441 c.441G>A c.(439-441)atG>atA p.M147I IVL_uc001fau.3_Missense_Mutation_p.M147I NM_005547 NP_005538 P07476 INVO_HUMAN Homo sapiens involucrin (IVL), mRNA. 147 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AACTGGGAATGAAGAAAGAGC 0.532000 51 7 0 0 0.000274275 0 0 CD86 942 broad.mit.edu 37 3 121838341 121838341 + Missense_Mutation SNP C T T rs141281931 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:121838341C>T uc003eet.3 + 6 1078 c.950C>T c.(949-951)tCg>tTg p.S317L CD86_uc011bjo.2_Missense_Mutation_p.S235L|CD86_uc011bjp.2_Missense_Mutation_p.S205L|CD86_uc003eeu.3_Missense_Mutation_p.S311L|CD86_uc021xcz.1_Missense_Mutation_p.S263L NM_175862 NP_008820 P42081 CD86_HUMAN Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA. 317 T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|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 transcription, DNA-dependent 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) TTTAAAAGTTCGAAGACATCT 0.333000 60 5 0 0 0.00198382 0 0 CHRM2 1129 broad.mit.edu 37 7 136700038 136700038 + Missense_Mutation SNP G A A rs142493466 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:136700038G>A uc003vtf.1 + 3 1049 c.426G>A c.(424-426)atG>atA p.M142I CHRM2_uc003vtg.1_Missense_Mutation_p.M142I|CHRM2_uc003vti.1_Missense_Mutation_p.M142I|CHRM2_uc003vtm.1_Missense_Mutation_p.M142I|CHRM2_uc003vtj.1_Missense_Mutation_p.M142I|CHRM2_uc003vtk.1_Missense_Mutation_p.M142I|CHRM2_uc003vtl.1_Missense_Mutation_p.M142I|CHRM2_uc003vtn.1_Missense_Mutation_p.M142I|CHRM2_uc003vto.1_Missense_Mutation_p.M142I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.M142I NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 142 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TGGCAGGTATGATGATTGCAG 0.502000 69 20 0 0 0.00152264 0 0 SBK1 388228 broad.mit.edu 37 16 28330371 28330371 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:28330371C>T uc002dpd.3 + 2 1071 c.282C>T c.(280-282)ttC>ttT p.F94F NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA. 94 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 TGAAGAACTTCCTACGGGAGG 0.522000 134 14 0 0 0.000422831 0 0 ASXL3 80816 broad.mit.edu 37 18 31323893 31323893 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr18:31323893C>T uc010dmg.1 + 11 4136 c.4081C>T c.(4081-4083)Ccc>Tcc p.P1361S ASXL3_uc002kxq.2_Missense_Mutation_p.P1068S NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGTCTTGATTCCCCCAATGGG 0.488000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 130 21 0 0 0.00152264 0 0 NSMAF 8439 broad.mit.edu 37 8 59512321 59512321 + Missense_Mutation SNP G A A rs140579437 byFrequency TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:59512321G>A uc011lee.2 - 17 1595 c.1534C>T c.(1534-1536)Cct>Tct p.P512S NSMAF_uc003xtt.3_Missense_Mutation_p.P481S NM_001144772 NP_001138244 Q92636 FAN_HUMAN Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA. 481 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) GAAGCCCAAGGGGGAAGCTCC 0.418000 79 18 0 0 0.00152264 0 0 RUNX1T1 862 broad.mit.edu 37 8 92999120 92999120 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:92999120C>T uc022axs.1 - 7 1436 c.1249G>A c.(1249-1251)Gac>Aac p.D417N RUNX1T1_uc003yfc.2_Missense_Mutation_p.D331N|RUNX1T1_uc010mam.3_Missense_Mutation_p.D331N|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D321N|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D358N|RUNX1T1_uc022axo.1_Missense_Mutation_p.D358N|RUNX1T1_uc010mao.3_Missense_Mutation_p.D331N|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D369N|RUNX1T1_uc022axp.1_Missense_Mutation_p.D358N|RUNX1T1_uc022axq.1_Missense_Mutation_p.D358N|RUNX1T1_uc022axr.1_Missense_Mutation_p.D358N|RUNX1T1_uc022axt.1_Missense_Mutation_p.D358N|RUNX1T1_uc022axu.1_Missense_Mutation_p.D338N|RUNX1T1_uc022axv.1_Missense_Mutation_p.D358N|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D321N NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 358 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) CTTACATGGTCAAGATGTTTC 0.378000 121 16 0 0 0.00121646 0 0 CCDC170 80129 broad.mit.edu 37 6 151894598 151894598 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:151894598T>C uc003qol.3 + 5 1153 c.1064T>C c.(1063-1065)aTg>aCg p.M355T NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 355 ATTCGAGAAATGGACAGCCGG 0.493000 48 8 0 0 0.000673444 0 0 SHE 126669 broad.mit.edu 37 1 154471638 154471638 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:154471638C>T uc001ffb.3 - 1 692 c.668G>A c.(667-669)gGa>gAa p.G223E SHE_uc001ffc.3_Non-coding_Transcript NM_001010846 NP_001010846 Q5VZ18 SHE_HUMAN Homo sapiens Src homology 2 domain containing E (SHE), mRNA. 223 breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GTCGTTCTCTCCGACTCTCTC 0.438000 84 16 0 0 0.00074312 0 0 IL36RN 26525 broad.mit.edu 37 2 113820103 113820103 + Missense_Mutation SNP G A A rs144420774 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:113820103G>A uc002tis.3 + 4 450 c.317G>A c.(316-318)gGg>gAg p.G106E IL36RN_uc002tit.3_Missense_Mutation_p.G106E NM_173170 NP_775262 Q9UBH0 I36RA_HUMAN Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA. 106 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CGGGACATGGGGCTCACCTCC 0.607000 50 7 0 0 0.00198382 0 0 SARDH 1757 broad.mit.edu 37 9 136573510 136573510 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:136573510G>A uc004cep.4 - 10 1503 c.1369C>T c.(1369-1371)Cga>Tga p.R457* SARDH_uc004ceo.3_Nonsense_Mutation_p.R457*|SARDH_uc011mdo.2_Nonsense_Mutation_p.R289*|SARDH_uc011mdn.2_Nonsense_Mutation_p.R457* NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 457 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CTTCGCTCTCGGATCCAGCGG 0.657000 109 7 0 0 0.000274275 0 0 NMUR2 56923 broad.mit.edu 37 5 151784537 151784537 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:151784537G>A uc003luv.2 - 0 304 c.138C>T c.(136-138)ctC>ctT p.L46L NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA. 46 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CAGACACGGGGAGGAAGAAGT 0.547000 48 6 0 0 0.00198382 0 0 OR10P1 121130 broad.mit.edu 37 12 56030861 56030861 + Missense_Mutation SNP C G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:56030861C>G uc010spq.2 + 0 186 c.186C>G c.(184-186)ttC>ttG p.F62L NM_206899 NP_996782 Q8NGE3 O10P1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 TGTACTTCTTCCTGCGCCAAC 0.602000 77 12 0 0 0.000958276 0 0 LRTM1 57408 broad.mit.edu 37 3 54952717 54952717 + Missense_Mutation SNP C G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:54952717C>G uc003dhl.3 - 2 941 c.807G>C c.(805-807)ttG>ttC p.L269F CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 269 integral to membrane 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) GCTCGCACTCCAAGAGTTCTC 0.607000 56 8 0 0 0.000157383 0 0 ZNF208 7757 broad.mit.edu 37 19 22156964 22156964 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:22156964C>T uc021urr.1 - 3 1021 c.872G>A c.(871-873)gGc>gAc p.G291D ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) AAAGGCTTTGCCACATTCTTC 0.388000 38 10 0 0 0.000673444 0 0 MAPK3 5595 broad.mit.edu 37 16 30129473 30129473 + Silent SNP G A A rs143182888 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:30129473G>A uc002dws.3 - 3 655 c.555C>T c.(553-555)ttC>ttT p.F185F BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Silent_p.F71F|MAPK3_uc002dwv.4_Silent_p.F185F|MAPK3_uc002dwt.3_Silent_p.F185F NM_002746 NP_002737 P27361 MK03_HUMAN Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA. 185 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GGGCCAGGCCGAAATCACAAA 0.592000 27 8 0 0 0.000442599 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608458 112608458 + Silent SNP T G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:112608458T>G uc002thi.3 - 13 1792 c.1545A>C c.(1543-1545)ccA>ccC p.P515P NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 515 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 GAGAGGGAGCTGGCAGTCCAG 0.403000 56 10 0 0 0.00136819 0 0 FAM116A 201627 broad.mit.edu 37 3 57616707 57616707 + Splice_Site SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:57616707T>C uc003dja.3 - 16 1425 c.1354_splice c.e16-1 p.E452_splice NM_152678 NP_689891 Q8IWF6 F116A_HUMAN Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA. 452 breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) ATATCTTTCCTAAAACCAAGA 0.313000 80 8 0 0 0.000274275 0 0 ACTR3 10096 broad.mit.edu 37 2 114714970 114714970 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:114714970G>A uc002tkx.1 + 11 1515 c.1195G>A c.(1195-1197)Gat>Aat p.D399N ACTR3_uc010yyc.1_Missense_Mutation_p.D337N|ACTR3_uc010yyd.1_Missense_Mutation_p.D348N NM_005721 NP_005712 P61158 ARP3_HUMAN Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA. 399 cellular component movement|cilium morphogenesis Arp2/3 protein complex ATP binding|actin binding autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 CACCAAAAAGGATTATGAAGA 0.368000 90 5 0 0 0.00198382 0 0 PCDH15 65217 broad.mit.edu 37 10 55600246 55600246 + Missense_Mutation SNP G A A rs111033363 byFrequency TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:55600246G>A uc010qhy.1 - 29 4227 c.3832C>T c.(3832-3834)Cgc>Tgc p.R1278C PCDH15_uc010qhq.2_Missense_Mutation_p.R1278C|PCDH15_uc010qhr.2_Missense_Mutation_p.R1273C|PCDH15_uc021pqv.1_Missense_Mutation_p.R1273C|PCDH15_uc021pqw.1_Missense_Mutation_p.R1285C|PCDH15_uc010qht.2_Missense_Mutation_p.R1280C|PCDH15_uc021pqx.1_Missense_Mutation_p.R1273C|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R1273C|PCDH15_uc021pqz.1_Missense_Mutation_p.R1251C|PCDH15_uc010qhv.1_Missense_Mutation_p.R1273C|PCDH15_uc010qhw.1_Missense_Mutation_p.R1236C|PCDH15_uc010qhx.1_Missense_Mutation_p.R1202C|PCDH15_uc010qhz.1_Missense_Mutation_p.R1273C|PCDH15_uc010qia.1_Missense_Mutation_p.R1251C|PCDH15_uc001jju.1_Missense_Mutation_p.R1273C|PCDH15_uc010qib.1_Missense_Mutation_p.R1251C NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1273 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) TGAACATAGCGATCCAAGATC 0.408000 HNSCC(58;0.16) 46 6 0 0 0.00116845 0 0 MUC13 56667 broad.mit.edu 37 3 124627062 124627062 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:124627062C>T uc003ehq.2 - 10 1507 c.1468G>A c.(1468-1470)Gcc>Acc p.A490T NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 490 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 TCTCTGGAGGCCGTTATCCTG 0.493000 59 5 0 0 0.00116845 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290791 141290791 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:141290791G>A uc022cfj.1 - 0 983 c.983C>T c.(982-984)tCc>tTc p.S328F MAGEC2_uc004fbu.2_Missense_Mutation_p.S328F NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 328 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GGATGGAAAGGAACTAGGAAC 0.458000 HNSCC(46;0.14) 50 30 0 0 0.00178596 0 0 COG7 91949 broad.mit.edu 37 16 23415116 23415116 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:23415116G>A uc002dlo.3 - 12 1899 c.1702C>T c.(1702-1704)Cga>Tga p.R568* NM_153603 NP_705831 P83436 COG7_HUMAN Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA. 568 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) AGCGCTGCTCGAGGTGCAGCC 0.502000 43 11 0 0 0.000673444 0 0 PHF2 5253 broad.mit.edu 37 9 96437255 96437255 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:96437255C>T uc004aub.3 + 18 2820 c.2673C>T c.(2671-2673)tcC>tcT p.S891S PHF2_uc011lug.1_Silent_p.S774S|PHF2_uc004auc.3_Silent_p.S311S NM_005392 NP_005383 O75151 PHF2_HUMAN Homo sapiens PHD finger protein 2 (PHF2), mRNA. 891 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TCTTTAAGTCCCGGTCGAAGA 0.597000 64 11 0 0 0.000422831 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150417175 150417175 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:150417175G>A uc003whq.3 + 2 223 c.83G>A c.(82-84)cGg>cAg p.R28Q GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.R28Q NM_130759 NP_570115 Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA. p.R28Q(1) GAGTCCACGCGGAGGCTCATC 0.557000 279 19 0 0 0.00278032 0 0 ZNF180 7733 broad.mit.edu 37 19 44982298 44982298 + Missense_Mutation SNP C A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:44982298C>A uc002ozf.4 - 4 682 c.400G>T c.(400-402)Gct>Tct p.A134S ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Missense_Mutation_p.A107S|ZNF180_uc002ozg.4_Missense_Mutation_p.A133S|ZNF180_uc010ejm.3_Missense_Mutation_p.A109S NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN Homo sapiens zinc finger protein 180 (ZNF180), mRNA. 134 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) ACTCCATTAGCTGGTTCTTCA 0.373000 79 10 2.17888e-05 7.88217e-05 0.000442599 1 0 DYSF 8291 broad.mit.edu 37 2 71909735 71909735 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:71909735G>A uc010fen.3 + 54 6390 c.6249G>A c.(6247-6249)cgG>cgA p.R2083R DYSF_uc010fei.3_Silent_p.R2061R|DYSF_uc010feh.3_Silent_p.R2051R|DYSF_uc002sig.4_Silent_p.R2030R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.R2075R|DYSF_uc010fee.3_Silent_p.R2065R|DYSF_uc010fef.3_Silent_p.R2082R|DYSF_uc002sie.3_Silent_p.R2044R|DYSF_uc010feo.3_Silent_p.R2076R|DYSF_uc010fej.3_Silent_p.R2052R|DYSF_uc010fel.3_Silent_p.R2031R|DYSF_uc010fem.3_Silent_p.R2066R|DYSF_uc002sif.3_Silent_p.R2045R|DYSF_uc010fek.3_Silent_p.R2062R|DYSF_uc010yqy.2_Silent_p.R925R|DYSF_uc010yqz.2_Silent_p.R805R NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 2044 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GGCGTTTCCGGTGGGCcatca 0.582000 59 17 0 0 0.000958276 0 0 SALL1 6299 broad.mit.edu 37 16 51173168 51173168 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:51173168G>A uc021tif.1 - 1 2996 c.2674C>T c.(2674-2676)Ctc>Ttc p.L892F SALL1_uc021tid.1_Missense_Mutation_p.L892F|SALL1_uc021tie.1_Missense_Mutation_p.L989F|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 989 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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G891V(1) 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) AAAGGGAAGAGGATCCCCAAA 0.433000 43 5 0 0 0.00116845 0 0 ADCY8 114 broad.mit.edu 37 8 131826335 131826335 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:131826335C>T uc003ytd.4 - 13 3149 c.2893G>A c.(2893-2895)Gag>Aag p.E965K ADCY8_uc010mds.3_Missense_Mutation_p.E834K NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 965 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) CGGTCCTTCTCTAGGAAATGG 0.522000 HNSCC(32;0.087) 74 17 0 0 0.00152264 0 0 H2BFWT 158983 broad.mit.edu 37 X 103268042 103268042 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:103268042C>T uc004elr.3 - 0 215 c.191G>A c.(190-192)cGa>cAa p.R64Q NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA. 64 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 ATGGCGCCCTCGCTTCCTCTG 0.637000 21 10 0 0 0.000442599 0 0 ECM2 1842 broad.mit.edu 37 9 95284988 95284988 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:95284988C>T uc011lty.2 - 1 348 c.161G>A c.(160-162)gGa>gAa p.G54E CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.G54E|ECM2_uc004asg.3_Missense_Mutation_p.G54E|ECM2_uc011ltz.1_Missense_Mutation_p.G54E|ECM2_uc004asi.3_Missense_Mutation_p.G54E NM_001393 NP_001384 O94769 ECM2_HUMAN Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA. 54 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 TTGCTGAATTCCAAGCTGTCT 0.373000 139 9 0 0 0.00136819 0 0 abParts 0 broad.mit.edu 37 14 107099220 107099220 + RNA SNP A T T rs148129115 by1000genomes TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr14:107099220A>T uc021ser.1 - 109 c.4854T>A Parts of antibodies, mostly variable regions. GTCTCTGGAGATGGTGAATCG 0.498000 49 4 0 0 0.00024832 0 0 DLGAP2 9228 broad.mit.edu 37 8 1581075 1581075 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:1581075C>T uc003wpl.3 + 4 1530 c.1433C>T c.(1432-1434)gCc>gTc p.A478V DLGAP2_uc003wpm.3_Missense_Mutation_p.A478V NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 557 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) GCCATGGATGCCCTCGACCTC 0.532000 38 7 0 0 0.00198382 0 0 GSTM4 2948 broad.mit.edu 37 1 110217428 110217428 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:110217428C>T uc001dyi.3 + 7 941 c.627C>T c.(625-627)ttC>ttT p.F209F GSTM4_uc001dyj.3_Silent_p.F209F|GSTM4_uc010ovt.2_Intron|GSTM4_uc009wfk.3_Intron NM_000848 NP_000839 Q03013 GSTM4_HUMAN Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA. 209 Y -> F (in dbSNP:rs2229053). xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) GACCTGTGTTCACAAAGATGG 0.582000 151 40 0 0 0.00222228 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202466597 202466597 + Silent SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:202466597T>C uc002uyf.3 - 3 433 c.381A>G c.(379-381)caA>caG p.Q127Q ALS2CR11_uc002uye.3_Silent_p.Q127Q|ALS2CR11_uc010fti.3_Silent_p.Q127Q|ALS2CR11_uc021vvc.1_Silent_p.Q127Q NM_001168221 NP_001161693 Q53TS8 AL2SA_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA. 127 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 TAGCATAATGTTGTAAACTGA 0.269000 51 6 0 0 0.00198382 0 0 TARBP1 6894 broad.mit.edu 37 1 234586267 234586267 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:234586267G>A uc001hwd.3 - 9 1768 c.1768C>T c.(1768-1770)Cct>Tct p.P590S NM_005646 NP_005637 Q13395 TARB1_HUMAN Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA. 590 RNA processing|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CTACACGTAGGGGATGGCTTA 0.358000 86 23 0 0 0.000586117 0 0 APOH 350 broad.mit.edu 37 17 64225487 64225487 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:64225487G>A uc002jfn.4 - 0 70 c.11C>T c.(10-12)cCa>cTa p.P4L NM_000042 NP_000033 P02749 APOH_HUMAN Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA. 4 blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) GATGAGCACTGGAGAAATCAT 0.383000 22 5 0 0 0.00116845 0 0 ADAM2 2515 broad.mit.edu 37 8 39626988 39626988 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:39626988G>A uc003xnj.3 - 11 1210 c.1135C>T c.(1135-1137)Cct>Tct p.P379S ADAM2_uc003xnk.3_Missense_Mutation_p.P360S|ADAM2_uc011lck.2_Missense_Mutation_p.P379S|ADAM2_uc003xnl.3_Missense_Mutation_p.P253S NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 379 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTGAAAAAAGGATCTAAGCGA 0.443000 79 17 0 0 0.000566183 0 0 OR2T2 401992 broad.mit.edu 37 1 248616305 248616305 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:248616305C>T uc001iek.1 + 0 207 c.207C>T c.(205-207)atC>atT p.I69I NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S68F(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) AGCTCTCCATCATGGATACCA 0.512000 194 12 0 0 0.000720815 0 0 OR5L1 219437 broad.mit.edu 37 11 55579281 55579281 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:55579281C>T uc001nhw.1 + 0 339 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 113 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) CTGAGGTCTTCCTGCTGGCCG 0.483000 138 24 0 0 0.00278032 0 0 TBRG4 9238 broad.mit.edu 37 7 45145221 45145221 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:45145221G>A uc011kcd.2 - 2 636 c.587C>T c.(586-588)gCc>gTc p.A196V TBRG4_uc003tmu.3_Missense_Mutation_p.A10V|TBRG4_uc003tmv.3_Missense_Mutation_p.A185V|TBRG4_uc003tmw.3_Missense_Mutation_p.A185V|TBRG4_uc003tmx.3_Missense_Mutation_p.A185V|SNORA5A_uc003tmy.3_5'Flank|SNORA5C_uc003tmz.1_5'Flank NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA. 185 G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity p.S195L(1) cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 TGCCAGGAAGGCCAGGTGCTT 0.612000 95 31 0 0 0.001512 0 0 RASSF2 9770 broad.mit.edu 37 20 4766926 4766926 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:4766926G>A uc002wld.3 - 9 916 c.862C>T c.(862-864)Cag>Tag p.Q288* RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Nonsense_Mutation_p.Q288* NM_170774 NP_739580 P50749 RASF2_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA. 288 SARAH. cell cycle|signal transduction nucleus protein binding p.Q288E(2) endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 TGGAGCTTCTGAATGAAGCTT 0.498000 251 36 0 0 0.000692331 0 0 HTT 3064 broad.mit.edu 37 4 3213790 3213790 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:3213790C>T uc021xkv.1 + 47 6694 c.6549C>T c.(6547-6549)ctC>ctT p.L2183L NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 2183 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|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) TGCAGCAGCTCCCTGCTGTCC 0.532000 65 5 0 0 0.000602214 0 0 FAM123B 139285 broad.mit.edu 37 X 63410310 63410310 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:63410310G>A uc022byb.1 - 0 2857 c.2857C>T c.(2857-2859)Cca>Tca p.P953S FAM123B_uc004dvo.3_Missense_Mutation_p.P953S NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 953 Pro-rich. Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67) NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 225 TAGGCCCCTGGGGGTTCAGTA 0.592000 14 15 0 0 0.000422831 0 0 USP43 124739 broad.mit.edu 37 17 9631342 9631343 + Missense_Mutation DNP TC CT CT TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:9631342_9631343TC>CT uc010cod.3 + 14 2407_2408 c.2407_2408TC>CT c.(2407-2409)tcc>CTc p.S803L USP43_uc002gma.4_Missense_Mutation_p.S492L|USP43_uc010vva.2_Missense_Mutation_p.S798L|USP43_uc010coe.3_Missense_Mutation_p.S600L|USP43_uc002gmc.4_Missense_Mutation_p.S315L NM_153210 NP_694942 Q70EL4 UBP43_HUMAN Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA. 803 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 ACCCACCACTTCCCGAGCCAAG 0.564000 40 4 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179428070 179428070 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:179428070C>T uc021vsy.1 - 274 75310 c.75085G>A c.(75085-75087)Gat>Aat p.D25029N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D18724N|TTN_uc021vta.1_Missense_Mutation_p.D18657N|TTN_uc021vtb.1_Missense_Mutation_p.D18532N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 25956 Ig-like 123. 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) GCGCCACCATCATAAATTGGC 0.498000 53 8 0 0 0.000157383 0 0 SCN5A 6331 broad.mit.edu 37 3 38645372 38645372 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:38645372C>T uc021wvo.1 - 10 1773 c.1721G>A c.(1720-1722)gGa>gAa p.G574E SCN5A_uc021wvk.1_Missense_Mutation_p.G574E|SCN5A_uc021wvl.1_Missense_Mutation_p.G574E|SCN5A_uc021wvm.1_Missense_Mutation_p.G574E|SCN5A_uc021wvn.1_Missense_Mutation_p.G574E|SCN5A_uc021wvp.1_Missense_Mutation_p.G574E|SCN5A_uc021wvq.1_Missense_Mutation_p.G574E|SCN5A_uc021wvr.1_Missense_Mutation_p.G574E|SCN5A_uc021wvs.1_Missense_Mutation_p.G574E|SCN5A_uc021wvt.1_Missense_Mutation_p.G574E|SCN5A_uc021wvu.1_Missense_Mutation_p.G574E|SCN5A_uc021wvv.1_Missense_Mutation_p.G574E|SCN5A_uc021wvj.1_Missense_Mutation_p.G440E|SCN5A_uc021wvi.1_Missense_Mutation_p.G440E|SCN5A_uc021wvw.1_Missense_Mutation_p.G185E NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 574 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ACTGGGCTGTCCCTGGGCACT 0.627000 88 27 0 0 0.00127121 0 0 TGM2 7052 broad.mit.edu 37 20 36784484 36784484 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:36784484G>A uc002xhr.3 - 2 298 c.198C>T c.(196-198)gcC>gcT p.A66A TGM2_uc010zvx.2_Intron|TGM2_uc010zvy.2_Silent_p.A6A|TGM2_uc002xhs.1_Intron|TGM2_uc002xht.3_Silent_p.A66A|TGM2_uc002xhu.3_Silent_p.A66A NM_004613 NP_004604 P21980 TGM2_HUMAN Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA. 66 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CCTGGCTAGGGGCTGGGCCTG 0.667000 29 5 0 0 0.00198382 0 0 COL1A2 1278 broad.mit.edu 37 7 94041986 94041986 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:94041986G>A uc003ung.1 + 24 1966 c.1495G>A c.(1495-1497)Ggc>Agc p.G499S COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 499 Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGACCCAAAGGCCCCACTGT 0.527000 HNSCC(75;0.22) 41 8 0 0 0.000442599 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058027 152058027 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:152058027C>T uc001ezo.1 - 2 2196 c.2131G>A c.(2131-2133)Gga>Aga p.G711R NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 711 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) GTTGCTCTTCCTTTCTCTTCT 0.443000 147 26 0 0 0.000586117 0 0 OR8H1 219469 broad.mit.edu 37 11 56058178 56058178 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:56058178G>A uc010rje.2 - 0 361 c.361C>T c.(361-363)Cgc>Tgc p.R121C NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GCTACGTAGCGATCATAGGCC 0.438000 85 30 0 0 0.00127121 0 0 ABCC11 85320 broad.mit.edu 37 16 48218385 48218385 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:48218385G>A uc002eff.1 - 21 3574 c.3224C>T c.(3223-3225)tCc>tTc p.S1075F ABCC11_uc002efg.1_Missense_Mutation_p.S1075F|ABCC11_uc002efh.1_Missense_Mutation_p.S1075F|ABCC11_uc010cbg.1_Non-coding_Transcript NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 1075 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GACTTTAAAGGAGTAGGGGGT 0.557000 59 15 0 0 0.000308642 0 0 PDGFRL 5157 broad.mit.edu 37 8 17447069 17447069 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:17447069C>T uc003wxr.3 + 2 593 c.148C>T c.(148-150)Cct>Tct p.P50S NM_006207 NP_006198 Q15198 PGFRL_HUMAN Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA. 50 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) GCCCAAAATTCCTAAAATGAA 0.468000 138 24 0 0 0.00278032 0 0 DNAH5 1767 broad.mit.edu 37 5 13859660 13859660 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:13859660G>A uc003jfd.2 - 29 4893 c.4851C>T c.(4849-4851)aaC>aaT p.N1617N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1617 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) TGTCTGTTGAGTTGGAAAGGT 0.428000 Kartagener syndrome 133 35 0 0 0.000953801 0 0 RBM46 166863 broad.mit.edu 37 4 155749083 155749083 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:155749083G>A uc003ioo.3 + 4 1639 c.1466G>A c.(1465-1467)gGg>gAg p.G489E RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN Homo sapiens RNA binding motif protein 46 (RBM46), mRNA. 489 RNA binding|nucleotide binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) CTCTCTTCTGGGACTCCCAGC 0.418000 257 40 0 0 0.00148497 0 0 F3 2152 broad.mit.edu 37 1 95001606 95001606 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:95001606G>A uc001dqr.3 - 2 548 c.327C>T c.(325-327)tcC>tcT p.S109S F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Non-coding_Transcript|F3_uc001dqs.3_Silent_p.S109S NM_001993 NP_001984 P13726 TF_HUMAN Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA. 109 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) CTGCAGGGTAGGAGAAGACCC 0.522000 175 36 0 0 0.00058488 0 0 OR2G3 81469 broad.mit.edu 37 1 247769216 247769216 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:247769216C>T uc010pyz.2 + 0 329 c.329C>T c.(328-330)aCt>aTt p.T110I NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 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) CTGGGCTCCACTGAATGTATC 0.493000 241 55 0 0 0.000781405 0 0 USP2 9099 broad.mit.edu 37 11 119229960 119229960 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:119229960G>A uc001pwm.4 - 4 1337 c.1042C>T c.(1042-1044)Ccg>Tcg p.P348S USP2_uc001pwl.4_Missense_Mutation_p.P139S|USP2_uc001pwn.4_Missense_Mutation_p.P105S NM_004205 NP_004196 O75604 UBP2_HUMAN Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA. 348 cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity p.A347V(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) ACAAAGCGCGGTGCGTATCTC 0.502000 31 6 0 0 0.000157383 0 0 HHAT 55733 broad.mit.edu 37 1 210796966 210796966 + Missense_Mutation SNP G C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:210796966G>C uc010psr.2 + 9 1450 c.1345G>C c.(1345-1347)Ggg>Cgg p.G449R HHAT_uc009xcx.3_Missense_Mutation_p.G448R|HHAT_uc010psq.2_Missense_Mutation_p.G311R|HHAT_uc009xcy.3_Missense_Mutation_p.G383R|HHAT_uc010pss.2_Missense_Mutation_p.G403R|HHAT_uc010pst.2_Missense_Mutation_p.G385R|HHAT_uc001hhz.4_Missense_Mutation_p.G448R|HHAT_uc021pip.1_Missense_Mutation_p.G448R|HHAT_uc010psu.2_Missense_Mutation_p.G383R|HHAT_uc001hia.4_Missense_Mutation_p.G138R NM_001170587 NP_001164058 Q5VTY9 HHAT_HUMAN Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA. 448 GTP-binding (Probable). multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding p.G448W(2) breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) GGTATTTCTTGGGGGCAATGA 0.488000 260 16 0 0 0.000422831 0 0 C18orf25 147339 broad.mit.edu 37 18 43842988 43842988 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr18:43842988G>A uc002lbw.3 + 4 1498 c.1119G>A c.(1117-1119)tgG>tgA p.W373* C18orf25_uc002lbx.3_Nonsense_Mutation_p.W312* NM_145055 NP_659492 Q96B23 CR025_HUMAN Homo sapiens chromosome 18 open reading frame 25 (C18orf25), transcript variant 1, mRNA. 373 central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 11 CACAGTCATGGACTGCTGTGA 0.502000 58 9 0 0 0.000274275 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55247447 55247447 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:55247447G>A uc002qgu.1 + 7 1135 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K KIR2DL1_uc002qgx.3_5'Flank|KIR2DL1_uc010erw.1_5'Flank NM_153443 NP_703144 Q8N743 KI3L3_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA. 373 E -> D (in allele KIR3DL3*027, allele KIR3DL3*029 and allele KIR3DL3*031). integral to membrane|plasma membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GGACTCTGATGAACAAGACCC 0.537000 135 18 0 0 0.00178596 0 0 RAB34 83871 broad.mit.edu 37 17 27042487 27042487 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:27042487G>A uc010was.1 - 6 590 c.589C>T c.(589-591)Ctg>Ttg p.L197L RAB34_uc002hce.2_Silent_p.L140L|RAB34_uc002hcg.2_Silent_p.L140L|RAB34_uc010wat.1_Silent_p.L197L|RAB34_uc002hch.2_Silent_p.L140L|RAB34_uc010wau.1_Silent_p.L118L|RAB34_uc010wav.1_Silent_p.L198L NM_001144943 NP_114140 Q9BZG1 RAB34_HUMAN Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA. 140 V -> L (in dbSNP:rs12125). protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2) 14 Lung NSC(42;0.00431) GTATGTTCCAGAGATGCCACA 0.493000 66 8 0 0 0.000274275 0 0 C7 730 broad.mit.edu 37 5 40958291 40958291 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:40958291T>C uc003jmh.3 + 10 1531 c.1417T>C c.(1417-1419)Tgt>Cgt p.C473R C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 473 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GGGGACCCATTGTCTGTGCCA 0.502000 83 8 0 0 0.000442599 0 0 DSCAM 1826 broad.mit.edu 37 21 41741076 41741076 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr21:41741076C>T uc002yyq.1 - 3 1057 c.605G>A c.(604-606)cGa>cAa p.R202Q DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 202 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) TCCGGTGTATCGATGCCGCGT 0.433000 73 14 0 0 0.00244969 0 0 PRSS55 203074 broad.mit.edu 37 8 10388838 10388838 + Silent SNP C T T rs35035741 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:10388838C>T uc003wta.3 + 2 421 c.381C>T c.(379-381)aaC>aaT p.N127N AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Silent_p.N127N|PRSS55_uc003wtb.3_Non-coding_Transcript NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA. 127 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity p.N127N(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 TGGGGACCAACGACTTAACTA 0.507000 163 12 0 0 0.00136819 0 0 LRP2 4036 broad.mit.edu 37 2 169995190 169995190 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:169995190T>C uc002ues.3 - 74 13628 c.13415A>G c.(13414-13416)gAa>gGa p.E4472G NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 4472 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity 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) ATTCCCATTTTCAGAGGGCTT 0.413000 42 8 0 0 0.000157383 0 0 ERAP2 64167 broad.mit.edu 37 5 96251465 96251465 + Silent SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:96251465T>C uc003kmq.3 + 17 3441 c.2731T>C c.(2731-2733)Ttg>Ctg p.L911L ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.L911L|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.L860L|ERAP2_uc003kmu.3_Non-coding_Transcript NM_022350 NP_071745 Q6P179 ERAP2_HUMAN Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA. 911 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) CAAGGATAAGTTGCAAGAGGT 0.318000 149 15 0 0 0.00074312 0 0 ZNF705B 100132396 broad.mit.edu 37 8 7807617 7807617 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:7807617G>A uc010lro.1 + 4 484 c.202G>A c.(202-204)Gaa>Aaa p.E68K NM_001193630 NP_001180559 P0CI00 Z705L_HUMAN Homo sapiens zinc finger protein 705D-like (LOC100132396), mRNA. 68 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(2)|lung(2) 4 GCTGTGGTGGGAAGGAAGAGT 0.408000 10 4 0 0 0.000274275 0 0 C9 735 broad.mit.edu 37 5 39285309 39285309 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:39285309C>T uc003jlv.4 - 10 1761 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 558 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CTCTATTTTTCATTGGGGAAC 0.408000 60 16 0 0 0.00229938 0 0 SLFN13 146857 broad.mit.edu 37 17 33769237 33769237 + Missense_Mutation SNP G C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:33769237G>C uc002hjk.1 - 2 1597 c.1267C>G c.(1267-1269)Cta>Gta p.L423V SLFN13_uc010wch.1_Missense_Mutation_p.L423V|SLFN13_uc002hjl.2_Missense_Mutation_p.L423V|SLFN13_uc002hjm.2_Missense_Mutation_p.L92V|SLFN13_uc010ctt.2_Missense_Mutation_p.L105V NM_144682 NP_653283 Q68D06 SLN13_HUMAN Homo sapiens schlafen family member 13 (SLFN13), mRNA. 423 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AACTCCTTTAGTCCTTCATGC 0.463000 57 7 0 0 0.000274275 0 0 PRB2 653247 broad.mit.edu 37 12 11546119 11546119 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:11546119C>T uc010shk.1 - 2 928 c.893G>A c.(892-894)cGa>cAa p.R298Q NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. 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) TGGAGGAGATCGAGAACTTCG 0.612000 250 30 0 0 0.000814825 0 0 COL5A2 1290 broad.mit.edu 37 2 189927767 189927767 + Missense_Mutation SNP T G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:189927767T>G uc002uqk.3 - 27 2167 c.1892A>C c.(1891-1893)gAa>gCa p.E631A COL5A2_uc010frx.3_Missense_Mutation_p.E207A NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 631 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ATTTCCTGCTTCTCCAGGTTT 0.363000 167 10 0 0 0.00136819 0 0 OR2T10 127069 broad.mit.edu 37 1 248756553 248756553 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:248756553C>T uc010pzn.2 - 0 517 c.517G>A c.(517-519)Gag>Aag p.E173K NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) TGCTGAATCTCATGGGATCTG 0.502000 80 21 0 0 0.00229938 0 0 COL7A1 1294 broad.mit.edu 37 3 48616931 48616931 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:48616931C>T uc003ctz.2 - 58 5254 c.5253G>A c.(5251-5253)cgG>cgA p.R1751R COL7A1_uc021wxp.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1751 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) CTGGGGGTCCCCGAAACCCTT 0.607000 25 6 0 0 0.00198382 0 0 IQCF3 401067 broad.mit.edu 37 3 51864696 51864696 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:51864696C>T uc021wyy.1 + 6 1132 c.344C>T c.(343-345)gCt>gTt p.A115V IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.A115V NM_001085479 NP_001193952 P0C7M6 IQCF3_HUMAN Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA. 115 IQ. p.A115V(1) endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ATGTGCAATGCTCTCTGCTTG 0.547000 80 8 0 0 0.000442599 0 0 MUC17 140453 broad.mit.edu 37 7 100677796 100677796 + Silent SNP A T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:100677796A>T uc003uxp.1 + 2 3152 c.3099A>T c.(3097-3099)ccA>ccT p.P1033P MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1033 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) CCAGCATGCCAACCTCAACTC 0.502000 322 22 0 0 0.000878237 0 0 AMELX 265 broad.mit.edu 37 X 11316686 11316686 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:11316686G>A uc004cus.3 + 5 273 c.205G>A c.(205-207)Gag>Aag p.E69K ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.E55K|AMELX_uc004cuu.3_Missense_Mutation_p.E39K NM_182680 NP_872621 Q99217 AMELX_HUMAN Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA. 55 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 CTATGGTTACGAGCCCATGGG 0.547000 56 6 0 0 0.000157383 0 0 NUDT4 11163 broad.mit.edu 37 12 93793086 93793086 + Silent SNP C A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:93793086C>A uc010sup.2 + 4 875 c.477C>A c.(475-477)tcC>tcA p.S159S NUDT4_uc001tcm.3_Silent_p.S158S|NUDT4_uc001tcn.3_Silent_p.S106S|NUDT4_uc010suq.2_Silent_p.S107S|NUDT4_uc001tco.3_Silent_p.S106S NM_199040 NP_950241 Q9NZJ9 NUDT4_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA. 158 calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding endometrium(2)|kidney(1)|lung(2) 5 CAGTCCCTTCCCTTCCGGATA 0.473000 246 10 1.08611e-07 3.95115e-07 0.000978159 1 0 PTPRB 5787 broad.mit.edu 37 12 70933765 70933765 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:70933765G>A uc001swb.4 - 21 5008 c.4978C>T c.(4978-4980)Cgt>Tgt p.R1660C PTPRB_uc010sto.2_Missense_Mutation_p.R1570C|PTPRB_uc010stp.2_Missense_Mutation_p.R1570C|PTPRB_uc001swc.4_Missense_Mutation_p.R1878C|PTPRB_uc001swa.4_Missense_Mutation_p.R1790C NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1660 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CGATCCCTACGAATGCTCAGA 0.408000 47 5 0 0 0.000602214 0 0 NRG1 3084 broad.mit.edu 37 8 32614018 32614018 + Missense_Mutation SNP C A A rs75779200 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:32614018C>A uc003xiv.2 + 8 1418 c.901C>A c.(901-903)Cca>Aca p.P301T NRG1_uc022ats.1_Missense_Mutation_p.P251T|NRG1_uc011lbf.1_Missense_Mutation_p.P298T|NRG1_uc010lvo.2_Missense_Mutation_p.P298T|NRG1_uc003xiu.2_Missense_Mutation_p.P306T|NRG1_uc003xiw.2_Missense_Mutation_p.P298T|NRG1_uc003xit.2_Missense_Mutation_p.P301T|NRG1_uc010lvr.2_Missense_Mutation_p.P43T|NRG1_uc010lvs.2_Missense_Mutation_p.P43T|NRG1_uc010lvp.2_Missense_Mutation_p.P255T|NRG1_uc010lvq.2_Missense_Mutation_p.P231T|NRG1_uc011lbg.1_Missense_Mutation_p.P147T|NRG1_uc011lbh.1_Missense_Mutation_p.P144T|NRG1_uc003xja.2_Missense_Mutation_p.P112T NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 301 Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCATCCTAACCCACCCCCCGA 0.498000 97 10 0.000978159 0.00351883 0.000978159 1 0 FZD6 8323 broad.mit.edu 37 8 104337156 104337156 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:104337156C>T uc003ylh.3 + 3 1112 c.822C>T c.(820-822)gtC>gtT p.V274V FZD6_uc011lhn.2_Silent_p.V242V|FZD6_uc003ylj.3_Silent_p.V274V|FZD6_uc011lho.2_Intron|FZD6_uc011lhp.2_Silent_p.V219V NM_001164615 NP_001158088 O60353 FZD6_HUMAN Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA. 274 G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) ACACTGTTGTCCTAGGCTCTC 0.423000 50 15 0 0 0.00244969 0 0 PPIC 5480 broad.mit.edu 37 5 122365059 122365059 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:122365059G>A uc003kth.3 - 1 277 c.172C>T c.(172-174)Ctc>Ttc p.L58F PPIC_uc011cwp.1_Missense_Mutation_p.L58F NM_000943 NP_000934 P45877 PPIC_HUMAN Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA. 58 PPIase cyclophilin-type. protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 6 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) TTTCCAAAGAGGCCAATCACA 0.403000 114 25 0 0 0.00106085 0 0 MGAT5 4249 broad.mit.edu 37 2 135076307 135076307 + Missense_Mutation SNP T G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:135076307T>G uc002ttw.4 + 3 715 c.570T>G c.(568-570)agT>agG p.S190R NM_002410 NP_002401 Q09328 MGT5A_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA. 190 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity p.L189L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TTTACCTCAGTGAGGTGAGTA 0.453000 103 7 0 0 0.000157383 0 0 MRC2 9902 broad.mit.edu 37 17 60766270 60766270 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:60766270G>A uc002jad.3 + 22 3685 c.3283G>A c.(3283-3285)Gat>Aat p.D1095N MRC2_uc002jae.3_Missense_Mutation_p.D166N|MRC2_uc002jaf.3_Silent_p.T40T NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 1095 C-type lectin 6. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CCGCTGGGACGATCGGAGCTG 0.672000 47 6 0 0 0.000157383 0 0 CES5A 221223 broad.mit.edu 37 16 55880368 55880368 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:55880368G>A uc021tir.1 - 13 1956 c.1810C>T c.(1810-1812)Cct>Tct p.P604S CES5A_uc002eip.2_Missense_Mutation_p.P575S|CES5A_uc002eio.2_Missense_Mutation_p.P525S|CES5A_uc002eiq.2_Missense_Mutation_p.P336S|CES5A_uc002eir.2_Missense_Mutation_p.P469S NM_001190158 NP_001177087 Q6NT32 EST5A_HUMAN Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA. 575 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 ACTTCTCAAGGAGCACAAAAG 0.468000 65 15 0 0 0.00244969 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503920 140503920 + Silent SNP G A A rs144682616 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:140503920G>A uc003lip.1 + 0 2340 c.2340G>A c.(2338-2340)agG>agA p.R780R NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 780 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) ACACCGGGAGGGAAGTTAAGG 0.448000 45 4 0 0 0.00198382 0 0 OR10G4 390264 broad.mit.edu 37 11 123886812 123886812 + Silent SNP C T T rs3017764 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:123886812C>T uc010sac.2 + 0 531 c.531C>T c.(529-531)ttC>ttT p.F177F NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA. 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 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;0.0401) AGCACTACTTCTGTGACGCAC 0.552000 157 16 0 0 0.000958276 0 0 CDH10 1008 broad.mit.edu 37 5 24535336 24535336 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:24535336G>A uc003jgr.2 - 4 1205 c.699C>T c.(697-699)taC>taT p.Y233Y CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 233 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TGACCACTTGGTATTGCTCTC 0.448000 HNSCC(23;0.051) 78 11 0 0 0.00244969 0 0 USP33 23032 broad.mit.edu 37 1 78191366 78191366 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:78191366G>A uc001dht.3 - 11 1657 c.1310C>T c.(1309-1311)tCg>tTg p.S437L USP33_uc001dhs.3_Missense_Mutation_p.S158L|USP33_uc001dhu.3_Missense_Mutation_p.S406L|USP33_uc001dhv.3_Missense_Mutation_p.S242L|USP33_uc001dhw.3_Missense_Mutation_p.S437L NM_015017 NP_963918 Q8TEY7 UBP33_HUMAN Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA. 437 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process VCB complex|perinuclear region of cytoplasm G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 AGGGCTTGCCGATAAACGTGG 0.403000 67 10 0 0 0.000978159 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393464 145393464 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:145393464C>T uc003lnt.3 + 4 1137 c.899C>T c.(898-900)tCc>tTc p.S300F SH3RF2_uc011dbl.1_Missense_Mutation_p.S300F NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 300 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) GGGCAGTTTTCCATCACAACA 0.577000 74 12 0 0 0.00244969 0 0 MYO18B 84700 broad.mit.edu 37 22 26422903 26422903 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:26422903G>A uc003abz.1 + 42 7213 c.6963G>A c.(6961-6963)ttG>ttA p.L2321L MYO18B_uc003aca.1_Silent_p.L2202L|MYO18B_uc010guy.1_Silent_p.L2203L|MYO18B_uc010guz.1_Silent_p.L2201L|MYO18B_uc011aka.1_Silent_p.L1475L|MYO18B_uc011akb.1_Silent_p.L1834L|MYO18B_uc010gva.1_Silent_p.L304L|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2321 nucleus|sarcomere|unconventional myosin complex ATP binding|actin 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 GTGGTCTCTTGAGGTCCACCA 0.582000 44 13 0 0 0.00244969 0 0 OR2W1 26692 broad.mit.edu 37 6 29012641 29012641 + Nonsense_Mutation SNP G C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:29012641G>C uc003nlw.2 - 0 312 c.312C>G c.(310-312)taC>taG p.Y104* LOC100129636_uc021ytq.1_Intron NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA. 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 CCAACCACATGTAAACATAGA 0.438000 41 11 0 0 0.000673444 0 0 PLCE1 51196 broad.mit.edu 37 10 96018860 96018860 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:96018860C>T uc001kjk.3 + 12 4401 c.3767C>T c.(3766-3768)aCc>aTc p.T1256I PLCE1_uc010qnx.2_Missense_Mutation_p.T1240I|PLCE1_uc001kjm.3_Missense_Mutation_p.T948I NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 1256 Ras protein signal transduction|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|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CCACTCTACACCAACCTGACA 0.473000 114 22 0 0 0.000586117 0 0 MOV10 4343 broad.mit.edu 37 1 113232048 113232048 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:113232048T>C uc001eck.3 + 3 623 c.353T>C c.(352-354)cTt>cCt p.L118P MOV10_uc001ecl.2_Missense_Mutation_p.L118P|MOV10_uc001ecn.3_Missense_Mutation_p.L118P|MOV10_uc001ecm.3_Missense_Mutation_p.L58P|MOV10_uc009wgj.1_Missense_Mutation_p.L58P NM_001130079 NP_066014 Q9HCE1 MOV10_HUMAN Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA. 118 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|RNA binding|helicase activity|protein binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GCTGAGTATCTTCATGGGAAA 0.597000 64 10 0 0 0.00244969 0 0 DAB2IP 153090 broad.mit.edu 37 9 124521267 124521267 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:124521267C>T uc004bln.3 + 4 592 c.523C>T c.(523-525)Ccc>Tcc p.P175S DAB2IP_uc004blo.3_Missense_Mutation_p.P79S NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA. 203 PH. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 AGCGGTGCATCCCAACAAGGT 0.572000 35 5 0 0 0.000602214 0 0 DSPP 1834 broad.mit.edu 37 4 88534086 88534086 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:88534086G>A uc003hqu.3 + 3 868 c.748G>A c.(748-750)Gga>Aga p.G250R NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN Homo sapiens dentin sialophosphoprotein (DSPP), mRNA. 250 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TAGTGGGAATGGAGCAGATGA 0.498000 66 12 0 0 0.000308642 0 0 KIF21B 23046 broad.mit.edu 37 1 200978520 200978520 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:200978520C>T uc001gvs.2 - 1 455 c.138G>A c.(136-138)aaG>aaA p.K46K KIF21B_uc009wzl.2_Silent_p.K46K|KIF21B_uc001gvr.2_Silent_p.K46K|KIF21B_uc010ppn.2_Silent_p.K46K NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 46 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 AGGTGAAGGCCTTGTCCTTCC 0.567000 56 10 0 0 0.000442599 0 0 TMEM219 124446 broad.mit.edu 37 16 29974552 29974552 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:29974552C>T uc002duw.2 + 1 255 c.88C>T c.(88-90)Ctt>Ttt p.L30F BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.L30F|TMEM219_uc010bzk.1_Missense_Mutation_p.L30F|TMEM219_uc010bzl.1_Non-coding_Transcript NM_194280 NP_919256 Q86XT9 TM219_HUMAN Homo sapiens transmembrane protein 219 (TMEM219), transcript variant 2, mRNA. 30 integral to membrane large_intestine(1)|lung(1)|prostate(2) 4 CCTGCTGCTCCTTGGCCTCTC 0.657000 65 18 0 0 0.00074312 0 0 C1orf38 9473 broad.mit.edu 37 1 28209071 28209071 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:28209071G>A uc001bpc.4 + 3 1264 c.1236G>A c.(1234-1236)gaG>gaA p.E412E C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Silent_p.E216E|C1orf38_uc010ofo.2_Silent_p.E283E NM_001105556 NP_001099026 Q5TEJ8 THMS2_HUMAN Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA. 412 CABIT 2. cell adhesion|inflammatory response endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) AGTGCAAAGAGGAGGCAGAGA 0.627000 42 4 0 0 0.00024832 0 0 XIST 7503 broad.mit.edu 37 X 73065748 73065748 + RNA SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:73065748G>A uc004ebm.1 - 0 c.6841C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. GGGCCTTGGTGATCAGCACCC 0.507000 57 28 0 0 0.00209593 0 0 WDFY3 23001 broad.mit.edu 37 4 85731442 85731442 + Missense_Mutation SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:85731442A>G uc003hpd.3 - 13 2351 c.1943T>C c.(1942-1944)gTt>gCt p.V648A WDFY3_uc003hpf.3_Missense_Mutation_p.V648A NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 648 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AAATCCTCCAACTTTCCTAAA 0.418000 39 11 0 0 0.00136819 0 0 PMS2P4 5382 broad.mit.edu 37 7 66760755 66760755 + RNA SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:66760755C>T uc003tvo.2 - 3 c.305G>A PMS2P4_uc003tvq.3_Non-coding_Transcript|PMS2P4_uc003tvr.4_Non-coding_Transcript|PMS2P4_uc003tvs.4_Non-coding_Transcript Homo sapiens postmeiotic segregation increased 2 pseudogene 4 (PMS2P4), non-coding RNA. TCCCAACCTTCGCCGATGCGT 0.517000 100 8 0 0 0.000442599 0 0 CSMD2 114784 broad.mit.edu 37 1 34033312 34033312 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:34033312T>C uc001bxm.1 - 52 8438 c.8261A>G c.(8260-8262)aAc>aGc p.N2754S CSMD2_uc001bxn.1_Missense_Mutation_p.N2731S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2731 Sushi 18. 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) GTAGCTGTAGTTCTCCCCATT 0.557000 30 6 0 0 0.00198382 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50683192 50683192 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:50683192C>T uc003day.2 + 8 1322 c.680C>T c.(679-681)tCc>tTc p.S227F MAPKAPK3_uc003daz.2_Missense_Mutation_p.S227F|MAPKAPK3_uc003dba.2_Missense_Mutation_p.S227F|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.S227F NM_001243926 NP_001230855 Q16644 MAPK3_HUMAN Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA. 227 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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 serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GACATGTGGTCCCTGGGTGTC 0.597000 57 8 0 0 0.000274275 0 0 EPHB1 2047 broad.mit.edu 37 3 134670597 134670597 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:134670597C>T uc003eqt.3 + 2 883 c.508C>T c.(508-510)Cgg>Tgg p.R170W EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 170 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.R170L(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GCCTCTTACTCGGAATGGTTT 0.463000 217 26 0 0 0.0024448 0 0 MPP3 4356 broad.mit.edu 37 17 41879100 41879100 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:41879100G>A uc002ieh.3 - 17 2063 c.1802C>T c.(1801-1803)aCt>aTt p.T601I MPP3_uc002iei.4_Missense_Mutation_p.T576I|MPP3_uc002iej.3_Non-coding_Transcript NM_001932 NP_001923 Q13368 MPP3_HUMAN Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA. 576 signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) TACCCAGTGAGTGTCCTTGCT 0.532000 85 9 0 0 0.000978159 0 0 CD1D 912 broad.mit.edu 37 1 158151902 158151902 + Nonsense_Mutation SNP C T T rs149673076 by1000genomes TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:158151902C>T uc001frr.3 + 3 908 c.409C>T c.(409-411)Caa>Taa p.Q137* CD1D_uc009wsr.1_Nonsense_Mutation_p.Q137*|CD1D_uc009wss.3_Nonsense_Mutation_p.Q137*|CD1D_uc009wst.1_Nonsense_Mutation_p.Q33* NM_001766 NP_001757 P15813 CD1D_HUMAN Homo sapiens CD1d molecule (CD1D), mRNA. 137 T cell selection|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 endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding p.Q137H(2) endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) TGTAGCATTTCAAGGAAAAGA 0.507000 204 28 0 0 0.000720815 0 0 PRRC2A 7916 broad.mit.edu 37 6 31603424 31603424 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:31603424C>T uc003nvb.4 + 23 5688 c.5439C>T c.(5437-5439)tcC>tcT p.S1813S PRRC2A_uc003nvc.4_Silent_p.S1813S NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 1813 cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 AGCCACAATCCAAGAACCTGG 0.597000 43 17 0 0 0.000566183 0 0 ZNF570 148268 broad.mit.edu 37 19 37975746 37975746 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:37975746C>T uc010efl.1 + 5 1509 c.1390C>T c.(1390-1392)Cat>Tat p.H464Y ZNF570_uc002ogk.1_Missense_Mutation_p.H408Y|ZNF570_uc010xtr.1_Missense_Mutation_p.H205Y NM_144694 NP_653295 Q96NI8 ZN570_HUMAN Homo sapiens zinc finger protein 570 (ZNF570), mRNA. 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAGAGAATTCATACTGGAGA 0.423000 72 15 0 0 0.000308642 0 0 FHL5 9457 broad.mit.edu 37 6 97058559 97058559 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:97058559G>A uc003pos.2 + 5 1032 c.616G>A c.(616-618)Gac>Aac p.D206N FHL5_uc003pot.2_Missense_Mutation_p.D206N NM_020482 NP_065228 Q5TD97 FHL5_HUMAN Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA. 206 LIM zinc-binding 3. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) GTCCAGAGACGACTATCCATT 0.433000 101 24 0 0 0.00106085 0 0 EFEMP1 2202 broad.mit.edu 37 2 56097910 56097910 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:56097910G>A uc002rzi.3 - 10 1766 c.1265C>T c.(1264-1266)aCc>aTc p.T422I EFEMP1_uc002rzj.3_Missense_Mutation_p.T422I|EFEMP1_uc010ypc.2_Missense_Mutation_p.T284I NM_001039348 NP_001034438 Q12805 FBLN3_HUMAN Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA. 422 Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity p.N421N(1) NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AGTATTGATGGTGTTGGCATA 0.418000 71 12 0 0 0.000978159 0 0 SLC6A14 11254 broad.mit.edu 37 X 115574866 115574866 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:115574866G>A uc004eqi.3 + 4 695 c.564G>A c.(562-564)atG>atA p.M188I SLC6A14_uc011mtm.2_Non-coding_Transcript NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 188 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TCATCCAAATGAATAAAAGCT 0.353000 20 19 0 0 0.00074312 0 0 FGF16 8823 broad.mit.edu 37 X 76709678 76709678 + Missense_Mutation SNP G C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:76709678G>C uc011mqp.2 + 0 32 c.32G>C c.(31-33)gGg>gCg p.G11A NM_003868 NP_003859 O43320 FGF16_HUMAN Homo sapiens fibroblast growth factor 16 (FGF16), mRNA. 102 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity NS(1)|breast(1)|lung(2) 4 CTGGCTGTGGGGCTGATCAGC 0.453000 16 4 0 0 0.00024832 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93139326 93139326 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:93139326G>A uc001tcj.2 + 4 504 c.274G>A c.(274-276)Gag>Aag p.E92K NM_001004330 NP_001004330 Q6ZR37 PKHG7_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA. 92 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 CTTTTATCTTGAGAGCCTGAG 0.403000 195 26 0 0 0.00178596 0 0 OR5M11 219487 broad.mit.edu 37 11 56310098 56310098 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:56310098G>A uc010rjl.2 - 0 636 c.636C>T c.(634-636)atC>atT p.I212I OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 ACACCAAGACGATGGTGAGGG 0.502000 46 7 0 0 0.00198382 0 0 DAB2 1601 broad.mit.edu 37 5 39383359 39383359 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:39383359G>A uc003jlx.3 - 9 1233 c.702C>T c.(700-702)atC>atT p.I234I DAB2_uc003jlw.3_Silent_p.I213I NM_001343 NP_001334 P98082 DAB2_HUMAN Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA. 234 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent clathrin coated vesicle membrane|coated pit protein C-terminus binding p.D233H(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CCACTAACAGGATATCTTTGC 0.348000 100 20 0 0 0.00278032 0 0 SLC4A8 9498 broad.mit.edu 37 12 51888782 51888782 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:51888782C>T uc001rys.1 + 20 3001 c.2823C>T c.(2821-2823)ttC>ttT p.F941F SLC4A8_uc001rym.3_Silent_p.F888F|SLC4A8_uc001ryn.3_Silent_p.F888F|SLC4A8_uc001ryo.2_Silent_p.F888F|SLC4A8_uc010snj.2_Silent_p.F968F|SLC4A8_uc001ryr.3_Silent_p.F941F NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 941 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) AGCCAGATTTCATCTACCTGC 0.527000 94 14 0 0 0.000422831 0 0 TGM1 7051 broad.mit.edu 37 14 24718595 24718595 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr14:24718595C>T uc001wod.3 - 14 2502 c.2378G>A c.(2377-2379)gGg>gAg p.G793E TGM1_uc010tog.2_Missense_Mutation_p.G351E NM_000359 NP_000350 P22735 TGM1_HUMAN Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA. 793 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) GAAGAAGCCCCCATCCCCAGG 0.632000 51 5 0 0 0.00116845 0 0 BOC 91653 broad.mit.edu 37 3 112987254 112987254 + Missense_Mutation SNP G A A rs149634735 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:112987254G>A uc003dzx.3 + 4 1106 c.485G>A c.(484-486)cGg>cAg p.R162Q BOC_uc010hqi.3_Missense_Mutation_p.R162Q|BOC_uc003dzy.3_Missense_Mutation_p.R162Q|BOC_uc003dzz.3_Missense_Mutation_p.R162Q|BOC_uc003eab.3_5'Flank NM_033254 NP_150279 Q9BWV1 BOC_HUMAN Homo sapiens Boc homolog (mouse) (BOC), mRNA. 162 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GCCCAGGTCCGGTACAGCGTC 0.592000 21 5 0 0 0.000157383 0 0 TMEM186 25880 broad.mit.edu 37 16 8890377 8890377 + Missense_Mutation SNP C G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:8890377C>G uc002cze.3 - 1 108 c.74G>C c.(73-75)tGg>tCg p.W25S PMM2_uc002czf.4_5'Flank|PMM2_uc010uyf.2_5'Flank|PMM2_uc010uyg.2_5'Flank|PMM2_uc010uyh.2_5'Flank|PMM2_uc010buj.3_5'Flank|PMM2_uc010uyi.2_5'Flank|PMM2_uc010uye.1_5'Flank NM_015421 NP_056236 Q96B77 TM186_HUMAN Homo sapiens transmembrane protein 186 (TMEM186), mRNA. 25 integral to membrane|mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 ACTGCAGCACCACAGCCCATG 0.552000 65 4 0 0 0.00024832 0 0 SCN5A 6331 broad.mit.edu 37 3 38629053 38629053 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:38629053C>T uc021wvo.1 - 13 2326 c.2274G>A c.(2272-2274)ggG>ggA p.G758G SCN5A_uc021wvk.1_Silent_p.G758G|SCN5A_uc021wvl.1_Silent_p.G758G|SCN5A_uc021wvm.1_Silent_p.G758G|SCN5A_uc021wvn.1_Silent_p.G758G|SCN5A_uc021wvp.1_Silent_p.G758G|SCN5A_uc021wvq.1_Silent_p.G758G|SCN5A_uc021wvr.1_Silent_p.G758G|SCN5A_uc021wvs.1_Silent_p.G758G|SCN5A_uc021wvt.1_Silent_p.G758G|SCN5A_uc021wvu.1_Silent_p.G758G|SCN5A_uc021wvv.1_Silent_p.G758G|SCN5A_uc021wvj.1_Silent_p.G624G|SCN5A_uc021wvi.1_Silent_p.G624G|SCN5A_uc021wvw.1_Silent_p.G369G NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 758 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTGTGAAAATCCCTGTGAAGA 0.537000 38 11 0 0 0.00244969 0 0 WDR17 116966 broad.mit.edu 37 4 177069353 177069353 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:177069353G>A uc003iuj.3 + 13 2139 c.1836G>A c.(1834-1836)gtG>gtA p.V612V WDR17_uc003ium.4_Silent_p.V588V|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_5'Flank NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA. 612 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTGCACCTGTGAGAGGATTAA 0.408000 173 11 0 0 0.000422831 0 0 ARNT 405 broad.mit.edu 37 1 150811929 150811929 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:150811929G>A uc001evr.2 - 5 675 c.474C>T c.(472-474)ttC>ttT p.F158F ARNT_uc001evs.2_Silent_p.F143F|ARNT_uc009wmd.2_Silent_p.F143F|ARNT_uc009wmb.2_Silent_p.F149F|ARNT_uc009wmc.2_Silent_p.F158F|ARNT_uc009wme.2_Silent_p.F158F|ARNT_uc010pcl.2_Silent_p.F142F NM_001668 NP_001659 P27540 ARNT_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA. 158 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GATCAGTGAGGAAAGACGGCT 0.453000 T ETV6 AML 151 14 0 0 0.000308642 0 0 DMBT1 1755 broad.mit.edu 37 10 124399818 124399818 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:124399818C>T uc001lgk.1 + 51 6924 c.6818C>T c.(6817-6819)cCt>cTt p.P2273L DMBT1_uc001lgl.1_Missense_Mutation_p.P2263L|DMBT1_uc001lgm.1_Missense_Mutation_p.P1645L|DMBT1_uc021qaf.1_Missense_Mutation_p.P2273L|DMBT1_uc021qag.1_Missense_Mutation_p.P2263L|DMBT1_uc021qah.1_Missense_Mutation_p.P1645L|DMBT1_uc009xzz.1_Missense_Mutation_p.P2272L|DMBT1_uc010qtx.1_Missense_Mutation_p.P993L|DMBT1_uc009yab.1_Missense_Mutation_p.P976L|DMBT1_uc009yac.1_Missense_Mutation_p.P567L NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2273 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACCAGCCGCCCTTACTACGTG 0.473000 92 22 0 0 0.00229938 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716343 153716343 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:153716343G>A uc022cig.1 - 0 937 c.937C>T c.(937-939)Cat>Tat p.H313Y UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.H284Y|SLC10A3_uc004flq.3_Missense_Mutation_p.H313Y|SLC10A3_uc004flp.3_Missense_Mutation_p.H313Y NM_019848 NP_062822 P09131 P3_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA. 313 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGCGTCTCATGGATGCTGAGC 0.597000 28 18 0 0 0.000958276 0 0 ANAPC1 64682 broad.mit.edu 37 2 112582574 112582574 + Silent SNP A C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:112582574A>C uc002thi.3 - 23 3028 c.2781T>G c.(2779-2781)gcT>gcG p.A927A NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 927 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 CCAATCTTTCAGCTAGACTAG 0.373000 225 19 0 0 0.00278032 0 0 HIST1H1D 3007 broad.mit.edu 37 6 26234911 26234911 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:26234911C>T uc003nhd.3 - 0 306 c.251G>A c.(250-252)gGc>gAc p.G84D NM_005320 NP_005311 P16402 H13_HUMAN Homo sapiens histone cluster 1, H1d (HIST1H1D), mRNA. 84 H15. nucleosome assembly nucleosome|nucleus DNA binding breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) GCTCTTGAGGCCAAGCTTGAT 0.547000 130 14 0 0 0.000422831 0 0 LDLRAD2 401944 broad.mit.edu 37 1 22142479 22142479 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:22142479C>T uc001bfg.1 + 2 742 c.555C>T c.(553-555)atC>atT p.I185I NM_001013693 NP_001013715 Q5SZI1 LRAD2_HUMAN Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA. 185 LDL-receptor class A. integral to membrane receptor activity endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) GCAGGTGCATCCCCTCAAGCC 0.627000 81 7 0 0 0.000157383 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-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) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 164 35 1.04594e-18 3.85566e-18 0.00128727 1 0 PRR21 643905 broad.mit.edu 37 2 240981461 240981461 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:240981461G>A uc010zod.2 - 0 939 c.939C>T c.(937-939)tcC>tcT p.S313S NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN Homo sapiens proline rich 21 (PRR21), mRNA. 313 Pro-rich. NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 GAAGAGGCATGGACGAAGGGC 0.607000 100 21 0 0 0.00047179 0 0 POF1B 79983 broad.mit.edu 37 X 84561251 84561251 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:84561251C>T uc004eer.2 - 11 1399 c.1253G>A c.(1252-1254)aGa>aAa p.R418K POF1B_uc004ees.3_Missense_Mutation_p.R418K NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 418 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TTCTTTTAGTCTGTATTCCAT 0.338000 43 19 0 0 0.00074312 0 0 abParts 0 broad.mit.edu 37 2 90008044 90008044 + RNA SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:90008044C>T uc010yts.2 + 14 c.2332C>T Parts of antibodies, mostly variable regions. TCAGGGGGTCCCATCTCGGTT 0.473000 71 25 0 0 0.00106085 0 0 PTPRB 5787 broad.mit.edu 37 12 71029486 71029486 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:71029486C>T uc001swc.4 - 1 461 c.416G>A c.(415-417)gGa>gAa p.G139E PTPRB_uc001swa.4_Missense_Mutation_p.G139E|PTPRB_uc001swd.4_Missense_Mutation_p.G138E|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.G139E NM_001109754 NP_001103224 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA. 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GACCAGTTTTCCCTCCTTGTT 0.413000 64 5 0 0 0.00198382 0 0 CYFIP1 23191 broad.mit.edu 37 15 22933650 22933650 + Missense_Mutation SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:22933650T>C uc001yus.3 + 6 763 c.659T>C c.(658-660)aTc>aCc p.I220T CYFIP1_uc001yut.3_Missense_Mutation_p.I220T|CYFIP1_uc010aya.1_Missense_Mutation_p.I248T NM_014608 NP_055423 Q7L576 CYFP1_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA. 220 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome Rac GTPase binding|actin filament binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CATAACAAGATCACACAGGTA 0.522000 66 6 0 0 0.000157383 0 0 MYO18B 84700 broad.mit.edu 37 22 26423606 26423606 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:26423606G>A uc003abz.1 + 42 7916 c.7666G>A c.(7666-7668)Gat>Aat p.D2556N MYO18B_uc003aca.1_Missense_Mutation_p.D2437N|MYO18B_uc010guy.1_Missense_Mutation_p.D2438N|MYO18B_uc010guz.1_Missense_Mutation_p.D2436N|MYO18B_uc011aka.1_Missense_Mutation_p.D1710N|MYO18B_uc011akb.1_Missense_Mutation_p.D2069N|MYO18B_uc010gva.1_Missense_Mutation_p.D539N|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2556 nucleus|sarcomere|unconventional myosin complex ATP binding|actin 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 GAAAGACGACGATGTTGCGAG 0.552000 18 4 0 0 0.000602214 0 0 DPYD 1806 broad.mit.edu 37 1 98039396 98039396 + Missense_Mutation SNP T A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:98039396T>A uc001drv.3 - 10 1396 c.1259A>T c.(1258-1260)aAt>aTt p.N420I NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 420 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion 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) TTCATCTTCATTCCATTTTCC 0.453000 120 16 0 0 0.000566183 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948485 82948485 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:82948485C>T uc003kim.3 - 1 330 c.259G>A c.(259-261)Gat>Aat p.D87N HAPLN1_uc003kin.3_Missense_Mutation_p.D87N NM_001884 NP_001875 P10915 HPLN1_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. 87 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) TTGAGGTAATCCGAAGTTAGC 0.433000 95 15 0 0 0.000566183 0 0 FETUB 26998 broad.mit.edu 37 3 186358421 186358421 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:186358421G>A uc010hyq.3 + 1 433 c.172G>A c.(172-174)Gat>Aat p.D58N FETUB_uc011brz.2_Intron|FETUB_uc003fqn.3_Missense_Mutation_p.D58N|FETUB_uc010hyr.3_Missense_Mutation_p.D58N|FETUB_uc010hys.3_5'UTR|FETUB_uc003fqp.4_Missense_Mutation_p.D58N NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN Homo sapiens fetuin B (FETUB), mRNA. 58 Cystatin fetuin-B-type 1. extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) AGACAGAAAGGATGGCTATGT 0.582000 164 15 0 0 0.000566183 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55354350 55354350 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:55354350C>T uc002qhm.1 + 5 714 c.668C>T c.(667-669)cCc>cTc p.P223L KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Intron|KIR3DL2_uc002qhn.1_Intron NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 326 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) TGGCCTTCACCCACTGAACCA 0.493000 173 25 0 0 0.00283554 0 0 TBC1D21 161514 broad.mit.edu 37 15 74173842 74173842 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:74173842G>A uc002avz.3 + 1 246 c.163G>A c.(163-165)Gaa>Aaa p.E55K TBC1D21_uc010ulc.2_Intron NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA. 55 intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 TAACATCCTGGAAAGGGTGGG 0.542000 55 12 0 0 0.00244969 0 0 FLNB 2317 broad.mit.edu 37 3 58095323 58095323 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:58095323C>T uc003djj.2 + 14 2385 c.2220C>T c.(2218-2220)agC>agT p.S740S FLNB_uc010hne.2_Silent_p.S740S|FLNB_uc003djk.2_Silent_p.S740S|FLNB_uc010hnf.2_Silent_p.S740S|FLNB_uc003djl.2_Silent_p.S571S|FLNB_uc003djm.2_Silent_p.S571S NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 740 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGCAAGGTAGCCATCCTCAGA 0.468000 94 7 0 0 0.000157383 0 0 ZBBX 79740 broad.mit.edu 37 3 166960340 166960340 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:166960340G>A uc011bpc.2 - 20 2683 c.2346C>T c.(2344-2346)ttC>ttT p.F782F ZBBX_uc003feq.3_Silent_p.F714F|ZBBX_uc003fep.3_Silent_p.F743F NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 743 Poly-Glu. intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AGGTCTTAAGGAAATCTGTGG 0.368000 71 5 0 0 0.000602214 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142162325 142162325 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:142162325G>A uc011krw.2 - 0 83 c.39C>T c.(37-39)ctC>ctT p.L13L TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc022ani.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CTGCCCACAGGAGAGGAAAGG 0.582000 41 5 0 0 0.00198382 0 0 OR13C8 138802 broad.mit.edu 37 9 107331487 107331487 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:107331487C>T uc011lvo.2 + 0 39 c.39C>T c.(37-39)ttC>ttT p.F13F NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CAGAATTTTTCCTGGTAGGGC 0.413000 86 14 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179424718 179424718 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:179424718C>T uc021vsy.1 - 274 78662 c.78437G>A c.(78436-78438)gGa>gAa p.G26146E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G19841E|TTN_uc021vta.1_Missense_Mutation_p.G19774E|TTN_uc021vtb.1_Missense_Mutation_p.G19649E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27073 Fibronectin type-III 90. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E26146K(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) TGTTGTTAGTCCGCTTATTGT 0.413000 57 5 0 0 0.000602214 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84922916 84922916 + Silent SNP G T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:84922916G>T uc010voh.1 + 13 1613 c.1386G>T c.(1384-1386)gtG>gtT p.V462V CRISPLD2_uc010vog.1_Intron NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA. 462 LCCL 2. extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 TGATGCCCGTGGATAAAAAGA 0.562000 85 12 1.41608e-15 5.2102e-15 0.00185496 1 0 NBPF16 728936 broad.mit.edu 37 1 148754896 148754896 + Missense_Mutation SNP T G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:148754896T>G uc010pba.1 + 13 1743 c.1552T>G c.(1552-1554)Tat>Gat p.Y518D NBPF16_uc009wkt.1_Missense_Mutation_p.Y298D NM_001102663 NP_001096133 Homo sapiens neuroblastoma breakpoint family, member 16 (NBPF16), mRNA. breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 all_hematologic(923;0.032) ACTGGATAGATATTATTCAAC 0.463000 9 4 0 0 0.00024832 0 0 PZP 5858 broad.mit.edu 37 12 9353640 9353640 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:9353640C>T uc001qvl.3 - 5 547 c.518G>A c.(517-519)cGa>cAa p.R173Q PZP_uc009zgl.3_Missense_Mutation_p.R42Q NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. 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 TTGTGCAATTCGATTTCTTCT 0.443000 86 8 0 0 0.000157383 0 0 SLC38A4 55089 broad.mit.edu 37 12 47186965 47186965 + Splice_Site SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:47186965T>C uc001rpi.2 - 3 288 c.-111_splice c.e3-1 SLC38A4_uc001rpj.2_Splice_Site|SLC38A4_uc009zkl.2_Splice_Site NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 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) GAACACTCTGTTCTGCAAACA 0.348000 23 4 0 0 0.00024832 0 0 SNRPN 6638 broad.mit.edu 37 15 25468337 25468337 + Splice_Site SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:25468337G>A uc001yzw.1 + 3 c.885_splice c.e3+1 SNORD115-15_uc001yzq.1_Intron|SNORD115-11_uc001yzx.1_5'Flank|SNORD115-30_uc001yzy.1_5'Flank P63162 RSMN_HUMAN Homo sapiens clone Rt-15 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex RNA binding|identical protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) ACTGAGCTGTGGTGAGCACAT 0.567000 Prader-Willi syndrome 68 10 0 0 0.000442599 0 0 SWT1 54823 broad.mit.edu 37 1 185143999 185143999 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:185143999C>T uc001grg.4 + 4 834 c.720C>T c.(718-720)tcC>tcT p.S240S SWT1_uc001grh.4_Silent_p.S240S NM_001105518 NP_060143 Q5T5J6 SWT1_HUMAN Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA. 240 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 CTATAAAATCCCGTGACACCC 0.368000 145 26 0 0 0.00106085 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059398 152059398 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:152059398G>A uc001ezo.1 - 2 825 c.760C>T c.(760-762)Cag>Tag p.Q254* NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 254 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) TTTCCTTCCTGTTCTCCAAAC 0.443000 188 14 0 0 0.00074312 0 0 PLK2 10769 broad.mit.edu 37 5 57751416 57751416 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:57751416G>A uc003jrn.3 - 10 1755 c.1575C>T c.(1573-1575)gtC>gtT p.V525V PLK2_uc021xyx.1_Silent_p.V511V NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA. 525 POLO box 1. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) AAAGGACACCGACGGTGTGGT 0.438000 31 7 0 0 0.000157383 0 0 IGFL2 147920 broad.mit.edu 37 19 46664099 46664099 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:46664099C>T uc002peb.3 + 3 626 c.335C>T c.(334-336)tCc>tTc p.S112F IGFL2_uc010xxv.2_Missense_Mutation_p.S101F NM_001002915 NP_001002915 Q6UWQ7 IGFL2_HUMAN Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA. 101 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) GGTGTGAATTCCCAGTGCCAC 0.562000 73 8 0 0 0.000157383 0 0 PTPN13 5783 broad.mit.edu 37 4 87679897 87679897 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:87679897C>T uc003hpz.3 + 21 3860 c.3380C>T c.(3379-3381)gCc>gTc p.A1127V PTPN13_uc003hpy.3_Missense_Mutation_p.A1127V|PTPN13_uc003hqa.3_Missense_Mutation_p.A1108V|PTPN13_uc003hqb.3_Missense_Mutation_p.A936V NM_080683 NP_542414 Q12923 PTN13_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA. 1127 PDZ 1. 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) AGTTCAGTTGCCCCTGGAGGA 0.378000 175 50 0 0 0.000781405 0 0 MEGF8 1954 broad.mit.edu 37 19 42848171 42848171 + Silent SNP T C C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:42848171T>C uc002otl.4 + 9 2369 c.1734T>C c.(1732-1734)agT>agC p.S578S MEGF8_uc002otm.4_Silent_p.S119S NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 578 PSI 1. 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) CGGAATGCAGTTGGTGCCAAG 0.627000 44 5 0 0 0.00116845 0 0 AHDC1 27245 broad.mit.edu 37 1 27876232 27876232 + Silent SNP G T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:27876232G>T uc021ojw.1 - 0 2395 c.2395C>A c.(2395-2397)Cgg>Agg p.R799R AHDC1_uc009vsy.3_Silent_p.R799R|AHDC1_uc009vsz.1_Silent_p.R799R NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA. 799 Gly-rich. 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) GCAAAGGCCCGGGCCTCGGTC 0.682000 82 19 2.94398e-08 1.073e-07 0.000958276 1 0 COL6A6 131873 broad.mit.edu 37 3 130381032 130381032 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:130381032G>A uc010htl.3 + 33 6413 c.6382G>A c.(6382-6384)Gaa>Aaa p.E2128K COL6A6_uc003eni.4_Missense_Mutation_p.E227K NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 2128 Nonhelical region.|VWFA 9. 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 GGATGACAAGGAACTGGAGGA 0.478000 107 18 0 0 0.000566183 0 0 RYR2 6262 broad.mit.edu 37 1 237660020 237660020 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:237660020C>T uc001hyl.1 + 19 2291 c.2171C>T c.(2170-2172)tCc>tTc p.S724F NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 724 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATCTCTTCTCCTATGGATTT 0.493000 170 26 0 0 0.000878237 0 0 SLC7A9 11136 broad.mit.edu 37 19 33333197 33333197 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:33333197G>A uc002ntv.4 - 10 1218 c.1101C>T c.(1099-1101)atC>atT p.I367I SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Silent_p.I367I|SLC7A9_uc021usa.1_Silent_p.I367I|SLC7A9_uc002ntw.4_Silent_p.I158I NM_001126335 NP_055085 P82251 BAT1_HUMAN Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA. 367 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) TGTCACCAGGGATGATATAAA 0.393000 69 21 0 0 0.00278032 0 0 NRG3 10718 broad.mit.edu 37 10 84744859 84744859 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:84744859C>T uc021pvc.1 + 9 1688 c.1661C>T c.(1660-1662)tCa>tTa p.S554L NRG3_uc010qlz.1_Missense_Mutation_p.S529L|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.S530L|NRG3_uc001kcp.2_Missense_Mutation_p.S333L|NRG3_uc001kcq.2_Missense_Mutation_p.S180L|NRG3_uc021pvd.1_Missense_Mutation_p.S309L|NRG3_uc021pve.1_Missense_Mutation_p.S334L|NRG3_uc021pvf.1_Missense_Mutation_p.S180L|NRG3_uc021pvg.1_Missense_Mutation_p.S358L|NRG3_uc021pvh.1_Missense_Mutation_p.S142L|NRG3_uc021pvi.1_Missense_Mutation_p.S360L|NRG3_uc021pvk.1_Missense_Mutation_p.S70L|NRG3_uc001kcr.2_Missense_Mutation_p.S204L|NRG3_uc021pvl.1_Missense_Mutation_p.S180L NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 554 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TTCAGGTATTCATCCAGTGGT 0.393000 205 21 0 0 0.00188189 0 0 KAT8 84148 broad.mit.edu 37 16 31141410 31141410 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:31141410C>T uc002eay.3 + 6 862 c.844C>T c.(844-846)Ccg>Tcg p.P282S KAT8_uc002eax.3_Missense_Mutation_p.P282S|KAT8_uc002eaz.3_Missense_Mutation_p.P124S|KAT8_uc002eba.3_Missense_Mutation_p.P66S NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA. 282 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding TGACGTGGAGCCGTTCGTCTT 0.562000 219 49 0 0 0.000781405 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482452 152482452 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:152482452G>A uc022chs.1 - 0 559 c.559C>T c.(559-561)Cag>Tag p.Q187* MAGEA1_uc004fhf.2_Nonsense_Mutation_p.Q187* NM_004988 NP_004979 P43355 MAGA1_HUMAN Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA. 187 MAGE. cytoplasm|plasma membrane breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCATGATCTGATTATCACCC 0.542000 54 25 0 0 0.000720815 0 0 HHLA2 11148 broad.mit.edu 37 3 108072453 108072453 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:108072453G>A uc003dwz.3 + 3 658 c.244G>A c.(244-246)Gaa>Aaa p.E82K HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Missense_Mutation_p.E82K|HHLA2_uc003dwy.4_Missense_Mutation_p.E82K NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 82 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TGACCATTTGGAAAGCCAAGA 0.413000 54 6 0 0 0.000157383 0 0 FAM83A 84985 broad.mit.edu 37 8 124206364 124206364 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:124206364G>A uc003ypv.3 + 3 2763 c.749G>A c.(748-750)aGa>aAa p.R250K FAM83A_uc003ypw.3_Missense_Mutation_p.R250K|FAM83A_uc003ypx.3_Missense_Mutation_p.R250K|FAM83A_uc003ypy.3_Missense_Mutation_p.R194K|FAM83A_uc003ypz.3_Missense_Mutation_p.R250K NM_032899 NP_116288 Q86UY5 FA83A_HUMAN Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA. 250 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TCGGACTGGAGATTTGTCCTG 0.512000 85 13 0 0 0.00185496 0 0 OPCML 4978 broad.mit.edu 37 11 132290109 132290109 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:132290109G>A uc010sck.2 - 7 1093 c.1043C>T c.(1042-1044)gCc>gTc p.A348V OPCML_uc001qgu.3_Missense_Mutation_p.A332V|OPCML_uc001qgs.3_Missense_Mutation_p.A339V|OPCML_uc001qgt.3_Missense_Mutation_p.A338V|OPCML_uc010scl.2_Missense_Mutation_p.A298V NM_002545 NP_002536 Q14982 OPCM_HUMAN Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA. 339 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GAAGAAGTGGGCTAAGAGGGT 0.502000 79 15 0 0 0.000958276 0 0 SCN10A 6336 broad.mit.edu 37 3 38798333 38798333 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:38798333C>T uc003ciq.3 - 8 1122 c.1122G>A c.(1120-1122)atG>atA p.M374I NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 374 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) CAAAAAAGATCATATAGATTT 0.473000 108 10 0 0 0.000442599 0 0 CACNG2 10369 broad.mit.edu 37 22 36960604 36960604 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:36960604C>T uc003aps.2 - 3 835 c.766G>A c.(766-768)Ggc>Agc p.G256S NM_006078 NP_006069 Q9Y698 CCG2_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA. 256 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 CCCTTGATGCCCACGGGGGAG 0.682000 105 28 0 0 0.00178596 0 0 CMTM8 152189 broad.mit.edu 37 3 32398964 32398964 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:32398964C>T uc003cex.3 + 1 541 c.247C>T c.(247-249)Ctc>Ttc p.L83F CMTM8_uc010hfu.3_Intron NM_178868 NP_849199 Q8IZV2 CKLF8_HUMAN Homo sapiens CKLF-like MARVEL transmembrane domain containing 8 (CMTM8), mRNA. 83 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 TTACTGGGTCCTCACCGTCTT 0.517000 95 10 0 0 0.000442599 0 0 TTN 7273 broad.mit.edu 37 2 179597057 179597057 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:179597057C>T uc021vsy.1 - 53 13132 c.12907G>A c.(12907-12909)Gaa>Aaa p.E4303K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E964K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5230 Ig-like 23. G -> D. 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) TCTAACTTTTCAACAAATGTG 0.393000 136 28 0 0 0.000692331 0 0 ZPLD1 131368 broad.mit.edu 37 3 102175049 102175049 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:102175049C>T uc003dvt.1 + 3 488 c.388C>T c.(388-390)Cct>Tct p.P130S ZPLD1_uc003dvs.1_Missense_Mutation_p.P114S|ZPLD1_uc011bhg.1_Missense_Mutation_p.P114S NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 114 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ATCCACAATTCCTGGAGTCAG 0.348000 64 7 0 0 0.000274275 0 0 TNKS2 80351 broad.mit.edu 37 10 93579031 93579031 + Missense_Mutation SNP A T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr10:93579031A>T uc001khp.3 + 3 822 c.525A>T c.(523-525)gaA>gaT p.E175D NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA. 175 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) TCACAGGTGAATATAAGAAAG 0.239000 23 11 0 0 0.000978159 0 0 ZNF792 126375 broad.mit.edu 37 19 35449031 35449031 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:35449031G>A uc002nxh.1 - 3 2115 c.1728C>T c.(1726-1728)acC>acT p.T576T NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN Homo sapiens zinc finger protein 792 (ZNF792), mRNA. 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCCGAATGAGGGTAGGCCTTT 0.502000 27 6 0 0 0.00116845 0 0 ZNF683 257101 broad.mit.edu 37 1 26694131 26694131 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:26694131G>A uc001bmg.1 - 2 390 c.272C>T c.(271-273)cCc>cTc p.P91L ZNF683_uc001bmh.1_Missense_Mutation_p.P91L|ZNF683_uc009vsj.1_Missense_Mutation_p.P91L NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA. 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) TGTGCCCAGGGGTGCCGGCTG 0.692000 36 6 0 0 0.00198382 0 0 OR2V2 285659 broad.mit.edu 37 5 180582469 180582469 + Missense_Mutation SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:180582469A>G uc011dhj.2 + 0 527 c.527A>G c.(526-528)aAc>aGc p.N176S NM_206880 NP_996763 Q96R30 OR2V2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA. 176 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) AGGAAGGTGAACCATTTCTTC 0.473000 188 30 0 0 0.000692331 0 0 ZIM3 114026 broad.mit.edu 37 19 57646378 57646378 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr19:57646378C>T uc002qnz.1 - 4 1713 c.1327G>A c.(1327-1329)Gga>Aga p.G443R NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGTTTTTGTCCAGTATGGGTT 0.418000 172 21 0 0 0.00229938 0 0 SETD2 29072 broad.mit.edu 37 3 47129691 47129691 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:47129691G>A uc003cqv.3 - 10 5476 c.5390C>T c.(5389-5391)tCt>tTt p.S1797F SETD2_uc003cqs.3_Missense_Mutation_p.S1730F NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN Homo sapiens SET domain containing 2 (SETD2), mRNA. 1730 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GTTTTTATCAGAGAGACCCTC 0.383000 """N, F, S, Mis""" clear cell renal carcinoma 125 15 0 0 0.000308642 0 0 OR6C2 341416 broad.mit.edu 37 12 55846490 55846490 + Missense_Mutation SNP G A A rs140332483 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:55846490G>A uc001sgz.1 + 0 493 c.493G>A c.(493-495)Gaa>Aaa p.E165K NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E165K(2) kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CCTCCAGCTCGAATTCTGTGA 0.448000 111 10 0 0 0.000978159 0 0 DNAH5 1767 broad.mit.edu 37 5 13824441 13824441 + Splice_Site SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:13824441A>G uc003jfd.2 - 39 6487 c.6445_splice c.e39-1 p.V2149_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2149 AAA 1 (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) GTCATAATGAACCTAGAGAAT 0.378000 Kartagener syndrome 44 7 0 0 0.000157383 0 0 SYNJ2 8871 broad.mit.edu 37 6 158502225 158502225 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:158502225C>T uc003qqx.2 + 18 2758 c.2652C>T c.(2650-2652)ttC>ttT p.F884F SYNJ2_uc003qqw.2_Silent_p.F884F|SYNJ2_uc003qqy.2_Silent_p.F647F|SYNJ2_uc003qqz.2_Silent_p.F501F|SYNJ2_uc003qra.2_Silent_p.F227F NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 884 RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TGTCCTCCTTCCAGGGCCCCC 0.532000 72 11 0 0 0.00136819 0 0 CLCN1 1180 broad.mit.edu 37 7 143036627 143036627 + Missense_Mutation SNP G A A rs121912807 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:143036627G>A uc003wcr.1 + 13 1582 c.1495G>A c.(1495-1497)Gga>Aga p.G499R CLCN1_uc011ktc.1_Missense_Mutation_p.G111R NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 499 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) AAGGCTGGTAGGAGAAATCAT 0.443000 81 6 0 0 0.00198382 0 0 GPR112 139378 broad.mit.edu 37 X 135430025 135430025 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:135430025C>T uc004ezu.1 + 5 4451 c.4160C>T c.(4159-4161)cCa>cTa p.P1387L GPR112_uc010nsb.1_Missense_Mutation_p.P1182L|GPR112_uc010nsc.1_Missense_Mutation_p.P1154L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1387 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AGTGCCCTTCCAGCATATACT 0.453000 79 49 0 0 0.000781405 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3675518 3675518 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:3675518C>T uc002wja.3 - 10 2736 c.2736G>A c.(2734-2736)gtG>gtA p.V912V SIGLEC1_uc002wiz.4_Silent_p.V912V|SIGLEC1_uc002wjb.1_5'Flank NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 912 Ig-like C2-type 9. 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 AGCTCAGGACCACAGCCTGGC 0.632000 32 5 0 0 0.00116845 0 0 ETV1 2115 broad.mit.edu 37 7 13971334 13971334 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:13971334G>A uc021zzz.1 - 6 682 c.595C>T c.(595-597)Cct>Tct p.P199S ETV1_uc021zzt.1_Missense_Mutation_p.P159S|ETV1_uc021zzu.1_Missense_Mutation_p.P96S|ETV1_uc021zzv.1_Missense_Mutation_p.P141S|ETV1_uc021zzw.1_Missense_Mutation_p.P159S|ETV1_uc021zzx.1_Missense_Mutation_p.P96S|ETV1_uc021zzy.1_Missense_Mutation_p.P141S|ETV1_uc022aaa.1_Missense_Mutation_p.P181S|ETV1_uc022aab.1_Missense_Mutation_p.P199S|ETV1_uc003ssw.4_Missense_Mutation_p.P199S|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.P181S|ETV1_uc022aad.1_Missense_Mutation_p.P181S|ETV1_uc010ktv.3_Missense_Mutation_p.P68S NM_004956 NP_004947 P50549 ETV1_HUMAN Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA. 199 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTCGGCAAAGGAGGAAAGGAG 0.478000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 39 10 0 0 0.000978159 0 0 ST18 9705 broad.mit.edu 37 8 53062383 53062383 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:53062383G>A uc003xqz.2 - 10 2117 c.1961C>T c.(1960-1962)gCa>gTa p.A654V ST18_uc011ldq.1_Missense_Mutation_p.A301V|ST18_uc011ldr.1_Missense_Mutation_p.A619V|ST18_uc011lds.1_Missense_Mutation_p.A559V|ST18_uc003xra.2_Missense_Mutation_p.A654V|ST18_uc003xrb.2_Missense_Mutation_p.A654V NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 654 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ATAGAATGCTGCATTGACCAG 0.458000 85 10 0 0 0.000442599 0 0 ATR 545 broad.mit.edu 37 3 142231206 142231206 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:142231206G>A uc003eux.4 - 26 4870 c.4748C>T c.(4747-4749)tCc>tTc p.S1583F NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 1583 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GTCAAGCATGGAGAACACAGT 0.428000 Other conserved DNA damage response genes 104 18 0 0 0.00074312 0 0 APOB 338 broad.mit.edu 37 2 21230873 21230873 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:21230873G>A uc002red.3 - 25 8995 c.8867C>T c.(8866-8868)tCc>tTc p.S2956F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2956 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 p.S2956F(2) 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) CAGTCCAAAGGAAGTGAGGGG 0.408000 475 107 0 0 0.000781405 0 0 COL1A1 1277 broad.mit.edu 37 17 48262930 48262930 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:48262930G>A uc002iqm.3 - 50 4454 c.4328C>T c.(4327-4329)gCc>gTc p.A1443V DD181999_uc021tzy.1_5'Flank NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1443 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GTCCAAGGGGGCCACATCGAT 0.607000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 88 15 0 0 0.000422831 0 0 SPRR3 6707 broad.mit.edu 37 1 152975541 152975541 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:152975541G>A uc021ozo.1 + 0 45 c.45G>A c.(43-45)caG>caA p.Q15Q SPRR3_uc001fax.4_Silent_p.Q15Q|SPRR3_uc001faz.4_Silent_p.Q15Q|SPRR3_uc001fay.2_Silent_p.Q15Q NM_005416 NP_005407 Q9UBC9 SPRR3_HUMAN Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA. 15 keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACCACCTCAGCTTCAACAGC 0.488000 69 10 0 0 0.000978159 0 0 CYFIP2 26999 broad.mit.edu 37 5 156736808 156736808 + Nonsense_Mutation SNP A T T rs3207362 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:156736808A>T uc021ygm.1 + 9 1093 c.955A>T c.(955-957)Aag>Tag p.K319* CYFIP2_uc011ddn.2_Nonsense_Mutation_p.K294*|CYFIP2_uc011ddo.2_Nonsense_Mutation_p.K124*|CYFIP2_uc021ygn.1_Nonsense_Mutation_p.K319*|CYFIP2_uc021ygo.1_Nonsense_Mutation_p.K319*|CYFIP2_uc003lwt.3_Nonsense_Mutation_p.K198*|CYFIP2_uc011ddp.2_Nonsense_Mutation_p.K54* NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 320 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGATACATTAAGACCAGTGC 0.577000 201 30 0 0 0.00209593 0 0 DDR1 780 broad.mit.edu 37 6 30857097 30857097 + Missense_Mutation SNP C A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:30857097C>A uc003nrv.3 + 2 349 c.307C>A c.(307-309)Cag>Aag p.Q103K DDR1_uc010jse.3_Missense_Mutation_p.Q103K|DDR1_uc003nrq.3_Missense_Mutation_p.Q103K|DDR1_uc003nrr.3_Missense_Mutation_p.Q103K|DDR1_uc003nrs.3_Missense_Mutation_p.Q103K|DDR1_uc003nrt.3_Missense_Mutation_p.Q103K|DDR1_uc011dms.2_Missense_Mutation_p.Q121K|DDR1_uc011dmt.2_Missense_Mutation_p.Q129K|DDR1_uc003nru.3_Missense_Mutation_p.Q103K|DDR1_uc011dmu.1_Missense_Mutation_p.Q103K|DDR1_uc003nry.2_Missense_Mutation_p.Q103K|DDR1_uc003nrx.2_Missense_Mutation_p.Q103K|MIR4640_uc021yue.1_5'Flank|DDR1_uc003nrw.1_5'Flank NM_013994 NP_054700 Q08345 DDR1_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA. 103 F5/8 type C. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) GGTGGGCACCCAGGGACGGCA 0.672000 63 6 0.00116845 0.00419558 0.00116845 1 0 RPS27 6232 broad.mit.edu 37 1 153963239 153963239 + Splice_Site SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:153963239C>T uc001fdv.3 + 1 1 c.-33_splice c.e1-1 NM_001030 NP_001021 P42677 RS27_HUMAN Homo sapiens ribosomal protein S27 (RPS27), mRNA. cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTTTCGCTCCTTTCCGGCGG 0.537000 59 16 0 0 0.00074312 0 0 C20orf79 140856 broad.mit.edu 37 20 18794566 18794566 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr20:18794566C>T uc002wrk.3 + 0 197 c.107C>T c.(106-108)cCt>cTt p.P36L C20orf78_uc002wrj.2_Intron NM_178483 NP_848578 Q9UJQ7 CT079_HUMAN Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA. 36 sterol binding NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4) 12 ATGCCACATCCTCTAGAGCTG 0.502000 50 9 0 0 0.000673444 0 0 MAP7 9053 broad.mit.edu 37 6 136704811 136704811 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:136704811C>T uc011edg.2 - 5 950 c.701G>A c.(700-702)aGa>aAa p.R234K MAP7_uc011edf.2_Missense_Mutation_p.R197K|MAP7_uc010kgu.3_Missense_Mutation_p.R234K|MAP7_uc011edh.2_Intron|MAP7_uc010kgv.3_Missense_Mutation_p.R234K|MAP7_uc010kgs.3_Missense_Mutation_p.R66K|MAP7_uc011edi.2_Missense_Mutation_p.R66K|MAP7_uc010kgq.2_Missense_Mutation_p.R118K|MAP7_uc003qgz.3_Missense_Mutation_p.R212K|MAP7_uc003qha.2_Intron|MAP7_uc010kgr.2_Missense_Mutation_p.R66K|MAP7_uc010kgt.2_Missense_Mutation_p.R234K NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 212 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) GACTGTACCTCTATCTGGAGA 0.373000 48 12 0 0 0.00185496 0 0 OR5T1 390155 broad.mit.edu 37 11 56043872 56043872 + Missense_Mutation SNP G T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:56043872G>T uc001nio.1 + 0 758 c.758G>T c.(757-759)tGt>tTt p.C253F NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TTCTCTACATGTGGAGCTCAC 0.433000 124 30 3.1745e-13 1.16579e-12 0.001512 1 0 RNF123 63891 broad.mit.edu 37 3 49753850 49753850 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:49753850C>T uc003cxh.3 + 34 3526 c.3440C>T c.(3439-3441)cCc>cTc p.P1147L RNF123_uc003cxi.3_Non-coding_Transcript NM_022064 NP_071347 Q5XPI4 RN123_HUMAN Homo sapiens ring finger protein 123 (RNF123), mRNA. 1147 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GACCACTATCCCATTCTGGTG 0.642000 207 27 0 0 0.00178596 0 0 CNTFR 1271 broad.mit.edu 37 9 34556385 34556385 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:34556385G>A uc003zup.2 - 6 930 c.636C>T c.(634-636)gcC>gcT p.A212A CNTFR_uc003zuq.2_Silent_p.A212A|CNTFR_uc022bgg.1_Silent_p.A212A NM_147164 NP_671693 P26992 CNTFR_HUMAN Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA. 212 Fibronectin type-III 2. nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1) 15 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) GCACTGGCCGGGCTACCACAT 0.552000 57 5 0 0 0.00116845 0 0 ABCA12 26154 broad.mit.edu 37 2 215839571 215839571 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:215839571G>A uc002vew.3 - 34 5619 c.5399C>T c.(5398-5400)aCg>aTg p.T1800M ABCA12_uc002vev.3_Missense_Mutation_p.T1482M|ABCA12_uc010zjn.2_Missense_Mutation_p.T727M NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1800 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.T1800M(2) 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) AAGTGCTTCCGTGCTCGGGTG 0.378000 115 16 0 0 0.000422831 0 0 GADL1 339896 broad.mit.edu 37 3 30842485 30842485 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:30842485G>A uc003cep.2 - 11 1193 c.1146C>T c.(1144-1146)atC>atT p.I382I GADL1_uc003ceq.1_Silent_p.I382I NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA. 382 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) TGCTACACTGGATAGACTTGT 0.438000 61 16 0 0 0.000422831 0 0 IL1RN 3557 broad.mit.edu 37 2 113885205 113885205 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:113885205G>A uc002tjb.3 + 0 68 c.4G>A c.(4-6)Gaa>Aaa p.E2K IL1RN_uc002tix.1_Intron|IL1RN_uc002tiz.3_Intron|IL1RN_uc002tiy.3_Intron|IL1RN_uc002tja.3_Intron NM_173842 NP_776215 P18510 IL1RA_HUMAN Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA. 2 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) TCACAGAATGGAAATCTGCAG 0.527000 Lichen Sclerosis et Atrophicus, Familial Clustering of 25 9 0 0 0.000274275 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605268 140605268 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:140605268C>T uc003ljb.3 + 0 2191 c.2191C>T c.(2191-2193)Ccc>Tcc p.P731S NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 731 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) GCCCGAGGGTCCCTTTCCAGG 0.647000 128 28 0 0 0.00106085 0 0 TTC26 79989 broad.mit.edu 37 7 138853127 138853127 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr7:138853127G>A uc003vus.2 + 10 1103 c.989G>A c.(988-990)gGc>gAc p.G330D TTC26_uc003vur.4_Missense_Mutation_p.G330D|TTC26_uc011kqn.1_Missense_Mutation_p.G330D|TTC26_uc011kqo.1_Missense_Mutation_p.G299D|TTC26_uc011kqp.1_Missense_Mutation_p.G225D|TTC26_uc003vut.2_Missense_Mutation_p.G190D|TTC26_uc011kqq.1_Missense_Mutation_p.G199D NM_024926 NP_079202 A0AVF1 TTC26_HUMAN Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA. 330 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 GCAGCCCTTGGCCAGGAAATG 0.368000 44 6 0 0 0.000157383 0 0 CT47B1 643311 broad.mit.edu 37 X 120008798 120008798 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:120008798C>T uc011muc.2 - 0 982 c.727G>A c.(727-729)Gaa>Aaa p.E243K NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA. 243 p.K235_E243delKLTEEATEE(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GCGGCCGGTtcctctgtggcc 0.687000 59 17 0 0 0.000958276 0 0 IDO1 3620 broad.mit.edu 37 8 39775406 39775406 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:39775406G>A uc003xnm.3 + 1 214 c.100G>A c.(100-102)Gat>Aat p.D34N NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 34 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) AAATCTACCTGATTTTTATAA 0.358000 36 8 0 0 0.000157383 0 0 ULK1 8408 broad.mit.edu 37 12 132394839 132394839 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:132394839G>A uc001uje.3 + 10 1117 c.849G>A c.(847-849)tcG>tcA p.S283S NM_003565 NP_003556 O75385 ULK1_HUMAN Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA. 283 autophagy|protein localization|regulation of autophagy ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CCAGCCCCTCGGTCAGGAAAT 0.617000 119 17 0 0 0.00188189 0 0 FGFR4 2264 broad.mit.edu 37 5 176524534 176524534 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:176524534G>A uc003mfl.3 + 17 2433 c.2266G>A c.(2266-2268)Gac>Aac p.D756N FGFR4_uc003mfm.3_Missense_Mutation_p.D756N|FGFR4_uc011dfu.2_Missense_Mutation_p.D688N|FGFR4_uc003mfo.3_Missense_Mutation_p.D716N NM_002011 NP_998812 P22455 FGFR4_HUMAN Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. 756 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) 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) Palifermin(DB00039) ACAGTACCTCGACCTCCGCCT 0.672000 TSP Lung(9;0.080) 58 10 0 0 0.000978159 0 0 PSD2 84249 broad.mit.edu 37 5 139216477 139216477 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr5:139216477C>T uc003leu.1 + 9 1690 c.1485C>T c.(1483-1485)atC>atT p.I495I NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA. 495 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) TGACGCGAATCCTGGATGGTG 0.577000 79 11 0 0 0.00244969 0 0 DNAH9 1770 broad.mit.edu 37 17 11535910 11535910 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:11535910G>A uc002gne.3 + 7 1593 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 509 Stem (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) TCAGGACTTTGAAAATGACGT 0.393000 62 12 0 0 0.00185496 0 0 OR2L1P 26247 broad.mit.edu 37 1 248154146 248154146 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:248154146G>A uc001idv.1 + 0 578 c.334G>A c.(334-336)Gtc>Atc p.V112I OR2L13_uc001ids.3_Intron Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA. lung(11) 11 GGATACCTGGGTCTATGAGTG 0.458000 69 12 0 0 0.000978159 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955621 18955621 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:18955621G>A uc001mpg.3 - 0 929 c.711C>T c.(709-711)ttC>ttT p.F237F NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 237 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 ATAAAAATAGGAAAAACTGAA 0.488000 25 6 0 0 0.00116845 0 0 ABCB11 8647 broad.mit.edu 37 2 169780299 169780299 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:169780299C>T uc002ueo.1 - 27 3925 c.3799G>A c.(3799-3801)Ggt>Agt p.G1267S ABCB11_uc010zda.1_Missense_Mutation_p.G685S|ABCB11_uc010zdb.1_Missense_Mutation_p.G743S NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 1267 ABC transporter 2. bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CAGGTCCGACCCTCTCTGGCT 0.527000 47 11 0 0 0.00185496 0 0 OR10C1 442194 broad.mit.edu 37 6 29408667 29408667 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:29408667G>A uc011dlp.2 + 0 952 c.875G>A c.(874-876)cGg>cAg p.R292Q OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TACAGCCTGCGGAACACAGAG 0.542000 139 8 0 0 0.000673444 0 0 CFHR5 81494 broad.mit.edu 37 1 196952077 196952077 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:196952077C>T uc001gts.4 + 1 249 c.121C>T c.(121-123)Cct>Tct p.P41S NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 41 Sushi 1. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 AGATTATAACCCTTTTTCCCA 0.338000 83 10 0 0 0.000442599 0 0 PAPOLG 64895 broad.mit.edu 37 2 61019409 61019409 + Missense_Mutation SNP T A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:61019409T>A uc002sai.3 + 16 1913 c.1664T>A c.(1663-1665)gTa>gAa p.V555E PAPOLG_uc002saj.3_Missense_Mutation_p.V244E|PAPOLG_uc002sak.3_Missense_Mutation_p.V90E|PAPOLG_uc010fch.3_Missense_Mutation_p.V244E NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA. 555 RNA polyadenylation|mRNA processing|transcription, DNA-dependent nucleus ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AGCCCTTCTGTAGGAGAAACA 0.388000 55 12 0 0 0.00244969 0 0 POP1 10940 broad.mit.edu 37 8 99153020 99153020 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:99153020C>T uc003yij.4 + 10 1598 c.1498C>T c.(1498-1500)Ccg>Tcg p.P500S POP1_uc011lgv.2_Missense_Mutation_p.P500S|POP1_uc003yik.3_Missense_Mutation_p.P500S|TRNA_Und_uc022aza.1_5'Flank NM_001145860 NP_055844 Q99575 POP1_HUMAN Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA. 500 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) AGCAGAAATTCCGGCAGGTAC 0.368000 71 10 0 0 0.000978159 0 0 MUCL1 118430 broad.mit.edu 37 12 55252002 55252002 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:55252002C>T uc001sgk.3 + 3 317 c.249C>T c.(247-249)ctC>ctT p.L83L NM_058173 NP_477521 Q96DR8 MUCL1_HUMAN Homo sapiens mucin-like 1 (MUCL1), mRNA. 83 extracellular region|membrane breast(1)|kidney(1)|lung(1) 3 TTGGGGATCTCCCGAATGGTA 0.413000 142 21 0 0 0.00047179 0 0 TTN 7273 broad.mit.edu 37 2 179477551 179477551 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:179477551C>T uc021vsy.1 - 213 42418 c.42193G>A c.(42193-42195)Gaa>Aaa p.E14065K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E7760K|TTN_uc021vta.1_Missense_Mutation_p.E7693K|TTN_uc021vtb.1_Missense_Mutation_p.E7568K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 14992 Fibronectin type-III 1. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E14065*(2)|p.E7693*(1)|p.E7568*(1)|p.E7760*(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) GGTTCACTTTCCCCAGCCTTA 0.502000 21 4 0 0 0.000602214 0 0 SLC44A3 126969 broad.mit.edu 37 1 95303320 95303320 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:95303320C>T uc001dqv.4 + 5 670 c.563C>T c.(562-564)tCc>tTc p.S188F SLC44A3_uc001dqx.4_Missense_Mutation_p.S188F|SLC44A3_uc010otq.2_Missense_Mutation_p.S120F|SLC44A3_uc010otr.2_Missense_Mutation_p.S152F|SLC44A3_uc001dqw.4_Missense_Mutation_p.S140F|SLC44A3_uc010ots.2_Missense_Mutation_p.S108F|SLC44A3_uc009wds.3_Missense_Mutation_p.S91F|SLC44A3_uc010ott.2_Missense_Mutation_p.S108F|SLC44A3_uc010otu.1_Non-coding_Transcript NM_001114106 NP_689582 Q8N4M1 CTL3_HUMAN Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA. 188 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) GAGTGCTACTCCCTATTTGCA 0.378000 107 27 0 0 0.00106085 0 0 CPA6 57094 broad.mit.edu 37 8 68396082 68396082 + Nonsense_Mutation SNP C T T rs139178030 byFrequency TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr8:68396082C>T uc003xxq.4 - 7 1015 c.759G>A c.(757-759)tgG>tgA p.W253* CPA6_uc003xxr.4_Nonsense_Mutation_p.W105*|CPA6_uc003xxs.2_Nonsense_Mutation_p.W253* NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN Homo sapiens carboxypeptidase A6 (CPA6), mRNA. 253 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTGTTTTTCTCCAAAATCGAT 0.398000 162 14 0 0 0.00244969 0 0 MRC2 9902 broad.mit.edu 37 17 60742070 60742070 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:60742070C>T uc002jad.3 + 1 682 c.280C>T c.(280-282)Ctg>Ttg p.L94L Y_RNA_uc021ubi.1_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 94 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CATGCAGTGCCTGGGCACAGG 0.617000 70 6 0 0 0.00198382 0 0 KCNA10 3744 broad.mit.edu 37 1 111061064 111061064 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:111061064C>T uc001dzt.1 - 0 734 c.346G>A c.(346-348)Gaa>Aaa p.E116K NM_005549 NP_005540 Q16322 KCA10_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA. 116 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) ATCCTTTTTTCCCGGTCTCCC 0.468000 72 28 0 0 0.00178596 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450602 105450602 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:105450602G>A uc022cca.1 + 0 1177 c.1177G>A c.(1177-1179)Gga>Aga p.G393R MUM1L1_uc004emg.2_Missense_Mutation_p.G393R|MUM1L1_uc004emf.2_Missense_Mutation_p.G393R NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 393 PWWP. autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 GTTTGAAACAGGAATGATAGT 0.368000 24 7 0 0 0.00198382 0 0 RND1 27289 broad.mit.edu 37 12 49255887 49255887 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:49255887C>T uc001rsn.3 - 2 326 c.223G>A c.(223-225)Gat>Aat p.D75N NM_014470 NP_055285 Q92730 RND1_HUMAN Homo sapiens Rho family GTPase 1 (RND1), mRNA. 75 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 CGGACATTATCGTAGTAGGGA 0.507000 71 7 0 0 0.000274275 0 0 RGPD4 285190 broad.mit.edu 37 2 108488418 108488418 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:108488418G>A uc010ywk.2 + 19 4040 c.3958G>A c.(3958-3960)Gaa>Aaa p.E1320K RGPD4_uc002tdu.3_Missense_Mutation_p.E507K|RGPD4_uc010ywl.2_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1320 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TGGCACTGATGAAGAATCTGA 0.408000 171 47 0 0 0.000781405 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857008 9857008 + Nonstop_Mutation SNP A T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:9857008A>T uc010uym.2 - 13 4703 c.4393T>A c.(4393-4395)Taa>Aaa p.*1465K GRIN2A_uc002czo.4_Nonstop_Mutation_p.*1465K|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 0 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAAGATTTTTAAACATCAGAT 0.378000 49 6 0 0 0.00116845 0 0 GPR114 221188 broad.mit.edu 37 16 57600608 57600608 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:57600608C>T uc002ely.3 + 6 1167 c.644C>T c.(643-645)tCc>tTc p.S215F GPR114_uc002elx.4_Missense_Mutation_p.S215F|GPR114_uc010vhr.2_Missense_Mutation_p.S215F NM_153837 NP_722579 Q8IZF4 GP114_HUMAN Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA. 215 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 GAGCAGCCCTCCCACTCTCAG 0.607000 57 17 0 0 0.000958276 0 0 IL17RC 84818 broad.mit.edu 37 3 9970149 9970149 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:9970149C>T uc003bua.3 + 10 1469 c.1251C>T c.(1249-1251)tcC>tcT p.S417S CIDEC_uc003bto.3_Intron|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Silent_p.S321S|IL17RC_uc003btz.3_Silent_p.S346S|IL17RC_uc011atp.2_Silent_p.S202S|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Silent_p.S346S|IL17RC_uc010hcu.3_Silent_p.S346S|IL17RC_uc003bub.3_Silent_p.S331S|IL17RC_uc010hcv.3_Silent_p.S331S|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Silent_p.S331S|IL17RC_uc003bue.3_5'Flank NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA. 417 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CACCGCTTTCCTGGGAGAACG 0.672000 86 9 0 0 0.000673444 0 0 SPP1 6696 broad.mit.edu 37 4 88902665 88902665 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:88902665G>A uc003hra.3 + 5 420 c.255G>A c.(253-255)atG>atA p.M85I SPP1_uc011cde.2_Missense_Mutation_p.M98I|SPP1_uc003hrb.3_Missense_Mutation_p.M58I|SPP1_uc003hrc.3_Missense_Mutation_p.M71I|SPP1_uc003hrd.3_Missense_Mutation_p.M44I NM_001040058 NP_001035147 P10451 OSTP_HUMAN Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA. 85 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) ATGACCACATGGATGATATGG 0.413000 190 97 0 0 0.000781405 0 0 SYT9 143425 broad.mit.edu 37 11 7441752 7441752 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:7441752G>A uc001mfe.3 + 5 1590 c.1353G>A c.(1351-1353)gaG>gaA p.E451E SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 451 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GTCACAATGAGATCATCGGCG 0.438000 53 11 0 0 0.000308642 0 0 WWC3 55841 broad.mit.edu 37 X 10085262 10085262 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:10085262C>T uc004csx.4 + 10 1361 c.1163C>T c.(1162-1164)tCg>tTg p.S388L WWC3_uc010nds.3_Missense_Mutation_p.S52L|WWC3_uc010ndt.3_Non-coding_Transcript NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN Homo sapiens WWC family member 3 (WWC3), mRNA. 388 Ser-rich. NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 TCCCTGAGCTCGGTCAGCTTC 0.667000 27 19 0 0 0.00278032 0 0 MYH15 22989 broad.mit.edu 37 3 108158647 108158647 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr3:108158647C>T uc003dxa.1 - 24 3129 c.3072G>A c.(3070-3072)atG>atA p.M1024I NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1024 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.M1024T(1) 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 TCTCCTCCTCCATGTGCAGGT 0.483000 135 12 0 0 0.000978159 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454471 84454471 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:84454471C>T uc001vlk.3 - 0 2058 c.1172G>A c.(1171-1173)cGa>cAa p.R391Q NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 391 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTGCGATTTTCGGATGCTGTG 0.448000 139 32 0 0 0.0024448 0 0 TMEM192 201931 broad.mit.edu 37 4 166021901 166021901 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr4:166021901G>A uc003iqz.4 - 2 417 c.318C>T c.(316-318)ctC>ctT p.L106L NM_001100389 NP_001093859 Q8IY95 TM192_HUMAN Homo sapiens transmembrane protein 192 (TMEM192), mRNA. 106 Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) GGAGTAAATGGAGAATCCACA 0.403000 80 15 0 0 0.000422831 0 0 IGF2 3481 broad.mit.edu 37 11 2156625 2156625 + Silent SNP G A A rs140032633 TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:2156625G>A uc009yde.3 - 1 232 c.129C>T c.(127-129)ttC>ttT p.F43F IGF2_uc001lvf.3_5'Flank|IGF2_uc001lvg.3_Silent_p.F43F|IGF2_uc009ydf.3_Silent_p.F99F|IGF2_uc021qcb.1_Silent_p.F43F|IGF2_uc001lvh.3_Silent_p.F43F|IGF2_uc001lvi.3_Non-coding_Transcript|MIR483_uc021qcc.1_5'Flank|IGF2_uc001lvj.1_Non-coding_Transcript NM_001007139 NP_001007140 P01344 IGF2_HUMAN Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA. 43 B. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CCCCACAGACGAACTGGAGGG 0.627000 17 6 0 0 0.00116845 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840442 1840442 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr17:1840442G>A uc002ftp.3 - 1 693 c.674C>T c.(673-675)aCc>aTc p.T225I NM_178568 NP_848663 Q86UN2 R4RL1_HUMAN Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA. 225 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 GAGGAAGAGGGTGGTCAGCCT 0.652000 18 5 0 0 0.00198382 0 0 DSCAM 1826 broad.mit.edu 37 21 41414516 41414516 + Missense_Mutation SNP A G G TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr21:41414516A>G uc002yyq.1 - 31 5920 c.5468T>C c.(5467-5469)aTg>aCg p.M1823T DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1823 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) TTGCTCTTCCATCTTGGCGTG 0.537000 83 10 0 0 0.000978159 0 0 RYR2 6262 broad.mit.edu 37 1 237796904 237796904 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:237796904C>T uc001hyl.1 + 42 6702 c.6582C>T c.(6580-6582)gcC>gcT p.A2194A NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2194 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGATGGTGGCCAACTGTTGCC 0.393000 257 38 0 0 0.000781405 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182873317 182873317 + Nonsense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr1:182873317G>A uc001gpu.3 - 7 1870 c.1585C>T c.(1585-1587)Cag>Tag p.Q529* SHCBP1L_uc001gpv.3_Nonsense_Mutation_p.Q410*|SHCBP1L_uc010pnz.2_Nonsense_Mutation_p.Q387*|SHCBP1L_uc001gpw.3_Nonsense_Mutation_p.Q249* NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA. 601 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TGAAATACCTGGGCGCCAGTT 0.358000 61 13 0 0 0.00244969 0 0 TTN 7273 broad.mit.edu 37 2 179440104 179440104 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:179440104C>T uc021vsy.1 - 274 63276 c.63051G>A c.(63049-63051)gtG>gtA p.V21017V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V14712V|TTN_uc021vta.1_Silent_p.V14645V|TTN_uc021vtb.1_Silent_p.V14520V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21944 Fibronectin type-III 52. 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) CTAACCCTTTCACGGTTGTGA 0.498000 65 7 0 0 0.00198382 0 0 FLT3 2322 broad.mit.edu 37 13 28608116 28608116 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr13:28608116C>T uc001urw.3 - 14 1932 c.1850G>A c.(1849-1851)gGa>gAa p.G617E FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.G617E NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 617 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.G617_S618ins21(1)|p.V615_L616ins20(1) 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) AGCACCTGATCCTAGTACCTT 0.403000 """Mis, O""" """AML, ALL""" 162 28 0 0 0.00106085 0 0 COL4A6 1288 broad.mit.edu 37 X 107417830 107417830 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chrX:107417830C>T uc004enw.4 - 30 3084 c.2981G>A c.(2980-2982)cGa>cAa p.R994Q COL4A6_uc004env.4_Missense_Mutation_p.R993Q|COL4A6_uc011msn.2_Missense_Mutation_p.R993Q|COL4A6_uc010npk.3_Missense_Mutation_p.R993Q NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 994 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.P994H(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TGGTCCAGGTCGACCAGCCTC 0.547000 Alport syndrome with Diffuse Leiomyomatosis 22 9 0 0 0.00136819 0 0 LALBA 3906 broad.mit.edu 37 12 48962902 48962902 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:48962902G>A uc001rrt.3 - 1 281 c.255C>T c.(253-255)gtC>gtT p.V85V NM_002289 NP_002280 P00709 LALBA_HUMAN Homo sapiens lactalbumin, alpha- (LALBA), mRNA. 85 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 TTGACTGAGGGACCTGGCTGC 0.468000 107 12 0 0 0.000978159 0 0 SLC6A15 55117 broad.mit.edu 37 12 85264378 85264378 + Silent SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:85264378G>A uc001szv.3 - 8 1867 c.1374C>T c.(1372-1374)ttC>ttT p.F458F SLC6A15_uc010sul.2_Silent_p.F351F NM_182767 NP_001139807 Q9H2J7 S6A15_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA. 458 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TCACTGACCAGAAGGGAGATG 0.443000 96 20 0 0 0.00278032 0 0 EPHA7 2045 broad.mit.edu 37 6 94066482 94066482 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:94066482C>T uc003poe.3 - 4 1518 c.1277G>A c.(1276-1278)cGa>cAa p.R426Q EPHA7_uc003pof.3_Missense_Mutation_p.R426Q|EPHA7_uc011eac.2_Missense_Mutation_p.R426Q NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 426 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity p.R426*(1)|p.R426R(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CCTCTGGGATCGGCTTAAGTC 0.418000 66 17 0 0 0.00074312 0 0 DNAH3 55567 broad.mit.edu 37 16 20976501 20976501 + Missense_Mutation SNP G A A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:20976501G>A uc010vbe.2 - 52 8705 c.8705C>T c.(8704-8706)gCt>gTt p.A2902V DNAH3_uc010vbd.2_Missense_Mutation_p.A337V NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2902 Stalk (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) CCGTTTGGGAGCCACCACCTT 0.582000 112 36 0 0 0.00058488 0 0 ALK 238 broad.mit.edu 37 2 29436869 29436869 + Missense_Mutation SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr2:29436869C>T uc002rmy.3 - 23 4676 c.3724G>A c.(3724-3726)Gaa>Aaa p.E1242K ALK_uc010ymo.2_Missense_Mutation_p.E174K NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 1242 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AAGTGGTTTTCCTCCAAATAC 0.572000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 61 9 0 0 0.000442599 0 0 EP400 57634 broad.mit.edu 37 12 132551330 132551330 + Silent SNP C T T TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:132551330C>T uc001ujn.3 + 48 8717 c.8565C>T c.(8563-8565)ccC>ccT p.P2855P EP400_uc021rgq.1_Silent_p.P2854P|EP400_uc001ujm.3_Silent_p.P2774P|EP400_uc001ujp.3_Intron NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2891 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCCGGGTTCCCACTTCTCAGC 0.572000 49 5 0 0 0.00116845 0 0 SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A - - TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr6:71508370delA uc003pfr.3 + 5 754 c.506delA c.(505-507)gaafs p.E169fs SMAP1_uc011dxy.1_Non-coding_Transcript|SMAP1_uc003pfs.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kao.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kap.3_Frame_Shift_Del_p.E159fs NM_001044305 NP_001037770 Q8IYB5 SMAP1_HUMAN Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA. 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 --- 5 --- --- 3 --- ABL1 25 broad.mit.edu 37 9 133759490 133759492 + In_Frame_Del DEL AAG - - TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr9:133759490_133759492delAAG uc004bzw.3 + 10 1816_1818 c.1813_1815delAAG c.(1813-1815)aagdel p.K609del ABL1_uc004bzv.3_In_Frame_Del_p.K628del NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 609 Poly-Lys. DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGCCTTGATCAAGAAGAAGAAGA 0.616 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" --- 146 --- --- 10 --- MTL5 9633 broad.mit.edu 37 11 68480836 68480836 + Frame_Shift_Del DEL T - - TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr11:68480836delT uc001ooc.3 - 7 1200 c.1060delA c.(1060-1062)attfs p.I354fs NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA. 354 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) CCCTTCCCAATTTTTGGCTGG 0.473 --- 392 --- --- 7 --- VEZT 55591 broad.mit.edu 37 12 95689830 95689830 + Frame_Shift_Del DEL T - - TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr12:95689830delT uc001tdz.2 + 10 1732 c.1627delT c.(1627-1629)ttafs p.L543fs VEZT_uc001tds.3_Frame_Shift_Del_p.L495fs|VEZT_uc001tdv.3_Frame_Shift_Del_p.L516fs|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_Non-coding_Transcript NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA. 543 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 TTTTCAGGAATTAGAAGCTTA 0.308 --- 4 --- --- 2 --- TRPM1 4308 broad.mit.edu 37 15 31341630 31341631 + Frame_Shift_Ins INS - CTCCGTTT CTCCGTTT TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr15:31341630_31341631insCTCCGTTT uc021sia.1 - 11 1884_1885 c.1570_1571insAAACGGAG c.(1570-1572)gtgfs p.V524fs TRPM1_uc010azy.3_Frame_Shift_Ins_p.V392fs|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Frame_Shift_Ins_p.V507fs|TRPM1_uc001zfm.3_Frame_Shift_Ins_p.V485fs NM_001252020 NP_001238949 Q7Z4N2 TRPM1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA. 485 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity p.P524L(1) 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) TTGCATGTTCACTCCGTTTTCA 0.495 --- 127 --- --- 7 --- TAOK2 9344 broad.mit.edu 37 16 29990310 29990310 + Frame_Shift_Del DEL T - - TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr16:29990310delT uc010bzm.2 + 4 403 c.368delT c.(367-369)cttfs p.L123fs BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Frame_Shift_Del_p.L123fs|TAOK2_uc021tgf.1_Frame_Shift_Del_p.L123fs|TAOK2_uc002dva.2_Frame_Shift_Del_p.L123fs|TAOK2_uc002dvc.2_Frame_Shift_Del_p.L123fs|TAOK2_uc002dvd.2_5'Flank NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA. 123 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 AAGAAACCCCTTCAGGAGGTA 0.572 --- 129 --- --- 32 --- PHF5A 84844 broad.mit.edu 37 22 41863532 41863532 + Frame_Shift_Del DEL G - - TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e9f07ec-7d32-4911-b6f8-d33f2f5b07dd 690d6c02-e369-4216-9557-5cf4d697ebb0 g.chr22:41863532delG uc003bab.3 - 2 214 c.163delC c.(163-165)cagfs p.Q55fs ACO2_uc003bac.3_5'Flank NM_032758 NP_116147 Q7RTV0 PHF5A_HUMAN Homo sapiens PHD finger protein 5A (PHF5A), mRNA. 55 nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent U12-type spliceosomal complex|U2 snRNP|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(1) 4 CAGCGCCCCTGGTAAGATCCA 0.498 --- 80 --- --- 8 ---