Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut FCRLA 84824 broad.mit.edu 37 1 161683034 161683034 + Missense_Mutation SNP C C A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr1:161683034C>A ENST00000540926.1 + 6 1255 c.962C>A c.(961-963)cCt>cAt p.P321H FCRLA_ENST00000367950.1_Missense_Mutation_p.P108H|FCRLA_ENST00000546024.1_Missense_Mutation_p.P243H|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198H|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148H|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321H|FCRLA_ENST00000367959.2_Missense_Mutation_p.P338H|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181H|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000349527.4_Missense_Mutation_p.P220H|FCRLA_ENST00000309691.6_Missense_Mutation_p.P226H|FCRLA_ENST00000236938.6_Missense_Mutation_p.P332H|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192H|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97H Q7L513 FCRLA_HUMAN Fc receptor-like A 315 cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) ATGCCAGATCCTCATCTGTAT 0.572000 3 53 0.00024832 0.000276538 0.150653 1 0 GPR128 84873 broad.mit.edu 37 3 100368589 100368589 + Silent SNP C C T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr3:100368589C>T ENST00000273352.3 + 11 1585 c.1317C>T c.(1315-1317)aaC>aaT p.N439N GPR128_ENST00000475887.1_Silent_p.N144N NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 439 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TATTATCCAACGTTGGATGTG 0.373000 5 110 0 0 0.248553 0 0 SIRT1 23411 broad.mit.edu 37 10 69676124 69676124 + Missense_Mutation SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr10:69676124G>A ENST00000212015.6 + 9 2071 c.2018G>A c.(2017-2019)aGt>aAt p.S673N SIRT1_ENST00000432464.1_Missense_Mutation_p.S378N|SIRT1_ENST00000406900.1_Missense_Mutation_p.S370N|SIRT1_ENST00000403579.1_Missense_Mutation_p.S370N NM_012238.4 NP_036370.2 Q96EB6 SIRT1_HUMAN sirtuin 1 673 apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 TCTTGTGGCAGTAACAGTGAT 0.413000 3 87 0 0 0.115264 0 0 AGPAT3 56894 broad.mit.edu 37 21 45379682 45379682 + Silent SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr21:45379682G>A ENST00000398063.2 + 2 612 c.120G>A c.(118-120)ccG>ccA p.P40P AGPAT3_ENST00000398061.1_Silent_p.P40P|AGPAT3_ENST00000291572.8_Silent_p.P40P|AGPAT3_ENST00000546158.1_Silent_p.P40P|AGPAT3_ENST00000327505.2_Silent_p.P40P|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.P40P NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 40 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) CGCTCTGGCCGGTCAGCAAGC 0.647000 4 59 0 0 0.150653 0 0 SLC15A1 6564 broad.mit.edu 37 13 99354751 99354751 + Silent SNP T T C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr13:99354751T>C ENST00000376503.5 - 18 1504 c.1449A>G c.(1447-1449)aaA>aaG p.K483K NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 483 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CATTTTCCCCTTTTTCTGGCT 0.284000 3 152 0 0 0.184627 0 0 SUMO3 6612 broad.mit.edu 37 21 46233855 46233855 + Silent SNP C C T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr21:46233855C>T ENST00000411651.2 - 2 298 c.186G>A c.(184-186)gtG>gtA p.V62V SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000397898.3_Intron P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 50 Ubiquitin-like. protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) CCAGTGCGCACACGGGGAGGC 0.652000 3 33 0 0 0.115264 0 0 CCDC132 55610 broad.mit.edu 37 7 92883177 92883177 + Missense_Mutation SNP T T G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr7:92883177T>G ENST00000544910.1 + 5 360 c.140T>G c.(139-141)cTt>cGt p.L47R CCDC132_ENST00000305866.5_Missense_Mutation_p.L77R|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.L77R NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 77 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) CTGTAGAAGCTTCCACCTGTT 0.338000 10 12 0 0 0.435327 0 0 CP 1356 broad.mit.edu 37 3 148924112 148924112 + Missense_Mutation SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr3:148924112A>G ENST00000264613.6 - 6 1313 c.1051T>C c.(1051-1053)Ttt>Ctt p.F351L NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 351 F5/8 type A 1.|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ACCTGGAAAAAGGCTTGCAAA 0.433000 3 140 0 0 0.184627 0 0 SNCG 6623 broad.mit.edu 37 10 88718535 88718535 + Silent SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr10:88718535G>A ENST00000372017.3 + 1 123 c.81G>A c.(79-81)acG>acA p.T27T SNCG_ENST00000348795.4_Silent_p.T27T NM_003087.2 NP_003078.2 O76070 SYUG_HUMAN synuclein, gamma (breast cancer-specific protein 1) 27 4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4). microtubule organizing center|perinuclear region of cytoplasm|spindle protein binding endometrium(1)|skin(1) 2 AGGGGGTGACGGAAGCAGCTG 0.597000 3 69 0 0 0.217242 0 0 STK19 8859 broad.mit.edu 37 6 31946702 31946702 + Missense_Mutation SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr6:31946702A>G ENST00000375331.2 + 4 756 c.590A>G c.(589-591)gAg>gGg p.E197G STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.E197G NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 197 QGE -> GQR (in Ref. 6; AAA99716). nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GAGCAGGGGGAGATCAGAATC 0.532000 3 66 0 0 0.115264 0 0 TPST2 8459 broad.mit.edu 37 22 26937482 26937482 + Missense_Mutation SNP G G C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr22:26937482G>C ENST00000338754.4 - 3 385 c.115C>G c.(115-117)Cgg>Ggg p.R39G TPST2_ENST00000398110.2_Missense_Mutation_p.R39G|TPST2_ENST00000403880.1_Missense_Mutation_p.R39G NM_003595.3 NP_003586.3 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 39 peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1)|large_intestine(1)|lung(5) 7 CGGGGGCTCCGCAGGCCCGCC 0.701000 3 41 0 0 0.115264 0 0 ELP5 23587 broad.mit.edu 37 17 7155834 7155834 + Missense_Mutation SNP G G C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr17:7155834G>C ENST00000574993.1 + 1 230 c.13G>C c.(13-15)Gag>Cag p.E5Q ELP5_ENST00000573657.1_Missense_Mutation_p.E5Q|ELP5_ENST00000354429.2_Missense_Mutation_p.E5Q|ELP5_ENST00000396627.2_Missense_Mutation_p.E5Q|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Missense_Mutation_p.E5Q|ELP5_ENST00000396628.2_Missense_Mutation_p.E5Q|ELP5_ENST00000574255.1_Missense_Mutation_p.E5Q elongator acetyltransferase complex subunit 5 GACGCCATCAGAGGGCGCCAG 0.627000 3 31 0 0 0.150653 0 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr11:124857495A>C ENST00000529051.1 + 8 1632 c.1373A>C c.(1372-1374)cAc>cCc p.H458P CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418000 3 106 0 0 0.115264 0 0 LHX1 3975 broad.mit.edu 37 17 35297661 35297661 + Missense_Mutation SNP A A T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr17:35297661A>T ENST00000254457.5 + 2 1656 c.245A>T c.(244-246)aAa>aTa p.K82I RP11-445F12.2_ENST00000607336.1_RNA NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 82 LIM zinc-binding 2. cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) GCGCGGAGCAAAGTGTTTCAC 0.587000 3 21 0 0 0.115264 0 0 ATP1A2 477 broad.mit.edu 37 1 160098456 160098456 + Silent SNP G G C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr1:160098456G>C ENST00000361216.3 + 9 1121 c.1032G>C c.(1030-1032)ctG>ctC p.L344L ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 344 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCCTGACCCTGACAGCCAAGC 0.572000 4 86 0 0 0.248553 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770237 31770237 + Silent SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr19:31770237A>G ENST00000240587.4 - 2 789 c.462T>C c.(460-462)agT>agC p.S154S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 154 Ser-rich. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) tgctgctgctactgctgctgc 0.607000 3 18 0 0 0.115264 0 0 FAT2 2196 broad.mit.edu 37 5 150922048 150922048 + Silent SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr5:150922048G>A ENST00000261800.5 - 9 8652 c.8640C>T c.(8638-8640)caC>caT p.H2880H NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2880 Cadherin 25. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGTCTGTCCGTGGTCATAGG 0.493000 4 144 0 0 0.184627 0 0 CTD-2620I22.1 0 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr19:53472914A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTTGATTTTCAATTAAAAACC 0.338000 4 27 0 0 0.150653 0 0 MT-ND5 4540 broad.mit.edu 37 MT 14132 14132 + Missense_Mutation SNP T T C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chrM:14132T>C ENST00000361567.2 + 1 1796 c.1796T>C c.(1795-1797)cTa>cCa p.L599P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 599 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CATCCTAACCCTACTCCTAAT 0.398000 2 2 0 0 0.115264 0 0 ANK2 287 broad.mit.edu 37 4 114277273 114277273 + Missense_Mutation SNP C C T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr4:114277273C>T ENST00000357077.4 + 38 7552 c.7499C>T c.(7498-7500)aCg>aTg p.T2500M ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2467M NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2467 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAACTCTTGACGGAAGTGGCC 0.532000 13 91 0 0 0.435327 0 0 CASKIN1 57524 broad.mit.edu 37 16 2233835 2233835 + Silent SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr16:2233835G>A ENST00000343516.6 - 15 1616 c.1524C>T c.(1522-1524)ccC>ccT p.P508P CASKIN1_ENST00000564289.1_Intron NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 508 SAM 1. signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 AGCTCACCTCGGGAGTCATGC 0.667000 3 86 0 0 0.150653 0 0 ANKAR 150709 broad.mit.edu 37 2 190584454 190584454 + Missense_Mutation SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr2:190584454G>A ENST00000520309.1 + 11 2469 c.2381G>A c.(2380-2382)tGt>tAt p.C794Y ANKAR_ENST00000431575.2_Missense_Mutation_p.C723Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.C794Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.C558Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.C794Y NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 794 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CTACTGGTTTGTGATGAGCCT 0.398000 23 41 0 0 0.654019 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17953976 17953976 + Missense_Mutation SNP G G T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr1:17953976G>T ENST00000361221.3 + 15 1721 c.1562G>T c.(1561-1563)aGt>aTt p.S521I ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S229I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S521I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S279I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S299I NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 521 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AAGAGCGTCAGTGACCGCAGC 0.667000 3 29 0.00024832 0.000276538 0.150653 1 0 LENG8 114823 broad.mit.edu 37 19 54969308 54969308 + Missense_Mutation SNP C C G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr19:54969308C>G ENST00000326764.5 + 14 2408 c.1929C>G c.(1927-1929)tgC>tgG p.C643W LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 606 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) TTAACCAGTGCCAGACGCAGC 0.572000 13 123 0 0 0.557998 0 0 SGK3 23678 broad.mit.edu 37 8 67705990 67705990 + Missense_Mutation SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr8:67705990A>G ENST00000396596.1 + 2 233 c.19A>G c.(19-21)Atg>Gtg p.M7V SGK3_ENST00000521198.2_Missense_Mutation_p.M7V|SGK3_ENST00000345714.4_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000520044.1_3'UTR|SGK3_ENST00000520976.1_Missense_Mutation_p.M7V|SGK3_ENST00000522398.1_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.M7V NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 7 cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) AGATCACACCATGGACTACAA 0.403000 16 27 0 0 0.608945 0 0 SCNN1G 6340 broad.mit.edu 37 16 23200962 23200962 + Missense_Mutation SNP C C G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr16:23200962C>G ENST00000300061.2 + 3 731 c.588C>G c.(586-588)atC>atG p.I196M NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 196 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TCATGCACATCGAGTCCAAGC 0.517000 5 284 0 0 0.217242 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101775573 101775573 + Silent SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr11:101775573A>G ENST00000334289.3 - 5 1006 c.411T>C c.(409-411)ccT>ccC p.P137P NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 137 signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TGTGAGGAAAAGGATCCAGCT 0.358000 3 72 0 0 0.184627 0 0 CELSR1 9620 broad.mit.edu 37 22 46785281 46785281 + Missense_Mutation SNP C C A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr22:46785281C>A ENST00000262738.3 - 18 6460 c.6461G>T c.(6460-6462)cGc>cTc p.R2154L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2154 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GTAGGCCGTGCGCACGTCATT 0.672000 3 38 0.115264 0.120169 0.115264 1 0 SEMA3A 10371 broad.mit.edu 37 7 83640389 83640389 + Missense_Mutation SNP T T G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr7:83640389T>G ENST00000265362.3 - 9 1258 c.944A>C c.(943-945)aAc>aCc p.N315T SEMA3A_ENST00000436949.1_Missense_Mutation_p.N315T NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 315 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ATCTTTAAAGTTCATTAGGAA 0.299000 6 44 0 0 0.217242 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770234 31770234 + Silent SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr19:31770234G>A ENST00000240587.4 - 2 792 c.465C>T c.(463-465)agC>agT p.S155S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 155 Ser-rich. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S155S(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) tgctgctgctgctactgctgc 0.612000 3 17 0 0 0.115264 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 5 200 0 0 0.217242 0 0 LRFN5 145581 broad.mit.edu 37 14 42356070 42356070 + Missense_Mutation SNP C C A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr14:42356070C>A ENST00000554171.1 + 5 2674 c.242C>A c.(241-243)aCt>aAt p.T81N LRFN5_ENST00000554120.1_Missense_Mutation_p.T81N|LRFN5_ENST00000298119.4_Missense_Mutation_p.T81N Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 81 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GTGGACCTGACTCTATCCAGG 0.373000 HNSCC(30;0.082) 27 36 5.45727e-16 6.36681e-16 0.729181 1 0 XIST 0 broad.mit.edu 37 X 73066504 73066504 + RNA SNP A A T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chrX:73066504A>T ENST00000429829.1 - 0 6084 NR_001564.2 GGAAGGGAAAAGTGGGGATGA 0.478000 4 19 0 0 0.217242 0 0 ANKAR 150709 broad.mit.edu 37 2 190557050 190557050 + Missense_Mutation SNP T T C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr2:190557050T>C ENST00000520309.1 + 4 1197 c.1109T>C c.(1108-1110)tTt>tCt p.F370S ANKAR_ENST00000313581.4_Missense_Mutation_p.F370S|ANKAR_ENST00000431575.2_Missense_Mutation_p.F299S|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Missense_Mutation_p.F370S|ANKAR_ENST00000281412.6_Missense_Mutation_p.F134S NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 370 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TGCCAGAATTTTCACTACAAA 0.318000 9 40 0 0 0.361761 0 0 GALNT10 55568 broad.mit.edu 37 5 153760070 153760070 + Missense_Mutation SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr5:153760070G>A ENST00000297107.6 + 6 954 c.817G>A c.(817-819)Gac>Aac p.D273N SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.D211N|GALNT10_ENST00000425427.2_Missense_Mutation_p.D273N|GALNT10_ENST00000519544.1_3'UTR NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 273 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TGACCATGACGACTTTCGGTA 0.532000 17 185 0 0 0.575678 0 0 RNF43 54894 broad.mit.edu 37 17 56434877 56434877 + Missense_Mutation SNP C C G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr17:56434877C>G ENST00000584437.1 - 8 4215 c.2260G>C c.(2260-2262)Ggc>Cgc p.G754R BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.G627R|RNF43_ENST00000577625.1_Missense_Mutation_p.G627R|RNF43_ENST00000583753.1_Missense_Mutation_p.G713R|RNF43_ENST00000577716.1_Missense_Mutation_p.G754R|RNF43_ENST00000500597.2_Missense_Mutation_p.G713R|RNF43_ENST00000407977.2_Missense_Mutation_p.G754R Q68DV7 RNF43_HUMAN ring finger protein 43 754 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CATGGCCTGCCCTCTGCGGTG 0.597000 16 99 0 0 0.539581 0 0 ARMS2 387715 broad.mit.edu 37 10 124214267 124214267 + Silent SNP G G T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr10:124214267G>T ENST00000528446.1 + 1 99 c.24G>T c.(22-24)ccG>ccT p.P8P NM_001099667.1 NP_001093137.1 P0C7Q2 ARMS2_HUMAN age-related maculopathy susceptibility 2 8 retina homeostasis mitochondrion|photoreceptor inner segment ovary(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACCCAGGACCGATGGTAACTG 0.572000 3 109 0.115264 0.120169 0.115264 1 0 CSPG4 1464 broad.mit.edu 37 15 75982728 75982728 + Silent SNP T T C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr15:75982728T>C ENST00000308508.5 - 3 770 c.678A>G c.(676-678)ctA>ctG p.L226L NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 226 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GTGTAAACTCTAGGGTTCCTT 0.607000 3 24 0 0 0.184627 0 0 PTPRA 0 broad.mit.edu 37 20 2988040 2988040 + Missense_Mutation SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr20:2988040G>A ENST00000216877.6 + 10 1253 c.853G>A c.(853-855)Gat>Aat p.D285N PTPRA_ENST00000399903.2_Missense_Mutation_p.D294N|PTPRA_ENST00000358719.4_Missense_Mutation_p.D150N|PTPRA_ENST00000380393.3_Missense_Mutation_p.D294N|PTPRA_ENST00000425918.2_Missense_Mutation_p.D305N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D285N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D285N NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 294 Tyrosine-protein phosphatase 1. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TCCAGATTCTGATTACATCAA 0.448000 48 95 0 0 0.870114 0 0 SERPINA6 866 broad.mit.edu 37 14 94780979 94780979 + Missense_Mutation SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr14:94780979G>A ENST00000341584.3 - 2 153 c.7C>T c.(7-9)Ctc>Ttc p.L3F NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 3 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TACAGGAGGAGTGGCATTGTC 0.547000 14 101 0 0 0.539581 0 0 FCRLA 84824 broad.mit.edu 37 1 161683034 161683034 + Missense_Mutation SNP C C A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr1:161683034C>A ENST00000367959.2 + 6 1255 c.1013C>A c.(1012-1014)cCt>cAt p.P338H FCRLA_ENST00000349527.4_Missense_Mutation_p.P220H|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321H|FCRLA_ENST00000309691.6_Missense_Mutation_p.P226H|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192H|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181H|FCRLA_ENST00000540926.1_Missense_Mutation_p.P321H|FCRLA_ENST00000546024.1_Missense_Mutation_p.P243H|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198H|FCRLA_ENST00000236938.6_Missense_Mutation_p.P332H|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148H|FCRLA_ENST00000367950.1_Missense_Mutation_p.P108H|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97H|FCRLA_ENST00000470841.1_3'UTR NM_001184866.1 NP_001171795.1 Q7L513 FCRLA_HUMAN Fc receptor-like A 315 cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) ATGCCAGATCCTCATCTGTAT 0.572000 3 53 0.00024832 0.000274737 0.150653 1 0 GPR128 84873 broad.mit.edu 37 3 100368589 100368589 + Silent SNP C C T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr3:100368589C>T ENST00000273352.3 + 11 1585 c.1317C>T c.(1315-1317)aaC>aaT p.N439N GPR128_ENST00000475887.1_Silent_p.N144N NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 439 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TATTATCCAACGTTGGATGTG 0.373000 5 110 0 0 0.248553 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 7 26 0 0 0.361761 0 0 SIRT1 23411 broad.mit.edu 37 10 69676124 69676124 + Missense_Mutation SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr10:69676124G>A ENST00000212015.6 + 9 2071 c.2018G>A c.(2017-2019)aGt>aAt p.S673N SIRT1_ENST00000403579.1_Missense_Mutation_p.S370N|SIRT1_ENST00000406900.1_Missense_Mutation_p.S370N|SIRT1_ENST00000432464.1_Missense_Mutation_p.S378N NM_012238.4 NP_036370.2 Q96EB6 SIRT1_HUMAN sirtuin 1 673 apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 TCTTGTGGCAGTAACAGTGAT 0.413000 3 87 0 0 0.115264 0 0 AGPAT3 56894 broad.mit.edu 37 21 45379682 45379682 + Silent SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr21:45379682G>A ENST00000398063.2 + 2 612 c.120G>A c.(118-120)ccG>ccA p.P40P AGPAT3_ENST00000327505.2_Silent_p.P40P|AGPAT3_ENST00000291572.8_Silent_p.P40P|AGPAT3_ENST00000398058.1_Silent_p.P40P|AGPAT3_ENST00000546158.1_Silent_p.P40P|AGPAT3_ENST00000398061.1_Silent_p.P40P|AGPAT3_ENST00000479117.1_3'UTR NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 40 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) CGCTCTGGCCGGTCAGCAAGC 0.647000 4 59 0 0 0.150653 0 0 SLC15A1 6564 broad.mit.edu 37 13 99354751 99354751 + Silent SNP T T C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr13:99354751T>C ENST00000376503.5 - 18 1504 c.1449A>G c.(1447-1449)aaA>aaG p.K483K NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 483 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CATTTTCCCCTTTTTCTGGCT 0.284000 3 152 0 0 0.184627 0 0 SUMO3 6612 broad.mit.edu 37 21 46233855 46233855 + Silent SNP C C T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr21:46233855C>T ENST00000411651.2 - 2 298 c.186G>A c.(184-186)gtG>gtA p.V62V SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397898.3_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000479153.1_Intron P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 50 Ubiquitin-like. protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) CCAGTGCGCACACGGGGAGGC 0.652000 3 33 0 0 0.115264 0 0 CCDC132 55610 broad.mit.edu 37 7 92883177 92883177 + Missense_Mutation SNP T T G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr7:92883177T>G ENST00000544910.1 + 5 360 c.140T>G c.(139-141)cTt>cGt p.L47R CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.L77R|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.L77R NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 77 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) CTGTAGAAGCTTCCACCTGTT 0.338000 10 12 0 0 0.435327 0 0 CP 1356 broad.mit.edu 37 3 148924112 148924112 + Missense_Mutation SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr3:148924112A>G ENST00000264613.6 - 6 1313 c.1051T>C c.(1051-1053)Ttt>Ctt p.F351L NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 351 F5/8 type A 1.|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ACCTGGAAAAAGGCTTGCAAA 0.433000 3 140 0 0 0.184627 0 0 SNCG 6623 broad.mit.edu 37 10 88718535 88718535 + Silent SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr10:88718535G>A ENST00000372017.3 + 1 123 c.81G>A c.(79-81)acG>acA p.T27T SNCG_ENST00000348795.4_Silent_p.T27T NM_003087.2 NP_003078.2 O76070 SYUG_HUMAN synuclein, gamma (breast cancer-specific protein 1) 27 4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4). microtubule organizing center|perinuclear region of cytoplasm|spindle protein binding endometrium(1)|skin(1) 2 AGGGGGTGACGGAAGCAGCTG 0.597000 3 69 0 0 0.217242 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 3 86 0 0 0.184627 0 0 STK19 8859 broad.mit.edu 37 6 31946702 31946702 + Missense_Mutation SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr6:31946702A>G ENST00000375331.2 + 4 756 c.590A>G c.(589-591)gAg>gGg p.E197G STK19_ENST00000375333.2_Missense_Mutation_p.E197G|STK19_ENST00000463823.1_3'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 197 QGE -> GQR (in Ref. 6; AAA99716). nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GAGCAGGGGGAGATCAGAATC 0.532000 3 66 0 0 0.115264 0 0 TPST2 8459 broad.mit.edu 37 22 26937482 26937482 + Missense_Mutation SNP G G C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr22:26937482G>C ENST00000338754.4 - 3 385 c.115C>G c.(115-117)Cgg>Ggg p.R39G TPST2_ENST00000403880.1_Missense_Mutation_p.R39G|TPST2_ENST00000398110.2_Missense_Mutation_p.R39G NM_003595.3 NP_003586.3 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 39 peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1)|large_intestine(1)|lung(5) 7 CGGGGGCTCCGCAGGCCCGCC 0.701000 3 41 0 0 0.115264 0 0 ELP5 23587 broad.mit.edu 37 17 7155834 7155834 + Missense_Mutation SNP G G C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr17:7155834G>C ENST00000574993.1 + 1 230 c.13G>C c.(13-15)Gag>Cag p.E5Q ELP5_ENST00000573657.1_Missense_Mutation_p.E5Q|ELP5_ENST00000396628.2_Missense_Mutation_p.E5Q|ELP5_ENST00000396627.2_Missense_Mutation_p.E5Q|ELP5_ENST00000574255.1_Missense_Mutation_p.E5Q|ELP5_ENST00000356683.2_Missense_Mutation_p.E5Q|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.E5Q elongator acetyltransferase complex subunit 5 GACGCCATCAGAGGGCGCCAG 0.627000 3 31 0 0 0.150653 0 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr11:124857495A>C ENST00000529051.1 + 8 1632 c.1373A>C c.(1372-1374)cAc>cCc p.H458P CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418000 3 106 0 0 0.115264 0 0 LHX1 3975 broad.mit.edu 37 17 35297661 35297661 + Missense_Mutation SNP A A T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr17:35297661A>T ENST00000254457.5 + 2 1656 c.245A>T c.(244-246)aAa>aTa p.K82I RP11-445F12.2_ENST00000607336.1_RNA NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 82 LIM zinc-binding 2. cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) GCGCGGAGCAAAGTGTTTCAC 0.587000 3 21 0 0 0.115264 0 0 ATP1A2 477 broad.mit.edu 37 1 160098456 160098456 + Silent SNP G G C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr1:160098456G>C ENST00000361216.3 + 9 1121 c.1032G>C c.(1030-1032)ctG>ctC p.L344L ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L344L NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 344 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCCTGACCCTGACAGCCAAGC 0.572000 4 86 0 0 0.248553 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770237 31770237 + Silent SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr19:31770237A>G ENST00000240587.4 - 2 789 c.462T>C c.(460-462)agT>agC p.S154S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 154 Ser-rich. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) tgctgctgctactgctgctgc 0.607000 3 18 0 0 0.115264 0 0 FAT2 2196 broad.mit.edu 37 5 150922048 150922048 + Silent SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr5:150922048G>A ENST00000261800.5 - 9 8652 c.8640C>T c.(8638-8640)caC>caT p.H2880H NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2880 Cadherin 25. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGTCTGTCCGTGGTCATAGG 0.493000 4 144 0 0 0.184627 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr10:37431050G>C ENST00000374660.1 + 7 1156 c.1057G>C c.(1057-1059)Gca>Cca p.A353P ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A353P(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGGCAGCAAAAGG 0.408000 3 74 0 0 0.150653 0 0 ANK2 287 broad.mit.edu 37 4 114277273 114277273 + Missense_Mutation SNP C C T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr4:114277273C>T ENST00000357077.4 + 38 7552 c.7499C>T c.(7498-7500)aCg>aTg p.T2500M ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2467M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2467 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAACTCTTGACGGAAGTGGCC 0.532000 13 91 0 0 0.435327 0 0 CSPG4 1464 broad.mit.edu 37 15 75982728 75982728 + Silent SNP T T C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr15:75982728T>C ENST00000308508.5 - 3 770 c.678A>G c.(676-678)ctA>ctG p.L226L NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 226 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GTGTAAACTCTAGGGTTCCTT 0.607000 3 24 0 0 0.184627 0 0 CELSR1 9620 broad.mit.edu 37 22 46785281 46785281 + Missense_Mutation SNP C C A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr22:46785281C>A ENST00000262738.3 - 18 6460 c.6461G>T c.(6460-6462)cGc>cTc p.R2154L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2154 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GTAGGCCGTGCGCACGTCATT 0.672000 3 38 0.115264 0.119875 0.115264 1 0 CASKIN1 57524 broad.mit.edu 37 16 2233835 2233835 + Silent SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr16:2233835G>A ENST00000343516.6 - 15 1616 c.1524C>T c.(1522-1524)ccC>ccT p.P508P CASKIN1_ENST00000564289.1_Intron NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 508 SAM 1. signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 AGCTCACCTCGGGAGTCATGC 0.667000 3 86 0 0 0.150653 0 0 ANKAR 150709 broad.mit.edu 37 2 190584454 190584454 + Missense_Mutation SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr2:190584454G>A ENST00000520309.1 + 11 2469 c.2381G>A c.(2380-2382)tGt>tAt p.C794Y ANKAR_ENST00000313581.4_Missense_Mutation_p.C794Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.C723Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.C558Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.C794Y NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 794 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CTACTGGTTTGTGATGAGCCT 0.398000 23 41 0 0 0.654019 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17953976 17953976 + Missense_Mutation SNP G G T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr1:17953976G>T ENST00000361221.3 + 15 1721 c.1562G>T c.(1561-1563)aGt>aTt p.S521I ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S229I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S279I|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S299I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S521I NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 521 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AAGAGCGTCAGTGACCGCAGC 0.667000 3 29 0.00024832 0.000274737 0.150653 1 0 LENG8 114823 broad.mit.edu 37 19 54969308 54969308 + Missense_Mutation SNP C C G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr19:54969308C>G ENST00000326764.5 + 14 2408 c.1929C>G c.(1927-1929)tgC>tgG p.C643W LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 606 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) TTAACCAGTGCCAGACGCAGC 0.572000 13 123 0 0 0.557998 0 0 SGK3 23678 broad.mit.edu 37 8 67705990 67705990 + Missense_Mutation SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr8:67705990A>G ENST00000396596.1 + 2 233 c.19A>G c.(19-21)Atg>Gtg p.M7V SGK3_ENST00000345714.4_Missense_Mutation_p.M7V|SGK3_ENST00000521198.2_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000520044.1_3'UTR|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.M7V|SGK3_ENST00000522398.1_Missense_Mutation_p.M7V|SGK3_ENST00000520976.1_Missense_Mutation_p.M7V NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 7 cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) AGATCACACCATGGACTACAA 0.403000 16 27 0 0 0.608945 0 0 SCNN1G 6340 broad.mit.edu 37 16 23200962 23200962 + Missense_Mutation SNP C C G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr16:23200962C>G ENST00000300061.2 + 3 731 c.588C>G c.(586-588)atC>atG p.I196M NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 196 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TCATGCACATCGAGTCCAAGC 0.517000 5 284 0 0 0.217242 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101775573 101775573 + Silent SNP A A G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr11:101775573A>G ENST00000334289.3 - 5 1006 c.411T>C c.(409-411)ccT>ccC p.P137P NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 137 signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TGTGAGGAAAAGGATCCAGCT 0.358000 3 72 0 0 0.184627 0 0 AC015818.3 0 broad.mit.edu 37 17 20424245 20424245 + RNA SNP C C T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr17:20424245C>T ENST00000582261.1 - 0 1810 GCTCCAGCTGCGTCTTCACGT 0.632000 3 5 0 0 0.184627 0 0 SEMA3A 10371 broad.mit.edu 37 7 83640389 83640389 + Missense_Mutation SNP T T G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr7:83640389T>G ENST00000265362.3 - 9 1258 c.944A>C c.(943-945)aAc>aCc p.N315T SEMA3A_ENST00000436949.1_Missense_Mutation_p.N315T NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 315 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ATCTTTAAAGTTCATTAGGAA 0.299000 6 44 0 0 0.217242 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770234 31770234 + Silent SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr19:31770234G>A ENST00000240587.4 - 2 792 c.465C>T c.(463-465)agC>agT p.S155S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 155 Ser-rich. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S155S(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) tgctgctgctgctactgctgc 0.612000 3 17 0 0 0.115264 0 0 LRFN5 145581 broad.mit.edu 37 14 42356070 42356070 + Missense_Mutation SNP C C A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr14:42356070C>A ENST00000554171.1 + 5 2674 c.242C>A c.(241-243)aCt>aAt p.T81N LRFN5_ENST00000298119.4_Missense_Mutation_p.T81N|LRFN5_ENST00000554120.1_Missense_Mutation_p.T81N Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 81 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GTGGACCTGACTCTATCCAGG 0.373000 HNSCC(30;0.082) 27 36 5.45727e-16 6.30618e-16 0.729181 1 0 XIST 0 broad.mit.edu 37 X 73066504 73066504 + RNA SNP A A T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chrX:73066504A>T ENST00000429829.1 - 0 6084 NR_001564.2 GGAAGGGAAAAGTGGGGATGA 0.478000 4 19 0 0 0.217242 0 0 ANKAR 150709 broad.mit.edu 37 2 190557050 190557050 + Missense_Mutation SNP T T C TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr2:190557050T>C ENST00000520309.1 + 4 1197 c.1109T>C c.(1108-1110)tTt>tCt p.F370S ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_Missense_Mutation_p.F134S|ANKAR_ENST00000313581.4_Missense_Mutation_p.F370S|ANKAR_ENST00000431575.2_Missense_Mutation_p.F299S|ANKAR_ENST00000438402.2_Missense_Mutation_p.F370S NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 370 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TGCCAGAATTTTCACTACAAA 0.318000 9 40 0 0 0.361761 0 0 GALNT10 55568 broad.mit.edu 37 5 153760070 153760070 + Missense_Mutation SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr5:153760070G>A ENST00000297107.6 + 6 954 c.817G>A c.(817-819)Gac>Aac p.D273N SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Missense_Mutation_p.D211N|GALNT10_ENST00000425427.2_Missense_Mutation_p.D273N NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 273 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TGACCATGACGACTTTCGGTA 0.532000 17 185 0 0 0.575678 0 0 RNF43 54894 broad.mit.edu 37 17 56434877 56434877 + Missense_Mutation SNP C C G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr17:56434877C>G ENST00000584437.1 - 8 4215 c.2260G>C c.(2260-2262)Ggc>Cgc p.G754R RNF43_ENST00000407977.2_Missense_Mutation_p.G754R|RNF43_ENST00000583753.1_Missense_Mutation_p.G713R|RNF43_ENST00000500597.2_Missense_Mutation_p.G713R|RNF43_ENST00000577625.1_Missense_Mutation_p.G627R|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.G754R|RNF43_ENST00000581868.1_Missense_Mutation_p.G627R Q68DV7 RNF43_HUMAN ring finger protein 43 754 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CATGGCCTGCCCTCTGCGGTG 0.597000 16 99 0 0 0.539581 0 0 ARMS2 387715 broad.mit.edu 37 10 124214267 124214267 + Silent SNP G G T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr10:124214267G>T ENST00000528446.1 + 1 99 c.24G>T c.(22-24)ccG>ccT p.P8P NM_001099667.1 NP_001093137.1 P0C7Q2 ARMS2_HUMAN age-related maculopathy susceptibility 2 8 retina homeostasis mitochondrion|photoreceptor inner segment ovary(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACCCAGGACCGATGGTAACTG 0.572000 3 109 0.115264 0.119875 0.115264 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50659212 50659212 + Silent SNP A A G rs141527317 TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr22:50659212A>G ENST00000439308.2 - 16 4068 c.3576T>C c.(3574-3576)tcT>tcC p.S1192S TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1192 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCTGGCATCAGACACGTGTC 0.617000 4 90 0 0 0.184627 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 6 26 0 0 0.307466 0 0 PTPRA 0 broad.mit.edu 37 20 2988040 2988040 + Missense_Mutation SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr20:2988040G>A ENST00000216877.6 + 10 1253 c.853G>A c.(853-855)Gat>Aat p.D285N PTPRA_ENST00000358719.4_Missense_Mutation_p.D150N|PTPRA_ENST00000425918.2_Missense_Mutation_p.D305N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D285N|PTPRA_ENST00000399903.2_Missense_Mutation_p.D294N|PTPRA_ENST00000380393.3_Missense_Mutation_p.D294N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D285N NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 294 Tyrosine-protein phosphatase 1. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TCCAGATTCTGATTACATCAA 0.448000 48 95 0 0 0.870114 0 0 SERPINA6 866 broad.mit.edu 37 14 94780979 94780979 + Missense_Mutation SNP G G A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr14:94780979G>A ENST00000341584.3 - 2 153 c.7C>T c.(7-9)Ctc>Ttc p.L3F NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 3 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TACAGGAGGAGTGGCATTGTC 0.547000 14 101 0 0 0.539581 0 0 MAST2 23139 broad.mit.edu 37 1 46495849 46495849 + Frame_Shift_Del DEL T T - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr1:46495849delT ENST00000361297.2 + 21 2775 c.2492delT c.(2491-2493)ggfs p.V831fs MAST2_ENST00000372009.2_Frame_Shift_Del_p.V761fs|MAST2_ENST00000372008.1_Frame_Shift_Del_p.V716fs|MAST2_ENST00000477968.1_3'UTR NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 831 AGC-kinase C-terminal. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GAGGAAGAAGTGAGTGAGGAT 0.572 12 90 --- --- --- --- APOB 338 broad.mit.edu 37 2 21231438 21231440 + In_Frame_Del DEL GAG GAG - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr2:21231438_21231440delGAG ENST00000233242.1 - 26 8427_8429 c.8300_8302delCTC c.(8299-8304)ctt>c p.PL2767del NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2767 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATGTGAAAAGAGGAGATTGGAT 0.438 17 184 --- --- --- --- AC093838.4 0 broad.mit.edu 37 2 132266282 132266282 + RNA DEL G G - rs74537446 TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr2:132266282delG ENST00000438378.2 + 0 1234 NR_026922.1 GCTGGATGGTGGGAAGCAGAA 0.547 8 8 --- --- --- --- PIKFYVE 200576 broad.mit.edu 37 2 209163430 209163439 + Frame_Shift_Del DEL CATCTGTCAG CATCTGTCAG - rs150646524 TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr2:209163430_209163439delCATCTGTCAG ENST00000264380.4 + 8 1135_1144 c.977_986delCATCTGTCAG c.(976-987)atfs p.TSVS326fs PIKFYVE_ENST00000392202.3_Frame_Shift_Del_p.TSVS229fs|PIKFYVE_ENST00000407449.1_Frame_Shift_Del_p.TSVS326fs|PIKFYVE_ENST00000308862.6_Frame_Shift_Del_p.TSVS240fs NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 326 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding p.S327F(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TCATATGAGACATCTGTCAGTCCCCAGGCT 0.429 23 62 --- --- --- --- APC 324 broad.mit.edu 37 5 112175599 112175600 + Frame_Shift_Ins INS - - A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr5:112175599_112175600insA ENST00000457016.1 + 16 4688_4689 c.4308_4309insA c.(4306-4311)agaaacfs p.N1437fs APC_ENST00000508376.2_Frame_Shift_Ins_p.N1437fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.N1437fs|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1437 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 adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|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.S1436fs*37(3)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)|p.S1436fs*36(1)|p.S1436fs*33(1)|p.S1436fs*22(1)|p.K1437*(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) CAAGCAGAAGTAAAACACCTCC 0.480 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) 7 58 --- --- --- --- ATG16L2 89849 broad.mit.edu 37 11 72528863 72528865 + In_Frame_Del DEL AGG AGG - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr11:72528863_72528865delAGG ENST00000321297.5 + 3 419_421 c.281_283delAGG c.(280-285)cag>c p.QE94del ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 94 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GTGAAGTGGCAGGAGGAGGAGGA 0.591 7 89 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546788 11546790 + In_Frame_Del DEL GGA GGA - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr12:11546788_11546790delGGA ENST00000389362.4 - 3 257_259 c.222_224delTCC c.(220-225)cca>cc p.PP74del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGCTTTCCTGGAGGAGGTGGGG 0.601 7 308 --- --- --- --- SMCR7 0 broad.mit.edu 37 17 18167778 18167780 + In_Frame_Del DEL GCT GCT - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr17:18167778_18167780delGCT ENST00000323019.4 + 4 1276_1278 c.1065_1067delGCT c.(1063-1068)cgg>cg p.RL355del SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 355 integral to membrane protein binding p.L356R(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTCGCCGGCGGCTGCTGCTGCTG 0.685 7 75 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361740 9361741 + Frame_Shift_Ins INS - - T TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr19:9361740_9361741insT ENST00000456448.1 + 1 135_136 c.21_22insT c.(19-24)ctttttfs p.LF7fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TTCCAATTCTCTTTTTTTTTTT 0.386 3 6 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f 7f5954b3-ce60-414b-bd40-f46175ba19c4 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 7 74 --- --- --- --- MAST2 23139 broad.mit.edu 37 1 46495849 46495849 + Frame_Shift_Del DEL T T - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr1:46495849delT ENST00000361297.2 + 21 2775 c.2492delT c.(2491-2493)ggfs p.V831fs MAST2_ENST00000372008.1_Frame_Shift_Del_p.V716fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.V761fs|MAST2_ENST00000477968.1_3'UTR NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 831 AGC-kinase C-terminal. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GAGGAAGAAGTGAGTGAGGAT 0.572 12 90 --- --- --- --- APOB 338 broad.mit.edu 37 2 21231438 21231440 + In_Frame_Del DEL GAG GAG - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr2:21231438_21231440delGAG ENST00000233242.1 - 26 8427_8429 c.8300_8302delCTC c.(8299-8304)ctt>c p.PL2767del NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2767 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATGTGAAAAGAGGAGATTGGAT 0.438 17 184 --- --- --- --- PIKFYVE 200576 broad.mit.edu 37 2 209163430 209163439 + Frame_Shift_Del DEL CATCTGTCAG CATCTGTCAG - rs150646524 TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr2:209163430_209163439delCATCTGTCAG ENST00000264380.4 + 8 1135_1144 c.977_986delCATCTGTCAG c.(976-987)atfs p.TSVS326fs PIKFYVE_ENST00000392202.3_Frame_Shift_Del_p.TSVS229fs|PIKFYVE_ENST00000407449.1_Frame_Shift_Del_p.TSVS326fs|PIKFYVE_ENST00000308862.6_Frame_Shift_Del_p.TSVS240fs NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 326 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding p.S327F(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TCATATGAGACATCTGTCAGTCCCCAGGCT 0.429 23 62 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 11 53 --- --- --- --- APC 324 broad.mit.edu 37 5 112175599 112175600 + Frame_Shift_Ins INS - - A TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr5:112175599_112175600insA ENST00000457016.1 + 16 4688_4689 c.4308_4309insA c.(4306-4311)agaaacfs p.N1437fs CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Ins_p.N1437fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.N1437fs P25054 APC_HUMAN adenomatous polyposis coli 1437 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 adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|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.S1436fs*37(3)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)|p.S1436fs*36(1)|p.S1436fs*33(1)|p.S1436fs*22(1)|p.K1437*(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) CAAGCAGAAGTAAAACACCTCC 0.480 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) 7 58 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)del p.S691del NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 6 9 --- --- --- --- GNAS-AS1 0 broad.mit.edu 37 20 57405201 57405203 + RNA DEL ACC ACC - TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 997549f6-8dde-4b4a-b477-609a535b301f db9ab0ec-cd1f-4e69-935e-8e1665d07473 g.chr20:57405201_57405203delACC ENST00000424094.2 - 0 819 GNAS-AS1_ENST00000598163.1_RNA NR_002785.2 ccaccaccataccaccaccacca 0.527 3 3 --- --- --- ---