Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut BRPF3 27154 broad.mit.edu 37 6 36169144 36169144 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:36169144C>T uc003olv.4 + 1 1269 c.1045C>T c.(1045-1047)Cat>Tat p.H349Y BRPF3_uc010jwb.3_Missense_Mutation_p.H349Y|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.H349Y NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 349 histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CACAGCATTCCATGTGACATG 0.537000 24 16 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3007670 3007670 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:3007670G>A uc022brz.1 + 6 1100 c.964G>A c.(964-966)Gtg>Atg p.V322M ARSF_uc004cre.2_Missense_Mutation_p.V322M|ARSF_uc004crf.2_Missense_Mutation_p.V322M NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 322 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGACTCCATGGTGGGTAAGTC 0.488000 10 19 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 87917311 87917311 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:87917311G>A uc003ydy.2 + 2 209 c.161G>A c.(160-162)cGg>cAg p.R54Q NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA. 54 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TTTTTAAGCCGGAGTATGAGC 0.323000 9 8 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33291018 33291018 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:33291018C>T uc001wrq.3 + 12 4169 c.3999C>T c.(3997-3999)acC>acT p.T1333T NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 1333 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TTTCATCTACCAAATCTTTGC 0.428000 20 9 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61585212 61585212 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:61585212G>A uc010xev.2 + 3 338 c.248G>A c.(247-249)aGc>aAc p.S83N SERPINB2_uc010xew.2_Missense_Mutation_p.S83N NM_005024 NP_005015 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA. 98 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.M82I(1) NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TTCAACTTGAGCAACTCGGAA 0.338000 16 21 0 0 1 0 0 GJB6 10804 broad.mit.edu 37 13 20796893 20796893 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:20796893C>T uc001und.4 - 2 1114 c.727G>A c.(727-729)Gaa>Aaa p.E243K GJB6_uc001umz.4_Missense_Mutation_p.E243K|GJB6_uc001unb.4_Missense_Mutation_p.E243K|GJB6_uc001unc.4_Missense_Mutation_p.E243K|GJB6_uc001una.4_Missense_Mutation_p.E243K|GJB6_uc021rhb.1_Missense_Mutation_p.E243K NM_001110221 NP_006774 O95452 CXB6_HUMAN Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA. 243 cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) TCATTCATTTCATTCTGCTTA 0.413000 97 86 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6941017 6941017 + Missense_Mutation SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:6941017T>C uc001qra.1 + 6 1182 c.1148T>C c.(1147-1149)cTg>cCg p.L383P GPR162_uc001qrb.1_Missense_Mutation_p.L191P NM_014262 NP_055077 Q16538 GP162_HUMAN Homo sapiens leprecan-like 2 (LEPREL2), mRNA. 470 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CTCCGATCCCTGGGGGAGAAG 0.612000 11 4 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109526963 109526963 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:109526963C>T uc010fjn.3 - 8 1399 c.852G>A c.(850-852)aaG>aaA p.K284K EDAR_uc010yws.2_Silent_p.K284K|EDAR_uc002teq.4_Silent_p.K252K NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 252 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CAAATTCATCCTTCTCGGAGA 0.552000 15 8 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101590581 101590581 + Silent SNP T A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:101590581T>A uc001kqf.2 + 20 2995 c.2856T>A c.(2854-2856)atT>atA p.I952I NM_000392 NP_000383 Q92887 MRP2_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA. 952 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AAAAACTAATTAAGAAGGAAT 0.388000 34 22 0 0 1 0 0 CAP2 10486 broad.mit.edu 37 6 17541254 17541254 + Silent SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:17541254C>A uc003ncb.3 + 8 1120 c.877C>A c.(877-879)Cgg>Agg p.R293R CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.R267R|CAP2_uc011djb.2_Silent_p.R229R|CAP2_uc011djc.2_Silent_p.R181R|CAP2_uc011djd.2_Intron NM_006366 NP_006357 P40123 CAP2_HUMAN Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA. 293 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) TCCCAGCCTGCGGGCTCAAGG 0.468000 195 130 6.59513e-52 6.69185e-52 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20493457 20493457 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:20493457C>T uc003gpr.1 + 8 1053 c.849C>T c.(847-849)atC>atT p.I283I SLIT2_uc003gps.1_Silent_p.I283I NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 283 LRRNT 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCAACAATATCGTAGACTGTC 0.433000 103 31 0 0 1 0 0 DNAJC1 64215 broad.mit.edu 37 10 22048520 22048520 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:22048520G>A uc001irc.3 - 10 1462 c.1175C>T c.(1174-1176)tCg>tTg p.S392L NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA. 392 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) CTGAACTGTCGATTTGAGTTC 0.562000 42 25 0 0 1 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377895 125377895 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:125377895G>A uc011lyy.2 + 0 879 c.879G>A c.(877-879)agG>agA p.R293R NM_012364 NP_036496 Q15612 OR1Q1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 ACAGCCTGAGGAATGGGGATG 0.473000 48 19 0 0 1 0 0 GAS2 2620 broad.mit.edu 37 11 22770718 22770718 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:22770718G>A uc009yie.3 + 5 832 c.526G>A c.(526-528)Gaa>Aaa p.E176K GAS2_uc001mqm.3_Missense_Mutation_p.E176K|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.E176K NM_001143830 NP_808221 O43903 GAS2_HUMAN Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA. 176 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 GATTGAACAAGAAGAAACACT 0.378000 16 17 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24498562 24498562 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:24498562G>A uc003jgr.2 - 8 1966 c.1460C>T c.(1459-1461)cCa>cTa p.P487L CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 487 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCAAACTGTGGGGCATTGTC 0.403000 HNSCC(23;0.051) 66 30 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10941911 10941911 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:10941911G>A uc002yip.1 - 13 1160 c.792C>T c.(790-792)atC>atT p.I264I TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.I246I|TPTE_uc002yir.1_Silent_p.I226I|TPTE_uc010gkv.1_Silent_p.I126I NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 264 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCCTTACCTTGATTGGATTTC 0.313000 98 37 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135160691 135160691 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:135160691C>T uc002ttw.4 + 10 1658 c.1513C>T c.(1513-1515)Ctt>Ttt p.L505F NM_002410 NP_002401 Q09328 MGT5A_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA. 505 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) CCTGCAGTTCCTTCTTCGAGA 0.428000 17 11 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92568110 92568110 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:92568110C>T uc001doo.3 + 2 695 c.428C>T c.(427-429)tCa>tTa p.S143L BTBD8_uc010otc.2_Non-coding_Transcript NM_183242 NP_899065 Q5XKL5 BTBD8_HUMAN Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA. 143 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) ATTGGGATATCACAAAAGCAA 0.308000 23 38 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116732026 116732026 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:116732026C>T uc001lcd.3 + 5 790 c.729C>T c.(727-729)ttC>ttT p.F243F TRUB1_uc010qsl.2_Silent_p.F145F|U6_uc021pzh.1_5'Flank NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA. 243 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) CACCATTTTTCACATTAGGTA 0.358000 53 18 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45987079 45987079 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:45987079G>A uc001ncc.4 - 8 1404 c.780C>T c.(778-780)atC>atT p.I260I PHF21A_uc001ncb.4_Silent_p.I261I|PHF21A_uc009ykx.3_Silent_p.I261I|PHF21A_uc001nce.2_Silent_p.I261I|PHF21A_uc001nca.1_5'UTR NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA. 260 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 CGGGCCTCTGGATAAGCTGAG 0.562000 OREG0020936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 20 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563743 176563743 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:176563743G>A uc001gkz.3 + 2 2167 c.1003G>A c.(1003-1005)Gat>Aat p.D335N PAPPA2_uc001gky.1_Missense_Mutation_p.D335N|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 335 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGGAAAGCGGGATGCTCGCTT 0.562000 43 15 0 0 1 0 0 HSF2 3298 broad.mit.edu 37 6 122744078 122744078 + Missense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:122744078A>T uc003pyu.2 + 8 1233 c.1046A>T c.(1045-1047)aAt>aTt p.N349I HSF2_uc003pyv.2_Missense_Mutation_p.N349I NM_004506 NP_004497 Q03933 HSF2_HUMAN Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA. 349 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TCCATTTTGAATGATAACATC 0.403000 12 32 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717364 222717364 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:222717364C>T uc001hnh.1 - 1 547 c.489G>A c.(487-489)agG>agA p.R163R NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 163 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GGGTACCGTCCCTTCCATGAG 0.567000 93 28 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77693930 77693930 + Missense_Mutation SNP C T T rs11915149 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:77693930C>T uc011bgk.2 + 25 4665 c.4022C>T c.(4021-4023)tCt>tTt p.S1341F ROBO2_uc021xat.1_Missense_Mutation_p.S1353F|ROBO2_uc003dpy.4_Missense_Mutation_p.S1337F|ROBO2_uc003dpz.3_Missense_Mutation_p.S1402F|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 1337 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ACAGCTTCTTCTAAGGGATCC 0.517000 28 41 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96021858 96021858 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:96021858C>T uc004ati.1 + 10 3028 c.3028C>T c.(3028-3030)Cct>Tct p.P1010S WNK2_uc011lud.1_Missense_Mutation_p.P1010S|WNK2_uc004atj.3_Missense_Mutation_p.P1010S|WNK2_uc004atk.3_Missense_Mutation_p.P647S|WNK2_uc010mrc.1_Missense_Mutation_p.P958S NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1010 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GCCCCACCTTCCTGAACAAGC 0.677000 9 6 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55905009 55905009 + Silent SNP G A A rs144645378 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:55905009G>A uc010riz.2 - 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F62F(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GATGTCTCAGGAAAAAGTACA 0.438000 127 34 0 0 1 0 0 ASIC4 55515 broad.mit.edu 37 2 220396518 220396518 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:220396518G>A uc002vlz.3 + 1 1176 c.1002G>A c.(1000-1002)gcG>gcA p.A334A ASIC4_uc010fwi.2_Silent_p.A334A|ASIC4_uc010fwj.2_Silent_p.A334A|ASIC4_uc002vly.2_Silent_p.A334A|ASIC4_uc002vma.3_Silent_p.A334A|ASIC4_uc002vmb.3_5'UTR NM_018674 NP_061144 Q96FT7 ACCN4_HUMAN Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA. 334 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity CCTTCAACGCGGACCCGCGGA 0.627000 57 31 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50865469 50865469 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:50865469C>T uc002prx.3 - 1 238 c.185G>A c.(184-186)gGg>gAg p.G62E NR1H2_uc002prv.4_Intron NM_004851 NP_004842 O96009 NAPSA_HUMAN Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA. 62 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) GGGCTTGTCCCCAGGGGATGG 0.587000 33 12 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149480200 149480200 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:149480200G>A uc010lpk.3 + 15 2082 c.2082G>A c.(2080-2082)caG>caA p.Q694Q SSPO_uc010lpl.1_Silent_p.Q29Q NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 694 VWFD 2. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCAGGTGCAGGGTCTGTGTG 0.597000 6 4 0 0 1 0 0 FARSA 2193 broad.mit.edu 37 19 13033582 13033582 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:13033582G>A uc002mvs.2 - 12 1555 c.1507C>T c.(1507-1509)Ccc>Tcc p.P503S FARSA_uc010xmv.1_Missense_Mutation_p.P472S NM_004461 NP_004452 Q9Y285 SYFA_HUMAN Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA. 503 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) TCCTGTGTGGGAGGGGGCCTC 0.622000 61 31 0 0 1 0 0 CHST9 83539 broad.mit.edu 37 18 24496717 24496717 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:24496717G>A uc002kwd.3 - 4 1067 c.838C>T c.(838-840)Cgt>Tgt p.R280C CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.R280C|CHST9_uc021uij.1_Missense_Mutation_p.R195C NM_001243848 NP_001230777 Q7L1S5 CHST9_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA. 280 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|extracellular region|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) ATGGGATCACGAACAAACACA 0.388000 61 35 0 0 1 0 0 LCE1B 353132 broad.mit.edu 37 1 152784959 152784959 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:152784959C>T uc001faq.3 + 0 513 c.37C>T c.(37-39)Cct>Tct p.P13S NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN Homo sapiens late cornified envelope 1B (LCE1B), mRNA. 13 Pro-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GTGCCAGCCccctcccaagtg 0.597000 97 101 0 0 1 0 0 RAD9B 144715 broad.mit.edu 37 12 110969391 110969391 + Missense_Mutation SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:110969391A>G uc001trf.4 + 11 1385 c.1247A>G c.(1246-1248)aAa>aGa p.K416R RAD9B_uc001trg.4_3'UTR|RAD9B_uc010sya.2_Missense_Mutation_p.K311E|RAD9B_uc001tre.4_3'UTR|RAD9B_uc001trd.4_3'UTR NM_152442 NP_689655 Q6WBX8 RAD9B_HUMAN Homo sapiens RAD9 homolog B (S. pombe) (RAD9B), mRNA. 413 DNA repair|DNA replication|cell cycle checkpoint nucleoplasm protein binding endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 7 TGCTGCAGGAAAGAATTTAAT 0.358000 17 10 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27622887 27622887 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:27622887C>T uc009vst.2 + 9 1479 c.944C>T c.(943-945)tCg>tTg p.S315L WDTC1_uc001bno.3_Missense_Mutation_p.S315L|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'UTR NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA. 315 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) TGCCACTCCTCGGGGGGTAAG 0.522000 76 72 0 0 1 0 0 TDG 6996 broad.mit.edu 37 12 104370810 104370810 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:104370810C>T uc001tkg.3 + 1 361 c.138C>T c.(136-138)gcC>gcT p.A46A TDG_uc010swh.1_Silent_p.A46A|TDG_uc009zuk.3_Silent_p.A42A|TDG_uc010swi.2_Intron|TDG_uc010swj.2_5'Flank NM_003211 NP_003202 Q13569 TDG_HUMAN Homo sapiens thymine-DNA glycosylase (TDG), mRNA. 46 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) AAGTTCCAGCCCCAGCTCCTG 0.443000 Base excision repair (BER), DNA glycosylases 39 13 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78683168 78683168 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:78683168G>A uc003dqe.2 - 23 3606 c.3398C>T c.(3397-3399)cCt>cTt p.P1133L ROBO1_uc003dqc.2_Missense_Mutation_p.P1033L|ROBO1_uc003dqd.2_Missense_Mutation_p.P1088L|ROBO1_uc003dqb.2_Missense_Mutation_p.P1094L|ROBO1_uc010hoh.2_Missense_Mutation_p.P325L|ROBO1_uc011bgl.1_Missense_Mutation_p.P705L NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. 1133 Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis cell surface|cytoplasm|integral to plasma membrane LRR domain binding|axon guidance receptor activity|identical protein binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GATAGTTGGAGGAACTGTGTC 0.398000 34 42 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153655871 153655871 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:153655871G>A uc001fcs.4 + 5 1704 c.1283G>A c.(1282-1284)gGg>gAg p.G428E NPR1_uc010pdz.2_Missense_Mutation_p.G174E|NPR1_uc010pea.2_5'Flank NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 428 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) AACTACAATGGGACTTCCCAA 0.592000 15 20 0 0 1 0 0 ORMDL2 29095 broad.mit.edu 37 12 56213193 56213193 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:56213193G>A uc001shw.1 + 2 334 c.242G>A c.(241-243)cGg>cAg p.R81Q DNAJC14_uc009zoa.2_5'Flank|DNAJC14_uc001shs.3_5'Flank|DNAJC14_uc001sht.3_5'Flank|DNAJC14_uc001shu.2_Intron|DNAJC14_uc001shv.4_5'Flank NM_014182 NP_054901 Q53FV1 ORML2_HUMAN Homo sapiens ORM1-like 2 (S. cerevisiae) (ORMDL2), mRNA. 81 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane kidney(1)|lung(3) 4 GGAAAGGCTCGGCTACTGACA 0.537000 96 59 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47593286 47593286 + Missense_Mutation SNP C T T rs112565536 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:47593286C>T uc003gxk.1 + 22 4333 c.4169C>T c.(4168-4170)tCc>tTc p.S1390F ATP10D_uc003gxl.1_Missense_Mutation_p.S638F NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 1390 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TCAGCAAGTTCCTGTGCTATT 0.453000 47 62 0 0 1 0 0 CT62 196993 broad.mit.edu 37 15 71403552 71403552 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:71403552G>A uc002ata.2 - 3 862 c.349C>T c.(349-351)Cct>Tct p.P117S NM_001102658 NP_001096128 P0C5K7 CT62_HUMAN Homo sapiens cancer/testis antigen 62 (CT62), mRNA. 117 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2) 6 AGCAGAAAAGGGAAAGAGAAG 0.463000 8 4 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119100597 119100597 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:119100597G>A uc001lde.1 - 1 1088 c.889C>T c.(889-891)Cca>Tca p.P297S NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN Homo sapiens PDZ domain containing 8 (PDZD8), mRNA. 297 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) GTCTGGTATGGAAAAAACGGC 0.353000 23 13 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72288613 72288613 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:72288613C>T uc010rrc.2 - 30 2887 c.2641G>A c.(2641-2643)Gcg>Acg p.A881T PDE2A_uc001oso.3_Missense_Mutation_p.A860T|PDE2A_uc010rra.2_Missense_Mutation_p.A874T|PDE2A_uc001osn.3_Missense_Mutation_p.A625T|PDE2A_uc010rrb.2_Missense_Mutation_p.A872T|PDE2A_uc010rrd.2_Missense_Mutation_p.A766T NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 881 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AGCTCTGCCGCTTTGGGGAAC 0.612000 30 42 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127642780 127642780 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:127642780G>A uc010hsr.3 + 0 879 c.876G>A c.(874-876)agG>agA p.R292R KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Silent_p.R292R NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA. 292 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 CAAGACATAGGAGCTATGGGG 0.448000 38 11 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215845251 215845251 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:215845251C>T uc002vew.3 - 30 4916 c.4696G>A c.(4696-4698)Gaa>Aaa p.E1566K ABCA12_uc002vev.3_Missense_Mutation_p.E1248K|ABCA12_uc010zjn.2_Missense_Mutation_p.E493K NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1566 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CCAAAGGCTTCCTTGAGGTAA 0.488000 40 24 0 0 1 0 0 TMEM8C 389827 broad.mit.edu 37 9 136385351 136385351 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:136385351G>A uc011mdk.2 - 1 297 c.195C>T c.(193-195)atC>atT p.I65I NM_001080483 NP_001073952 A6NI61 TMM8C_HUMAN Homo sapiens transmembrane protein 8C (TMEM8C), mRNA. 65 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 AATACTCCAGGATGTCGTGAC 0.582000 53 23 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28908228 28908228 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:28908228G>A uc001usb.3 - 17 2812 c.2527C>T c.(2527-2529)Caa>Taa p.Q843* FLT1_uc001usa.3_Nonsense_Mutation_p.Q61* NM_002019 NP_002010 P17948 VGFR1_HUMAN Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA. 843 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway Golgi apparatus|extracellular space|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCTGATGCTTGAACCACTTTT 0.438000 121 135 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457463 124457463 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:124457463G>A uc001lgn.3 - 2 826 c.794C>T c.(793-795)tCa>tTa p.S265L NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA. 265 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GGGGAGGAATGATTTGCGATC 0.373000 64 28 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96443702 96443702 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:96443702C>T uc001kjv.4 + 0 452 c.126C>T c.(124-126)atC>atT p.I42I CYP2C19_uc001kjw.4_Silent_p.I42I NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 42 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTGGAAATATCCTGCAGTTAG 0.448000 17 9 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23825146 23825146 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:23825146C>T uc003sws.4 + 17 2265 c.2198C>T c.(2197-2199)gCt>gTt p.A733V STK31_uc003swt.4_Missense_Mutation_p.A710V|STK31_uc011jze.2_Missense_Mutation_p.A733V|STK31_uc010kuq.3_Missense_Mutation_p.A710V|STK31_uc003swv.1_5'Flank NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 733 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTTCTTGATGCTGAGCCCATG 0.418000 85 42 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993203 140993203 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:140993203G>A uc004fbt.3 + 3 337 c.13G>A c.(13-15)Gat>Aat p.D5N MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 5 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACAAGGATATGCCTAC 0.522000 HNSCC(15;0.026) 10 23 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88904658 88904658 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:88904658C>T uc001xwq.3 + 11 2113 c.1692C>T c.(1690-1692)tcC>tcT p.S564S SPATA7_uc001xwr.3_Silent_p.S532S|SPATA7_uc001xws.3_Silent_p.S500S|SPATA7_uc001xwt.3_Silent_p.S458S|SPATA7_uc001xwu.3_Intron NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA. 564 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 CATCACCCTCCCAATCTGTTC 0.408000 38 22 0 0 1 0 0 AIFM2 84883 broad.mit.edu 37 10 71880961 71880961 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:71880961G>A uc010qjg.2 - 2 317 c.301C>T c.(301-303)Ccc>Tcc p.P101S AIFM2_uc021psi.1_Missense_Mutation_p.P101S|AIFM2_uc001jqp.2_Missense_Mutation_p.P101S NM_001198696 NP_001185625 Q9BRQ8 AIFM2_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA. 101 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 TGAGAGAAGGGCAGGGCCTGA 0.532000 19 8 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44468292 44468292 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:44468292G>A uc001cll.3 - 6 1161 c.969C>T c.(967-969)ccC>ccT p.P323P SLC6A9_uc009vxe.2_Silent_p.P179P|SLC6A9_uc010okm.1_Silent_p.P250P|SLC6A9_uc001clm.3_Silent_p.P269P|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.P254P|SLC6A9_uc010oko.2_Silent_p.P139P|SLC6A9_uc001cln.3_Silent_p.P250P|SLC6A9_uc010okp.1_Non-coding_Transcript NM_201649 NP_964012 P48067 SC6A9_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA. 323 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GCACCACGTAGGGGAACGTGG 0.607000 53 52 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18715676 18715676 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:18715676G>A uc001rdt.3 + 25 3623 c.3507G>A c.(3505-3507)ttG>ttA p.L1169L PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L1210L|PIK3C2G_uc010sic.2_Silent_p.L988L NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1169 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CTGTTAAATTGAATAACTTGA 0.383000 6 4 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330336 125330336 + Missense_Mutation SNP G C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:125330336G>C uc004bmp.1 - 0 421 c.421C>G c.(421-423)Cac>Gac p.H141D NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGGACACAGTGGTGGTGGCTC 0.552000 29 17 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70518819 70518819 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:70518819C>T uc001xly.3 - 4 2673 c.1919G>A c.(1918-1920)aGg>aAg p.R640K SLC8A3_uc001xlv.3_Missense_Mutation_p.R11K|SLC8A3_uc001xlu.3_5'UTR|SLC8A3_uc001xlw.3_Missense_Mutation_p.R637K|SLC8A3_uc001xlx.3_Missense_Mutation_p.R638K|SLC8A3_uc001xlz.3_Missense_Mutation_p.R634K|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_5'UTR NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 640 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGTCAGCTTCCTGTCTGTCAC 0.468000 53 43 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104048415 104048415 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:104048415C>T uc004bbb.3 + 3 681 c.282C>T c.(280-282)ttC>ttT p.F94F LPPR1_uc011lvi.2_Silent_p.F70F|LPPR1_uc004bbc.3_Silent_p.F94F|LPPR1_uc010mtc.3_Silent_p.F78F NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA. 94 integral to membrane catalytic activity p.F94F(1) CCATGTATTTCATAAAATCAA 0.373000 36 29 0 0 1 0 0 C18orf26 284254 broad.mit.edu 37 18 52262207 52262207 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:52262207C>T uc002lfq.1 + 1 219 c.173C>T c.(172-174)tCc>tTc p.S58F NM_173629 NP_775900 Q8N1N2 CR026_HUMAN Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA. 58 integral to membrane endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 11 Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178) GCTCACAGTTCCATATGCTGG 0.453000 66 44 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117248222 117248222 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:117248222C>T uc003pxm.3 + 16 1981 c.1918C>T c.(1918-1920)Ctg>Ttg p.L640L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 640 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGCTGGTCATCTGATGACACC 0.463000 30 80 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528249 20528249 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:20528249G>A uc001vwn.1 + 0 46 c.46G>A c.(46-48)Gga>Aga p.G16R NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA. 16 G -> V (in dbSNP:rs45584133). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TATTTTACTAGGATTTTTTGG 0.343000 55 24 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54822892 54822892 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:54822892G>A uc002qfe.3 - 4 624 c.504C>T c.(502-504)ttC>ttT p.F168F LILRA5_uc002qff.3_Silent_p.F156F|LILRA5_uc010yev.2_Silent_p.F168F|LILRA5_uc010yew.2_Silent_p.F156F|LILRA5_uc002qfg.1_Silent_p.F168F|LILRA5_uc002qfh.1_Silent_p.F156F NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 168 Ig-like C2-type 2. innate immune response extracellular region|integral to membrane receptor activity p.R167T(1)|p.R167I(1) breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGAACCTGTCGAATCTCAGCC 0.582000 41 19 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137499029 137499029 + Missense_Mutation SNP G C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:137499029G>C uc003lcf.1 - 14 1932 c.1877C>G c.(1876-1878)gCc>gGc p.A626G BRD8_uc011cyl.2_Missense_Mutation_p.A405G|BRD8_uc021yea.1_Missense_Mutation_p.A516G|BRD8_uc003lcg.3_Missense_Mutation_p.A699G|BRD8_uc003lci.3_Missense_Mutation_p.A629G|BRD8_uc011cym.2_Missense_Mutation_p.A610G|BRD8_uc011cyn.1_Missense_Mutation_p.A585G NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. 626 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTCACCTGGGGCATCCTTAGA 0.448000 50 17 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32011576 32011576 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:32011576G>A uc003nzl.2 - 34 11676 c.11474C>T c.(11473-11475)tCg>tTg p.S3825L TNXB_uc003nzg.1_Missense_Mutation_p.S256L|TNXB_uc003nzh.1_Missense_Mutation_p.S294L NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3872 Fibronectin type-III 30. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.S3892L(1)|p.S256L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCCTCGGACCGAGACCACGGT 0.627000 113 79 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50671731 50671731 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:50671731G>A uc003tpi.2 - 13 1554 c.1508C>T c.(1507-1509)tCc>tTc p.S503F GRB10_uc003tph.3_Missense_Mutation_p.S445F|GRB10_uc003tpj.2_Missense_Mutation_p.S457F|GRB10_uc003tpk.2_Missense_Mutation_p.S503F|GRB10_uc010kzb.2_Missense_Mutation_p.S445F|GRB10_uc003tpl.2_Missense_Mutation_p.S497F|GRB10_uc003tpm.2_Missense_Mutation_p.S445F NM_005311 NP_005302 Q13322 GRB10_HUMAN Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA. 503 SH2. insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane SH3/SH2 adaptor activity|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) GATCCTGTGGGATTCCTCCCT 0.527000 Russell-Silver syndrome 124 67 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14437592 14437592 + RNA SNP A C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:14437592A>C uc002yja.4 + 8 c.2262A>C Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. gccatggctcacacctgtaat 0.478000 14 3 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675353 100675353 + Missense_Mutation SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:100675353C>A uc003uxp.1 + 2 709 c.656C>A c.(655-657)aCa>aAa p.T219K MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 219 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTCCATTAACAAGTATGCCT 0.473000 185 77 4.05715e-38 4.10804e-38 1 1 0 PCDHB14 56122 broad.mit.edu 37 5 140604280 140604280 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140604280C>T uc003ljb.3 + 0 1203 c.1203C>T c.(1201-1203)ttC>ttT p.F401F NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 401 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.F401C(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAACTTTTTCACTCTAGTTT 0.458000 118 53 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220501404 220501404 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:220501404C>T uc002vmo.4 + 15 2633 c.2424C>T c.(2422-2424)ttC>ttT p.F808F SLC4A3_uc002vmp.4_Silent_p.F781F|SLC4A3_uc010fwm.3_Silent_p.F331F|SLC4A3_uc010fwn.1_Silent_p.F290F NM_201574 NP_963868 P48751 B3A3_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA. 781 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACCTAGTTCTGCCGAGCCC 0.642000 29 20 0 0 1 0 0 FUT10 84750 broad.mit.edu 37 8 33230221 33230221 + Silent SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:33230221A>G uc011lbi.2 - 4 1630 c.1464T>C c.(1462-1464)tcT>tcC p.S488S FUT10_uc003xjc.3_Silent_p.S445S|FUT10_uc003xjd.3_Silent_p.S410S|FUT10_uc003xje.3_Silent_p.S438S Q6P4F1 FUT10_HUMAN Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA. 438 L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TCTCTCGCAAAGAGCTCAAAG 0.488000 22 30 0 0 1 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129406 248129406 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:248129406C>T uc010pzd.2 + 0 773 c.773C>T c.(772-774)tCc>tTc p.S258F OR2L13_uc001ids.3_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA. 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S257Y(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ACTTGTTCCTCCCACCTGATT 0.507000 20 48 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121237401 121237401 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:121237401C>T uc003yox.3 + 14 2077 c.1812C>T c.(1810-1812)ttC>ttT p.F604F COL14A1_uc003yoy.3_Silent_p.F282F NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 604 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTGCTATTTTCTCCATCTATG 0.398000 56 11 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234863777 234863777 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:234863777C>T uc002vvh.3 + 11 1284 c.1244_splice c.e11-1 p.A415_splice TRPM8_uc010fyj.3_Splice_Site_p.A103_splice NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 415 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CTCTCACAGCCTTCAGCACCA 0.473000 41 15 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 30032595 30032595 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:30032595C>T uc003cel.3 + 13 1572 c.1202C>T c.(1201-1203)cCc>cTc p.P401L RBMS3_uc010hfq.3_Missense_Mutation_p.P398L|RBMS3_uc003cek.3_Missense_Mutation_p.P385L|RBMS3_uc010hfr.3_Missense_Mutation_p.P385L|RBMS3_uc003cem.3_Missense_Mutation_p.P383L NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA. 401 cytoplasm RNA binding|nucleotide binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) GATACCTCTCCCCAGACAGTG 0.493000 26 30 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442398 138442398 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:138442398G>A uc003ihe.4 - 3 3580 c.3193C>T c.(3193-3195)Ccc>Tcc p.P1065S PCDH18_uc003ihf.4_Missense_Mutation_p.P1057S|PCDH18_uc011cgz.2_Missense_Mutation_p.P276S|PCDH18_uc003ihg.4_Missense_Mutation_p.P844S|PCDH18_uc011cha.2_Missense_Mutation_p.P245S NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 1065 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TTGGTGGTGGGATTTTGAAAA 0.562000 43 15 0 0 1 0 0 SCO1 6341 broad.mit.edu 37 17 10590151 10590151 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:10590151G>A uc002gmr.4 - 4 725 c.664C>T c.(664-666)Ccc>Tcc p.P222S NM_004589 NP_004580 O75880 SCO1_HUMAN Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1), nuclear gene encoding mitochondrial protein, mRNA. 222 cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 10 ACCAGTTTGGGAGAAAATTCT 0.423000 66 18 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166848121 166848121 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:166848121C>T uc002udo.4 - 27 5891 c.5664G>A c.(5662-5664)caG>caA p.Q1888Q SCN1A_uc010fpk.3_Silent_p.Q1860Q|SCN1A_uc021vsb.1_Silent_p.Q1877Q NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1888 voltage-gated sodium channel complex voltage-gated sodium channel activity p.Q1888H(1)|p.Q1877H(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCTCTTCCATCTGTATTCGTA 0.438000 40 16 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2910139 2910139 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:2910139C>T uc022aqr.1 - 49 7895 c.7505G>A c.(7504-7506)gGa>gAa p.G2502E CSMD1_uc011kwj.2_Missense_Mutation_p.G1832E|CSMD1_uc010lrg.3_Missense_Mutation_p.G571E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2503 Sushi 15. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGAACCGTTTCCTGGGGATTC 0.418000 14 7 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56625222 56625222 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:56625222C>T uc010sqj.2 + 3 421 c.164C>T c.(163-165)gCa>gTa p.A55V SLC39A5_uc010sqi.2_Intron|SLC39A5_uc010sqk.2_Missense_Mutation_p.A55V NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA. 55 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACGCTGACTGCAGGGGGCTTG 0.662000 50 22 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15281203 15281203 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:15281203C>T uc002nan.3 - 26 5129 c.5053G>A c.(5053-5055)Gac>Aac p.D1685N NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 1685 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GAGGCCACGTCCTTGTGCAGT 0.652000 33 15 0 0 1 0 0 CAPN3 825 broad.mit.edu 37 15 42652221 42652221 + Missense_Mutation SNP T A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:42652221T>A uc001zpn.1 + 0 524 c.218T>A c.(217-219)gTt>gAt p.V73D CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.V73D|CAPN3_uc001zpp.1_Missense_Mutation_p.V73D NM_000070 NP_000061 P20807 CAN3_HUMAN Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA. 73 muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) GAAAAGAAAGTTCTTTATGTG 0.458000 156 89 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45746145 45746145 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:45746145C>T uc002zek.3 + 23 2735 c.2334C>T c.(2332-2334)ttC>ttT p.F778F PFKL_uc002zel.3_Silent_p.F731F|PFKL_uc002zem.3_Silent_p.F318F|PFKL_uc002zen.3_Silent_p.F318F P17858 K6PL_HUMAN Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA. 731 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) ACACTGATTTCGAGTGAGTTC 0.642000 15 10 0 0 1 0 0 OR6B2 389090 broad.mit.edu 37 2 240969565 240969565 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:240969565G>A uc010zoc.2 - 0 282 c.282C>T c.(280-282)ttC>ttT p.F94F OR6B2_uc002vyr.3_Silent_p.F94F NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) TGCACCCGACGAAAGAGATGC 0.572000 50 5 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590640 156590640 + Missense_Mutation SNP C G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:156590640C>G uc003lwn.3 - 1 736 c.636G>C c.(634-636)caG>caC p.Q212H NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 212 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGTCTCACTCTGATCCCCTT 0.512000 50 75 0 0 1 0 0 TAAR6 319100 broad.mit.edu 37 6 132892410 132892410 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:132892410G>A uc011eck.2 + 0 950 c.950G>A c.(949-951)tGg>tAg p.W317* NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA. 317 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TTTTACCCATGGTTTAGGAAA 0.338000 19 61 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198468 20198468 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:20198468C>T uc003sus.4 - 4 1825 c.1516G>A c.(1516-1518)Gat>Aat p.D506N MACC1_uc010kug.3_Missense_Mutation_p.D506N NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA. 506 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 GGGGTTGGATCAGGAGTAGTG 0.418000 60 37 0 0 1 0 0 GPX6 257202 broad.mit.edu 37 6 28483479 28483479 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:28483479G>A uc021yrx.1 - 0 92 c.42C>T c.(40-42)ttC>ttT p.F14F GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 14 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) AGCCAACCAGGAAAAACAGGA 0.547000 69 45 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43473622 43473622 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:43473622G>A uc002iix.3 - 13 1628 c.1179C>T c.(1177-1179)atC>atT p.I393I ARHGAP27_uc010dak.3_Silent_p.I366I NM_199282 NP_954976 Q6ZUM4 RHG27_HUMAN Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA. 734 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) GGTTTCCACTGATGCGGTACA 0.652000 26 27 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59224646 59224646 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:59224646C>T uc010rku.2 + 0 213 c.213C>T c.(211-213)atC>atT p.I71I NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA. 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I71I(2)|p.D70D(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TCCTGGACATCGTTTTTTCAT 0.463000 37 41 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31323938 31323938 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:31323938G>A uc002hhs.1 + 2 496 c.421G>A c.(421-423)Ggg>Agg p.G141R SPACA3_uc010cte.1_Non-coding_Transcript NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA. 141 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) CACCAACAACGGGATCTTCCA 0.592000 90 49 0 0 1 0 0 LOC646813 646813 broad.mit.edu 37 11 50368798 50368798 + RNA SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:50368798G>A uc001nhe.2 + 1 c.102G>A LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA. AACTGTAGGTGAAATACATGA 0.318000 32 10 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46265205 46265205 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:46265205G>A uc002xtk.3 + 11 2336 c.2075G>A c.(2074-2076)gGg>gAg p.G692E NCOA3_uc002xtl.3_Missense_Mutation_p.G692E|NCOA3_uc002xtn.3_Missense_Mutation_p.G692E|NCOA3_uc010ght.2_Missense_Mutation_p.G702E|NCOA3_uc002xtm.3_Missense_Mutation_p.G692E|NCOA3_uc010zyc.2_Missense_Mutation_p.G487E NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 692 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CTGCAGAATGGGAATTCACCA 0.483000 44 57 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38572549 38572549 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:38572549C>T uc002yvz.3 + 44 5972 c.5867C>T c.(5866-5868)tCc>tTc p.S1956F TTC3_uc002ywa.3_Missense_Mutation_p.S1956F|TTC3_uc002ywb.3_Missense_Mutation_p.S1956F|TTC3_uc010gnf.3_Missense_Mutation_p.S1721F|TTC3_uc002ywc.3_Missense_Mutation_p.S1646F NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 1956 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GGTGCAAGTTCCTGTGAAATA 0.428000 36 15 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328842 152328842 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:152328842C>T uc001ezw.4 - 2 1493 c.1420G>A c.(1420-1422)Ggt>Agt p.G474S AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 474 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATGTCTTACCTGAGCTAGAC 0.517000 165 158 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48391659 48391659 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:48391659C>T uc001rqu.3 - 5 605 c.424G>A c.(424-426)Gaa>Aaa p.E142K COL2A1_uc001rqv.3_Missense_Mutation_p.E73K NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 142 E -> D (in dbSNP:rs34392760). axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTCACTTTTTCACCTTTGTCA 0.542000 122 67 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41100974 41100974 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:41100974C>T uc002xkg.3 - 7 1566 c.1382G>A c.(1381-1383)cGa>cAa p.R461Q PTPRT_uc010ggj.3_Missense_Mutation_p.R461Q NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 461 Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CAGCAAGAGTCGCAGCCGGAT 0.602000 75 22 0 0 1 0 0 O3FAR1 338557 broad.mit.edu 37 10 95346994 95346994 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:95346994G>A uc010qnt.2 + 3 818 c.762G>A c.(760-762)agG>agA p.R254R O3FAR1_uc010qnu.2_Silent_p.R238R NM_181745 NP_859529 Q5NUL3 O3FA1_HUMAN Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA. 254 negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport integral to membrane|plasma membrane fatty acid binding breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2) 12 AGGCATCAAGGAAGAGGCTCA 0.562000 24 19 0 0 1 0 0 CHN2 1124 broad.mit.edu 37 7 29546896 29546896 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:29546896C>T uc003szz.3 + 10 1481 c.1044C>T c.(1042-1044)atC>atT p.I348I CHN2_uc011jzs.2_Silent_p.I423I|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.I313I|CHN2_uc011jzt.2_Silent_p.I361I|CHN2_uc010kvd.3_Silent_p.I204I|CHN2_uc011jzu.2_Silent_p.I333I|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Intron|CHN2_uc010kve.3_Intron|CHN2_uc003taa.3_Silent_p.I212I|CHN2_uc010kvf.3_Silent_p.I154I|CHN2_uc010kvg.3_Intron|CHN2_uc010kvj.3_Intron|CHN2_uc010kvk.3_Silent_p.I23I|CHN2_uc010kvl.3_Intron|CHN2_uc010kvm.3_Silent_p.I167I|CHN2_uc011jzv.2_Silent_p.I141I NM_004067 NP_004058 P52757 CHIO_HUMAN Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA. 348 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 TAAACATCATCACTGGAGCCC 0.378000 28 17 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102709923 102709923 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:102709923G>A uc001phj.1 - 6 1052 c.987C>T c.(985-987)atC>atT p.I329I DD413629_uc021qpi.1_5'Flank NM_002422 NP_002413 P08254 MMP3_HUMAN Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA. 329 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) AAAATGAAGAGATCAAATGCA 0.363000 63 26 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136683760 136683760 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:136683760C>T uc011edg.2 - 10 1693 c.1444G>A c.(1444-1446)Gcc>Acc p.A482T MAP7_uc011edf.2_Missense_Mutation_p.A437T|MAP7_uc010kgu.3_Missense_Mutation_p.A474T|MAP7_uc011edh.2_Missense_Mutation_p.A437T|MAP7_uc010kgv.3_Missense_Mutation_p.A474T|MAP7_uc010kgs.3_Missense_Mutation_p.A306T|MAP7_uc011edi.2_Missense_Mutation_p.A306T|MAP7_uc010kgq.2_Missense_Mutation_p.A358T|MAP7_uc003qgz.3_Missense_Mutation_p.A452T|MAP7_uc003qha.2_Missense_Mutation_p.A415T NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 452 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) gagaccatggctggggtgggg 0.637000 8 6 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404448 197404448 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:197404448G>A uc001gtz.3 + 8 3664 c.3455G>A c.(3454-3456)gGa>gAa p.G1152E CRB1_uc010poz.2_Missense_Mutation_p.G1128E|CRB1_uc009wza.3_Missense_Mutation_p.G1040E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.G633E|CRB1_uc001gub.1_Missense_Mutation_p.G801E NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1152 EGF-like 15. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTGCATGGAGGAAACTGTGAA 0.443000 37 11 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43570367 43570367 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:43570367G>A uc003bdq.3 - 7 1139 c.1077C>T c.(1075-1077)ttC>ttT p.F359F TTLL12_uc021wqu.1_5'Flank NM_015140 NP_055955 Q14166 TTL12_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA. 359 TTL. protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) TCTCGCAGGGGAACTGGTTCA 0.692000 29 12 0 0 1 0 0 PDCL2 132954 broad.mit.edu 37 4 56448404 56448404 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:56448404C>T uc003hbb.3 - 2 110 c.7_splice c.e2-1 p.D3_splice NM_152401 NP_689614 Q8N4E4 PDCL2_HUMAN Homo sapiens phosducin-like 2 (PDCL2), mRNA. 3 endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) TCATTGGGATCCTACACAAAA 0.303000 43 16 0 0 1 0 0 GAS7 8522 broad.mit.edu 37 17 9828803 9828803 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:9828803G>A uc002gmg.1 - 10 1289 c.1128C>T c.(1126-1128)tcC>tcT p.S376S GAS7_uc010vvc.1_Silent_p.S190S|GAS7_uc002gmh.1_Silent_p.S236S|GAS7_uc010vvd.1_Silent_p.S328S|GAS7_uc002gmi.2_Silent_p.S312S|GAS7_uc002gmj.1_Silent_p.S316S|GAS7_uc010coh.1_Silent_p.S316S NM_201433 NP_001124303 O60861 GAS7_HUMAN Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA. 376 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 CAGCCTGTGTGGACTTTCTCC 0.597000 T MLL AML* OREG0024170 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 179 51 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767174 57767174 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:57767174C>T uc002yan.3 + 0 1100 c.1100C>T c.(1099-1101)tCg>tTg p.S367L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 367 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CACAGCCTTTCGGAGCACAGC 0.766000 10 12 0 0 1 0 0 ZNF526 116115 broad.mit.edu 37 19 42728983 42728983 + Missense_Mutation SNP G T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:42728983G>T uc002osz.1 + 2 584 c.428G>T c.(427-429)tGg>tTg p.W143L ZNF526_uc021uvc.1_Missense_Mutation_p.W143L NM_133444 NP_597701 Q8TF50 ZN526_HUMAN Homo sapiens zinc finger protein 526 (ZNF526), mRNA. 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3) 22 Prostate(69;0.0704) TACCAGTGCTGGGACTGCCAG 0.622000 63 35 4.14481e-20 4.18513e-20 1 1 0 FAM161A 84140 broad.mit.edu 37 2 62067293 62067293 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:62067293G>A uc002sbm.4 - 2 948 c.846C>T c.(844-846)ttC>ttT p.F282F FAM161A_uc002sbn.4_Silent_p.F92F|FAM161A_uc010ypo.2_Silent_p.F282F|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Silent_p.F173F NM_001201543 NP_001188472 Q3B820 F161A_HUMAN Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA. 282 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GATTGGCTCGGAATTTCTTCT 0.388000 58 39 0 0 1 0 0 OR6B3 150681 broad.mit.edu 37 2 240985208 240985208 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:240985208G>A uc010zoe.2 - 0 282 c.282C>T c.(280-282)ttC>ttT p.F94F PRR21_uc010zod.2_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TGCACCCGACGAAAGAGATGC 0.567000 29 6 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101706809 101706809 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:101706809G>A uc010fiv.3 - 1 276 c.145C>T c.(145-147)Ctg>Ttg p.L49L TBC1D8_uc010yvw.2_Silent_p.L49L NM_001102426 NP_001095896 O95759 TBCD8_HUMAN Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA. 49 blood circulation|positive regulation of cell proliferation intracellular|membrane Rab GTPase activator activity|calcium ion binding breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 ACTGCATCCAGAGCGCCGACC 0.542000 32 11 0 0 1 0 0 RPH3AL 9501 broad.mit.edu 37 17 169321 169321 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:169321C>T uc002fre.2 - 4 584 c.241G>A c.(241-243)Gag>Aag p.E81K RPH3AL_uc010vpy.2_Missense_Mutation_p.E81K|RPH3AL_uc021tmx.1_Missense_Mutation_p.E81K|RPH3AL_uc002frf.2_Missense_Mutation_p.E81K|RPH3AL_uc010cjl.2_Missense_Mutation_p.E81K NM_006987 NP_008918 Q9UNE2 RPH3L_HUMAN Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA. 81 RabBD. exocytosis|intracellular protein transport transport vesicle membrane Rab GTPase binding|cytoskeletal protein binding|zinc ion binding NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) CTCATGGTCTCCAGCCGCTCC 0.632000 18 36 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32328309 32328309 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:32328309C>T uc004dda.1 - 41 6251 c.6007G>A c.(6007-6009)Gaa>Aaa p.E2003K DMD_uc004dcw.2_Missense_Mutation_p.E659K|DMD_uc004dcx.2_Missense_Mutation_p.E662K|DMD_uc004dcz.2_Missense_Mutation_p.E1880K|DMD_uc004dcy.1_Missense_Mutation_p.E1999K|DMD_uc004ddb.1_Missense_Mutation_p.E1995K|DMD_uc010ngo.1_Intron NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 2003 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGAGTGATTTCAGTCAAATAA 0.408000 1 12 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31570499 31570499 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:31570499C>T uc002rnv.1 - 28 3244 c.3165G>A c.(3163-3165)ctG>ctA p.L1055L NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 1055 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGGGGATTTTCAGAGCTCTAC 0.527000 38 35 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A G G rs9424867 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:145302714A>G uc021oul.1 + 7 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 384 p.L384L(6)|p.L113L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 64 4 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156581 22156581 + Missense_Mutation SNP G A A rs113734787 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:22156581G>A uc021urr.1 - 3 1404 c.1255C>T c.(1255-1257)Cat>Tat p.H419Y ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTCCAGTATGAATGACCTCA 0.373000 35 10 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34809819 34809819 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:34809819G>A uc010gfq.3 + 9 3130 c.2767G>A c.(2767-2769)Gag>Aag p.E923K EPB41L1_uc002xeu.3_Missense_Mutation_p.E723K|EPB41L1_uc002xev.3_Missense_Mutation_p.E824K|EPB41L1_uc002xew.3_Missense_Mutation_p.E716K|EPB41L1_uc002xex.3_Missense_Mutation_p.E645K|EPB41L1_uc002xey.3_Missense_Mutation_p.E575K|EPB41L1_uc002xez.3_Missense_Mutation_p.E723K|EPB41L1_uc002xfb.3_Missense_Mutation_p.E825K NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA. 825 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GACAAGGATCGAGAAGCGAAT 0.552000 103 32 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048784 42048784 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:42048784G>A uc001cgz.4 - 3 2898 c.1685C>T c.(1684-1686)tCc>tTc p.S562F HIVEP3_uc001cha.4_Missense_Mutation_p.S562F|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 562 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GTCATCGAAGGAGTAGCTACC 0.612000 39 50 0 0 1 0 0 PIAS1 8554 broad.mit.edu 37 15 68468991 68468991 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:68468991G>A uc002aqz.3 + 11 1574 c.1481_splice c.e11+1 p.G494_splice NM_016166 NP_057250 O75925 PIAS1_HUMAN Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA. 494 JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1) 24 AAATAATAAAGGGTAAGTGCT 0.363000 28 8 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233746933 233746934 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:233746933_233746934CC>TT uc002vts.2 - 12 2047_2048 c.1799_1800GG>AA c.(1798-1800)agg>aAA p.R600K NGEF_uc010zmm.1_Missense_Mutation_p.R323K|NGEF_uc010fyg.1_Missense_Mutation_p.R508K NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 600 PH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) ACTTGGTCCTCCTGTTGGGGGC 0.614000 24 12 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158670269 158670269 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:158670269G>A uc001fsu.1 - 0 174 c.174C>T c.(172-174)ccC>ccT p.P58P NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) AAGTATACATGGGAGTGTGGA 0.438000 70 24 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52361759 52361759 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:52361759C>T uc003joy.3 + 14 2038 c.1895C>T c.(1894-1896)tCc>tTc p.S632F ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.S556F|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript NM_002203 NP_002194 P17301 ITA2_HUMAN Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA. 632 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) AATGGGGATTCCATCACCGAT 0.448000 24 13 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70477663 70477663 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:70477663G>A uc001xlt.2 + 8 1139 c.857_splice c.e8+1 p.R286_splice SMOC1_uc001xls.2_Splice_Site_p.R286_splice NM_001034852 NP_001030024 Q9H4F8 SMOC1_HUMAN Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA. 286 Thyroglobulin type-1 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ACCTCCACACGGTAAGCCCCC 0.617000 23 14 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709307 176709307 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:176709307G>A uc001gkz.3 + 13 5290 c.4126G>A c.(4126-4128)Gag>Aag p.E1376K PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1376 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTCAGAGGACGAGGGGCAGAA 0.483000 28 15 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138676448 138676448 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:138676448C>T uc011mdq.2 + 25 3085 c.3011C>T c.(3010-3012)tCg>tTg p.S1004L KCNT1_uc011mdr.2_Missense_Mutation_p.S831L|KCNT1_uc010nbf.3_Missense_Mutation_p.S959L|KCNT1_uc004cgo.1_Missense_Mutation_p.S753L NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 1004 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) ACGCCGGGCTCGGGGTACCTC 0.682000 6 7 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158389761 158389761 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:158389761G>A uc010pii.2 - 0 896 c.896C>T c.(895-897)tCa>tTa p.S299L NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) ACAAAGAGCTGATTTGAACTC 0.363000 28 9 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16496008 16496008 + Silent SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:16496008A>G uc002ndx.3 - 20 2185 c.2179T>C c.(2179-2181)Tta>Cta p.L727L EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Silent_p.L617L|EPS15L1_uc002ndz.1_Silent_p.L727L|EPS15L1_uc010xpf.1_Silent_p.L630L|EPS15L1_uc002nea.1_Silent_p.L727L|EPS15L1_uc010eah.1_Silent_p.L729L NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA. 727 15 X 3 AA repeats of D-P-F. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding p.L727I(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 AAGGGATCTAAGGTTCCAAAG 0.542000 56 44 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99296257 99296257 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:99296257G>A uc004awj.3 - 8 1350 c.898C>T c.(898-900)Cta>Tta p.L300L CDC14B_uc004awk.3_Silent_p.L300L|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Silent_p.L263L NM_033331 NP_201588 O60729 CC14B_HUMAN Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA. 300 B. DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) CAGATATCTAGGAATTCTTTG 0.418000 13 15 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149240510 149240510 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:149240510C>T uc003lrg.4 - 21 2651 c.2531G>A c.(2530-2532)gGa>gAa p.G844E PDE6A_uc021yfs.1_Missense_Mutation_p.G763E NM_000440 NP_000431 P16499 PDE6A_HUMAN Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA. 844 GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.G844*(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GCTGGGGTTTCCCCCCGGCTG 0.572000 17 25 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990658 63990658 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:63990658C>T uc003peh.3 - 3 832 c.798G>A c.(796-798)atG>atA p.M266I LGSN_uc003pei.3_Intron NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 266 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) AAGAGATTTCCATCTGACCAG 0.438000 37 21 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158064610 158064610 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:158064610C>T uc001frn.4 + 14 2378 c.1974C>T c.(1972-1974)gcC>gcT p.A658A KIRREL_uc010pib.2_Silent_p.A558A|KIRREL_uc009wsq.3_Silent_p.A494A|KIRREL_uc001fro.4_Silent_p.A472A|hCG_1995134_uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA. 658 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GGGGCCCTGCCTCTGACTATG 0.652000 32 31 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42107506 42107506 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:42107506C>T uc001zok.4 + 11 1524 c.1238C>T c.(1237-1239)tCc>tTc p.S413F MAPKBP1_uc010bci.3_Missense_Mutation_p.S407F|MAPKBP1_uc010udb.2_Intron|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S407F|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA. 413 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCCCCCAGTTCCTTTATTACC 0.582000 36 16 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45725584 45725584 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:45725584G>A uc003tne.4 + 12 2115 c.2097G>A c.(2095-2097)tgG>tgA p.W699* NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 699 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CTTGGGCCTGGAGCTCCAAGC 0.652000 17 8 0 0 1 0 0 SH3GLB2 56904 broad.mit.edu 37 9 131774560 131774560 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:131774560C>T uc004bww.3 - 6 737 c.591G>A c.(589-591)caG>caA p.Q197Q SH3GLB2_uc022bon.1_5'Flank|SH3GLB2_uc004bwv.3_Silent_p.Q193Q NM_020145 NP_064530 Q9NR46 SHLB2_HUMAN Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA. 193 BAR. filopodium assembly|signal transduction cytoplasm|nucleus SH3 domain binding|cytoskeletal adaptor activity NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1) 12 GTCTAGTCTCCTGAAAGTCAG 0.652000 7 3 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525627 176525627 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:176525627C>T uc001gkz.3 + 1 1333 c.169C>T c.(169-171)Cga>Tga p.R57* PAPPA2_uc001gky.1_Nonsense_Mutation_p.R57*|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 57 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGCCAAGGTTCGAAGACCCAG 0.567000 45 58 0 0 1 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74641821 74641821 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:74641821G>A uc004ecg.3 - 8 1219 c.741C>T c.(739-741)gcC>gcT p.A247A ZDHHC15_uc004ech.3_Silent_p.A238A|ZDHHC15_uc011mqo.1_Non-coding_Transcript NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA. 247 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 GAGTGCAGAAGGCCTCTAAGG 0.408000 6 10 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37337858 37337858 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:37337858C>T uc001caz.2 - 3 798 c.663G>A c.(661-663)atG>atA p.M221I GRIK3_uc001cba.1_Missense_Mutation_p.M221I NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 221 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGCCTCGCTTCATCTCCTTGA 0.587000 34 42 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40405573 40405573 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:40405573G>A uc002rrx.3 - 1 1893 c.1869C>T c.(1867-1869)ttC>ttT p.F623F LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.F623F|SLC8A1_uc002rsb.2_Intron|SLC8A1_uc002rrz.3_Intron|SLC8A1_uc002rsa.3_Intron|SLC8A1_uc002rsd.4_Intron NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 623 Calx-beta 2. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CAATCTCAAGGAAGAAGGTCT 0.498000 118 63 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2084115 2084115 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:2084115C>T uc003zhc.3 + 16 2544 c.2445C>T c.(2443-2445)gtC>gtT p.V815V SMARCA2_uc003zhd.3_Silent_p.V815V|SMARCA2_uc010mha.3_Silent_p.V806V NM_003070 NP_003061 P51531 SMCA2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA. 815 Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GCTCCCTTGTCCCCCAGCTAC 0.373000 10 10 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58711035 58711035 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:58711035C>T uc001nnh.2 + 1 94 c.44C>T c.(43-45)tCt>tTt p.S15F GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR NM_080661 NP_542392 Q969I3 GLYL1_HUMAN Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA. 0 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) caagaaggatctgaagtggag 0.433000 10 13 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20986719 20986719 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:20986719C>T uc010vbe.2 - 50 8095 c.8095G>A c.(8095-8097)Gaa>Aaa p.E2699K DNAH3_uc010vbd.2_Missense_Mutation_p.E134K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2699 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.E2699*(3) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCTGTCAGTTCTCTTTGCATA 0.463000 49 35 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77407851 77407851 + Missense_Mutation SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:77407851T>C uc010ldt.1 + 7 1951 c.1907T>C c.(1906-1908)gTc>gCc p.V636A NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA. 636 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTTAGTGTGTCCAATGGGTT 0.333000 44 20 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43795855 43795856 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:43795855_43795856GG>AA uc002zbb.2 - 11 1517_1518 c.1316_1317CC>TT c.(1315-1317)tcc>tTT p.S439F TMPRSS3_uc002zay.2_Missense_Mutation_p.S196F|TMPRSS3_uc002zaz.2_Missense_Mutation_p.S312F|TMPRSS3_uc002zba.2_Missense_Mutation_p.S312F|TMPRSS3_uc002zbc.2_Missense_Mutation_p.S438F NM_024022 NP_076927 P57727 TMPS3_HUMAN Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA. 439 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 AGTCCAGGAAGGAGGTGACACG 0.599000 60 41 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178985967 178985968 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:178985967_178985968CC>TT uc002ulv.3 + 4 826_827 c.734_735CC>TT c.(733-735)tcc>tTT p.S245F NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN Homo sapiens RNA binding motif protein 45 (RBM45), mRNA. 247 cell differentiation|nervous system development cytoplasm|nucleus RNA binding|nucleotide binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) GAAGCAATCTCCAAACGCTTGT 0.356000 25 13 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346753 48346753 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:48346753C>T uc010rhv.2 + 0 261 c.261C>T c.(259-261)ttC>ttT p.F87F NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGTATTTTTTCCTGGCCAACC 0.453000 57 7 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202110 39202110 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:39202110G>A uc003jls.3 - 0 1020 c.953C>T c.(952-954)tCt>tTt p.S318F FYB_uc003jlt.3_Missense_Mutation_p.S318F|FYB_uc003jlu.3_Missense_Mutation_p.S318F|FYB_uc011cpl.2_Missense_Mutation_p.S328F NM_199335 NP_955367 O15117 FYB_HUMAN Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA. 318 NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGTCAGCTTAGAAGGGGCCTT 0.517000 78 18 0 0 1 0 0 OSBPL2 9885 broad.mit.edu 37 20 60847270 60847270 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:60847270C>T uc002yck.1 + 4 550 c.348C>T c.(346-348)ctC>ctT p.L116L OSBPL2_uc002ycl.1_Silent_p.L104L|OSBPL2_uc011aah.1_Silent_p.L24L NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA. 116 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) ACGTGTACCTCATCCACAGGG 0.582000 60 13 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75983118 75983118 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:75983118C>T uc002baw.3 - 2 381 c.288G>A c.(286-288)ctG>ctA p.L96L NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA. 96 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|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 CTGGAGTCTGCAGCCTCAGCT 0.547000 104 4 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240492663 240492663 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:240492663C>T uc010pye.2 + 10 4569 c.4344C>T c.(4342-4344)atC>atT p.I1448I FMN2_uc010pyd.2_Silent_p.I1444I|FMN2_uc010pyf.1_Silent_p.I90I|FMN2_uc010pyg.2_Silent_p.I40I NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1444 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGTCACTAATCCCCAACTTTT 0.358000 89 28 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987166 61987166 + Missense_Mutation SNP C T T rs149151535 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:61987166C>T uc002jda.1 - 4 636 c.574G>A c.(574-576)Ggg>Agg p.G192R CSHL1_uc002jcz.1_Missense_Mutation_p.G169R|CSHL1_uc002jdb.1_Missense_Mutation_p.G98R|CSHL1_uc002jdc.1_Missense_Mutation_p.G109R|CSHL1_uc002jdd.1_Missense_Mutation_p.G130R NM_022579 NP_001309 Q14406 CSHL_HUMAN Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA. 192 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 TGGAGCAGCCCGTAGTTCTTG 0.587000 160 69 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801776 9801776 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:9801776C>T uc021uop.1 - 5 1049 c.403G>A c.(403-405)Gaa>Aaa p.E135K ZNF812_uc010xkx.2_Missense_Mutation_p.E31K NM_001199814 NP_001186743 P0C7V5 ZN812_HUMAN Homo sapiens zinc finger protein 812 (ZNF812), mRNA. 135 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTGGAAAGTTCCTGTCCAATA 0.398000 34 18 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56676346 56676346 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:56676346G>A uc010dcz.2 - 13 2496 c.2378C>T c.(2377-2379)gCc>gTc p.A793V TEX14_uc002iwr.2_Missense_Mutation_p.A787V|TEX14_uc002iws.2_Missense_Mutation_p.A787V|TEX14_uc010dda.2_Missense_Mutation_p.A567V NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 793 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGGGCCCACGGCCAGAGGTAA 0.468000 41 61 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43766276 43766276 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:43766276G>A uc002owd.4 - 2 544 c.445C>T c.(445-447)Ccc>Tcc p.P149S PSG9_uc002owe.4_Missense_Mutation_p.P149S|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.P149S NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 149 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GAGATGTAGGGCTTGGGAGTC 0.512000 127 76 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196397261 196397261 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:196397261C>T uc001gtd.1 - 9 1018 c.958G>A c.(958-960)Gaa>Aaa p.E320K KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E320K|KCNT2_uc001gtf.1_Missense_Mutation_p.E320K|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.E320K|KCNT2_uc009wyv.1_Missense_Mutation_p.E295K NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 320 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GCATAGAATTCATTTAAAAAA 0.373000 40 16 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769157 31769157 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:31769157C>T uc002nsy.4 - 1 1607 c.1542G>A c.(1540-1542)gaG>gaA p.E514E NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 514 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.P514P(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) CCTTGGGACTCTCTTCTAAGT 0.483000 99 55 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123348433 123348433 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:123348433C>T uc003ego.3 - 29 5284 c.5002G>A c.(5002-5004)Gaa>Aaa p.E1668K MYLK-AS1_uc003egk.3_Non-coding_Transcript|MYLK_uc010hrr.3_Missense_Mutation_p.E103K|MYLK_uc011bjv.2_Missense_Mutation_p.E468K|MYLK_uc011bjw.2_Missense_Mutation_p.E1668K|MYLK_uc003egp.3_Missense_Mutation_p.E1599K|MYLK_uc003egq.3_Intron|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.E1492K NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1668 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCCAAGGTTTCGTTATCGTTG 0.557000 51 54 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101716582 101716582 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:101716582G>A uc001kqj.2 - 3 741 c.649C>T c.(649-651)Caa>Taa p.Q217* DNMBP-AS1_uc001kqk.1_Non-coding_Transcript NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN Homo sapiens dynamin binding protein (DNMBP), mRNA. 217 intracellular signal transduction|regulation of Rho protein signal transduction Golgi stack|cell junction|cytoskeleton|synapse Rho guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CAGTCATCTTGATTTCCAGAA 0.512000 61 41 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176042 57176042 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:57176042G>A uc010ygn.2 - 1 752 c.525C>T c.(523-525)ttC>ttT p.F175F NM_001005850 NP_001005850 Homo sapiens zinc finger protein 835 (ZNF835), mRNA. p.F197L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 AGCCCTGGCTGAAGGCCTTGC 0.706000 10 6 0 0 1 0 0 GZMK 3003 broad.mit.edu 37 5 54329643 54329643 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:54329643C>T uc003jpl.1 + 4 728 c.684C>T c.(682-684)gtC>gtT p.V228V NM_002104 NP_002095 P49863 GRAK_HUMAN Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA. 228 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) ACGCTATAGTCTCTGGAGGTC 0.483000 43 22 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73954224 73954224 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:73954224C>T uc003uaq.3 + 13 1937 c.1544C>T c.(1543-1545)tCt>tTt p.S515F GTF2IRD1_uc010lbq.3_Missense_Mutation_p.S547F|GTF2IRD1_uc003uap.3_Missense_Mutation_p.S515F|GTF2IRD1_uc003uar.1_Missense_Mutation_p.S515F NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA. 515 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TCGCCAACCTCTGAGGAAATG 0.557000 41 20 0 0 1 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117959335 117959335 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:117959335G>A uc004equ.3 + 3 601 c.128G>A c.(127-129)aGa>aAa p.R43K ZCCHC12_uc022cdh.1_Missense_Mutation_p.R43K NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA. 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 ATGGCAGACAgaaacatgaag 0.567000 8 22 0 0 1 0 0 KIAA0284 283638 broad.mit.edu 37 14 105352963 105352963 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:105352963C>T uc001yps.3 + 10 2483 c.2177C>T c.(2176-2178)tCt>tTt p.S726F KIAA0284_uc010axb.3_Missense_Mutation_p.S726F|KIAA0284_uc001ypt.3_5'Flank NM_015005 NP_055820 Q9Y4F5 K0284_HUMAN Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA. 796 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1) 14 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) ACTCCCGCCTCTTTCTTCATT 0.677000 11 6 0 0 1 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516118 138516118 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:138516118G>A uc010nbd.1 - 4 910 c.656C>T c.(655-657)cCg>cTg p.P219L NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA. 219 P -> S (in dbSNP:rs17040344). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups p.P219P(1) endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) CTGTCCAAACGGGATGCAAGC 0.488000 69 37 0 0 1 0 0 ZNF701 55762 broad.mit.edu 37 19 53086690 53086690 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:53086690C>T uc010ydn.2 + 4 1639 c.1576C>T c.(1576-1578)Cat>Tat p.H526Y ZNF701_uc002pzs.2_Missense_Mutation_p.H460Y|ZNF701_uc021uyw.1_Missense_Mutation_p.H526Y NM_018260 NP_060730 Q9NV72 ZN701_HUMAN Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA. 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) TCATAGACTTCATACTGGAAA 0.358000 29 21 0 0 1 0 0 C17orf66 256957 broad.mit.edu 37 17 34190548 34190548 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:34190548C>T uc002hke.1 - 6 732 c.583G>A c.(583-585)Gag>Aag p.E195K C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.E155K|C17orf66_uc010wcm.1_Missense_Mutation_p.E161K NM_152781 NP_689994 A2RTY3 CQ066_HUMAN Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA. 195 binding p.P194T(1)|p.E195E(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TTCACTTTCTCTGGACCAGTT 0.478000 49 47 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50494789 50494789 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:50494789C>T uc001zxw.3 + 2 1026 c.794C>T c.(793-795)cCc>cTc p.P265L SLC27A2_uc010bes.3_Intron|SLC27A2_uc001zxx.3_Missense_Mutation_p.P30L NM_003645 NP_003636 O14975 S27A2_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA. 265 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) ATCACTCTGCCCTTTTACCAC 0.443000 89 29 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100225217 100225217 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:100225217C>T uc003uvv.1 - 14 1819 c.1750G>A c.(1750-1752)Gag>Aag p.E584K TFR2_uc010lhc.1_Missense_Mutation_p.E125K|TFR2_uc003uvu.1_Missense_Mutation_p.E413K NM_003227 NP_003218 Q9UP52 TFR2_HUMAN Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA. 584 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AAGGAGAACTCGACGGCAGGG 0.642000 28 17 0 0 1 0 0 PRR14L 253143 broad.mit.edu 37 22 32072956 32072956 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:32072956G>A uc003alo.2 - 5 5681 c.5625C>T c.(5623-5625)ttC>ttT p.F1875F NM_173566 NP_775837 Q5THK1 PR14L_HUMAN Homo sapiens proline rich 14-like (PRR14L), mRNA. 2076 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 CGAATACCAGGAAGTGCCCGG 0.592000 15 10 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47627450 47627450 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:47627450C>T uc002eev.4 + 10 1160 c.1108C>T c.(1108-1110)Ctt>Ttt p.L370F PHKB_uc002eeu.4_Missense_Mutation_p.L363F NM_000293 NP_000284 Q93100 KPBB_HUMAN Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. 370 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CATATTTTTCCTTTATATGAT 0.254000 22 11 0 0 1 0 0 KPNB1 3837 broad.mit.edu 37 17 45735996 45735996 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:45735996G>A uc002ilt.1 + 4 942 c.606G>A c.(604-606)ttG>ttA p.L202L KPNB1_uc010wkw.1_Silent_p.L57L|KPNB1_uc010wkx.1_Silent_p.L57L NM_002265 NP_002256 Q14974 IMB1_HUMAN Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA. 202 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 TGAACTCATTGGAGTTCACCA 0.378000 41 40 0 0 1 0 0 HTR3E 285242 broad.mit.edu 37 3 183818295 183818295 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:183818295C>T uc010hxr.3 + 0 329 c.135C>T c.(133-135)atC>atT p.I45I HTR3E_uc010hxq.3_Silent_p.I30I|HTR3E_uc003fml.4_Silent_p.I30I|HTR3E_uc003fmm.3_Silent_p.I45I|HTR3E_uc003fmn.3_Silent_p.I45I NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA. 30 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity p.I45I(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CTTTCACCATCAATTGCTCAG 0.552000 178 160 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62758587 62758587 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:62758587G>A uc010ihh.3 + 6 1663 c.1490G>A c.(1489-1491)aGc>aAc p.S497N LPHN3_uc003hcq.4_Missense_Mutation_p.S497N|LPHN3_uc003hcs.1_Missense_Mutation_p.S326N NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 497 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CTCGAAGAGAGCTGTGAGGCT 0.512000 14 17 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597025 36597025 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:36597025C>T uc021qgb.1 + 0 2171 c.2171C>T c.(2170-2172)tCt>tTt p.S724F RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.S724F NM_000448 NP_000439 P15918 RAG1_HUMAN Homo sapiens recombination activating gene 1 (RAG1), mRNA. 724 T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CTCGAGGCTTCTGGCTCAGTC 0.502000 Familial Hemophagocytic Lymphohistiocytosis 59 46 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117103927 117103927 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:117103927G>A uc004biq.3 - 19 4088 c.3953C>T c.(3952-3954)tCg>tTg p.S1318L AKNA_uc004bin.3_Missense_Mutation_p.S565L|AKNA_uc004bio.3_Missense_Mutation_p.S778L|AKNA_uc004bip.3_Missense_Mutation_p.S1237L|AKNA_uc004bir.3_Missense_Mutation_p.S1318L|AKNA_uc004bis.3_Missense_Mutation_p.S1318L|AKNA_uc010mve.2_Missense_Mutation_p.S1199L NM_030767 NP_110394 Q7Z591 AKNA_HUMAN Homo sapiens AT-hook transcription factor (AKNA), mRNA. 1318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 TGGGCGTGGCGACGACCCCGC 0.622000 54 25 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43433857 43433857 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:43433857G>A uc002ovl.4 - 3 545 c.443C>T c.(442-444)cCc>cTc p.P148L PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.P27L NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 149 Ig-like C2-type 1. female pregnancy extracellular region Prostate(69;0.00682) GGAGATGGAGGGTTTGGGAGT 0.512000 115 53 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152374874 152374874 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:152374874C>T uc021vrb.1 - 126 17684 c.17655G>A c.(17653-17655)ctG>ctA p.L5885L NEB_uc002txr.3_Silent_p.L2351L|NEB_uc002txu.3_Silent_p.L7586L|NEB_uc021vrc.1_Silent_p.L7586L|NEB_uc010fnx.3_Silent_p.L5873L|NEB_uc021vrd.1_Silent_p.L5885L|NEB_uc002txt.4_Silent_p.L390L NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 5885 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GAAGCTGCTCCAGATTATCGG 0.453000 107 65 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24921455 24921455 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:24921455G>A uc001ywo.3 + 0 915 c.441G>A c.(439-441)gaG>gaA p.E147E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 147 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTCTCCTGGAGGAGACCGAGG 0.607000 33 10 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10276145 10276145 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:10276145G>A uc003bve.1 + 10 1351 c.1275G>A c.(1273-1275)aaG>aaA p.K425K NM_001570 NP_001561 O43187 IRAK2_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA. 425 Protein kinase. I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 TCCCACAGAAGGACTTACTCC 0.572000 57 15 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315630 30315630 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:30315630C>T uc009xle.2 - 2 3584 c.3447G>A c.(3445-3447)agG>agA p.R1149R KIAA1462_uc001iux.3_Silent_p.R1149R|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.R1011R NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 1149 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 AGCCGCACTTCCTCCTGCCAT 0.607000 51 31 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158670041 158670041 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:158670041G>A uc001fsu.1 - 0 402 c.402C>T c.(400-402)atC>atT p.I134I NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA. 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I134V(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TGGGGGTCATGATAGAGGGAT 0.473000 81 16 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107040657 107040657 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:107040657C>T uc010ywi.1 - 19 3823 c.3766G>A c.(3766-3768)Gaa>Aaa p.E1256K NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 1256 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 AAAGCATCTTCCCTTAAATCA 0.448000 133 70 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189916147 189916147 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:189916147G>A uc002uqk.3 - 41 3105 c.2830C>T c.(2830-2832)Cgt>Tgt p.R944C COL5A2_uc010frx.3_Missense_Mutation_p.R520C NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 944 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGGTCCCCACGAAGACCTGGA 0.617000 16 15 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738800 176738800 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:176738800C>T uc001gkz.3 + 15 5545 c.4381C>T c.(4381-4383)Ccc>Tcc p.P1461S PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1461 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GAGCTGCCTTCCCGTGGACTG 0.473000 56 57 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41012789 41012789 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:41012789C>T uc003jmj.4 - 29 3521 c.3031G>A c.(3031-3033)Gaa>Aaa p.E1011K HEATR7B2_uc003jmi.4_Missense_Mutation_p.E566K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1011 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TCCAGCATTTCCTCTAGGAAC 0.458000 44 46 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189585657 189585657 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:189585657C>T uc003fry.2 + 6 1007 c.918C>T c.(916-918)ttC>ttT p.F306F TP63_uc003frx.2_Silent_p.F306F|TP63_uc003frz.2_Silent_p.F306F|TP63_uc010hzc.1_Silent_p.F306F|TP63_uc003fsa.2_Silent_p.F212F|TP63_uc003fsb.2_Silent_p.F212F|TP63_uc003fsc.2_Silent_p.F212F|TP63_uc003fsd.2_Silent_p.F212F|TP63_uc021xir.1_Silent_p.F212F|TP63_uc010hzd.1_Silent_p.F127F|TP63_uc003fse.1_Silent_p.F187F NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 306 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGTACAATTTCATGTGTAACA 0.398000 HNSCC(45;0.13) 49 19 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41465764 41465764 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:41465764G>A uc002yyq.1 - 20 4186 c.3734C>T c.(3733-3735)tCc>tTc p.S1245F DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1245 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.S1245F(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AATTCTGTAGGAAAACGAGTC 0.483000 29 13 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167793962 167793962 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:167793962G>A uc001ger.3 - 26 4180 c.3882C>T c.(3880-3882)atC>atT p.I1294I ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.I1141I|ADCY10_uc009wvk.3_Silent_p.I1202I NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 1294 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CGTATGCCACGATTTCAATGC 0.522000 146 167 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178281742 178281742 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:178281742C>T uc003iut.2 + 8 1663 c.1546C>T c.(1546-1548)Ctc>Ttc p.L516F NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA. 516 base-excision repair|nucleotide-excision repair nucleus DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CCTCTGCATTCTCCGAGTTGT 0.458000 Base excision repair (BER), DNA glycosylases 86 31 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39801640 39801640 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:39801640C>T uc021olw.1 + 0 4700 c.4700C>T c.(4699-4701)tCc>tTc p.S1567F MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 3132 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACAGGCCCATCCCAAATTTCC 0.478000 47 22 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104125007 104125007 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:104125007G>A uc010mtd.3 - 3 1069 c.960C>T c.(958-960)ttC>ttT p.F320F BAAT_uc004bbd.4_Silent_p.F320F NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 320 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CAATGAAGAGGAATTGCCCCT 0.473000 51 29 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125570014 125570014 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:125570014G>A uc003yrl.2 - 11 1684 c.1150C>T c.(1150-1152)Cct>Tct p.P384S NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'Flank|MTSS1_uc011lin.1_Missense_Mutation_p.P154S|MTSS1_uc011lio.1_Missense_Mutation_p.P270S|MTSS1_uc003yri.2_Intron|MTSS1_uc003yrj.2_Intron|MTSS1_uc003yrk.2_Missense_Mutation_p.P380S NM_014751 NP_055566 O43312 MTSS1_HUMAN Homo sapiens metastasis suppressor 1 (MTSS1), mRNA. 380 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GTGACCCGAGGGAGCAGGCGG 0.562000 14 3 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70087518 70087518 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:70087518G>A uc001svg.3 - 3 644 c.417C>T c.(415-417)atC>atT p.I139I BEST3_uc001svd.2_Silent_p.I139I|BEST3_uc010stm.2_Silent_p.I33I|BEST3_uc001svi.1_Non-coding_Transcript NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 139 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CCGAGCGAAAGATGAGCAGGG 0.517000 51 16 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40711325 40711325 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:40711325C>T uc011aor.2 + 19 4928 c.4717C>T c.(4717-4719)Ccc>Tcc p.P1573S TNRC6B_uc003aym.3_Missense_Mutation_p.P769S|TNRC6B_uc003ayn.4_Missense_Mutation_p.P1463S|TNRC6B_uc003ayo.3_Missense_Mutation_p.P1320S NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 1573 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 GTCCCCAGATCCCATAGGACA 0.458000 39 19 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119428038 119428038 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:119428038G>A uc001ehl.1 - 7 1123 c.808C>T c.(808-810)Cat>Tat p.H270Y TBX15_uc009whj.1_Missense_Mutation_p.H94Y NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 376 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GGGGCCAGATGAAAAGTTGGA 0.527000 24 12 0 0 1 0 0 GFOD1 54438 broad.mit.edu 37 6 13365623 13365623 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:13365623G>A uc003nat.2 - 1 1272 c.525C>T c.(523-525)tcC>tcT p.S175S GFOD1_uc021ylt.1_Silent_p.S72S|GFOD1_uc003nas.2_Silent_p.S72S NM_018988 NP_001229559 Q9NXC2 GFOD1_HUMAN Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA. 175 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) AGGTGCCCACGGAGTGCAGGC 0.632000 17 14 0 0 1 0 0 DUS2L 54920 broad.mit.edu 37 16 68112356 68112356 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:68112356C>T uc002evi.3 + 15 1328 c.1179C>T c.(1177-1179)cgC>cgT p.R393R DUS2L_uc002evj.3_Silent_p.R393R|DUS2L_uc010vkk.2_Silent_p.R358R NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA. 393 DRBM. tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity p.R393L(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) AGGTTCAACGCCCTCTAGATC 0.463000 73 36 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77530252 77530252 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:77530252C>T uc011bgk.2 + 3 1192 c.549C>T c.(547-549)atC>atT p.I183I ROBO2_uc021xat.1_Silent_p.I199I|ROBO2_uc003dpy.4_Silent_p.I183I|ROBO2_uc003dpz.3_Silent_p.I183I|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 183 Ig-like C2-type 2. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTTAACAGATCCGTGGTGGAA 0.363000 41 60 0 0 1 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200827081 200827081 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:200827081C>T uc001gvl.3 + 17 4634 c.4364C>T c.(4363-4365)cCc>cTc p.P1455L CAMSAP2_uc001gvk.3_Missense_Mutation_p.P1444L|CAMSAP2_uc001gvm.3_Missense_Mutation_p.P1428L NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA. 1455 CKK. cytoplasm|microtubule protein binding AGCCACATACCCGCTAAAACT 0.363000 82 83 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31799781 31799781 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:31799781C>T uc003jhl.3 + 1 814 c.426C>T c.(424-426)atC>atT p.I142I PDZD2_uc003jhm.3_Silent_p.I142I NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 142 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGGATGAGATCCTCTCACTGA 0.602000 192 20 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813316 24813316 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:24813316G>A uc001iru.4 + 12 2924 c.2521G>A c.(2521-2523)Gaa>Aaa p.E841K KIAA1217_uc001irs.3_Missense_Mutation_p.E761K|KIAA1217_uc001irt.4_Missense_Mutation_p.E806K|KIAA1217_uc010qcy.2_Missense_Mutation_p.E806K|KIAA1217_uc010qcz.2_Missense_Mutation_p.E806K|KIAA1217_uc001irv.1_Missense_Mutation_p.E656K|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.E524K|KIAA1217_uc001irz.3_Missense_Mutation_p.E524K|KIAA1217_uc001irx.3_Missense_Mutation_p.E524K|KIAA1217_uc001iry.3_Missense_Mutation_p.E524K NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 841 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CATGGCTATGGAAAAGGCCAC 0.597000 40 21 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38482762 38482762 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:38482762C>T uc010ive.1 - 18 2931 c.2599G>A c.(2599-2601)Gaa>Aaa p.E867K LIFR_uc003jli.2_Missense_Mutation_p.E867K NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 867 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TAGAAGGTTTCTTTAATCCtt 0.219000 T PLAG1 salivary adenoma 110 9 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579090 55579090 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:55579090C>T uc001nhw.1 + 0 148 c.148C>T c.(148-150)Cag>Tag p.Q50* NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGCACTGATTCAGGTCAGCTC 0.483000 151 155 0 0 1 0 0 ADH4 127 broad.mit.edu 37 4 100052872 100052872 + Missense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:100052872A>T uc003hun.3 - 5 702 c.626T>A c.(625-627)gTg>gAg p.V209E LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.V228E NM_000670 NP_000661 P08319 ADH4_HUMAN Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA. 209 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) AGAAAGACCCACACCTCCTAG 0.458000 67 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090078 9090078 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:9090078C>T uc002mkp.3 - 0 1941 c.1737G>A c.(1735-1737)ggG>ggA p.G579G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 579 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G579G(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAAGCCAAATCCCTTTTGTGG 0.532000 17 10 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30747894 30747894 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:30747894C>T uc002dze.1 + 32 7342 c.6957C>T c.(6955-6957)ttC>ttT p.F2319F SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.F2114F NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 2319 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCATGAAATTCCTGGAGGCCT 0.542000 22 12 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171710458 171710458 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:171710458G>A uc002ugi.3 + 13 1761 c.1339G>A c.(1339-1341)Gac>Aac p.D447N GAD1_uc010fqc.3_Missense_Mutation_p.D66N NM_000817 NP_000808 Q99259 DCE1_HUMAN Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA. 447 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGTCTCCTACGACACCGGGGA 0.478000 77 42 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28611067 28611067 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:28611067C>T uc002kwj.4 - 2 381 c.226G>A c.(226-228)Gat>Aat p.D76N DSC3_uc002kwi.4_Missense_Mutation_p.D76N NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 76 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) ACTGACCCATCATTTAGAACT 0.418000 25 13 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15316703 15316703 + RNA SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:15316703C>T uc002ktd.1 - 4 c.331G>A Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA. AGCTTTCAGCCGTGTCAGGTG 0.423000 8 4 0 0 1 0 0 GOLGA6L6 727832 broad.mit.edu 37 15 20743926 20743926 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:20743926C>T uc001ytk.2 - 2 457 c.366G>A c.(364-366)agG>agA p.R122R DQ595648_uc021sey.1_5'Flank NM_001145004 NP_001138476 A8MZA4 GG6L6_HUMAN Homo sapiens golgin A6 family-like 6 (GOLGA6L6), mRNA. 122 NS(3)|endometrium(4)|kidney(1)|skin(3) 11 CTAGCTCCCTCCTTAGGGCTT 0.493000 1 7 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47754290 47754290 + Missense_Mutation SNP T A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:47754290T>A uc003ozc.3 + 1 198 c.170T>A c.(169-171)aTg>aAg p.M57K OPN5_uc003ozd.3_5'Flank NM_181744 NP_859528 Q6U736 OPN5_HUMAN Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA. 57 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 GTCCTTTACATGTCTTCTAGA 0.378000 35 39 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 111912 111912 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:111912G>A uc002cfl.4 - 7 1235 c.1092C>T c.(1090-1092)ttC>ttT p.F364F RHBDF1_uc010uty.2_Silent_p.F387F|RHBDF1_uc010utz.2_Silent_p.F364F|RHBDF1_uc010bqo.1_Non-coding_Transcript NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA. 364 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) TCTCCCGGGCGAAGAGCTTGC 0.711000 18 15 0 0 1 0 0 APOD 347 broad.mit.edu 37 3 195298153 195298153 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:195298153G>A uc003fur.2 - 3 691 c.329C>T c.(328-330)tCc>tTc p.S110F APOD_uc011bsx.1_Missense_Mutation_p.S110F NM_001647 NP_001638 P05090 APOD_HUMAN Homo sapiens apolipoprotein D (APOD), mRNA. 110 lipid metabolic process extracellular space lipid binding|lipid transporter activity|protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CTTACACCAGGAAAACTTAAC 0.483000 75 77 0 0 1 0 0 FAM149A 25854 broad.mit.edu 37 4 187078777 187078777 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:187078777C>T uc003iyt.4 + 7 1212 c.633C>T c.(631-633)ctC>ctT p.L211L FAM149A_uc011cla.1_Silent_p.L211L|FAM149A_uc010isj.2_Silent_p.L211L|FAM149A_uc010isk.2_Non-coding_Transcript|FAM149A_uc010isl.3_Silent_p.L211L|FAM149A_uc011clb.2_Silent_p.L211L NM_015398 NP_056213 A5PLN7 F149A_HUMAN Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA. 502 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) CGCACGTCCTCGTTCCACACG 0.542000 46 37 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123845834 123845834 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:123845834G>A uc001lfv.3 + 3 4179 c.3819G>A c.(3817-3819)gaG>gaA p.E1273E TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.E1273E|TACC2_uc010qtv.2_Silent_p.E1273E NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1273 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTGTAGGGGAGCCCCCACTTG 0.602000 32 17 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154876092 154876092 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:154876092C>T uc003wlu.1 + 1 1033 c.969C>T c.(967-969)ttC>ttT p.F323F NM_024012 NP_076917 P47898 5HT5A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA. 323 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AAAGCATCTTCCTGTGGCTTG 0.507000 90 39 0 0 1 0 0 LRCH4 4034 broad.mit.edu 37 7 100175351 100175351 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:100175351G>A uc003uvj.3 - 8 1105 c.1052C>T c.(1051-1053)cCt>cTt p.P351L LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript NM_002319 NP_002310 O75427 LRCH4_HUMAN Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA. 351 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AATCTGCACAGGGTCTCCGTC 0.657000 90 40 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85952307 85952307 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:85952307C>T uc002fjh.3 + 6 943 c.886C>T c.(886-888)Cgc>Tgc p.R296C NM_002163 NP_002154 Q02556 IRF8_HUMAN Homo sapiens interferon regulatory factor 8 (IRF8), mRNA. 296 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) GTGCCAGGGCCGCGTGTTCTG 0.662000 18 10 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234749306 234749306 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:234749306G>A uc002vvg.3 - 7 2186 c.2120C>T c.(2119-2121)aCc>aTc p.T707I HJURP_uc010znd.2_Missense_Mutation_p.T646I|HJURP_uc010zne.2_Missense_Mutation_p.T615I NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Homo sapiens Holliday junction recognition protein (HJURP), mRNA. 707 CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) CGGTCTGACGGTGTTGTCCAC 0.562000 64 45 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41313844 41313846 + Missense_Mutation DNP GA AT AT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:41313844_41313846GA>AT uc003jmm.1 - 2 941_943 c.839_841TC>AT c.(838-843)gtccgc>gATgc p.280_281VR>D NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA. 280 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TTCTGCGTGCGGACCCACTGCAT 0.429000 26 7 0 0 1 0 0 HSP90AB3P 3327 broad.mit.edu 37 4 88815087 88815087 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:88815087G>A uc010iko.1 + 3 1714 c.1714G>A c.(1714-1716)Gaa>Aaa p.E572K Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA. GGCAGCAGAGGAACCCAGTGA 0.502000 87 96 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586509 20586509 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:20586509C>T uc001vwo.1 + 0 944 c.944C>T c.(943-945)cCa>cTa p.P315L NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P315Q(2) kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ATCTTGAATCCAATTATCTAT 0.348000 13 8 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739427 55739427 + Silent SNP G T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:55739427G>T uc003pcq.3 - 0 949 c.237C>A c.(235-237)ctC>ctA p.L79L BMP5_uc011dxf.2_Silent_p.L79L NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 79 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CCAGCATAAAGAGAGGTGCAG 0.473000 49 45 2.79147e-13 2.80498e-13 1 1 0 PTPN22 26191 broad.mit.edu 37 1 114391169 114391169 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:114391169C>T uc001eds.3 - 10 1038 c.908G>A c.(907-909)gGa>gAa p.G303E PTPN22_uc021orx.1_Missense_Mutation_p.G303E|PTPN22_uc009wgq.3_Intron|PTPN22_uc021ory.1_Missense_Mutation_p.G279E|PTPN22_uc010owo.2_Missense_Mutation_p.G59E|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.G303E|PTPN22_uc009wgs.2_Missense_Mutation_p.G176E|PTPN22_uc001edu.2_Missense_Mutation_p.G303E NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA. 303 T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm SH3 domain binding|kinase binding|protein tyrosine phosphatase activity NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TACCTCTGTTCCAGAATGTTT 0.333000 102 91 0 0 1 0 0 UCN3 114131 broad.mit.edu 37 10 5415840 5415840 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:5415840C>T uc001ihx.1 + 1 381 c.157C>T c.(157-159)Ctg>Ttg p.L53L NM_053049 NP_444277 Q969E3 UCN3_HUMAN Homo sapiens urocortin 3 (stresscopin) (UCN3), mRNA. 53 extracellular region hormone activity endometrium(1)|large_intestine(1) 2 GGATGCATCCCTGCTGAGCAA 0.592000 17 5 0 0 1 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36233575 36233575 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:36233575G>A uc002obg.3 - 7 914 c.605C>T c.(604-606)tCc>tTc p.S202F IGFLR1_uc002obb.3_5'Flank|IGFLR1_uc002obc.3_5'Flank|IGFLR1_uc010xsy.2_5'Flank|IGFLR1_uc002obd.4_5'Flank|IGFLR1_uc010eej.3_Intron|U2AF1L4_uc002obe.3_3'UTR|U2AF1L4_uc002obf.3_Missense_Mutation_p.S178F|U2AF1L4_uc002obh.1_3'UTR|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank Q8WU68 U2AF4_HUMAN Homo sapiens U2 small nuclear RNA auxiliary factor 1-like 4 (U2AF1L4), transcript variant 1, mRNA. 0 RNA splicing|mRNA processing nuclear speck|spliceosomal complex RNA binding|nucleotide binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTCCTGCCAGGAACATCTGTC 0.592000 62 35 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7651486 7651486 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:7651486C>T uc001qsz.3 - 3 884 c.756G>A c.(754-756)gaG>gaA p.E252E CD163_uc001qta.3_Silent_p.E252E|CD163_uc009zfw.2_Silent_p.E252E NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 252 SRCR 2. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CTCCAGCATCCTCAGCATGAT 0.428000 105 52 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72408111 72408111 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:72408111G>A uc001osu.3 - 21 3272 c.3083C>T c.(3082-3084)tCc>tTc p.S1028F ARAP1_uc001osv.3_Missense_Mutation_p.S1028F|ARAP1_uc001osr.3_Missense_Mutation_p.S788F|ARAP1_uc001oss.3_Missense_Mutation_p.S783F|ARAP1_uc009yth.3_Missense_Mutation_p.S722F|ARAP1_uc010rre.2_Missense_Mutation_p.S783F NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 1028 Rho-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GAGCGCCGAGGAAACATCATC 0.667000 36 41 0 0 1 0 0 CEL 1056 broad.mit.edu 37 9 135939861 135939861 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:135939861C>T uc010naa.1 + 1 162 c.146C>T c.(145-147)tCt>tTt p.S49F NM_001807 NP_001798 P19835 CEL_HUMAN Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA. 46 Heparin-binding. cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CTGGGTGACTCTGTGGACATC 0.632000 40 21 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76528873 76528873 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:76528873C>T uc002fex.1 + 12 2295 c.2156C>T c.(2155-2157)tCg>tTg p.S719L CNTNAP4_uc002feu.1_Missense_Mutation_p.S715L|CNTNAP4_uc002fev.1_Missense_Mutation_p.S580L|CNTNAP4_uc010chb.1_Missense_Mutation_p.S643L|CNTNAP4_uc002few.2_Missense_Mutation_p.S691L NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 716 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding p.S691L(2)|p.S643L(2) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGAGGTTCTTCGCCTGATCTT 0.423000 72 57 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176845688 176845688 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:176845688C>T uc001glc.3 - 20 3660 c.3448G>A c.(3448-3450)Gat>Aat p.D1150N ASTN1_uc001glb.1_Missense_Mutation_p.D1150N|ASTN1_uc001gld.1_Missense_Mutation_p.D1150N NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 1158 cell migration|neuron cell-cell adhesion integral to membrane p.D1149Y(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCCTTGACATCATCCACCACG 0.577000 69 20 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336210 147336210 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:147336210G>A uc003weu.2 + 12 2426 c.1910G>A c.(1909-1911)tGg>tAg p.W637* NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 637 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.W637*(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GACAAAGTGTGGACCATAGTG 0.463000 HNSCC(39;0.1) 54 22 0 0 1 0 0 PTBP1 5725 broad.mit.edu 37 19 808727 808727 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:808727C>T uc002lpr.2 + 11 1456 c.1350C>T c.(1348-1350)ttC>ttT p.F450F PTBP1_uc002lps.2_Silent_p.F116F|PTBP1_uc002lpp.2_Silent_p.F476F|PTBP1_uc002lpq.2_Silent_p.F469F NM_031991 NP_114368 P26599 PTBP1_HUMAN Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA. 450 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAACATATTCCCGCCCTCGG 0.672000 11 11 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854524 12854524 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:12854524G>A uc001auj.2 + 2 851 c.748G>A c.(748-750)Gaa>Aaa p.E250K NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 250 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTCAGATAATGAACTCCAAGG 0.443000 41 70 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126371563 126371563 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:126371563G>A uc003ifj.4 + 8 9392 c.9392G>A c.(9391-9393)gGa>gAa p.G3131E FAT4_uc011cgp.2_Missense_Mutation_p.G1429E|FAT4_uc003ifi.1_Missense_Mutation_p.G609E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3131 Cadherin 30. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATTTCTTCAGGAAATGAAGAA 0.398000 33 31 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140218300 140218300 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:140218300G>A uc004cmp.2 - 18 2257 c.2061C>T c.(2059-2061)gcC>gcT p.A687A EXD3_uc010ncf.1_Silent_p.A338A NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA. 687 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CCCCGACCTGGGCCCGGAGCT 0.692000 12 13 0 0 1 0 0 SMC5 23137 broad.mit.edu 37 9 72879317 72879317 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:72879317C>T uc004ahr.2 + 1 400 c.283C>T c.(283-285)Ctt>Ttt p.L95F NM_015110 NP_055925 Q8IY18 SMC5_HUMAN Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA. 95 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 TGCCATTTGCCTTGGTTTAGC 0.383000 78 30 0 0 1 0 0 SLC24A6 80024 broad.mit.edu 37 12 113758480 113758480 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:113758480G>A uc001tvc.3 - 5 642 c.432C>T c.(430-432)ttC>ttT p.F144F SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_5'UTR NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA. 144 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CAAATGCCAGGAAGGTGACGC 0.637000 17 4 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57838006 57838006 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:57838006C>T uc002qoi.2 + 2 508 c.151C>T c.(151-153)Cct>Tct p.P51S NM_213598 NP_998763 Q08ER8 ZN543_HUMAN Homo sapiens zinc finger protein 543 (ZNF543), mRNA. 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CACAGGCTGTCCTTTGTTCAA 0.488000 35 19 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50667138 50667138 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:50667138C>T uc002egg.2 + 9 1083 c.859C>T c.(859-861)Ccc>Tcc p.P287S NM_033119 NP_149110 Q969G9 NKD1_HUMAN Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA. 287 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) AGAACTGCCCCCCCGCACCTC 0.597000 56 39 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766497 27766497 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:27766497C>T uc011mjy.2 + 0 1572 c.1485C>T c.(1483-1485)ttC>ttT p.F495F NM_001136533 NP_001130005 Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA. central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 GGCACATCTTCTTCTGGGAGA 0.458000 2 3 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95164179 95164179 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:95164179G>A uc003ygh.2 - 12 1838 c.1713C>T c.(1711-1713)ttC>ttT p.F571F CDH17_uc011lgo.1_Silent_p.F357F|CDH17_uc011lgp.1_Silent_p.F571F NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 571 Cadherin 6. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CTTTCGCTTGGAATACGTGTT 0.448000 45 50 0 0 1 0 0 KLRAP1 10748 broad.mit.edu 37 12 10750659 10750659 + RNA SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:10750659C>T uc010shf.2 - 1 c.464G>A KLRAP1_uc010shg.2_Non-coding_Transcript|KLRAP1_uc009zho.3_Non-coding_Transcript|KLRAP1_uc009zhn.3_Non-coding_Transcript Homo sapiens killer cell lectin-like receptor subfamily A pseudogene 1 (KLRAP1), non-coding RNA. breast(1)|large_intestine(1)|lung(1) 3 ATCAGTTTTCCCAGGCCTTTG 0.368000 66 54 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24309759 24309759 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:24309759G>A uc002nru.3 + 3 1091 c.957G>A c.(955-957)aaG>aaA p.K319K ZNF254_uc010xrk.2_Silent_p.K234K NM_203282 NP_975011 O75437 ZN254_HUMAN Homo sapiens zinc finger protein 254 (ZNF254), mRNA. 319 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATACTAGAAAGAAACCCTACA 0.388000 26 24 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212435 26212435 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:26212435G>A uc022buc.1 + 0 472 c.472G>A c.(472-474)Gat>Aat p.D158N MAGEB6_uc004dbr.3_Missense_Mutation_p.D158N NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 158 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TGGCTCGCCTGATGCAGGTGT 0.512000 5 15 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48631188 48631188 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:48631188C>T uc002pia.1 - 19 2031 c.1911G>A c.(1909-1911)gtG>gtA p.V637V LIG1_uc010xze.1_Silent_p.V330V|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Silent_p.V569V|LIG1_uc010xzg.1_Silent_p.V606V NM_000234 NP_000225 P18858 DNLI1_HUMAN Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA. 637 DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding p.Q636K(1) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GGGTGGTGAGCACTTGGAATG 0.577000 Nucleotide excision repair (NER) 165 101 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6374336 6374336 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:6374336G>A uc003gja.3 - 4 563 c.539C>T c.(538-540)tCc>tTc p.S180F PPP2R2C_uc003gjb.3_Missense_Mutation_p.S163F|PPP2R2C_uc003gjc.3_Missense_Mutation_p.S180F|PPP2R2C_uc011bwd.2_Missense_Mutation_p.S173F|PPP2R2C_uc011bwe.2_Missense_Mutation_p.S173F|PPP2R2C_uc003gjd.1_Missense_Mutation_p.S268F NM_181876 NP_870991 Q9Y2T4 2ABG_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA. 180 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 ACTGTTGACGGAGATGGAGTT 0.572000 168 56 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21396374 21396374 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:21396374G>A uc001unq.4 - 7 931 c.895C>T c.(895-897)Ctt>Ttt p.L299F NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN Homo sapiens exportin 4 (XPO4), mRNA. 299 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AACTGGGCAAGGCACTGCAGA 0.373000 48 54 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8982210 8982210 + Missense_Mutation SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:8982210C>A uc002mkp.3 - 69 42269 c.42065G>T c.(42064-42066)gGc>gTc p.G14022V MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G839V|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 14047 SEA 13. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCGGGTGATGCCATGGGTCTG 0.637000 31 19 3.8784e-16 3.90528e-16 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113170295 113170295 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:113170295G>A uc010mtz.3 - 37 7922 c.7585C>T c.(7585-7587)Cgg>Tgg p.R2529W SVEP1_uc010mty.3_Missense_Mutation_p.R455W NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2529 Sushi 19. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCTTCGAGCCGAAAGCCTCGG 0.498000 19 6 0 0 1 0 0 AK310441 0 broad.mit.edu 37 1 148891699 148891699 + RNA SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:148891699C>T uc009wkv.1 + 8 c.1001C>T Homo sapiens cDNA, FLJ17483. TCCAGACATCCAATCAGAACA 0.363000 81 11 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33334773 33334773 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:33334773G>A uc002ntv.4 - 9 1179 c.1062C>T c.(1060-1062)gcC>gcT p.A354A SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Silent_p.A354A|SLC7A9_uc021usa.1_Silent_p.A354A|SLC7A9_uc002ntw.4_Silent_p.A145A NM_001126335 NP_055085 P82251 BAT1_HUMAN Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA. 354 A -> T (in CSNU; type III; severe loss of amino acid transport activity). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding p.A354T(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) AAAAGATGATGGCGGGGGCTG 0.552000 26 16 0 0 1 0 0 SERINC5 256987 broad.mit.edu 37 5 79498805 79498805 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:79498805G>A uc011ctj.2 - 1 252 c.95C>T c.(94-96)tCc>tTc p.S32F SERINC5_uc003kgj.3_Missense_Mutation_p.S32F|SERINC5_uc003kgm.3_Missense_Mutation_p.S32F|SERINC5_uc003kgk.3_Missense_Mutation_p.S32F|SERINC5_uc003kgl.3_Non-coding_Transcript NM_001174072 NP_001167543 Q86VE9 SERC5_HUMAN Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA. 32 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GGTGCTGAGGGACTGCCGAAT 0.552000 27 7 0 0 1 0 0 DCTD 1635 broad.mit.edu 37 4 183815719 183815719 + Missense_Mutation SNP G A A rs17849458 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:183815719G>A uc003ivf.3 - 3 458 c.284C>T c.(283-285)tCg>tTg p.S95L DCTD_uc003ivg.3_Missense_Mutation_p.S106L|DCTD_uc010irw.3_Missense_Mutation_p.S36L|DCTD_uc003ivh.3_Missense_Mutation_p.S36L NM_001921 NP_001912 P32321 DCTD_HUMAN Homo sapiens dCMP deaminase (DCTD), transcript variant 2, mRNA. 95 S -> L (in Ref. 6; AAH01286). nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding p.S95L(2) endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) CACATCGGTCGAATTTTTGTT 0.438000 67 20 0 0 1 0 0 ZNF805 390980 broad.mit.edu 37 19 57764906 57764906 + Missense_Mutation SNP T A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:57764906T>A uc010ygt.2 + 3 926 c.719T>A c.(718-720)tTt>tAt p.F240Y ZNF805_uc010ygu.2_Missense_Mutation_p.F107Y|ZNF805_uc021vcj.1_Missense_Mutation_p.F107Y NM_001023563 NP_001138550 Q5CZA5 ZN805_HUMAN Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA. 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1) 9 GGAAAAACCTTTAGCAAGAGT 0.478000 11 4 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160032940 160032940 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:160032940G>A uc002uag.3 + 12 2087 c.1813G>A c.(1813-1815)Gga>Aga p.G605R TANC1_uc010fol.1_Missense_Mutation_p.G499R|TANC1_uc010zcm.2_Missense_Mutation_p.G597R|TANC1_uc010fom.1_Missense_Mutation_p.G411R NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA. 605 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 ACCTGATTATGGAGATACGCT 0.303000 24 11 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32023880 32023880 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:32023880G>A uc003nzl.2 - 23 8417 c.8215C>T c.(8215-8217)Ctg>Ttg p.L2739L NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2797 Fibronectin type-III 19. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGCTCCCCCAGGAGCGGCTCC 0.627000 65 54 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115130016 115130016 + Missense_Mutation SNP C T T rs139442561 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:115130016C>T uc001efd.1 - 19 3449 c.2747G>A c.(2746-2748)cGg>cAg p.R916Q DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.R859Q NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 916 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCAAGACTCCGCAAAATTCT 0.468000 164 164 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002676 122002676 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:122002676C>T uc003eew.4 + 6 2343 c.1905C>T c.(1903-1905)ttC>ttT p.F635F CASR_uc003eev.4_Silent_p.F625F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 625 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGGGCATTTTCCTGACAGCCT 0.552000 47 20 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140773326 140773326 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140773326G>A uc003lkd.2 + 0 1844 c.946G>A c.(946-948)Gaa>Aaa p.E316K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.E316K|PCDHGC5_uc003lkc.2_Intron NM_032088 NP_114477 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA. 317 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCATTTTATGAAATGGAAAT 0.358000 181 55 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144874250 144874250 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:144874250G>A uc003yzp.1 - 32 4575 c.4568C>T c.(4567-4569)tCc>tTc p.S1523F SCRIB_uc003yzn.1_Missense_Mutation_p.S256F|SCRIB_uc003yzo.1_Missense_Mutation_p.S1523F NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 1523 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCCTTCCTGGGACCTGCTGAG 0.687000 19 4 0 0 1 0 0 GAS2 2620 broad.mit.edu 37 11 22777493 22777493 + Silent SNP C T T rs139683102 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:22777493C>T uc009yie.3 + 6 1023 c.717C>T c.(715-717)ttC>ttT p.F239F GAS2_uc001mqm.3_Silent_p.F239F|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Silent_p.F239F NM_001143830 NP_808221 O43903 GAS2_HUMAN Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA. 239 GAR. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 AGATCCTCTTCATTAGGGTAA 0.398000 13 14 0 0 1 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128975787 128975787 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:128975787G>A uc004euv.3 - 1 597 c.135C>T c.(133-135)atC>atT p.I45I ZDHHC9_uc004euw.3_Silent_p.I45I|ZDHHC9_uc004eux.1_Silent_p.I45I|ZDHHC9_uc004euy.1_Intron NM_001008222 NP_057116 Q9Y397 ZDHC9_HUMAN Homo sapiens zinc finger, DHHC-type containing 9 (ZDHHC9), transcript variant 2, mRNA. 45 Golgi membrane|endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 ATGTCCCCAGGATGAGGAAAA 0.502000 17 45 0 0 1 0 0 CNTROB 116840 broad.mit.edu 37 17 7846733 7846733 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:7846733C>T uc002gjp.3 + 10 2286 c.1336C>T c.(1336-1338)Cag>Tag p.Q446* CNTROB_uc002gjq.3_Nonsense_Mutation_p.Q446*|CNTROB_uc002gjr.3_Nonsense_Mutation_p.Q348*|CNTROB_uc010vum.1_Nonsense_Mutation_p.Q158* NM_001037144 NP_001032221 Q8N137 CNTRB_HUMAN Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA. 446 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) CCAGCGGATCCAGCTGGAGTC 0.592000 31 36 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926949 1926949 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:1926949C>T uc002qxe.3 - 9 1419 c.592G>A c.(592-594)Gat>Aat p.D198N MYT1L_uc002qxd.3_Missense_Mutation_p.D198N|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 198 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACCAGTTCATCGTAATTGTCA 0.408000 13 14 0 0 1 0 0 LPCAT4 254531 broad.mit.edu 37 15 34657825 34657825 + Silent SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:34657825A>G uc001zig.3 - 1 286 c.192T>C c.(190-192)ttT>ttC p.F64F LPCAT4_uc010bav.1_Silent_p.F64F NM_153613 NP_705841 Q643R3 LPCT4_HUMAN Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA. 64 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 GAAGCCAGGCAAAGGGCCAGA 0.572000 46 16 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10861488 10861488 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:10861488C>T uc003bvz.3 + 2 517 c.483C>T c.(481-483)tgC>tgT p.C161C SLC6A11_uc003bvy.1_Silent_p.C161C NM_014229 NP_055044 P48066 S6A11_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA. 161 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TGAGCAACTGCTTCACTACTG 0.532000 118 37 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66703764 66703764 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:66703764C>T uc001sti.2 + 3 1084 c.1056C>T c.(1054-1056)ttC>ttT p.F352F HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript NM_033647 NP_387467 Q8NG08 HELB_HUMAN Homo sapiens helicase (DNA) B (HELB), mRNA. 352 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) CCTGTGTCTTCCCTTATGACC 0.413000 116 74 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671179 49671179 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:49671179C>T uc002pmw.3 + 3 381 c.273C>T c.(271-273)ctC>ctT p.L91L TRPM4_uc010emu.3_Silent_p.L91L|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Intron|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 91 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CACAGTTCCTCCGGCTCTCTG 0.627000 85 43 0 0 1 0 0 MMP26 56547 broad.mit.edu 37 11 5010977 5010977 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:5010977G>A uc001lzv.3 + 1 217 c.199G>A c.(199-201)Gac>Aac p.D67N NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA. 67 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) GAATGGGACAGACCTACTTGA 0.532000 33 15 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390564 158390564 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:158390564G>A uc010pii.2 - 0 93 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) AGAGGAGCAGGAAGATAACAA 0.527000 20 39 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86959195 86959195 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:86959195C>T uc001dlt.3 + 9 1853 c.1593C>T c.(1591-1593)ctC>ctT p.L531L CLCA1_uc001dls.1_Silent_p.L470L NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN Homo sapiens chloride channel accessory 1 (CLCA1), mRNA. 531 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AAATCCTTCTCTGGGATCCCA 0.507000 39 39 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67066484 67066484 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:67066484G>A uc003xvv.3 + 8 1665 c.1439G>A c.(1438-1440)cGg>cAg p.R480Q TRIM55_uc003xvu.3_Missense_Mutation_p.R480Q|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 480 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding p.R480W(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TCGAATGTACGGAAGGCAGAA 0.567000 45 22 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406282 38406282 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:38406282G>A uc003jlc.2 + 6 1113 c.767G>A c.(766-768)gGa>gAa p.G256E EGFLAM_uc003jlb.2_Missense_Mutation_p.G256E|EGFLAM_uc003jle.2_Missense_Mutation_p.G22E|EGFLAM_uc003jlf.2_Intron NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 256 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ACCGACATGGGAGCTGGTGAG 0.483000 81 12 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106725369 106725369 + RNA SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:106725369C>T uc021ser.1 - 927 c.22143G>A Parts of antibodies, mostly variable regions. CCAGCCCCTTCCCTGGAGCCT 0.582000 130 85 0 0 1 0 0 USP5 8078 broad.mit.edu 37 12 6975226 6975226 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:6975226G>A uc001qri.4 + 19 2621 c.2562G>A c.(2560-2562)caG>caA p.Q854Q USP5_uc001qrh.4_Silent_p.Q831Q|TPI1_uc001qrk.3_5'Flank|TPI1_uc010sfo.2_5'Flank NM_001098536 NP_001092006 P45974 UBP5_HUMAN Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA. 854 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 ACTTCTACCAGAGAGTGGCCA 0.577000 35 11 0 0 1 0 0 ZNF623 9831 broad.mit.edu 37 8 144733037 144733037 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:144733037C>T uc003yzd.2 + 0 1084 c.995C>T c.(994-996)tCa>tTa p.S332L ZNF623_uc011lkp.1_Missense_Mutation_p.S292L|ZNF623_uc003yzc.2_Missense_Mutation_p.S292L NM_014789 NP_055604 O75123 ZN623_HUMAN Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA. 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) ATTCGGAGTTCAAAGCTCATT 0.493000 57 42 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101561890 101561890 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:101561890G>A uc001thz.4 - 10 1694 c.1304C>T c.(1303-1305)cCc>cTc p.P435L NM_145913 NP_666018 Q8N695 SC5A8_HUMAN Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. 435 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTTGGCAAAGGGAACCAAAAT 0.398000 8 4 0 0 1 0 0 CTSF 8722 broad.mit.edu 37 11 66335115 66335115 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:66335115G>A uc001oip.3 - 2 421 c.331C>T c.(331-333)Ctg>Ttg p.L111L NM_003793 NP_003784 Q9UBX1 CATF_HUMAN Homo sapiens cathepsin F (CTSF), mRNA. 111 proteolysis lysosome cysteine-type endopeptidase activity p.L111V(2) endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 AGCTCATCCAGGACTTGGAAG 0.612000 46 85 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34546782 34546782 + Silent SNP G A A rs146726039 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:34546782G>A uc001zhw.3 - 7 1049 c.885C>T c.(883-885)atC>atT p.I295I SLC12A6_uc001zhv.3_Silent_p.I244I|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.I280I|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.I236I|SLC12A6_uc001zib.3_Silent_p.I286I|SLC12A6_uc001zic.3_Silent_p.I295I|SLC12A6_uc010bau.3_Silent_p.I295I|SLC12A6_uc001zid.3_Silent_p.I236I|SLC12A6_uc001zhu.3_Silent_p.I107I NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA. 295 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CTCGGGGGACGATATAGACCT 0.383000 26 10 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47403767 47403767 + Missense_Mutation SNP C T T rs145173494 by1000genomes TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:47403767C>T uc001cqp.4 - 1 289 c.238G>A c.(238-240)Gag>Aag p.E80K CYP4A11_uc001cqq.2_Missense_Mutation_p.E80K|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 80 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GGGAATGTCTCCACCCATTTC 0.488000 111 40 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94841610 94841610 + Missense_Mutation SNP G A A rs149237812 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:94841610G>A uc002btj.3 + 0 181 c.116G>A c.(115-117)cGg>cAg p.R39Q MCTP2_uc010urg.1_Missense_Mutation_p.R39Q|MCTP2_uc002bti.2_Missense_Mutation_p.R39Q|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.R39Q|MCTP2_uc002btg.4_Missense_Mutation_p.R39Q|MCTP2_uc002bth.4_Missense_Mutation_p.R39Q NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 39 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CCAGATCTACGGGCAAGGCAT 0.572000 28 21 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142564271 142564271 + Missense_Mutation SNP C G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142564271C>G uc011kst.2 + 9 2282 c.1495C>G c.(1495-1497)Cgg>Ggg p.R499G EPHB6_uc011ksu.2_Missense_Mutation_p.R499G|EPHB6_uc003wbs.3_Missense_Mutation_p.R207G|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.R207G|EPHB6_uc003wbv.3_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 499 Fibronectin type-III 2. R -> Q (in dbSNP:rs8177175). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CCAGGTGAGCCGGGCATCCAA 0.582000 63 34 0 0 1 0 0 SPDYE4 388333 broad.mit.edu 37 17 8656650 8656650 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:8656650C>T uc010cnz.1 - 4 820 c.643G>A c.(643-645)Gag>Aag p.E215K NM_001128076 NP_001121548 A6NLX3 SPDE4_HUMAN Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA. 215 breast(1)|endometrium(2)|kidney(1) 4 TCCTCCATCTCCTCTGGGGAA 0.612000 5 3 0 0 1 0 0 FUT4 2526 broad.mit.edu 37 11 94278590 94278590 + Missense_Mutation SNP T A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:94278590T>A uc001pez.3 + 0 1574 c.1291T>A c.(1291-1293)Ttg>Atg p.L431M PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank NM_002033 NP_002024 P22083 FUT4_HUMAN Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA. 431 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCGCAACGCGTTGCTCGCTGG 0.622000 27 10 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37650494 37650494 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:37650494C>T uc002xjh.3 + 15 1539 c.1509C>T c.(1507-1509)ggC>ggT p.G503G DHX35_uc010zwa.2_Silent_p.G348G|DHX35_uc010zwc.2_Silent_p.G472G|DHX35_uc010zwb.2_Silent_p.G348G NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA. 503 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding p.G503C(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) GAAACTTCGGCTGTTCTCAGG 0.428000 129 110 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103136327 103136327 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:103136327G>A uc002tbz.4 + 8 2188 c.1731G>A c.(1729-1731)agG>agA p.R577R NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 577 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GGGCCCAGAGGATACAAGGAA 0.453000 29 20 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175054588 175054588 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:175054588G>A uc001gkl.1 + 5 1395 c.1282G>A c.(1282-1284)Gga>Aga p.G428R TNN_uc010pmx.1_Missense_Mutation_p.G428R NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 428 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCCCATGAGAGGAGAGCTGGA 0.542000 13 21 0 0 1 0 0 P2RX3 5024 broad.mit.edu 37 11 57136835 57136835 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:57136835G>A uc001nju.3 + 11 1187 c.1003_splice c.e11-1 p.G335_splice NM_002559 NP_002550 P56373 P2RX3_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA. 335 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 CTCCTCCAGGGAACTGTTCTC 0.627000 158 61 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142001090 142001090 + Missense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142001090A>T uc011kro.1 + 1 227 c.182A>T c.(181-183)aAa>aTa p.K61I TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; TTGGGGCAGAAAGTCGAGTTT 0.398000 10 5 0 0 1 0 0 KCTD14 65987 broad.mit.edu 37 11 77727910 77727910 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:77727910G>A uc001oyw.4 - 1 522 c.497C>T c.(496-498)tCc>tTc p.S166F NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA. 166 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) AAGCACGCTGGACTTCCGTGC 0.527000 117 49 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 114 139 0 0 1 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050768 110050768 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:110050768G>A uc021org.1 - 0 767 c.767C>T c.(766-768)tCc>tTc p.S256F AMIGO1_uc001dxx.4_Missense_Mutation_p.S256F NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA. 256 LRRCT. axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) CAGCTTCTTGGAGTTCATGCA 0.527000 89 32 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110504139 110504139 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:110504139G>A uc003yne.3 + 61 10256 c.10152G>A c.(10150-10152)ggG>ggA p.G3384G NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3384 immune response cytosol|extracellular space|integral to membrane receptor activity p.R3383Q(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAGTCCGAGGGAATTTGATTG 0.383000 HNSCC(38;0.096) 16 7 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49052843 49052843 + Silent SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:49052843T>C uc003gyv.3 + 14 2180 c.1998T>C c.(1996-1998)tcT>tcC p.S666S CWH43_uc011bzl.2_Silent_p.S639S NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 666 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GAGAAGTTTCTGAGAAAATTC 0.388000 34 25 0 0 1 0 0 NAGS 162417 broad.mit.edu 37 17 42084743 42084744 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:42084743_42084744GG>AA uc010czn.3 + 4 1149_1150 c.1149_1150GG>AA c.(1147-1152)ctggac>ctAAac p.D384N PYY_uc002ieq.3_5'Flank|NAGS_uc002ies.3_Missense_Mutation_p.D384N|NAGS_uc002iet.3_Missense_Mutation_p.D8N NM_153006 NP_694551 Q8N159 NAGS_HUMAN Homo sapiens N-acetylglutamate synthase (NAGS), mRNA. 384 N-acetyltransferase. arginine biosynthetic process|urea cycle mitochondrial matrix acetyl-CoA:L-glutamate N-acetyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 Breast(137;0.00536)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) L-Glutamic Acid(DB00142) TGCGCAGCCTGGACAAGCTGGA 0.668000 OREG0024449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 22 0 0 1 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681356 44681356 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:44681356C>T uc003bet.2 - 3 684 c.551G>A c.(550-552)gGa>gAa p.G184E NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN Homo sapiens KIAA1644 (KIAA1644), mRNA. 184 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GTGAGCATCTCCCCGCAATGT 0.642000 79 33 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46058075 46058075 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:46058075G>A uc002zfq.3 + 0 803 c.741G>A c.(739-741)caG>caA p.Q247Q TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA. 247 keratin filament p.Q247H(2) NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 GCTCTGGCCAGAAGTCCAGCT 0.672000 42 22 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38884059 38884059 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:38884059G>A uc003jln.2 + 4 951 c.549G>A c.(547-549)ggG>ggA p.G183G OSMR_uc003jlm.2_Silent_p.G183G NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 183 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) ATTTGGAAGGGAAACAGATTC 0.368000 107 60 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32020485 32020485 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:32020485C>T uc003nzl.2 - 25 9273 c.9071G>A c.(9070-9072)gGg>gAg p.G3024E NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3071 Fibronectin type-III 22. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CACGCGCTGCCCCTCGTGGAG 0.657000 97 53 0 0 1 0 0 CCBL1 883 broad.mit.edu 37 9 131605022 131605022 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:131605022G>A uc004bwh.3 - 2 297 c.112C>T c.(112-114)Ccg>Tcg p.P38S CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Missense_Mutation_p.P38S|CCBL1_uc004bwj.3_Missense_Mutation_p.P38S|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.P132S NM_004059 NP_004050 Q16773 KAT1_HUMAN Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA. 38 L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) GGGAAATCCGGGAAGCCCTGG 0.542000 36 14 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20673126 20673126 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:20673126C>T uc002dhm.1 - 5 1050 c.982G>A c.(982-984)Gat>Aat p.D328N ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.D328N NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 328 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CTGGTGAAATCCTGCTGCAGA 0.373000 33 24 0 0 1 0 0 SUV420H2 84787 broad.mit.edu 37 19 55854202 55854202 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:55854202C>T uc002qkj.4 + 3 617 c.369C>T c.(367-369)atC>atT p.I123I SUV420H2_uc010esx.1_Silent_p.I123I|SUV420H2_uc002qkk.1_Silent_p.I123I|SUV420H2_uc002qkl.3_Silent_p.I8I NM_032701 NP_116090 Q86Y97 SV422_HUMAN Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA. 123 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 4 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GGGCCAAGATCGTGTCCACTC 0.587000 44 27 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38463945 38463945 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:38463945G>A uc003jlc.2 + 22 3257 c.2911G>A c.(2911-2913)Gaa>Aaa p.E971K EGFLAM_uc003jlb.2_Missense_Mutation_p.E963K|EGFLAM_uc003jle.2_Missense_Mutation_p.E729K|EGFLAM_uc003jlf.2_Missense_Mutation_p.E329K|EGFLAM_uc003jlg.2_Missense_Mutation_p.E106K|EGFLAM_uc003jlh.2_Missense_Mutation_p.E53K NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 971 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse p.E963K(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGGAATGAAGGAAATTGCTCT 0.537000 84 48 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324073 61324073 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:61324073G>A uc002lji.3 - 6 904 c.760C>T c.(760-762)Ctc>Ttc p.L254F SERPINB3_uc002ljg.3_Missense_Mutation_p.L254F|SERPINB3_uc010dqa.3_Intron NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 254 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 ACCTTCTGGAGACCATCGATT 0.428000 166 44 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180039512 180039512 + Silent SNP G C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:180039512G>C uc003mlz.4 - 25 3610 c.3531C>G c.(3529-3531)ggC>ggG p.G1177G FLT4_uc003mma.4_Silent_p.G1177G NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 1177 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TCACTTGCAGGCCCCTGCCCT 0.662000 77 27 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55212767 55212767 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:55212767C>T uc003jql.3 + 14 2306 c.2114C>T c.(2113-2115)tCg>tTg p.S705L IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Missense_Mutation_p.S686L|IL31RA_uc003jqo.3_Missense_Mutation_p.S563L NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 673 JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TACCTACGTTCGAGGATGCCA 0.527000 73 20 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107343 168107343 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:168107343G>A uc002udx.3 + 8 9530 c.9441G>A c.(9439-9441)aaG>aaA p.K3147K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K2972K|XIRP2_uc010fpq.3_Silent_p.K2925K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2972 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCCCTAAAAAGGACAGTTATG 0.468000 21 14 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85742679 85742679 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:85742679G>A uc003hpd.3 - 10 1557 c.1149C>T c.(1147-1149)gcC>gcT p.A383A WDFY3_uc003hpf.3_Silent_p.A383A NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 383 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GAACTGCAAAGGCCTGGACGT 0.363000 35 34 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23883076 23883076 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:23883076G>A uc001wjx.3 - 38 5788 c.5682C>T c.(5680-5682)tcC>tcT p.S1894S NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1894 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGCGGAACTTGGACAGGTTGG 0.637000 66 34 0 0 1 0 0 COX4I2 84701 broad.mit.edu 37 20 30231314 30231314 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:30231314G>A uc002wwj.1 + 3 430 c.355G>A c.(355-357)Gtg>Atg p.V119M NM_032609 NP_115998 Q96KJ9 COX42_HUMAN Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA. 119 cellular respiration cytochrome-c oxidase activity breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 11 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) CGCAGCTCTGGTGATTTGGTG 0.537000 41 33 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107041240 107041240 + Nonsense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:107041240A>T uc010ywi.1 - 19 3240 c.3183T>A c.(3181-3183)taT>taA p.Y1061* NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 1061 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCCCCTGTGAATACAGAACTT 0.393000 229 110 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37687013 37687013 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:37687013C>T uc010cvv.3 + 13 4503 c.3917C>T c.(3916-3918)tCc>tTc p.S1306F CDK12_uc002hrw.4_Missense_Mutation_p.S1297F NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA. 1306 RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CAACTTTTATCCCAGCCTGAA 0.617000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 197 50 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 45012130 45012130 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:45012130G>A uc010zxr.1 - 9 891 c.681C>T c.(679-681)tcC>tcT p.S227S ELMO2_uc002xrs.1_5'Flank|ELMO2_uc002xrt.1_Silent_p.S227S|ELMO2_uc002xru.1_Silent_p.S227S|ELMO2_uc010zxs.1_Silent_p.S44S|ELMO2_uc002xrw.3_Silent_p.S44S|ELMO2_uc002xrx.1_Silent_p.S227S NM_182764 NP_877496 Q96JJ3 ELMO2_HUMAN Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA. 227 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane SH3 domain binding|lyase activity|receptor tyrosine kinase binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) TCTCCTGGTTGGAGCTGTGTC 0.423000 61 25 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588709 20588709 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:20588709C>T uc001ytg.3 - 27 4061 c.3352_splice c.e27-1 p.E1118_splice HERC2P3_uc010tyx.1_Splice_Site Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GACATTCTTTCCTGAAAAATA 0.299000 57 9 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55570348 55570348 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:55570348C>T uc021pqw.1 - 34 4875 c.4480G>A c.(4480-4482)Ggt>Agt p.G1494S PCDH15_uc010qhq.2_Missense_Mutation_p.G1487S|PCDH15_uc010qhr.2_Missense_Mutation_p.G1482S|PCDH15_uc021pqv.1_Silent_p.L1507L|PCDH15_uc010qht.2_Missense_Mutation_p.G1489S|PCDH15_uc021pqx.1_Silent_p.L1505L NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCAGCTTCACCAACCACCTCA 0.373000 HNSCC(58;0.16) 84 36 0 0 1 0 0 PTPN5 84867 broad.mit.edu 37 11 18750520 18750521 + Missense_Mutation DNP GC AT AT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:18750520_18750521GC>AT uc001mpd.3 - 14 2089_2090 c.1658_1659GC>AT c.(1657-1659)agc>aAT p.S553N IGSF22_uc009yht.2_5'Flank|IGSF22_uc001mpa.2_5'Flank|PTPN5_uc001mpb.3_Missense_Mutation_p.S521N|PTPN5_uc001mpc.3_Missense_Mutation_p.S553N|PTPN5_uc010rdj.2_Missense_Mutation_p.S497N|PTPN5_uc001mpf.3_Missense_Mutation_p.S529N|PTPN5_uc001mpe.3_Missense_Mutation_p.S521N|PTPN5_uc010rdk.2_Missense_Mutation_p.S498N NM_006906 NP_116170 P54829 PTN5_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA. 553 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 TTTCGTAGAGGCTCATGACGTG 0.619000 105 35 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58575454 58575454 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:58575454G>A uc002env.3 - 33 5044 c.4751C>T c.(4750-4752)cCt>cTt p.P1584L CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P1579L|CNOT1_uc010vik.2_Missense_Mutation_p.P541L NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 1584 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GTCATTTGTAGGTAAGAAGCC 0.393000 59 37 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515406 56515406 + Silent SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:56515406C>A uc002qmj.3 + 1 387 c.387C>A c.(385-387)atC>atA p.I129I NLRP5_uc002qmi.3_Silent_p.I129I NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 129 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCATTAGCATCTTTGAAAACA 0.507000 28 18 8.28177e-16 8.33339e-16 1 1 0 SLC43A1 8501 broad.mit.edu 37 11 57256811 57256811 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:57256811G>A uc001nkk.3 - 11 1366 c.1248C>T c.(1246-1248)ctC>ctT p.L416L SLC43A1_uc001nkl.3_Silent_p.L416L NM_001198810 NP_001185739 O75387 LAT3_HUMAN Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA. 416 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 TGGCATTGGTGAGCTTTTGGA 0.542000 141 37 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65350440 65350440 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:65350440G>A uc003juk.2 + 20 3604 c.3294G>A c.(3292-3294)caG>caA p.Q1098Q ERBB2IP_uc011cqx.2_Silent_p.Q1098Q|ERBB2IP_uc003jui.2_Silent_p.Q1098Q|ERBB2IP_uc003jul.2_Silent_p.Q1094Q|ERBB2IP_uc011cqy.2_Silent_p.Q1098Q|ERBB2IP_uc003juj.2_Silent_p.Q1098Q|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Silent_p.Q1094Q NM_001253697 NP_001240626 Q96RT1 LAP2_HUMAN Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA. 1098 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) GGCGGGCTCAGATTCCTGAAG 0.478000 58 19 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38523535 38523535 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:38523535C>T uc010ive.1 - 4 879 c.547G>A c.(547-549)Gag>Aag p.E183K LIFR_uc003jli.2_Missense_Mutation_p.E183K NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 183 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TTTACGAGCTCCATACTCTCT 0.343000 T PLAG1 salivary adenoma 108 53 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151859299 151859299 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:151859299G>A uc003wla.3 - 42 11582 c.11363C>T c.(11362-11364)tCt>tTt p.S3788F MLL3_uc003wkz.3_Missense_Mutation_p.S2849F|MLL3_uc003wky.3_Missense_Mutation_p.S1297F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 3788 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATTCAAAAGAGAAGATGACTT 0.433000 N medulloblastoma 9 10 0 0 1 0 0 OPALIN 93377 broad.mit.edu 37 10 98111145 98111145 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:98111145C>T uc001kmj.3 - 2 501 c.62G>A c.(61-63)gGg>gAg p.G21E OPALIN_uc010qor.2_Missense_Mutation_p.G11E|OPALIN_uc001kmi.3_Missense_Mutation_p.G11E|OPALIN_uc001kmk.3_Intron|OPALIN_uc010qos.2_Intron NM_033207 NP_149984 Q96PE5 OPALI_HUMAN Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA. 21 Golgi apparatus|integral to membrane|plasma membrane p.G21W(1) breast(1)|large_intestine(1)|lung(5)|prostate(2) 9 CGTTTCTTTCCCACCTGTGAC 0.323000 45 20 0 0 1 0 0 FTSJ2 29960 broad.mit.edu 37 7 2279104 2279104 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:2279104G>A uc003slm.3 - 1 276 c.247C>T c.(247-249)Cct>Tct p.P83S FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA. 83 S-adenosyl-L-methionine binding. cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) CAGGCCCCAGGAGCTGCCCCA 0.647000 7 6 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66466947 66466947 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:66466947G>A uc001ojd.3 - 16 3778 c.3706C>T c.(3706-3708)Cgc>Tgc p.R1236C NM_006946 NP_008877 O15020 SPTN2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA. 1236 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 ACCAGCTGGCGGCCAGCCTCC 0.552000 52 50 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 25071603 25071603 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:25071603G>A uc001mqs.3 + 9 1059 c.785G>A c.(784-786)gGa>gAa p.G262E LUZP2_uc009yif.3_Missense_Mutation_p.G176E|LUZP2_uc009yig.3_Missense_Mutation_p.G220E NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA. 262 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 AGTGCTTCTGGAAACAATGAG 0.358000 33 35 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10089604 10089604 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:10089604C>T uc003buw.3 + 15 1360 c.1282C>T c.(1282-1284)Ctt>Ttt p.L428F FANCD2_uc003bux.1_Missense_Mutation_p.L428F|FANCD2_uc003buy.1_Missense_Mutation_p.L428F|FANCD2_uc010hcw.1_5'Flank NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 428 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) ACTCAAGGTTCTTAAGGATAT 0.413000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 165 91 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751676 19751676 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:19751676G>A uc009zzj.3 - 3 552 c.447C>T c.(445-447)ttC>ttT p.F149F NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 149 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GCAGAGATGCGAACCCAGAGC 0.567000 56 69 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834659 125834659 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:125834659G>A uc001uhe.1 + 1 722 c.714G>A c.(712-714)tgG>tgA p.W238* TMEM132B_uc021rgl.1_Nonsense_Mutation_p.W128* NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 238 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AAGGCAAGTGGGAGAACAATA 0.597000 32 17 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925050 4925050 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrY:4925050C>T uc004fqo.3 + 0 920 c.186C>T c.(184-186)atC>atT p.I62I PCDH11Y_uc010nwg.1_Silent_p.I51I|PCDH11Y_uc004fql.1_Silent_p.I51I|PCDH11Y_uc004fqm.1_Silent_p.I51I|PCDH11Y_uc004fqn.1_Silent_p.I62I NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 62 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 ACTACACCATCCGAGAAGAAA 0.463000 6 17 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516445 195516445 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:195516445G>A uc021xjp.1 - 1 2162 c.2006C>T c.(2005-2007)tCt>tTt p.S669F MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.S551F NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 674 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTGAAGGAAGAACCTGGGGT 0.577000 64 52 0 0 1 0 0 YSK4 80122 broad.mit.edu 37 2 135745484 135745484 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:135745484C>T uc002tue.1 - 6 989 c.958G>A c.(958-960)Gaa>Aaa p.E320K YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E207K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.E48K|YSK4_uc002tui.4_Missense_Mutation_p.E337K NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 320 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) TGAGTGATTTCAATTTTGTTA 0.398000 26 12 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16034682 16034682 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:16034682G>A uc002nbu.2 - 6 894 c.858C>T c.(856-858)ttC>ttT p.F286F CYP4F11_uc010eab.1_Silent_p.F286F|CYP4F11_uc002nbt.2_Silent_p.F286F NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 286 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding p.F286S(1) NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTTCTTGAGGAAATCATCAA 0.532000 76 34 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102965595 102965595 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:102965595G>A uc002tbu.1 + 9 1445 c.1174G>A c.(1174-1176)Gat>Aat p.D392N IL18R1_uc002tbw.4_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 392 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 ATCCAGTACAGATGGGGCCAG 0.388000 56 34 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107178951 107178951 + RNA SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:107178951C>T uc021ser.1 - 37 c.2387G>A Parts of antibodies, mostly variable regions. TATTTATCATCATCCCAATCA 0.517000 26 20 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73678374 73678375 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:73678374_73678375GG>AA uc002sje.1 + 7 4828_4829 c.4717_4718GG>AA c.(4717-4719)gga>AAa p.G1573K ALMS1_uc002sjf.1_Missense_Mutation_p.G1531K|ALMS1_uc002sjg.3_Missense_Mutation_p.G961K|ALMS1_uc002sjh.1_Missense_Mutation_p.G961K NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 1573 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CTACTCATTTGGAGAGAAGCCG 0.446000 48 21 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125082829 125082829 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:125082829G>A uc003yqw.3 + 29 4162 c.3956G>A c.(3955-3957)gGa>gAa p.G1319E AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1319 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CGAGTCATAGGAAAATTTAAG 0.408000 87 26 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407027 75407027 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:75407027G>A uc001jut.4 - 3 2535 c.2383C>T c.(2383-2385)Ctg>Ttg p.L795L SYNPO2L_uc001jus.4_Silent_p.L571L NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA. 795 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GAAGGGGGCAGAGACGGGGTA 0.592000 105 44 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26484597 26484597 + Missense_Mutation SNP T G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:26484597T>G uc001mqt.4 + 3 479 c.334T>G c.(334-336)Tac>Gac p.Y112D ANO3_uc010rdr.2_Missense_Mutation_p.Y96D|ANO3_uc010rds.2_5'UTR NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 112 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 AGATAAGGATTACACGGATGA 0.308000 13 5 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39512337 39512337 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:39512337C>T uc003oot.2 - 11 1515 c.1420G>A c.(1420-1422)Gaa>Aaa p.E474K KIF6_uc010jxa.1_Missense_Mutation_p.E265K|KIF6_uc011dua.1_Missense_Mutation_p.E474K|KIF6_uc010jxb.1_Missense_Mutation_p.E474K NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 474 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 ATACTGATTTCGTTATCTCTC 0.408000 31 22 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75969815 75969815 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:75969815C>T uc003kek.3 + 25 3470 c.3248C>T c.(3247-3249)tCg>tTg p.S1083L IQGAP2_uc011csv.2_Missense_Mutation_p.S579L|IQGAP2_uc003kel.3_Missense_Mutation_p.S579L|IQGAP2_uc010izw.1_5'Flank NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 1083 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CTGAAGAATTCGATCCATGAG 0.368000 45 63 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77286749 77286749 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:77286749G>A uc004aji.3 + 8 1238 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K RORB_uc004ajh.3_Missense_Mutation_p.E386K NM_006914 NP_008845 Q92753 RORB_HUMAN Homo sapiens RAR-related orphan receptor B (RORB), mRNA. 397 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 GAAGCTTCAGGAAAAAATTTA 0.448000 24 11 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146351039 146351039 + Missense_Mutation SNP C G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:146351039C>G uc010khw.1 + 1 856 c.386C>G c.(385-387)tCc>tGc p.S129C GRM1_uc010khu.1_Missense_Mutation_p.S129C|GRM1_uc010khv.1_Missense_Mutation_p.S129C|GRM1_uc003qll.2_Missense_Mutation_p.S129C|GRM1_uc011edz.1_Missense_Mutation_p.S129C|GRM1_uc011eea.1_Missense_Mutation_p.S129C NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 129 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TCTCTGATTTCCATTCGAGAT 0.582000 19 53 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24893010 24893010 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:24893010G>A uc001upj.3 + 2 282 c.221G>A c.(220-222)gGa>gAa p.G74E SPATA13_uc001upe.3_Non-coding_Transcript NM_178540 NP_848635 P0C862 C1T9A_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA. 74 Collagen-like 1. collagen hormone activity p.G74V(2) endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GGAGAGAAGGGAGAACGAGGT 0.453000 117 44 0 0 1 0 0 SPATA8 145946 broad.mit.edu 37 15 97328288 97328289 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:97328288_97328289CC>TT uc002bue.3 + 2 466_467 c.259_260CC>TT c.(259-261)cca>TTa p.P87L DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA. 87 p.S86T(1) large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) ATCTGCTTCCCCACTGATTCAG 0.446000 59 37 0 0 1 0 0 PDZK1 5174 broad.mit.edu 37 1 145761346 145761346 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:145761346G>A uc001eon.2 + 7 1316 c.1159G>A c.(1159-1161)Ggc>Agc p.G387S PDZK1_uc001eoo.2_Missense_Mutation_p.G387S|PDZK1_uc010oza.2_Missense_Mutation_p.G276S NM_002614 NP_002605 Q5T2W1 NHRF3_HUMAN Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 1, mRNA. 387 PDZ 4. carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport brush border membrane|cytoplasm PDZ domain binding|transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) AGGTGAAAATGGCTATGGCTT 0.473000 72 22 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858006 9858006 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:9858006G>A uc010uym.2 - 13 3705 c.3395C>T c.(3394-3396)cCa>cTa p.P1132L GRIN2A_uc002czo.4_Missense_Mutation_p.P1132L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P975L|GRIN2A_uc002czr.4_Missense_Mutation_p.P1132L NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1132 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.P1132L(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAACTGGGGTGGATCTAAGTG 0.532000 71 41 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142222460 142222461 + Silent DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:142222460_142222461GG>AA uc003ywd.1 - 6 2291_2292 c.1983_1984CC>TT c.(1981-1986)ttcctg>ttTTtg p.661_662FL>FL SLC45A4_uc003ywc.1_Silent_p.661_662FL>FL|SLC45A4_uc010meq.1_Silent_p.659_660FL>FL NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 712 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TAGATCACCAGGAATGTGGCCG 0.644000 27 5 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410126 159410126 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:159410126C>T uc010piv.2 + 0 615 c.578C>T c.(577-579)cCt>cTt p.P193L BC038194_uc001fts.4_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA. 193 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) GACATCCGCCCTGTGATGAAG 0.463000 84 107 0 0 1 0 0 GFRA3 2676 broad.mit.edu 37 5 137600087 137600087 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:137600087G>A uc003lcn.3 - 1 382 c.242C>T c.(241-243)tCg>tTg p.S81L GFRA3_uc003lco.3_Missense_Mutation_p.S81L NM_001496 NP_001487 O60609 GFRA3_HUMAN Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA. 81 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AGCAGGGACCGAAGGCTCCTC 0.602000 46 15 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083864 9083864 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:9083864G>A uc002mkp.3 - 0 8155 c.7951C>T c.(7951-7953)Cct>Tct p.P2651S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2651 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCAGTGAGAGGGATGGCTGGA 0.507000 21 14 0 0 1 0 0 D21847 0 broad.mit.edu 37 14 22090620 22090620 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:22090620C>T uc001wbi.2 + 1 272 c.259C>T c.(259-261)Cgt>Tgt p.R87C Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133. GGAGACAGGTCGTTTTTCTTC 0.478000 57 31 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24566965 24566965 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:24566965G>A uc011djo.2 - 13 2652 c.2152C>T c.(2152-2154)Cct>Tct p.P718S KIAA0319_uc011djp.2_Missense_Mutation_p.P673S|KIAA0319_uc003neh.1_Missense_Mutation_p.P718S|KIAA0319_uc011djq.1_Missense_Mutation_p.P709S|KIAA0319_uc011djr.1_Missense_Mutation_p.P718S|KIAA0319_uc010jpt.1_Missense_Mutation_p.P129S NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 718 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GCTCTGGGAGGACTATTATTT 0.383000 104 72 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433498 69433498 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:69433498C>T uc021xov.1 - 0 748 c.705G>A c.(703-705)caG>caA p.Q235Q NM_001077 NP_001068 O75795 UDB17_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA. 235 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 CACTATAAAACTGGTCCCACT 0.318000 20 46 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65541250 65541250 + Silent SNP G A A rs151327457 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:65541250G>A uc002sdr.4 - 5 1177 c.642C>T c.(640-642)atC>atT p.I214I SPRED2_uc010fcw.3_Silent_p.I211I NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA. 214 KBD. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding p.I214I(2) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 TGATGCGCACGATCTCCTCGT 0.622000 22 15 0 0 1 0 0 MIR1283-2 100302205 broad.mit.edu 37 19 54261553 54261553 + RNA SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:54261553G>A uc021vax.1 + 0 c.68G>A Homo sapiens microRNA 1283-2 (MIR1283-2), microRNA. GCTTCCCTTTGGAGTGTTACG 0.458000 35 27 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997013 82997013 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:82997013C>T uc003uhy.2 - 16 2838 c.2217G>A c.(2215-2217)agG>agA p.R739R SEMA3E_uc022agy.1_Silent_p.R679R NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 739 Arg/Lys-rich (basic). axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TAAGCTTTTTCCTCTTTCTAT 0.473000 62 39 0 0 1 0 0 C10orf113 387638 broad.mit.edu 37 10 21415039 21415039 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:21415039C>T uc001iqm.3 - 1 232 c.181G>A c.(181-183)Gaa>Aaa p.E61K NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Silent_p.Q72Q NM_001010896 NP_001010896 Q5VZT2 CJ113_HUMAN Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA. 61 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 GCTCTCCGTTCTGCCTTACCA 0.537000 58 25 0 0 1 0 0 EIF2C2 27161 broad.mit.edu 37 8 141583025 141583025 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:141583025G>A uc003yvn.3 - 2 263 c.222C>T c.(220-222)atC>atT p.I74I EIF2C2_uc010meo.3_Silent_p.I74I|EIF2C2_uc010men.3_5'UTR NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 74 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) TGTGTTCCACGATTTCCCTGA 0.408000 47 42 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119772 3119772 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:3119772C>T uc010vrc.2 + 0 858 c.858C>T c.(856-858)ttC>ttT p.F286F NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F286S(1)|p.P285S(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TAAATCCTTTCATCTACAGTC 0.473000 126 28 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151784321 151784321 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:151784321G>A uc003luv.2 - 0 520 c.354C>T c.(352-354)ggC>ggT p.G118G NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA. 118 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) TGAAGTAGCAGCCCACGGGCC 0.607000 85 37 0 0 1 0 0 RPS27 6232 broad.mit.edu 37 1 153963239 153963239 + Splice_Site SNP C G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:153963239C>G uc001fdv.3 + 1 1 c.-33_splice c.e1-1 NM_001030 NP_001021 P42677 RS27_HUMAN Homo sapiens ribosomal protein S27 (RPS27), mRNA. cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTTTCGCTCCTTTCCGGCGG 0.537000 46 74 0 0 1 0 0 BEND4 389206 broad.mit.edu 37 4 42119598 42119598 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:42119598G>A uc003gwn.3 - 5 2122 c.1542C>T c.(1540-1542)atC>atT p.I514I BEND4_uc003gwm.3_3'UTR NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA. 514 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 CCTGGTGATCGATCCCTTCAT 0.527000 14 23 0 0 1 0 0 CCDC148 130940 broad.mit.edu 37 2 159195525 159195525 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:159195525C>T uc002tzq.3 - 5 873 c.559G>A c.(559-561)Gat>Aat p.D187N CCDC148_uc002tzr.3_Missense_Mutation_p.D35N|CCDC148_uc010foh.3_Intron|CCDC148_uc010fok.2_Missense_Mutation_p.D101N|CCDC148_uc010foi.2_Missense_Mutation_p.D134N|CCDC148_uc010foj.2_Missense_Mutation_p.D35N|CCDC148_uc002tzs.2_Missense_Mutation_p.D187N NM_138803 NP_620158 Q8NFR7 CC148_HUMAN Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA. 187 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TCTGAAAGATCATTTTCTATT 0.308000 35 19 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451935 138451935 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:138451935G>A uc003ihe.4 - 0 1695 c.1308C>T c.(1306-1308)atC>atT p.I436I PCDH18_uc003ihf.4_Silent_p.I429I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.I216I|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 436 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGTCCTCAGCGATTACAGTCA 0.383000 97 39 0 0 1 0 0 MOGAT1 116255 broad.mit.edu 37 2 223559162 223559162 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:223559162G>A uc010fws.1 + 3 608 c.560G>A c.(559-561)gGg>gAg p.G187E MOGAT1_uc010fwt.1_Missense_Mutation_p.G147E NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA. 187 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) ATTGTCCTTGGGGGTGCAAAA 0.443000 26 17 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113543643 113543643 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:113543643C>T uc001tun.2 - 16 2010 c.1709G>A c.(1708-1710)cGa>cAa p.R570Q RASAL1_uc010syp.2_Missense_Mutation_p.R569Q|RASAL1_uc001tul.3_Missense_Mutation_p.R568Q|RASAL1_uc001tum.2_Missense_Mutation_p.R568Q|RASAL1_uc010syq.2_Missense_Mutation_p.R569Q|RASAL1_uc001tuo.4_Missense_Mutation_p.R569Q NM_001193520 NP_001180449 O95294 RASL1_HUMAN Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA. 568 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|metal ion binding|phospholipid binding p.G570V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 ATAGCCTTCTCGAACAATGGC 0.637000 45 16 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G A A rs7266938 by1000genomes TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:29625877G>A uc010ztl.1 + 1 63 c.31G>A c.(31-33)Gcc>Acc p.A11T FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.A41T(2)|p.T10T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 61 3 0 0 1 0 0 LOC646214 646214 broad.mit.edu 37 15 21937623 21937623 + RNA SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:21937623C>T uc010tzj.1 - 0 c.3117G>A Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. CATCGTCCTCCTCCTCTGTCA 0.498000 69 14 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395951 47395951 + Missense_Mutation SNP C T T rs140052682 by1000genomes TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:47395951C>T uc001cqp.4 - 11 1447 c.1396G>A c.(1396-1398)Gag>Aag p.E466K NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 466 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) ACCTTCAGCTCGTTCATGGCA 0.547000 132 40 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35250759 35250759 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:35250759C>T uc010edn.1 - 3 1335 c.947G>A c.(946-948)tGt>tAt p.C316Y ZNF599_uc010edm.2_Missense_Mutation_p.C279Y NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN Homo sapiens zinc finger protein 599 (ZNF599), mRNA. 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AGCTTTCCCACATTCTTTGCA 0.413000 31 22 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120911 38120911 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:38120911C>T uc003atr.3 + 6 2619 c.2348C>T c.(2347-2349)cCc>cTc p.P783L TRIOBP_uc003atu.3_Missense_Mutation_p.P611L|TRIOBP_uc003atq.1_Missense_Mutation_p.P783L|TRIOBP_uc003ats.1_Missense_Mutation_p.P611L NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 783 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.P783H(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ACCTCCTCTCCCAATAGAGCC 0.567000 49 26 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75099521 75099521 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:75099521C>T uc002snd.3 + 3 2396 c.470C>T c.(469-471)cCc>cTc p.P157L NM_000189 NP_000180 P52789 HXK2_HUMAN Homo sapiens hexokinase 2 (HK2), mRNA. 157 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 TTCTCGTTCCCCTGCCACCAG 0.512000 53 27 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41859614 41859614 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:41859614C>T uc001zof.2 + 6 1076 c.840C>T c.(838-840)ccC>ccT p.P280P NM_006293 NP_006284 Q06418 TYRO3_HUMAN Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA. 280 Fibronectin type-III 1. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTGTGCCCCCCTTTACCTGCC 0.607000 102 28 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842527 123842527 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:123842527C>T uc001lfv.3 + 3 872 c.512C>T c.(511-513)cCc>cTc p.P171L TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P171L|TACC2_uc010qtv.2_Missense_Mutation_p.P171L NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 171 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCTGCCGTCCCCAGTGCTGGA 0.592000 26 13 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039653 36039653 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:36039653G>A uc003jjz.2 - 4 1133 c.1001C>T c.(1000-1002)tCt>tTt p.S334F UGT3A2_uc011cos.2_Missense_Mutation_p.S300F|UGT3A2_uc011cot.2_Missense_Mutation_p.S32F NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 334 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGGCCAATGAGAACACTGACA 0.522000 192 31 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145442052 145442052 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:145442052C>T uc003lnt.3 + 9 2216 c.1978C>T c.(1978-1980)Ccc>Tcc p.P660S SH3RF2_uc011dbl.1_Missense_Mutation_p.P660S|SH3RF2_uc003lnu.3_Missense_Mutation_p.P151S|SH3RF2_uc011dbn.1_Missense_Mutation_p.P151S|SH3RF2_uc011dbo.2_Missense_Mutation_p.P117S NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 660 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACCTCCCATCCCACCTCCGG 0.557000 51 78 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134623944 134623944 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:134623944C>T uc021qbc.1 - 56 7734 c.7633G>A c.(7633-7635)Gaa>Aaa p.E2545K NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 706 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CACTCATCTTCTGAAGGAGAC 0.632000 49 31 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86801252 86801252 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:86801252G>A uc002blz.1 + 7 901 c.821G>A c.(820-822)gGg>gAg p.G274E NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 274 Asp-rich. C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ACTGAAGATGGGAAAGTGGAA 0.428000 63 33 0 0 1 0 0 SPATS2 65244 broad.mit.edu 37 12 49919798 49919798 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:49919798C>T uc001rud.2 + 13 2387 c.1398C>T c.(1396-1398)aaC>aaT p.N466N SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Silent_p.N466N|SPATS2_uc001ruf.2_Silent_p.N466N NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA. 466 cytoplasm breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4) 21 ACCCCATGAACCAAGGGCGGC 0.498000 41 20 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131196076 131196076 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:131196076C>T uc003vqw.4 - 1 475 c.217G>A c.(217-219)Gaa>Aaa p.E73K PODXL_uc003vqx.4_Missense_Mutation_p.E73K NM_001018111 NP_001018121 O00592 PODXL_HUMAN Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA. 73 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) GCCAAGATTTCGTTGGCCTTG 0.557000 43 28 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50452571 50452571 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:50452571G>A uc001rvv.3 + 1 251 c.22G>A c.(22-24)Gag>Aag p.E8K ASIC1_uc001rvw.3_Missense_Mutation_p.E8K|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_Missense_Mutation_p.E8K NM_020039 NP_064423 P78348 ACCN2_HUMAN Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA. 8 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GGCCGAGGAGGAGGAGGTGGG 0.617000 45 21 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234304 21234304 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:21234304C>T uc002red.3 - 25 5564 c.5436G>A c.(5434-5436)ggG>ggA p.G1812G NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1812 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) GCCGTAGTTTCCCATTGTTGG 0.403000 57 26 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15052928 15052928 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:15052928C>T uc010xoc.2 + 0 628 c.628C>T c.(628-630)Cct>Tct p.P210S NM_012377 NP_036509 O60412 OR7C2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) GGGTGTTTTTCCTCTCTGTGG 0.453000 40 14 0 0 1 0 0 ARMC12 221481 broad.mit.edu 37 6 35715184 35715184 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:35715184C>T uc003ola.3 + 3 699 c.672C>T c.(670-672)atC>atT p.I224I ARMC12_uc003olb.1_Silent_p.I197I NM_145028 NP_659465 Q5T9G4 CF081_HUMAN Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA. 197 binding TGATGGAGATCCTGCAGTCAG 0.592000 55 26 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 134981782 134981782 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:134981782C>T uc001llz.1 + 2 327 c.326C>T c.(325-327)cCc>cTc p.P109L KNDC1_uc001lma.1_Missense_Mutation_p.P44L NM_152643 NP_689856 Q76NI1 VKIND_HUMAN Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA. 109 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GCCTTCGTTCCCCCCGAGTTC 0.587000 77 36 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71036358 71036358 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:71036358G>A uc003tvy.3 + 5 1051 c.1051G>A c.(1051-1053)Gga>Aga p.G351R WBSCR17_uc003tvz.3_Missense_Mutation_p.G50R NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 351 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGATGTATACGGAGGAGAAAA 0.517000 59 36 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55224635 55224636 + RNA DNP CC TT TT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:55224635_55224636CC>TT uc002qgs.1 + 0 c.5035_5036CC>TT LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. AGAATCTCATCCGCGTGGCTGT 0.574000 27 16 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120293530 120293530 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:120293530C>T uc001eid.3 - 9 1509 c.1421_splice c.e9-1 p.V474_splice HMGCS2_uc010oxj.2_Splice_Site_p.V432_splice|HMGCS2_uc021osw.1_Splice_Site_p.V240_splice NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 474 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GGGAGAAATTCACTGTGGAAT 0.498000 27 8 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991690 39991690 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:39991690C>T uc002xjy.1 - 3 743 c.519G>A c.(517-519)agG>agA p.R173R NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 173 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CTGGGCCTTTCCTTCCTGGGA 0.577000 6 6 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101443558 101443558 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:101443558G>A uc003dvk.1 + 0 65 c.38G>A c.(37-39)gGa>gAa p.G13E CEP97_uc010hpm.1_Missense_Mutation_p.G13E|CEP97_uc011bhf.1_Missense_Mutation_p.G13E|CEP97_uc003dvl.1_5'Flank NM_024548 NP_078824 Q8IW35 CEP97_HUMAN Homo sapiens centrosomal protein 97kDa (CEP97), mRNA. 13 centrosome|nucleus protein binding p.P12P(1) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TTGCCTCCCGGAGAAGGTAAG 0.532000 34 33 0 0 1 0 0 SMURF2 64750 broad.mit.edu 37 17 62557655 62557655 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:62557655G>A uc002jep.1 - 11 1667 c.1279C>T c.(1279-1281)Cgt>Tgt p.R427C SMURF2_uc002jeq.1_Missense_Mutation_p.R186C|SMURF2_uc002jer.1_Missense_Mutation_p.R186C NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA. 427 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex SMAD binding|identical protein binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) TCTTCTCCACGAAATTTTATC 0.363000 25 18 0 0 1 0 0 CER1 9350 broad.mit.edu 37 9 14720306 14720306 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:14720306G>A uc003zlj.3 - 1 631 c.586C>T c.(586-588)Cct>Tct p.P196S NM_005454 NP_005445 O95813 CER1_HUMAN Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA. 196 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) GCGGCTCCAGGAAAATGAACA 0.483000 16 25 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109861728 109861728 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:109861728C>T uc021xqo.1 - 8 695 c.639G>A c.(637-639)ggG>ggA p.G213G COL25A1_uc003hze.1_Silent_p.G213G|COL25A1_uc021xqp.1_Silent_p.G213G|COL25A1_uc003hzg.3_Silent_p.G213G|COL25A1_uc003hzd.3_Intron|COL25A1_uc003hzf.3_5'UTR NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA. 213 Collagen-like 2. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGCCATCTTTCCCTGTGTCCC 0.582000 66 65 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32634315 32634315 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:32634315G>A uc003zrg.1 - 0 1353 c.1263C>T c.(1261-1263)ttC>ttT p.F421F AX747113_uc003zrh.1_Non-coding_Transcript NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 421 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCACCATCAGGAAGTTTTCGT 0.458000 137 301 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55212634 55212634 + Missense_Mutation SNP G A A rs34056887 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:55212634G>A uc003jql.3 + 14 2173 c.1981G>A c.(1981-1983)Gaa>Aaa p.E661K IL31RA_uc003jqm.3_Missense_Mutation_p.E642K|IL31RA_uc003jqn.3_Missense_Mutation_p.E661K|IL31RA_uc021xyq.1_Missense_Mutation_p.E642K|IL31RA_uc003jqo.3_Missense_Mutation_p.E519K NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 629 JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) AACGGGTCAGGAAAACAATTT 0.478000 47 31 0 0 1 0 0 STC1 6781 broad.mit.edu 37 8 23709835 23709835 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:23709835C>T uc003xdw.1 - 1 465 c.181G>A c.(181-183)Gaa>Aaa p.E61K NM_003155 NP_003146 P52823 STC1_HUMAN Homo sapiens stanniocalcin 1 (STC1), mRNA. 61 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity p.L60L(2) breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GTGGAGTTTTCCAGGCATGCA 0.473000 51 51 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144882800 144882800 + Silent SNP G A A rs140450543 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:144882800G>A uc021ouh.1 - 23 3521 c.3219C>T c.(3217-3219)atC>atT p.I1073I NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.I1073I|PDE4DIP_uc001elx.4_Silent_p.I1139I|PDE4DIP_uc001elv.4_Silent_p.I80I NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1073 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTCTTCCTCGATCTCCCATC 0.512000 T PDGFRB MPD 372 114 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179638516 179638516 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:179638516C>T uc010pnp.2 + 16 3355 c.2837C>T c.(2836-2838)tCc>tTc p.S946F TDRD5_uc021pfm.1_Missense_Mutation_p.S892F|TDRD5_uc001gnf.2_Missense_Mutation_p.S892F|TDRD5_uc021pfn.1_Missense_Mutation_p.S946F|TDRD5_uc001gnh.2_Missense_Mutation_p.S447F NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 892 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GTGGATGATTCCGCAGAAAAG 0.473000 110 37 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710933 14710933 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:14710933C>T uc010dzn.2 + 11 910 c.833C>T c.(832-834)gCc>gTc p.A278V CLEC17A_uc010dzo.2_Missense_Mutation_p.A278V|CLEC17A_uc002mzh.2_Missense_Mutation_p.A261V|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron NM_001204118 NP_001191047 Q6ZS10 CL17A_HUMAN Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA. 278 C-type lectin. cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity TGGGATGAGGCCCGGATGTTC 0.522000 34 16 0 0 1 0 0 FLAD1 80308 broad.mit.edu 37 1 154961016 154961016 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:154961016G>A uc001fgf.2 + 1 1209 c.808G>A c.(808-810)Gga>Aga p.G270R FLAD1_uc001fgc.3_Missense_Mutation_p.G171R|FLAD1_uc001fgd.2_Missense_Mutation_p.G270R|FLAD1_uc001fge.2_Missense_Mutation_p.G173R|FLAD1_uc001fgg.2_Missense_Mutation_p.G173R|FLAD1_uc021paj.1_Missense_Mutation_p.G171R|FLAD1_uc001fgh.1_Missense_Mutation_p.G3R NM_025207 NP_958800 Q8NFF5 FAD1_HUMAN Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA. 270 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGGATGAAGGGACTATTCCA 0.572000 22 37 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47514289 47514289 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:47514289G>A uc001cqt.3 + 9 1510 c.1260G>A c.(1258-1260)tgG>tgA p.W420* CYP4X1_uc001cqr.3_Nonsense_Mutation_p.W419*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.W355* NM_178033 NP_828847 Q8N118 CP4X1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA. 420 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CTGCTGTCTGGAAAAACCCAA 0.418000 123 52 0 0 1 0 0 USP18 11274 broad.mit.edu 37 22 18650086 18650086 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:18650086C>T uc002zny.3 + 4 803 c.465C>T c.(463-465)atC>atT p.I155I NM_017414 NP_059110 Q9UMW8 UBP18_HUMAN Homo sapiens ubiquitin specific peptidase 18 (USP18), mRNA. 155 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1) 10 AGGACCAGATCACTGATGTGC 0.473000 71 52 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28378135 28378135 + Splice_Site SNP G A A rs35119577 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:28378135G>A uc002het.3 + 9 1393 c.1201_splice c.e9-1 p.V401_splice EFCAB5_uc010wbi.1_Splice_Site_p.V144_splice|EFCAB5_uc010wbj.2_Splice_Site_p.V345_splice|EFCAB5_uc010wbk.2_Splice_Site_p.V58_splice|EFCAB5_uc010csd.3_Splice_Site|EFCAB5_uc010cse.3_Splice_Site_p.V280_splice|EFCAB5_uc010csf.3_Splice_Site_p.V280_splice NM_198529 NP_940931 A4FU69 EFCB5_HUMAN Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA. 401 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 TCTTTGCTTAGGTAGGGTTTT 0.393000 18 20 0 0 1 0 0 FRG2 448831 broad.mit.edu 37 4 190947577 190947577 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:190947577C>T uc011clh.2 - 2 349 c.296G>A c.(295-297)aGa>aAa p.R99K FRG2_uc003izv.3_Missense_Mutation_p.R98K NM_001005217 NP_001005217 Q64ET8 FRG2_HUMAN Homo sapiens FSHD region gene 2 (FRG2), mRNA. 98 nucleus large_intestine(1)|lung(3)|ovary(2)|skin(1) 7 all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513) all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155) ACTCATTTTTCTTTTCCTGCA 0.443000 41 14 0 0 1 0 0 AGPAT3 56894 broad.mit.edu 37 21 45379525 45379525 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:45379525C>T uc002zdx.3 + 3 889 c.224C>T c.(223-225)cCt>cTt p.P75L AGPAT3_uc002zdv.3_5'UTR|AGPAT3_uc002zdw.3_5'UTR|AGPAT3_uc002zdy.3_5'UTR NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA. 0 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) GACGGCTGTCCTCAGCGAGGG 0.667000 22 19 0 0 1 0 0 PPP2R2D 55844 broad.mit.edu 37 10 133769419 133769419 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:133769419C>T uc001lks.3 + 6 1216 c.1215C>T c.(1213-1215)gcC>gcT p.A405A PPP2R2D_uc001lkr.3_Silent_p.A211A|PPP2R2D_uc001lkt.3_Silent_p.A211A|PPP2R2D_uc009yay.3_Silent_p.A273A NM_018461 NP_060931 Q66LE6 2ABD_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, delta (PPP2R2D), transcript variant 1, mRNA. 438 cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) ATGTCATTGCCGTGGCTGCCA 0.507000 22 12 0 0 1 0 0 ZBED2 79413 broad.mit.edu 37 3 111312560 111312560 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:111312560C>T uc003dxy.3 - 1 1390 c.489G>A c.(487-489)agG>agA p.R163R CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Silent_p.R163R NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA. 163 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 CTGCCCTTTCCCTCCTAAGCA 0.602000 82 74 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131792714 131792714 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:131792714G>A uc003ytd.4 - 17 3934 c.3678C>T c.(3676-3678)aaC>aaT p.N1226N ADCY8_uc010mds.3_Silent_p.N1095N NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 1226 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AAGTCCGCCGGTTGTAATGAC 0.498000 HNSCC(32;0.087) 97 25 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48559827 48559827 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:48559827C>T uc003toq.2 + 52 14012 c.13988C>T c.(13987-13989)tCg>tTg p.S4663L ABCA13_uc010kys.1_Missense_Mutation_p.S1738L|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.S393L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 4663 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAACTGGCCTCGCAGGGCACA 0.512000 16 10 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31322709 31322709 + Missense_Mutation SNP G A A rs149695417 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:31322709G>A uc002hhs.1 + 1 392 c.317G>A c.(316-318)gGa>gAa p.G106E SPACA3_uc010cte.1_Non-coding_Transcript NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA. 106 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) GGGCTGGACGGATACCGGGGA 0.622000 26 9 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235706 3235706 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:3235706C>T uc004crg.4 - 5 6173 c.6016G>A c.(6016-6018)Gaa>Aaa p.E2006K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2006 Ig-like C2-type 4. extracellular region p.H2005H(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTCCGGTTTTCGTGCAGGGTG 0.622000 7 7 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122622429 122622429 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:122622429C>T uc021pzt.1 + 4 955 c.709C>T c.(709-711)Cct>Tct p.P237S WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN Homo sapiens WD repeat domain 11 (WDR11), mRNA. 237 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 TCAAGAGAAACCTAGGTAAGT 0.373000 40 17 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101576622 101576622 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:101576622G>A uc001thz.4 - 8 1514 c.1124C>T c.(1123-1125)tCg>tTg p.S375L NM_145913 NP_666018 Q8N695 SC5A8_HUMAN Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. 375 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity p.S375L(4) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTCTGAGAGCGATCTGAAGTA 0.368000 53 33 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27163025 27163025 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:27163025C>T uc002rhu.4 + 8 1232 c.1074C>T c.(1072-1074)atC>atT p.I358I DPYSL5_uc002rhv.4_Silent_p.I358I|DPYSL5_uc021vev.1_Silent_p.I358I NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA. 358 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGAGCGTCATCTGGGAGAGAG 0.532000 60 24 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031001 33031001 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:33031001G>A uc001rlj.4 - 2 928 c.813C>T c.(811-813)gtC>gtT p.V271V PKP2_uc001rlk.4_Silent_p.V271V|PKP2_uc010skj.2_Silent_p.V271V NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 271 cell-cell adhesion desmosome|integral to membrane|nucleus binding p.Q270Q(1) NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CCAGCGGCCTGACCTGCCCGA 0.662000 21 17 0 0 1 0 0 USPL1 10208 broad.mit.edu 37 13 31233414 31233414 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:31233414C>T uc001utc.2 + 8 3632 c.3200C>T c.(3199-3201)tCc>tTc p.S1067F USPL1_uc001utd.2_Missense_Mutation_p.S738F|USPL1_uc001ute.1_Missense_Mutation_p.S738F NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA. 1067 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) GAGTTTTTTTCCTCCTCAGCA 0.353000 72 26 0 0 1 0 0 RCAN2 10231 broad.mit.edu 37 6 46216633 46216633 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:46216633C>T uc003oyc.2 - 3 379 c.226_splice c.e3-1 p.E76_splice RCAN2_uc003oyb.2_Splice_Site_p.E30_splice|RCAN2_uc003oyd.2_Splice_Site_p.E76_splice NM_001251974 NP_001238903 Q14206 RCAN2_HUMAN Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA. 30 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding p.E30K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TCAAATTTTTCCTGATAAAAA 0.368000 36 14 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039768 248039768 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:248039768G>A uc001ido.3 + 5 1486 c.1438G>A c.(1438-1440)Gat>Aat p.D480N OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 480 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCCTGCTTCTGATGTAAGAGA 0.428000 27 34 0 0 1 0 0 MCMDC2 157777 broad.mit.edu 37 8 67803225 67803225 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:67803225C>T uc003xwz.4 + 9 1370 c.1199C>T c.(1198-1200)gCt>gTt p.A400V MCMDC2_uc011lev.2_Missense_Mutation_p.A400V|MCMDC2_uc011lew.2_Missense_Mutation_p.A331V|MCMDC2_uc011lex.2_Missense_Mutation_p.A158V|MCMDC2_uc003xwy.4_Missense_Mutation_p.A400V NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA. 400 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 GCTGGCAGTGCTTTGCTAGCT 0.398000 73 35 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158902549 158902549 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:158902549G>A uc003woh.3 - 2 399 c.213C>T c.(211-213)gtC>gtT p.V71V VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript NM_003382 NP_003373 P41587 VIPR2_HUMAN Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA. 71 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) AGGGCACCGTGACGGTCTCTC 0.572000 59 33 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32017225 32017225 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:32017225G>A uc003nzl.2 - 27 9775 c.9573C>T c.(9571-9573)ttC>ttT p.F3191F TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3238 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.F3258F(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGAAGGAGTCGAAGCGGCCCT 0.701000 78 47 0 0 1 0 0 RABGAP1 23637 broad.mit.edu 37 9 125760934 125760934 + Silent SNP T G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:125760934T>G uc011lzh.2 + 9 1397 c.1263T>G c.(1261-1263)ccT>ccG p.P421P RABGAP1_uc004bnl.4_Non-coding_Transcript NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA. 421 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 TACAGGAGCCTGTTCGATTTC 0.393000 94 47 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432228 140432228 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140432228C>T uc003lik.1 + 0 1250 c.1173C>T c.(1171-1173)ccC>ccT p.P391P NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 391 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGACCTTCCCTTTGTAATCA 0.473000 67 30 0 0 1 0 0 HNRNPK 3190 broad.mit.edu 37 9 86586839 86586839 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:86586839G>A uc004ang.4 - 10 1135 c.911C>T c.(910-912)gCt>gTt p.A304V HNRNPK_uc011lsw.2_Missense_Mutation_p.A64V|HNRNPK_uc004and.4_Missense_Mutation_p.A64V|HNRNPK_uc004anf.4_Missense_Mutation_p.A304V|HNRNPK_uc004anh.4_Missense_Mutation_p.A280V|HNRNPK_uc011lsx.2_Missense_Mutation_p.A280V|HNRNPK_uc004anl.4_Missense_Mutation_p.A304V|HNRNPK_uc004anm.4_Missense_Mutation_p.A304V|MIR7-1_uc004ano.1_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA. 304 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity). interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 AAGATTCCGAGCTCTGCTACC 0.522000 61 25 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9018509 9018509 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:9018509C>T uc002mkp.3 - 23 37869 c.37665G>A c.(37663-37665)ctG>ctA p.L12555L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12557 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTCATACTTCAGGTTGGTGA 0.512000 130 78 0 0 1 0 0 HM13 81502 broad.mit.edu 37 20 30154057 30154057 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:30154057C>T uc002wwc.3 + 10 1107 c.993C>T c.(991-993)gtC>gtT p.V331V HM13_uc002wwd.3_Silent_p.V331V|HM13_uc002wwe.3_Silent_p.V331V|HM13_uc002wwf.3_Silent_p.V207V NM_178581 NP_848696 Q8TCT9 HM13_HUMAN Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA. 331 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) GTTTTCCTGTCCTGGTGGCGC 0.622000 54 19 0 0 1 0 0 HAVCR1 26762 broad.mit.edu 37 5 156479510 156479510 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:156479510G>A uc010jij.1 - 3 720 c.535C>T c.(535-537)Ctg>Ttg p.L179L HAVCR1_uc011ddl.1_Silent_p.L10L|HAVCR1_uc003lwi.2_Silent_p.L179L|HAVCR1_uc021ygj.1_Silent_p.L179L|HAVCR1_uc021ygk.1_Silent_p.L10L|HAVCR1_uc011ddm.2_Silent_p.L179L NM_001099414 NP_036338 Q96D42 HAVR1_HUMAN Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA. 174 11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich. interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATTGTCGTCAGAACAGTCGTT 0.463000 354 351 0 0 1 0 0 SERPINF2 5345 broad.mit.edu 37 17 1657598 1657598 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:1657598C>T uc002ftk.1 + 9 1323 c.1246C>T c.(1246-1248)Ctc>Ttc p.L416F SERPINF2_uc010vqr.1_Missense_Mutation_p.L352F|SERPINF2_uc021tnm.1_Missense_Mutation_p.L416F NM_000934 NP_001159392 P08697 A2AP_HUMAN Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA. 416 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) CCGCCCCTTCCTCTTCTTCAT 0.652000 79 97 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898638 175898638 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:175898638G>A uc003iuc.3 + 4 2632 c.1962G>A c.(1960-1962)ctG>ctA p.L654L ADAM29_uc003iud.3_Silent_p.L654L|ADAM29_uc010irr.3_Silent_p.L654L|ADAM29_uc011cki.2_Silent_p.L654L|ADAM29_uc021xuo.1_Silent_p.L654L NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 654 EGF-like. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.L654L(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CCAACTGCCTGATAAAAGGCT 0.413000 34 31 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 295177 295177 + Silent SNP G A A rs148086983 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:295177G>A uc004cpg.3 - 12 1917 c.1653C>T c.(1651-1653)ttC>ttT p.F551F PPP2R3B_uc004cpf.3_Silent_p.F152F NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA. 551 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGGGCGCCTCGAAGAAGGGCC 0.711000 5 11 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118950331 118950332 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:118950331_118950332GG>AA uc004bjn.3 + 1 1695_1696 c.1314_1315GG>AA c.(1312-1317)ggggat>ggAAat p.D439N PAPPA_uc011lxp.1_Missense_Mutation_p.D232N|PAPPA_uc011lxq.2_Missense_Mutation_p.D232N NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 439 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACGACGGCGGGGATTGCCGCCA 0.594000 19 13 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63477014 63477014 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:63477014C>T uc002lkb.3 + 2 711 c.285C>T c.(283-285)ttC>ttT p.F95F CDH7_uc002ljz.3_Silent_p.F95F|CDH7_uc002lka.3_Silent_p.F95F NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 95 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GTTCCATTTTCATTATTGATG 0.468000 93 19 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4929233 4929233 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:4929233C>T uc010qyq.2 + 0 634 c.634C>T c.(634-636)Ctg>Ttg p.L212L NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGACTTGGCACTGATTGTTTT 0.453000 66 40 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54492258 54492258 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:54492258G>A uc004dtg.3 - 6 2102 c.1368C>T c.(1366-1368)atC>atT p.I456I FGD1_uc011moi.1_Silent_p.I214I NM_004463 NP_004454 P98174 FGD1_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA. 456 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GTTTCTGCAGGATGTCTCCAA 0.567000 8 19 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153284108 153284108 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:153284108C>T uc004fjs.1 - 4 750 c.671G>A c.(670-672)gGg>gAg p.G224E IRAK1_uc004fjr.1_Missense_Mutation_p.G224E|IRAK1_uc004fjt.1_Missense_Mutation_p.G224E|IRAK1_uc004fju.2_Missense_Mutation_p.G250E NM_001569 NP_001560 P51617 IRAK1_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA. 224 Protein kinase. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTACACGCACCCAAAGCCACC 0.622000 25 71 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811776 23811776 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:23811776G>A uc001ywh.4 + 0 1323 c.847G>A c.(847-849)Gaa>Aaa p.E283K MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.E283K NM_005664 NP_005655 Q13064 MKRN3_HUMAN Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA. 283 Makorin-type Cys-His. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TGCCCAGAGGGAAGAACATAT 0.532000 22 11 0 0 1 0 0 ANGPT2 285 broad.mit.edu 37 8 6378862 6378862 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:6378862C>T uc003wqj.4 - 3 965 c.636G>A c.(634-636)gaG>gaA p.E212E MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Silent_p.E212E|ANGPT2_uc010lri.3_Silent_p.E160E|ANGPT2_uc003wql.4_Silent_p.E212E NM_001147 NP_001138 O15123 ANGP2_HUMAN Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA. 212 Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GCTGATCTTTCTCTTCTTTTA 0.353000 56 12 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164271851 164271851 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:164271851G>A uc003iqn.3 + 3 608 c.426G>A c.(424-426)atG>atA p.M142I NPY5R_uc021xtw.1_Missense_Mutation_p.M142I NM_006174 NP_006165 Q15761 NPY5R_HUMAN Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA. 142 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) GGTATCATATGATAAAACATC 0.363000 170 44 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141970 133141970 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:133141970G>A uc003ytj.3 - 14 2383 c.2158C>T c.(2158-2160)Ctg>Ttg p.L720L KCNQ3_uc003yti.3_Silent_p.L600L|KCNQ3_uc010mdt.3_Silent_p.L708L NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 720 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCTCGGGGCAGGTTCACAGGG 0.562000 30 29 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64488725 64488725 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:64488725C>T uc001xgl.3 + 36 5733 c.5503C>T c.(5503-5505)Cac>Tac p.H1835Y SYNE2_uc001xgm.3_Missense_Mutation_p.H1835Y|SYNE2_uc021ruh.1_Missense_Mutation_p.H1835Y NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 1835 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTTGCAAGATCACTTTTCTAA 0.323000 48 21 0 0 1 0 0 MYO6 4646 broad.mit.edu 37 6 76623860 76623861 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:76623860_76623861CC>TT uc003pih.1 + 33 3799_3800 c.3520_3521CC>TT c.(3520-3522)cca>TTa p.P1174L MYO6_uc003pii.1_Missense_Mutation_p.P1151L|MYO6_uc003pij.1_Missense_Mutation_p.P122L NM_004999 NP_004990 Q9UM54 MYO6_HUMAN Homo sapiens myosin VI (MYO6), mRNA. 1183 DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) CTTCCGCATCCCATTCATCCGC 0.510000 38 92 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27751729 27751729 + Missense_Mutation SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:27751729T>C uc002dow.3 + 14 2135 c.2111T>C c.(2110-2112)gTc>gCc p.V704A NM_015202 NP_056017 O60303 K0556_HUMAN Homo sapiens KIAA0556 (KIAA0556), mRNA. 704 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CTGTCGGCAGTCCCCACTTCG 0.493000 64 32 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100459389 100459389 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:100459389C>T uc003uwp.3 + 11 1709 c.1567C>T c.(1567-1569)Cgg>Tgg p.R523W SLC12A9_uc003uwq.3_Missense_Mutation_p.R434W|SLC12A9_uc011kki.2_Missense_Mutation_p.R54W|SLC12A9_uc003uwr.3_Missense_Mutation_p.R259W|SLC12A9_uc003uws.3_Missense_Mutation_p.R54W|SLC12A9_uc003uwt.3_Missense_Mutation_p.R259W|SLC12A9_uc003uwv.3_Missense_Mutation_p.R54W NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA. 523 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) GCTGGACGTCCGGAAGGATCA 0.632000 77 37 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51189596 51189596 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:51189596G>A uc002psx.1 - 19 2494 c.2475C>T c.(2473-2475)atC>atT p.I825I SHANK1_uc002psw.1_Silent_p.I209I NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 825 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CTGCGGCCAGGATTTCGTCCA 0.562000 47 29 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111948322 111948322 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:111948322G>A uc001tsj.3 - 11 2265 c.2103C>T c.(2101-2103)acC>acT p.T701T ATXN2_uc001tsh.3_Silent_p.T436T|ATXN2_uc001tsi.3_Silent_p.T412T|ATXN2_uc001tsk.3_Non-coding_Transcript NM_002973 NP_002964 Q99700 ATX2_HUMAN Homo sapiens ataxin 2 (ATXN2), mRNA. 701 Pro-rich. RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network RNA binding|protein C-terminus binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 GCCCACTGGGGGTATTTCCAA 0.458000 197 90 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219886908 219886908 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:219886908G>A uc002vjl.1 - 16 3048 c.2964C>T c.(2962-2964)ctC>ctT p.L988L CCDC108_uc002vjm.3_5'Flank NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 988 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCTGCTGGTGAGCCCAACGC 0.677000 4 4 0 0 1 0 0 OR8G1 26494 broad.mit.edu 37 11 124120449 124120449 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:124120449G>A uc001pzx.3 + 0 27 c.27G>A c.(25-27)gtG>gtA p.V9V NM_001002905 NP_001002905 Q15617 OR8G1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA. 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174) ATTCCTCAGTGACTGAGTTCA 0.478000 6 15 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45672209 45672209 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:45672209G>A uc021qgn.1 - 0 265 c.265C>T c.(265-267)Ctg>Ttg p.L89L CHST1_uc001mys.2_Silent_p.L89L NM_003654 NP_003645 O43916 CHST1_HUMAN Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA. 89 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGCTCAAACAGGTAGAAGACG 0.652000 55 20 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194061912 194061912 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:194061912G>A uc003fts.3 - 1 1610 c.1520C>T c.(1519-1521)tCt>tTt p.S507F CPN2_uc021xix.1_Missense_Mutation_p.S507F NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 507 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CTGCTGAGGAGAGAGCTGGAC 0.642000 13 19 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42817404 42817404 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:42817404C>T uc010goq.3 + 9 1384 c.1038C>T c.(1036-1038)atC>atT p.I346I MX1_uc002yzh.3_Silent_p.I346I|MX1_uc002yzi.3_Silent_p.I346I NM_001178046 NP_002453 P20591 MX1_HUMAN Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA. 346 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) AAAATCAAATCAAGGAGACTC 0.408000 47 30 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3628742 3628742 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:3628742C>T uc002fwp.3 + 0 1546 c.1513C>T c.(1513-1515)Cac>Tac p.H505Y ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank NM_031965 NP_114171 Q8TF76 HASP_HUMAN Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA. 505 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity AATTGCTGATCACACACCCGT 0.448000 86 35 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189012615 189012615 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:189012615G>A uc011cle.1 - 7 1523 c.1301C>T c.(1300-1302)tCc>tTc p.S434F TRIML2_uc003izj.1_Missense_Mutation_p.S187F|TRIML2_uc003izk.1_Missense_Mutation_p.S167F|TRIML2_uc003izl.2_Missense_Mutation_p.S359F NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 359 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GATACAGAGGGAAAACACAGG 0.473000 105 32 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994858 143994858 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:143994858G>A uc003yxk.1 - 5 967 c.964C>T c.(964-966)Ccc>Tcc p.P322S NM_000498 NP_000489 P19099 C11B2_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA. 322 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity p.P322T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) ATCAGCAAGGGAAACGCTGTC 0.632000 Familial Hyperaldosteronism type I 76 25 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138425364 138425364 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:138425364G>A uc002tva.1 + 25 4582 c.4582G>A c.(4582-4584)Gtt>Att p.V1528I NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AAAAATTTGGGTTTATGGCGT 0.363000 4 2 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875734 247875734 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:247875734G>A uc001idj.1 - 0 324 c.324C>T c.(322-324)ggC>ggT p.G108G NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G108C(1) breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ACTCTGTGCAGCCTAATGAGA 0.498000 70 25 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142651043 142651043 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142651043C>T uc003wcb.3 - 9 1135 c.925_splice c.e9-1 p.E309_splice NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 309 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GGGGCCATTTCCTTAGAGGAG 0.537000 26 15 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321533 79321533 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:79321533G>A uc010mpk.3 - 7 5781 c.5657C>T c.(5656-5658)cCt>cTt p.P1886L PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.P1708L NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 1886 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GTCACTAAAAGGATTAGTATA 0.473000 15 6 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117079532 117079532 + Silent SNP G A A rs142579121 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:117079532G>A uc011mtp.2 - 2 247 c.114C>T c.(112-114)ctC>ctT p.L38L KLHL13_uc004eqk.3_5'UTR|KLHL13_uc004eql.3_Silent_p.L35L|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Silent_p.L29L|KLHL13_uc011mtq.2_Silent_p.L19L|KLHL13_uc004eqm.3_5'UTR|KLHL13_uc022cde.1_Silent_p.L19L NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 35 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CCTCTTCCACGAGAGATCTGA 0.388000 5 11 0 0 1 0 0 SSR1 6745 broad.mit.edu 37 6 7301714 7301714 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:7301714G>A uc003mxf.4 - 3 560 c.372C>T c.(370-372)ttC>ttT p.F124F NM_003144 NP_003135 P43307 SSRA_HUMAN Homo sapiens signal sequence receptor, alpha (SSR1), mRNA. 124 cotranslational protein targeting to membrane|positive regulation of cell proliferation endoplasmic reticulum membrane|integral to membrane signal sequence binding NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) GAGGATAACGGAATGAGGCAT 0.413000 62 56 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121243857 121243857 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:121243857G>A uc003yox.3 + 19 2614 c.2349_splice c.e19+1 p.T783_splice COL14A1_uc003yoy.3_Splice_Site_p.T461_splice NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 783 Fibronectin type-III 6. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCATAGGAACGGTCTGTATAA 0.448000 14 19 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89835919 89835919 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:89835919G>A uc010bnp.1 + 21 2083 c.1993_splice c.e21-1 p.D665_splice FANCI_uc002bnm.1_Splice_Site_p.D665_splice|FANCI_uc002bnn.1_Splice_Site|FANCI_uc002bnp.1_Splice_Site_p.D486_splice|FANCI_uc002bnq.1_Splice_Site_p.D78_splice NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA. 665 DNA repair|cell cycle nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TCTCCTACAGGATTATCTGCT 0.368000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 44 19 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198665840 198665840 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:198665840G>A uc001gur.1 + 4 275 c.95_splice c.e4-1 p.G32_splice PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Splice_Site_p.G34_splice|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Splice_Site_p.R75_splice|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 32 B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TTAATTAACAGGATTGACTAC 0.418000 92 18 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1369239 1369239 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:1369239C>T uc003gde.4 + 8 1823 c.1376C>T c.(1375-1377)tCt>tTt p.S459F UVSSA_uc010ibv.3_Missense_Mutation_p.S10F NM_020894 NP_065945 Q2YD98 K1530_HUMAN Homo sapiens KIAA1530 (KIAA1530), mRNA. 459 GACCCCACCTCTGCGGCTGCT 0.652000 85 36 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97887546 97887546 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:97887546G>A uc011bgu.2 + 0 3 c.3G>A c.(1-3)atG>atA p.M1I NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 GTGAGGACATGGAAGAGGAAA 0.363000 58 36 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64421686 64421686 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:64421686C>T uc003pep.1 + 14 4227 c.4202C>T c.(4201-4203)tCt>tTt p.S1401F PHF3_uc003pen.2_Missense_Mutation_p.S1313F|PHF3_uc011dxs.1_Missense_Mutation_p.S670F NM_015153 NP_055968 Q92576 PHF3_HUMAN Homo sapiens PHD finger protein 3 (PHF3), mRNA. 1401 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding p.N1400fs*1(1) breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TTTTTTAATTCTTTTACAACT 0.373000 65 46 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681122 100681122 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:100681122C>T uc003uxp.1 + 2 6478 c.6425C>T c.(6424-6426)tCt>tTt p.S2142F MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2142 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGTTCATCTCCTATACCT 0.498000 181 102 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24193032 24193032 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:24193032C>T uc003xdy.3 + 13 1528 c.1445C>T c.(1444-1446)tCt>tTt p.S482F ADAM28_uc003xdx.3_Missense_Mutation_p.S482F|ADAM28_uc011kzz.2_Missense_Mutation_p.S249F|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.S169F NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 482 Disintegrin. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.S482F(2) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AATGGTAAATCTGGTAATTGT 0.473000 31 23 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34971592 34971592 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:34971592C>T uc003zvq.3 + 1 475 c.297C>T c.(295-297)ttC>ttT p.F99F KIAA1045_uc003zvr.3_Silent_p.F99F NM_015297 NP_056112 Q9UPV7 K1045_HUMAN Homo sapiens KIAA1045 (KIAA1045), mRNA. 99 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) CAAGTCGATTCACACCCCCTG 0.622000 172 97 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241641 3241641 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:3241641G>A uc004crg.4 - 4 2242 c.2085C>T c.(2083-2085)atC>atT p.I695I NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 695 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CATCCTCCACGATGTCTTCTC 0.517000 8 30 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170558 113170558 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:113170558G>A uc010mtz.3 - 37 7659 c.7322C>T c.(7321-7323)cCc>cTc p.P2441L SVEP1_uc010mty.3_Missense_Mutation_p.P367L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2441 Sushi 18. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTCAGGTTGGGGACATTCTAC 0.502000 27 10 0 0 1 0 0 CLDN1 9076 broad.mit.edu 37 3 190030809 190030809 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:190030809G>A uc003fsh.3 - 1 480 c.240C>T c.(238-240)acC>acT p.T80T NM_021101 NP_066924 O95832 CLD1_HUMAN Homo sapiens claudin 1 (CLDN1), mRNA. 80 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TCAAGGCACGGGTTGCTTGCA 0.448000 212 61 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167250754 167250754 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:167250754C>T uc003fev.1 - 7 1214 c.910G>A c.(910-912)Gga>Aga p.G304R WDR49_uc003feu.1_Missense_Mutation_p.G129R|WDR49_uc011bpd.1_Missense_Mutation_p.G368R|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 304 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 ACAATTTCTCCATCATAACTC 0.373000 22 28 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100365543 100365543 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:100365543G>A uc003uwj.3 + 25 5115 c.4950G>A c.(4948-4950)acG>acA p.T1650T ZAN_uc003uwk.3_Silent_p.T1650T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.T227T NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 1650 VWFD 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TCCTCTACACGAACTTTGGGC 0.602000 21 16 0 0 1 0 0 ERF 2077 broad.mit.edu 37 19 42754644 42754644 + Missense_Mutation SNP A C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:42754644A>C uc002ote.4 - 1 254 c.96T>G c.(94-96)ttT>ttG p.F32L ERF_uc002otd.4_5'UTR NM_006494 NP_006485 P50548 ERF_HUMAN Homo sapiens Ets2 repressor factor (ERF), mRNA. 32 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GCTCCAGGATAAAGTGCCACA 0.627000 35 19 0 0 1 0 0 PGS1 9489 broad.mit.edu 37 17 76411014 76411014 + Missense_Mutation SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:76411014C>A uc002jvm.3 + 7 1469 c.1457C>A c.(1456-1458)tCt>tAt p.S486Y PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Missense_Mutation_p.S199Y|PGS1_uc002jvo.3_Intron|PGS1_uc002jvp.1_Missense_Mutation_p.S199Y NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA. 486 PLD phosphodiesterase 2. phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) CTGATTGGCTCTCCTAATTTT 0.587000 35 50 1.72845e-40 1.75135e-40 1 1 0 SPEM1 374768 broad.mit.edu 37 17 7324917 7324917 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:7324917G>A uc002ggv.3 + 2 948 c.923G>A c.(922-924)gGg>gAg p.G308E SPEM1_uc010vtw.1_Missense_Mutation_p.G42E NM_199339 NP_955371 Q8N4L4 SPEM1_HUMAN Homo sapiens spermatid maturation 1 (SPEM1), mRNA. 308 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) TCCCTAACTGGGAGGTGACTG 0.582000 22 11 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435516 5435516 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:5435516C>T uc001ihy.3 - 3 1343 c.1305G>A c.(1303-1305)ctG>ctA p.L435L TUBAL3_uc001ihz.3_Silent_p.L395L NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA. 435 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 AGTCCCTCTCCAGGGCTGCCA 0.478000 41 19 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727670 20727670 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:20727670G>A uc002npa.3 - 3 1519 c.1339C>T c.(1339-1341)Cat>Tat p.H447Y NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN Homo sapiens zinc finger protein 737 (ZNF737), mRNA. 447 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TCTCCAGTATGAATTCTCTTA 0.413000 48 18 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96466555 96466555 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:96466555C>T uc001kjv.4 + 4 983 c.657C>T c.(655-657)ttC>ttT p.F219F CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 219 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GCAATAATTTCCCTGCTCTCA 0.299000 12 9 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42331501 42331501 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:42331501C>T uc002xlb.1 + 7 1538 c.1323C>T c.(1321-1323)ccC>ccT p.P441P MYBL2_uc010zwj.1_Silent_p.P417P NM_002466 NP_002457 P10244 MYBB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA. 441 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GCCTCACGCCCAAGAGCACAC 0.582000 89 24 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183454513 183454513 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:183454513C>T uc003fly.2 + 7 1015 c.820C>T c.(820-822)Cct>Tct p.P274S NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 274 YEATS. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TAGAGAGCCTCCTTTTCACCT 0.408000 40 46 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190067802 190067802 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:190067802C>T uc001gse.1 - 7 1879 c.1647G>A c.(1645-1647)atG>atA p.M549I FAM5C_uc010pot.1_Missense_Mutation_p.M447I NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 549 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GACCCAAAATCATATGGACCA 0.473000 66 20 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18061077 18061077 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:18061077C>T uc021trm.1 + 49 9049 c.8830C>T c.(8830-8832)Cct>Tct p.P2944S MYO15A_uc021trl.1_Missense_Mutation_p.P2942S|MYO15A_uc010vxi.2_Missense_Mutation_p.P208S|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_5'UTR|MYO15A_uc002gsl.3_5'Flank|MYO15A_uc010vxm.2_5'Flank|MYO15A_uc002gsm.1_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 2944 SH3.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGGCCGCTTCCCTTCGGAGCT 0.687000 34 35 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13920635 13920635 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:13920635C>T uc003jfd.2 - 5 794 c.752G>A c.(751-753)gGa>gAa p.G251E DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 251 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTCTATTTTTCCCAAAGTCTC 0.393000 Kartagener syndrome 123 73 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49046862 49046862 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:49046862C>T uc003gyv.3 + 13 2045 c.1863C>T c.(1861-1863)atC>atT p.I621I CWH43_uc011bzl.2_Silent_p.I594I NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 621 Required for function in lipid remodeling (By similarity). GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GAGGGCTGATCAGGTGAGCAC 0.353000 103 28 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32745691 32745691 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:32745691C>T uc001bux.3 + 11 1345 c.1207C>T c.(1207-1209)Ccc>Tcc p.P403S LCK_uc001buy.3_Missense_Mutation_p.P403S|LCK_uc001buz.3_Missense_Mutation_p.P433S|LCK_uc010ohc.1_Missense_Mutation_p.P447S|LCK_uc001bva.3_Missense_Mutation_p.P410S NM_005356 NP_005347 P06239 LCK_HUMAN Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA. 403 Protein kinase. T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity p.P403S(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GGCCAAGTTTCCCATTAAGTG 0.547000 T TRB@ T-ALL 17 27 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183050720 183050720 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:183050720G>A uc002uos.3 - 13 1547 c.1463C>T c.(1462-1464)cCa>cTa p.P488L PDE1A_uc010zfp.1_Missense_Mutation_p.P384L|PDE1A_uc002uoq.1_Missense_Mutation_p.P488L|PDE1A_uc010zfq.1_Missense_Mutation_p.P488L|PDE1A_uc002uor.3_Missense_Mutation_p.P472L|PDE1A_uc002uou.3_Missense_Mutation_p.P454L NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 488 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) GGAGTAGTCTGGGGAATAGGA 0.463000 27 13 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872159 51872159 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:51872159C>T uc002xwo.3 + 1 3049 c.2162C>T c.(2161-2163)cCa>cTa p.P721L TSHZ2_uc021wex.1_Missense_Mutation_p.P718L NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 721 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGCTCCAGCCCAAGTTCAAGC 0.572000 39 41 0 0 1 0 0 STAU1 6780 broad.mit.edu 37 20 47734556 47734556 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:47734556C>T uc002xud.3 - 10 1678 c.1267G>A c.(1267-1269)Gag>Aag p.E423K STAU1_uc002xua.3_Missense_Mutation_p.E342K|STAU1_uc002xub.3_Missense_Mutation_p.E348K|STAU1_uc002xuc.3_Missense_Mutation_p.E342K|STAU1_uc002xue.3_Missense_Mutation_p.E342K|STAU1_uc002xuf.3_Missense_Mutation_p.E348K|STAU1_uc002xug.3_Missense_Mutation_p.E423K NM_017453 NP_059348 O95793 STAU1_HUMAN Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA. 423 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TGGGCGACCTCGGGCACCATG 0.517000 121 49 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23518256 23518256 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:23518256G>A uc001wil.3 - 11 2200 c.1940C>T c.(1939-1941)aCc>aTc p.T647I CDH24_uc010akf.3_Missense_Mutation_p.T609I NM_022478 NP_071923 Q86UP0 CAD24_HUMAN Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA. 647 adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) ACCCACACAGGTGATGATGGC 0.642000 38 6 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12819292 12819292 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:12819292G>A uc002gnr.4 + 4 678 c.351G>A c.(349-351)gaG>gaA p.E117E ARHGAP44_uc010vvk.2_Silent_p.E117E|ARHGAP44_uc010vvl.2_Silent_p.E117E|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Silent_p.E117E|ARHGAP44_uc010vvn.2_Non-coding_Transcript NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 117 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TGCAAGTAGAGAGAGACGTGA 0.517000 34 10 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110807629 110807629 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:110807629C>T uc001vqw.4 - 50 4877 c.4755_splice c.e50+1 p.M1585_splice NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1585 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAGACACTTACCATCACAAAA 0.607000 18 19 0 0 1 0 0 HMG20A 10363 broad.mit.edu 37 15 77756589 77756589 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:77756589C>T uc002bcr.3 + 3 298 c.97C>T c.(97-99)Cac>Tac p.H33Y HMG20A_uc002bcq.1_Missense_Mutation_p.H33Y|HMG20A_uc002bcs.3_Missense_Mutation_p.H33Y NM_018200 NP_060670 Q9NP66 HM20A_HUMAN Homo sapiens high mobility group 20A (HMG20A), mRNA. 33 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 CAGGTTAAATCACCCAGAGGT 0.433000 34 18 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2661599 2661599 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:2661599C>T uc010ick.3 + 8 1291 c.1290C>T c.(1288-1290)ccC>ccT p.P430P FAM193A_uc003gfd.3_Silent_p.P230P|FAM193A_uc011bvm.2_Silent_p.P254P|FAM193A_uc011bvn.2_Silent_p.P230P|FAM193A_uc010icl.3_Silent_p.P230P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.P84P NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 230 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TGGACCCCCCCGTCACTGATG 0.527000 159 52 0 0 1 0 0 FAM5B 57795 broad.mit.edu 37 1 177250589 177250589 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:177250589C>T uc001glf.3 + 7 2589 c.2277C>T c.(2275-2277)atC>atT p.I759I FAM5B_uc001glg.3_Silent_p.I654I NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 759 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TGGGCAGGATCCAGTCCTCCC 0.557000 41 52 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89349805 89349805 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:89349805C>T uc002fmx.1 - 8 3606 c.3145G>A c.(3145-3147)Gac>Aac p.D1049N ANKRD11_uc002fmy.1_Missense_Mutation_p.D1049N|ANKRD11_uc002fnc.1_Missense_Mutation_p.D1049N|ANKRD11_uc002fnb.1_Missense_Mutation_p.D1006N NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 1049 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AATTCTTTGTCCTTCTGACAT 0.358000 50 30 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16337512 16337512 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:16337512G>A uc021whl.1 - 0 3002 c.3002C>T c.(3001-3003)tCa>tTa p.S1001L NRIP1_uc002yjx.2_Missense_Mutation_p.S1001L NM_003489 NP_003480 P48552 NRIP1_HUMAN Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA. 1001 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) ACCTGGGTATGAAAATGTCCT 0.453000 20 4 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212851 26212851 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:26212851C>T uc022buc.1 + 0 888 c.888C>T c.(886-888)ttC>ttT p.F296F MAGEB6_uc004dbr.3_Silent_p.F296F NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 296 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TTGTGATCTTCATGAACGGCA 0.537000 27 71 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10401153 10401153 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:10401153C>T uc002gmo.3 - 30 4357 c.4263G>A c.(4261-4263)acG>acA p.T1421T AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1421 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCCTCTGCTTCGTCTTCTCAA 0.473000 72 25 0 0 1 0 0 COMMD3-BMI1 100532731 broad.mit.edu 37 10 22607905 22607905 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:22607905C>T uc009xkg.3 + 4 403 c.368C>T c.(367-369)cCt>cTt p.P123L COMMD3-BMI1_uc001irf.3_Silent_p.S162S|COMMD3-BMI1_uc001irh.3_5'Flank NM_001204062 NP_001190991 P35226 BMI1_HUMAN Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA. 0 hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding ATTCCCCATCCTATCCAGAGA 0.313000 48 21 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142457338 142457338 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142457338G>A uc003wak.2 + 0 20 c.3G>A c.(1-3)atG>atA p.M1I TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.M1I|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 1 digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CTACCACCATGAATCCACTCC 0.577000 91 40 0 0 1 0 0 CECR6 27439 broad.mit.edu 37 22 17600953 17600953 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:17600953G>A uc002zmb.2 - 0 1261 c.1065C>T c.(1063-1065)acC>acT p.T355T CECR6_uc002zma.2_5'UTR|BC021738_uc002zmc.3_5'Flank NM_031890 NP_114096 Q9BXQ6 CECR6_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA. 355 haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) ACAGCGCCATGGTGAGACGGA 0.692000 30 17 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14737460 14737460 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:14737460C>T uc003zlm.3 - 37 7290 c.6474G>A c.(6472-6474)ggG>ggA p.G2158G FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Silent_p.G694G NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 2158 C-type lectin. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTTGCCATTTCCCTTGTCTTT 0.473000 6 14 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29102112 29102112 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:29102112C>T uc002kwu.4 + 5 778 c.590C>T c.(589-591)tCc>tTc p.S197F NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 197 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TCGAAAATTTCCTATAGAATC 0.378000 26 18 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37720449 37720449 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:37720449G>A uc003xkm.2 - 5 3872 c.3816C>T c.(3814-3816)atC>atT p.I1272I RAB11FIP1_uc003xkn.2_Silent_p.I638I|RAB11FIP1_uc003xkl.2_Silent_p.I601I NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 1272 FIP-RBD.|Necessary for interaction with RAB4A and RAB11A, subcellular location and endosomal recycling. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CCTGAGTCGGGATGCGGAGGA 0.483000 61 61 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27288404 27288404 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:27288404C>T uc003xfn.2 + 12 1489 c.681C>T c.(679-681)ttC>ttT p.F227F PTK2B_uc022ate.1_Silent_p.F227F|PTK2B_uc003xfp.2_Silent_p.F227F|PTK2B_uc003xfq.2_Silent_p.F227F|PTK2B_uc010luq.1_5'UTR|PTK2B_uc003xfr.1_5'Flank NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 227 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CCAAACAGTTCCGGAAGATGA 0.602000 55 62 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716477 142716477 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:142716477C>T uc022cfm.1 - 0 2448 c.2448G>A c.(2446-2448)gcG>gcA p.A816A SLITRK4_uc022cfl.1_Silent_p.A816A|SLITRK4_uc004fbx.3_Silent_p.A816A|SLITRK4_uc004fby.3_Silent_p.A816A NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA. 816 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TCTGCAGTTTCGCCTTCAGTT 0.398000 8 24 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40662400 40662400 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:40662400G>A uc011aor.2 + 4 2377 c.2166G>A c.(2164-2166)tgG>tgA p.W722* TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Nonsense_Mutation_p.W722*|TNRC6B_uc003ayo.3_Nonsense_Mutation_p.W526* NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 722 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 CTTCCTCTTGGAATGAGAATC 0.527000 14 11 0 0 1 0 0 DBC1 1620 broad.mit.edu 37 9 121929669 121929669 + Missense_Mutation SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:121929669T>C uc004bkc.2 - 7 2435 c.1979A>G c.(1978-1980)tAt>tGt p.Y660C NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 660 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CCTCAGGCTATACCCAAACAC 0.572000 108 62 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117199609 117199609 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:117199609C>T uc003vjd.3 + 10 1616 c.1484C>T c.(1483-1485)tCc>tTc p.S495F CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 495 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TCTCAGTTTTCCTGGATTATG 0.383000 Cystic Fibrosis 46 25 0 0 1 0 0 TUBA8 51807 broad.mit.edu 37 22 18609535 18609535 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:18609535C>T uc002znw.1 + 2 1159 c.862C>T c.(862-864)Cgc>Tgc p.R288C TUBA8_uc002znv.2_Missense_Mutation_p.R264C|TUBA8_uc021wkt.1_Missense_Mutation_p.R198C NM_001193414 NP_001180343 Q9NY65 TBA8_HUMAN Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA. 264 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 GCCCTACCCCCGCATCCACTT 0.567000 59 30 0 0 1 0 0 GIPC1 10755 broad.mit.edu 37 19 14591232 14591232 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:14591232G>A uc002myt.3 - 5 810 c.540C>T c.(538-540)gcC>gcT p.A180A GIPC1_uc002myv.3_Silent_p.A83A|GIPC1_uc002myu.3_Silent_p.A180A|GIPC1_uc002myw.3_Silent_p.A83A|GIPC1_uc002myx.3_Silent_p.A180A|GIPC1_uc002myy.3_Silent_p.A83A NM_005716 NP_974223 O14908 GIPC1_HUMAN Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA. 180 PDZ. G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding p.E179K(1) endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 GCCCGTTAATGGCCTCGATCA 0.667000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 32 0 0 1 0 0 MAPK14 1432 broad.mit.edu 37 6 36070422 36070422 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:36070422C>T uc003olq.3 + 9 1318 c.837C>T c.(835-837)ccC>ccT p.P279P MAPK14_uc003olo.3_Silent_p.P279P|MAPK14_uc003olp.3_Silent_p.P279P|MAPK14_uc003olr.3_Intron|MAPK14_uc011dti.2_Silent_p.P202P NM_139012 NP_620581 Q16539 MK14_HUMAN Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA. 279 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding p.N278I(1) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 GTGCCAATCCCCTGGGTAAGT 0.368000 125 67 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118558773 118558773 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:118558773G>A uc001ehk.2 - 28 4170 c.4102C>T c.(4102-4104)Cat>Tat p.H1368Y NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1368 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCACCCTTATGGGCCATTGAT 0.393000 38 46 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217858 150217858 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:150217858G>A uc003whk.3 + 1 926 c.796G>A c.(796-798)Gaa>Aaa p.E266K GIMAP7_uc022apu.1_Missense_Mutation_p.E266K NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 266 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) aaatataaGGGAAGAAGCTGA 0.254000 25 11 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55887015 55887015 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:55887015C>T uc010spo.2 + 0 869 c.869C>T c.(868-870)tCt>tTt p.S290F NM_001005519 NP_001005519 A6NDL8 O6C68_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 ATGTTGAATTCTTTCATATAT 0.328000 47 16 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56823952 56823952 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:56823952G>A uc001slf.2 - 9 1191 c.1023C>T c.(1021-1023)ttC>ttT p.F341F TIMELESS_uc001slg.2_Silent_p.F340F NM_003920 NP_003911 Q9UNS1 TIM_HUMAN Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA. 341 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 AGTCTCTGAGGAAGAGCCTCA 0.517000 28 17 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56569737 56569737 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:56569737C>T uc002qmj.3 + 13 3431 c.3431C>T c.(3430-3432)tCg>tTg p.S1144L NLRP5_uc002qmi.3_Missense_Mutation_p.S1125L NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 1144 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AAGCTGTGTTCGGCCTTTGCC 0.493000 20 10 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152765628 152765628 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:152765628G>A uc021zhb.1 - 27 3978 c.3755C>T c.(3754-3756)tCt>tTt p.S1252F SYNE1_uc003qot.4_Missense_Mutation_p.S1259F|SYNE1_uc003qou.4_Missense_Mutation_p.S1252F|SYNE1_uc010kjb.1_Missense_Mutation_p.S1235F|SYNE1_uc003qow.3_Missense_Mutation_p.S547F|SYNE1_uc003qox.1_Missense_Mutation_p.S768F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 1252 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GACTTCTTTAGAGCCAGAAAT 0.363000 HNSCC(10;0.0054) 14 56 0 0 1 0 0 HPN 3249 broad.mit.edu 37 19 35556775 35556775 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:35556775G>A uc002nxq.2 + 12 1299 c.1054G>A c.(1054-1056)Gac>Aac p.D352N HPN_uc002nxr.2_Missense_Mutation_p.D352N|HPN_uc010xsh.1_Missense_Mutation_p.D321N|HPN_uc002nxt.1_Missense_Mutation_p.D236N|LOC100128675_uc010xsi.2_Intron NM_002151 NP_892028 P05981 HEPS_HUMAN Homo sapiens hepsin (HPN), transcript variant 2, mRNA. 352 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) CTCCCAGGGCGACAGCGGTGG 0.657000 35 24 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24229281 24229281 + Nonsense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:24229281A>T uc011mjv.2 + 9 2572 c.2323A>T c.(2323-2325)Aag>Tag p.K775* ZFX_uc004dbd.2_Nonsense_Mutation_p.K736*|ZFX_uc004dbf.3_Nonsense_Mutation_p.K736*|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Nonsense_Mutation_p.K736*|ZFX_uc010nfx.2_Nonsense_Mutation_p.K507*|ZFX_uc010nfz.3_Nonsense_Mutation_p.K392* NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 736 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 TGAGCTTAAAAAGCATATGAA 0.413000 33 87 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126781204 126781204 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:126781204C>T uc003kuh.4 + 20 2909 c.2547C>T c.(2545-2547)ctC>ctT p.L849L MEGF10_uc003kui.4_Silent_p.L849L NM_032446 NP_115822 Q96KG7 MEG10_HUMAN Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA. 849 Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) GTACTGCTCTCCCTGCTGATT 0.438000 66 24 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17867105 17867105 + Missense_Mutation SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:17867105A>G uc022asj.1 + 29 5151 c.5129A>G c.(5128-5130)gAt>gGt p.D1710G PCM1_uc003wyi.4_Missense_Mutation_p.D1671G|PCM1_uc011kyh.2_Missense_Mutation_p.D1663G|PCM1_uc003wyj.4_Missense_Mutation_p.D1617G|PCM1_uc011kyi.2_Missense_Mutation_p.D470G|PCM1_uc011kyj.2_Missense_Mutation_p.D427G|PCM1_uc003wyk.4_Missense_Mutation_p.D353G|PCM1_uc011kyk.2_Missense_Mutation_p.D287G NM_006197 NP_006188 Q15154 PCM1_HUMAN Homo sapiens pericentriolar material 1 (PCM1), mRNA. 1671 Interaction with HAP1. G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TGTGGAGAAGATCTTCTTGTA 0.308000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 9 2 0 0 1 0 0 RANBP3L 202151 broad.mit.edu 37 5 36257607 36257607 + Missense_Mutation SNP C G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:36257607C>G uc011cow.2 - 9 1289 c.796G>C c.(796-798)Gaa>Caa p.E266Q RANBP3L_uc003jkh.3_Missense_Mutation_p.E241Q NM_001161429 NP_001154901 Q86VV4 RNB3L_HUMAN Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA. 241 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) AATGGTTTTTCCTTGGCATAT 0.313000 91 45 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100515155 100515155 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:100515155C>T uc003yiv.3 + 26 4245 c.4134C>T c.(4132-4134)ttC>ttT p.F1378F VPS13B_uc003yiw.3_Silent_p.F1378F|VPS13B_uc003yiu.1_Silent_p.F1378F|VPS13B_uc003yix.1_Silent_p.F848F NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 1378 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TAGAGAGTTTCAATATTGATC 0.294000 64 85 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185392 127185392 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:127185392G>A uc004eum.3 - 0 991 c.794C>T c.(793-795)cCt>cTt p.P265L NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN Homo sapiens actin-related protein T1 (ACTRT1), mRNA. 265 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CAGCTGGTCAGGTGCAAAAAG 0.512000 21 46 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4217012 4217012 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:4217012G>A uc010dtt.1 + 17 2131 c.1855G>A c.(1855-1857)Gaa>Aaa p.E619K ANKRD24_uc002lzs.2_Missense_Mutation_p.E590K|ANKRD24_uc002lzt.2_Missense_Mutation_p.E591K NM_133475 NP_597732 Q8TF21 ANR24_HUMAN Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA. 619 p.K619K(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) AGCAAACATGGAAACTAAGCC 0.552000 17 11 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221617 5221617 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:5221617G>A uc010qyz.2 - 0 314 c.314C>T c.(313-315)tCc>tTc p.S105F NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D104E(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCAATGCAGGAATCCAAGCT 0.532000 33 17 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46401276 46401276 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:46401276C>T uc003cpn.4 + 2 1535 c.1050C>T c.(1048-1050)ctC>ctT p.L350L NM_001123041 NP_001116513 P41597 CCR2_HUMAN Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA. 350 JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CACAAGGACTCCTCGATGGTC 0.493000 53 49 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139856336 139856336 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:139856336C>T uc003yvd.3 - 3 1171 c.724G>A c.(724-726)Gaa>Aaa p.E242K NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 242 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTGTGATTTCCTTGGTTCCT 0.478000 HNSCC(7;0.00092) 115 114 0 0 1 0 0 THRA 7067 broad.mit.edu 37 17 38244579 38244579 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:38244579G>A uc021twy.1 + 7 1364 c.808G>A c.(808-810)Gag>Aag p.E270K THRA_uc010cwp.1_Missense_Mutation_p.E270K|THRA_uc002htv.3_Missense_Mutation_p.E270K|THRA_uc002htw.3_Missense_Mutation_p.E270K|THRA_uc002htx.3_Missense_Mutation_p.E270K NM_001190919 NP_003241 P10827 THA_HUMAN Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA. 270 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm TBP-class protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) CTACGACCCTGAGAGCGACAC 0.632000 53 56 0 0 1 0 0 EEF1A2 1917 broad.mit.edu 37 20 62120282 62120282 + Missense_Mutation SNP T G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:62120282T>G uc002yfe.1 - 6 1419 c.1253A>C c.(1252-1254)tAc>tCc p.Y418S NM_001958 NP_001949 Q05639 EF1A2_HUMAN Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA. 418 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity p.Y418S(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GAGAGGCGGGTACTGGGAGAA 0.667000 33 7 0 0 1 0 0 SNRPA 6626 broad.mit.edu 37 19 41268892 41268892 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:41268892C>T uc002ooz.3 + 3 1068 c.513C>T c.(511-513)ccC>ccT p.P171P NM_004596 NP_004587 P09012 SNRPA_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA. 171 Pro-rich. nucleoplasm|spliceosomal complex RNA binding|nucleotide binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GTATGATCCCCCCGCCAGGCC 0.672000 24 15 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:20414340G>A uc003zoe.2 - 4 763 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR NM_004529 NP_004520 P42568 AF9_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA. 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19)|p.S168S(10) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 10 3 0 0 1 0 0 KLRC1 3821 broad.mit.edu 37 12 10603648 10603648 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:10603648C>T uc001qyl.3 - 1 322 c.108G>A c.(106-108)caG>caA p.Q36Q KLRC1_uc009zhm.2_Silent_p.Q36Q|KLRC1_uc001qym.3_Silent_p.Q36Q|KLRC1_uc001qyn.3_Silent_p.Q36Q|KLRC1_uc001qyo.3_Silent_p.Q36Q NM_002259 NP_998823 P26715 NKG2A_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA. 36 cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 AGGTTATTTCCTGTTCAGTTG 0.393000 56 46 0 0 1 0 0 TIMM21 29090 broad.mit.edu 37 18 71816059 71816059 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:71816059C>T uc010dqr.1 + 0 314 c.16C>T c.(16-18)Cta>Tta p.L6L FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank NM_014177 NP_054896 Q9BVV7 TI21L_HUMAN Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA. 6 protein transport|transmembrane transport integral to membrane|mitochondrial membrane TTGTACTTTTCTACGAGCCGT 0.483000 190 53 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786775 121786775 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:121786775G>A uc003ksw.1 + 9 2439 c.2233G>A c.(2233-2235)Ggc>Agc p.G745S SNCAIP_uc011cwl.1_Missense_Mutation_p.G303S|SNCAIP_uc003ksy.1_Missense_Mutation_p.G379S|SNCAIP_uc003ksx.1_Missense_Mutation_p.G792S|SNCAIP_uc003ksz.1_Missense_Mutation_p.G379S|SNCAIP_uc010jcu.2_Missense_Mutation_p.G341S|SNCAIP_uc011cwm.1_Missense_Mutation_p.G379S|SNCAIP_uc003kta.1_Missense_Mutation_p.G377S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G439S|SNCAIP_uc010jcx.1_Missense_Mutation_p.G685S|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.G261S NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 745 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ATCCCTGGATGGCCACAGCCC 0.557000 49 14 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34014390 34014390 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:34014390C>T uc011kap.2 + 6 944 c.570C>T c.(568-570)tcC>tcT p.S190S NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 190 VWFC 3. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CCAAGTGTTCCTGCACTGTAA 0.507000 59 38 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335499 42335499 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:42335499G>A uc002igf.4 - 10 1286 c.1137C>T c.(1135-1137)ttC>ttT p.F379F SLC4A1_uc021tyc.1_Intron NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 379 bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCAGGCCCCCGAAGAGCTGGC 0.587000 117 36 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70893991 70893991 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:70893991G>A uc002ezr.3 - 70 12257 c.12106C>T c.(12106-12108)Cac>Tac p.H4036Y HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4037 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTTTCAGGGTGGATGAAGCCC 0.478000 51 20 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25259938 25259938 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:25259938C>T uc001rgh.3 + 19 2304 c.1210C>T c.(1210-1212)Ctt>Ttt p.L404F LRMP_uc010sja.2_Missense_Mutation_p.L404F|LRMP_uc010sjc.2_Missense_Mutation_p.L404F|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.L351F|LRMP_uc010sjd.2_Missense_Mutation_p.L351F NM_006152 NP_006143 Q12912 LRMP_HUMAN Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA. 460 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) GAAGCCAAGTCTTTCTGAAAA 0.343000 17 4 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1409168 1409168 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:1409168C>T uc003jck.3 - 10 1597 c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 491 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CCGATGGCTTCGATGAGCACT 0.592000 8 22 0 0 1 0 0 OR2C1 4993 broad.mit.edu 37 16 3406126 3406126 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:3406126C>T uc002cuw.1 + 0 238 c.186C>T c.(184-186)ttC>ttT p.F62F NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGTACTTCTTCCTCAGCAACC 0.517000 83 62 0 0 1 0 0 FAM113B 91523 broad.mit.edu 37 12 47630056 47630056 + Missense_Mutation SNP C T T rs141120293 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:47630056C>T uc001rpq.3 + 1 1735 c.1210C>T c.(1210-1212)Cgt>Tgt p.R404C FAM113B_uc001rpn.3_Missense_Mutation_p.R404C|FAM113B_uc021qxi.1_Missense_Mutation_p.R404C NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 404 Pro-rich. hydrolase activity p.R404C(4) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) TGGCAGGTATCGTCCCCGTGG 0.592000 24 13 0 0 1 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124228404 124228404 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:124228404C>T uc001ufr.3 + 9 1359 c.1111C>T c.(1111-1113)Cgc>Tgc p.R371C NM_012463 NP_036595 Q9Y487 VPP2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA. 371 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) CACTCGGATCCGCACCAACAA 0.433000 104 54 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98506387 98506387 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:98506387C>T uc003upp.3 + 13 1361 c.1152C>T c.(1150-1152)caC>caT p.H384H TRRAP_uc011kis.2_Silent_p.H384H|TRRAP_uc003upr.3_Silent_p.H76H NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 384 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ACCTCGTGCACCATGTCCGCC 0.662000 2 2 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23509677 23509677 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:23509677G>A uc003jgo.3 + 2 350 c.168G>A c.(166-168)agG>agA p.R56R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 56 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.R56S(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATGTGAAAAGGAACTATAATG 0.423000 HNSCC(3;0.000094) 107 30 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34130445 34130445 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:34130445C>T uc001zhi.3 + 88 12334 c.12264C>T c.(12262-12264)ttC>ttT p.F4088F RYR3_uc010bar.3_Silent_p.F4083F NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 4088 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGTGAACTTCTGTGAGGACA 0.453000 61 29 0 0 1 0 0 SH3D21 79729 broad.mit.edu 37 1 36785872 36785872 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:36785872C>T uc010oia.1 + 13 1636 c.1608C>T c.(1606-1608)ccC>ccT p.P536P SH3D21_uc010oib.1_Silent_p.P425P|SH3D21_uc010oic.1_Non-coding_Transcript|SH3D21_uc009vuz.1_Silent_p.P182P NM_001162530 NP_078952 A4FU49 SH321_HUMAN Homo sapiens SH3 domain containing 21 (SH3D21), transcript variant 1, mRNA. 420 endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 CAGAGGCACCCCCACCCCAGC 0.582000 47 19 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12898338 12898338 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:12898338G>A uc002gnz.4 - 19 1967 c.1850C>T c.(1849-1851)tCc>tTc p.S617F ELAC2_uc002gnu.4_Missense_Mutation_p.S14F|ELAC2_uc002gnv.4_Missense_Mutation_p.S245F|ELAC2_uc002gnx.4_Missense_Mutation_p.S377F|ELAC2_uc010vvo.2_Missense_Mutation_p.S415F|ELAC2_uc010vvp.2_Missense_Mutation_p.S598F|ELAC2_uc010vvq.2_Missense_Mutation_p.S616F|ELAC2_uc010vvr.2_Missense_Mutation_p.S577F NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA. 617 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 TGCAGGACTGGAGATCTCAGC 0.468000 127 157 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72952008 72952008 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:72952008C>T uc003xza.3 - 17 2261 c.2086G>A c.(2086-2088)Gag>Aag p.E696K LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA. 696 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TTGAGAAGCTCTATGCGGTTA 0.299000 35 30 0 0 1 0 0 ATG9A 79065 broad.mit.edu 37 2 220089864 220089864 + Missense_Mutation SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:220089864T>C uc002vke.1 - 6 631 c.445A>G c.(445-447)Aag>Gag p.K149E ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.K149E NM_001077198 NP_076990 Q7Z3C6 ATG9A_HUMAN Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA. 149 autophagic vacuole assembly|protein transport Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAGATGAACTTGATAAGCCGG 0.512000 59 36 0 0 1 0 0 QPCTL 54814 broad.mit.edu 37 19 46205096 46205096 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:46205096C>T uc010xxr.2 + 5 1148 c.927C>T c.(925-927)ccC>ccT p.P309P QPCTL_uc010ekn.3_Silent_p.P215P NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN Homo sapiens glutaminyl-peptide cyclotransferase-like (QPCTL), transcript variant 1, mRNA. 309 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1) 11 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) AGTCTCATCCCCAGGAAGTGA 0.577000 46 18 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20665675 20665675 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:20665675G>A uc010tlb.2 + 0 181 c.181G>A c.(181-183)Ggg>Agg p.G61R NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CCCCAGGGAGGGGCAGATCCT 0.527000 32 17 0 0 1 0 0 PKD2 5311 broad.mit.edu 37 4 88967890 88967890 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:88967890C>T uc003hre.3 + 5 1503 c.1416C>T c.(1414-1416)ttC>ttT p.F472F PKD2_uc011cdf.2_Intron NM_000297 NP_000288 Q13563 PKD2_HUMAN Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. 472 basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TTGATTTCTTCCTGGCAGCCT 0.388000 109 32 0 0 1 0 0 TCRBV21S1 0 broad.mit.edu 37 7 142223850 142223850 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142223850G>A uc003vyi.2 - 1 334 c.317C>T c.(316-318)tCg>tTg p.S106L TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; ATACATGGCCGAGTCCCCAAG 0.522000 70 9 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835968 247835968 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:247835968G>A uc001idi.1 - 0 376 c.376C>T c.(376-378)Cct>Tct p.P126S NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA. 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TAATGAAGAGGGAAACAAATG 0.493000 34 9 0 0 1 0 0 COMMD4 54939 broad.mit.edu 37 15 75631649 75631649 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:75631649C>T uc002azy.3 + 5 403 c.346C>T c.(346-348)Ccc>Tcc p.P116S COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Silent_p.A98A|COMMD4_uc002baa.3_Missense_Mutation_p.P116S|COMMD4_uc010umg.2_3'UTR NM_017828 NP_060298 Q9H0A8 COMD4_HUMAN Homo sapiens COMM domain containing 4 (COMMD4), mRNA. 116 cytoplasm protein binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 10 GAAGCAAAGCCCCTTGCAGAA 0.602000 31 8 0 0 1 0 0 UCHL5 51377 broad.mit.edu 37 1 192998407 192998407 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:192998407G>A uc001gsm.3 - 5 600 c.467C>T c.(466-468)tCa>tTa p.S156L UCHL5_uc001gso.3_Missense_Mutation_p.S156L|UCHL5_uc001gsn.3_Non-coding_Transcript|UCHL5_uc010pov.2_Intron|UCHL5_uc001gsq.3_Missense_Mutation_p.S156L|UCHL5_uc001gsp.3_Missense_Mutation_p.S156L|UCHL5_uc010pow.1_Missense_Mutation_p.S32L|UCHL5_uc010pox.2_Missense_Mutation_p.S32L NM_015984 NP_057068 Q9Y5K5 UCHL5_HUMAN Homo sapiens ubiquitin carboxyl-terminal hydrolase L5 (UCHL5), transcript variant 1, mRNA. 156 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process Ino80 complex|cytosol|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 TTCTTTTGCTGATGTCTTCGT 0.308000 26 9 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285838 223285838 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:223285838G>A uc021pjl.1 - 0 536 c.536C>T c.(535-537)tCc>tTc p.S179F TLR5_uc001hnv.2_Missense_Mutation_p.S179F|TLR5_uc001hnw.2_Missense_Mutation_p.S179F NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 179 MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TATTTGGTTGGAGGAAAAATC 0.413000 57 24 0 0 1 0 0 ZNF114 163071 broad.mit.edu 37 19 48785706 48785706 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:48785706C>T uc002pil.1 + 4 585 c.88C>T c.(88-90)Ctc>Ttc p.L30F ZNF114_uc010elv.1_Missense_Mutation_p.L30F|ZNF114_uc002pim.1_Missense_Mutation_p.L30F|ZNF114_uc002pin.2_5'UTR NM_153608 NP_705836 Q8NC26 ZN114_HUMAN Homo sapiens zinc finger protein 114 (ZNF114), mRNA. 30 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) TCAGAGGAATCTCTACAGAGA 0.512000 90 58 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10971341 10971341 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:10971341C>T uc002yip.1 - 4 384 c.16G>A c.(16-18)Gat>Aat p.D6N TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D6N|TPTE_uc002yir.1_Missense_Mutation_p.D6N|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 6 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAGTCGGATCAGGACTAAAG 0.448000 44 9 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140209499 140209499 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140209499C>T uc003lho.2 + 0 1850 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.S608L NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 621 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.S608L(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGCTTTCGTATGAGCTG 0.662000 53 53 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94044364 94044364 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:94044364G>A uc001ybv.1 + 14 1940 c.1857G>A c.(1855-1857)atG>atA p.M619I UNC79_uc001ybs.1_Missense_Mutation_p.M619I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 796 integral to membrane p.M619I(1)|p.M796I(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATGATGAAATGAATCTAAATT 0.423000 27 19 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30735796 30735796 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:30735796C>T uc002dze.1 + 24 5436 c.5051C>T c.(5050-5052)gCc>gTc p.A1684V SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A1479V NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1684 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTGGCCCTAGCCCCAGCTTTA 0.577000 116 51 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999070 46999070 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:46999070G>A uc001jec.3 + 2 325 c.190G>A c.(190-192)Gaa>Aaa p.E64K GPRIN2_uc021ppt.1_Missense_Mutation_p.E64K NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 64 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GGCCCCGGAGGAAGAGGGGAA 0.692000 54 10 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954604 79954604 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:79954604C>T uc002kcy.3 + 6 912 c.815C>T c.(814-816)tCc>tTc p.S272F ASPSCR1_uc002kcx.3_Missense_Mutation_p.S272F|ASPSCR1_uc021ufj.1_Missense_Mutation_p.S195F|ASPSCR1_uc002kda.3_Missense_Mutation_p.S195F|ASPSCR1_uc002kdb.1_Missense_Mutation_p.S195F NM_001251888 NP_001238817 Q9BZE9 ASPC1_HUMAN Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA. 272 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TTGCCGAAGTCCCTCTCCAGC 0.652000 T TFE3 alveolar soft part sarcoma 54 17 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39984649 39984649 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:39984649C>T uc010ggh.3 + 13 1872 c.1781C>T c.(1780-1782)tCc>tTc p.S594F LPIN3_uc002xjx.3_Missense_Mutation_p.S593F|LPIN3_uc010zwf.2_Non-coding_Transcript NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN Homo sapiens lipin 3 (LPIN3), mRNA. 593 C-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) TACAAGAAGTCCCTCCGCCTC 0.587000 84 21 0 0 1 0 0 PHF1 5252 broad.mit.edu 37 6 33382582 33382582 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:33382582C>T uc003oeh.3 + 10 1261 c.1025C>T c.(1024-1026)cCt>cTt p.P342L PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Missense_Mutation_p.P342L|PHF1_uc010jux.3_Missense_Mutation_p.P142L NM_024165 NP_077084 O43189 PHF1_HUMAN Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA. 342 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) GTGGAGCCCCCTACTGGAGAT 0.527000 OREG0017346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 78 51 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40015403 40015403 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:40015403C>T uc003ayc.3 + 3 571 c.571C>T c.(571-573)Cgc>Tgc p.R191C CACNA1I_uc003ayd.3_Missense_Mutation_p.R191C|CACNA1I_uc003aye.3_Missense_Mutation_p.R106C|CACNA1I_uc003ayf.3_Missense_Mutation_p.R106C NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 191 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) AGCCATCAACCGCGTGCCCAG 0.622000 80 30 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 24784836 24784836 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:24784836C>T uc001mqs.3 + 4 652 c.378C>T c.(376-378)atC>atT p.I126I LUZP2_uc009yif.3_Silent_p.I40I|LUZP2_uc009yig.3_Silent_p.I126I NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA. 126 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 GCAAAATGATCCGAGACCTCC 0.294000 21 17 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53519615 53519615 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:53519615G>A uc003pcb.4 - 1 597 c.456C>T c.(454-456)atC>atT p.I152I NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA. 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) CAAGAGTATGGATCTGAAGAT 0.393000 95 77 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83319312 83319312 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:83319312C>T uc004eej.2 - 21 2247 c.2211G>A c.(2209-2211)atG>atA p.M737I RPS6KA6_uc011mqt.2_Missense_Mutation_p.M737I|RPS6KA6_uc011mqu.2_Missense_Mutation_p.M634I NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA. 737 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TTCGCTTTTTCATGCTCCGTC 0.453000 1 11 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70925420 70925420 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:70925420G>A uc021rvq.1 + 0 1204 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K ADAM21_uc001xmd.3_Missense_Mutation_p.E402K NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 402 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AAGATTGGGGGAAATCTTTAT 0.458000 51 28 0 0 1 0 0 GDPGP1 390637 broad.mit.edu 37 15 90784905 90784905 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:90784905C>T uc002bpc.3 + 3 944 c.765C>T c.(763-765)ttC>ttT p.F255F GDPGP1_uc021suh.1_Silent_p.F255F NM_001013657 NP_001013679 Q6ZNW5 VTC2_HUMAN Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA. 255 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity CTCCTGGCTTCCTCTTTTACA 0.577000 18 11 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1216763 1216763 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:1216763G>A uc003jbw.4 + 6 1034 c.978G>A c.(976-978)ggG>ggA p.G326G NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA. 326 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.G326W(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCGTCATTGGGTTCCGCGCCA 0.597000 61 40 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62751564 62751564 + Silent SNP A C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:62751564A>C uc003dll.2 - 1 897 c.537T>G c.(535-537)gcT>gcG p.A179A CADPS_uc003dlm.2_Silent_p.A179A|CADPS_uc003dln.2_Silent_p.A179A|CADPS_uc021wzv.1_Silent_p.A179A NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA. 179 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.N178K(2) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AACTCTGCACAGCGTTCATGA 0.522000 66 14 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2705156 2705156 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:2705156C>T uc009zdu.1 + 19 3093 c.2780C>T c.(2779-2781)tCc>tTc p.S927F CACNA1C_uc001qkc.2_Missense_Mutation_p.S927F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S927F|CACNA1C_uc001qke.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S927F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S927F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S927F|CACNA1C_uc001qko.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S927F|CACNA1C_uc001qku.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S927F|CACNA1C_uc001qks.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S927F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S924F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S927F|CACNA1C_uc001qka.1_Missense_Mutation_p.S462F|CACNA1C_uc001qki.1_Missense_Mutation_p.S663F NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 927 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CAGCACACCTCCTTCAGGAAC 0.542000 44 23 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133795684 133795684 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:133795684C>T uc001qgx.4 - 13 2215 c.1984G>A c.(1984-1986)Gat>Aat p.D662N IGSF9B_uc001qgy.1_Missense_Mutation_p.D504N NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 662 Fibronectin type-III 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGGATGCCATCGTCGAGCAAC 0.597000 11 21 0 0 1 0 0 SCG3 29106 broad.mit.edu 37 15 51975487 51975487 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:51975487G>A uc002abh.3 + 3 656 c.253G>A c.(253-255)Gaa>Aaa p.E85K SCG3_uc010ufz.2_5'UTR NM_013243 NP_001158729 Q8WXD2 SCG3_HUMAN Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA. 85 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) AACAGAAAAGGAAAAAATTGA 0.373000 94 51 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43895991 43895991 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:43895991C>T uc010skx.2 - 3 831 c.831G>A c.(829-831)tcG>tcA p.S277S NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 277 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTTGCAAATTCGATCCATGAG 0.289000 7 9 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35969476 35969476 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:35969476G>A uc004ddj.3 + 5 951 c.885_splice c.e5+1 p.L295_splice CXorf22_uc010ngv.3_Splice_Site NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 295 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GAGAAGAATTGGTAAGTAAGT 0.348000 4 6 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148388497 148388497 + Missense_Mutation SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:148388497A>G uc003lpu.3 - 14 3547 c.3395T>C c.(3394-3396)cTg>cCg p.L1132P SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.L776P|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.L679P|SH3TC2_uc010jgx.3_Missense_Mutation_p.L1125P NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 1132 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCTCTGTCAGCTTATTGAA 0.527000 99 33 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83549909 83549909 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:83549909C>T uc003kio.1 - 1 608 c.189G>A c.(187-189)gtG>gtA p.V63V EDIL3_uc003kip.1_Silent_p.V63V NM_005711 NP_005702 O43854 EDIL3_HUMAN Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA. 63 cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TACCAACCTCCACAACACTAG 0.403000 26 20 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160059352 160059352 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:160059352C>T uc003lym.1 - 12 2251 c.1404G>A c.(1402-1404)aaG>aaA p.K468K ATP10B_uc003lyn.3_Silent_p.K26K NM_025153 NP_079429 O94823 AT10B_HUMAN Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA. 468 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTCCAGCTCCTTTGGGGTCT 0.517000 55 65 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216680314 216680314 + Silent SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:216680314T>C uc001hkw.2 - 6 1517 c.1344A>G c.(1342-1344)aaA>aaG p.K448K ESRRG_uc009xdp.1_Silent_p.K425K|ESRRG_uc001hky.1_Silent_p.K425K|ESRRG_uc001hkz.2_Silent_p.K386K|ESRRG_uc010puc.2_Silent_p.K425K|ESRRG_uc001hla.2_Silent_p.K425K|ESRRG_uc001hlb.2_Silent_p.K425K|ESRRG_uc010pud.2_Silent_p.K263K|ESRRG_uc021pja.1_Silent_p.K197K|ESRRG_uc001hlc.1_Silent_p.K425K|ESRRG_uc001hld.1_Silent_p.K425K|ESRRG_uc001hkx.2_Silent_p.K460K|ESRRG_uc009xdo.2_Silent_p.K425K|ESRRG_uc001hle.2_Silent_p.K425K|ESRRG_uc021piz.1_Silent_p.K425K NM_001438 NP_001230435 P62508 ERR3_HUMAN Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA. 448 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CCAAAAAAAGTTTGTGCATTG 0.468000 44 12 0 0 1 0 0 PCDP1 200373 broad.mit.edu 37 2 120383218 120383218 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:120383218G>A uc002tmb.3 + 15 1724 c.612G>A c.(610-612)gaG>gaA p.E204E PCDP1_uc010yyq.2_Silent_p.E334E NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 490 cilium calmodulin binding p.E204D(1) Colorectal(110;0.196) TGGACAAAGAGAGTATACTGA 0.413000 46 23 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408570 29408570 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:29408570C>T uc011dlp.2 + 0 855 c.778C>T c.(778-780)Cgc>Tgc p.R260C OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA. 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TATCTATATTCGCCCTAAGGC 0.582000 295 180 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41571226 41571226 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:41571226C>T uc002idu.1 + 7 1256 c.1184C>T c.(1183-1185)tCt>tTt p.S395F DHX8_uc010wif.1_Missense_Mutation_p.S304F|DHX8_uc010wig.2_Missense_Mutation_p.S395F NM_004941 NP_004932 Q14562 DHX8_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA. 395 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ACCCGAATCTCTGACCCAGAG 0.522000 86 29 0 0 1 0 0 RTP3 83597 broad.mit.edu 37 3 46539609 46539609 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:46539609G>A uc003cps.1 + 0 125 c.57G>A c.(55-57)gtG>gtA p.V19V NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA. 19 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TGCGGGAGGTGAAGCCATGGC 0.587000 53 29 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46977272 46977272 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:46977272G>A uc003oyt.3 - 10 2098 c.1899C>T c.(1897-1899)tcC>tcT p.S633S GPR110_uc011dwl.2_Silent_p.S321S NM_153840 NP_722582 Q5T601 GP110_HUMAN Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA. 633 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CAATCAAGAGGGACAGGGCTA 0.458000 32 16 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123200607 123200607 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:123200607G>A uc001ucy.4 - 0 833 c.678C>T c.(676-678)atC>atT p.I226I HCAR1_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA. 226 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) TGGCTCTCTTGATCTTGGCAT 0.552000 23 15 0 0 1 0 0 FKBP3 2287 broad.mit.edu 37 14 45603623 45603623 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:45603623C>T uc010tqf.2 - 0 387 c.37G>A c.(37-39)Gag>Aag p.E13K FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.4_5'Flank|FANCM_uc010anf.3_5'Flank NM_002013 NP_002004 Q00688 FKBP3_HUMAN Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA. 13 protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 12 CGCAGCTGCTCCACGGTCCAC 0.662000 41 23 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95735798 95735798 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:95735798C>T uc003kls.2 - 9 1528 c.1289G>A c.(1288-1290)gGa>gAa p.G430E PCSK1_uc010jbi.2_Missense_Mutation_p.G120E|PCSK1_uc021ybq.1_Missense_Mutation_p.G383E NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 430 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAAGCCTGCTCCATTCTTTTT 0.532000 67 58 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307514 140307514 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140307514C>T uc003lih.2 + 0 1213 c.1037C>T c.(1036-1038)tCg>tTg p.S346L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.S346L NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 371 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGACTCTTTCGAACCCAGTA 0.517000 80 99 0 0 1 0 0 TCRBV3S1 0 broad.mit.edu 37 7 142428703 142428703 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142428703G>A uc011ksk.1 + 1 80 c.63G>A c.(61-63)gtG>gtA p.V21V TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_5'UTR SubName: Full=V_segment translation product; Flags: Fragment; TCGTAGATGTGAAAGTAACCC 0.428000 13 9 0 0 1 0 0 BCMO1 53630 broad.mit.edu 37 16 81324154 81324154 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:81324154C>T uc002fgn.1 + 10 1834 c.1616C>T c.(1615-1617)tCc>tTc p.S539F BCMO1_uc010vnp.1_Missense_Mutation_p.S470F NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. 539 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 GACAGGGCTTCCGACTGCCAC 0.537000 50 26 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55286782 55286782 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:55286782G>A uc010erz.1 + 3 574 c.536G>A c.(535-537)gGa>gAa p.G179E KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.G179E NM_014218 NP_055033 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA. 179 Ig-like C2-type 2. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) AAGGTCAACGGAACATTCCAG 0.577000 101 48 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1386255 1386255 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:1386255G>A uc002fsp.3 - 3 666 c.446C>T c.(445-447)gCc>gTc p.A149V MYO1C_uc002fsn.3_Missense_Mutation_p.A130V|MYO1C_uc002fso.3_Missense_Mutation_p.A114V|MYO1C_uc010vqj.1_Missense_Mutation_p.A114V|MYO1C_uc010vqk.1_Missense_Mutation_p.A125V NM_001080779 NP_203693 O00159 MYO1C_HUMAN Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA. 149 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCTCTTGGTGGCCTCGGTCTT 0.672000 27 10 0 0 1 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101771168 101771168 + Missense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:101771168A>T uc001pgl.3 - 6 1250 c.654T>A c.(652-654)gaT>gaA p.D218E NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA. 218 Fibrinogen C-terminal. 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) AACCTAGAAGATCTCCAAATC 0.348000 67 16 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29641914 29641914 + Silent SNP C T T rs139267044 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:29641914C>T uc001bru.3 + 23 3417 c.3288C>T c.(3286-3288)atC>atT p.I1096I PTPRU_uc009vtq.3_Silent_p.I1092I|PTPRU_uc009vtr.3_Silent_p.I1083I|PTPRU_uc001brw.3_Silent_p.I1086I NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 1096 Tyrosine-protein phosphatase 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GTTGCTATATCGTCCTGGATG 0.582000 87 28 0 0 1 0 0 RMND1 55005 broad.mit.edu 37 6 151757651 151757651 + Missense_Mutation SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:151757651C>A uc003qoi.2 - 2 723 c.543G>T c.(541-543)gaG>gaT p.E181D RMND1_uc011eeq.1_5'UTR|RMND1_uc003qoj.3_Missense_Mutation_p.E181D|RMND1_uc011eer.1_Missense_Mutation_p.E181D NM_017909 NP_060379 Q9NWS8 RMND1_HUMAN Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA. 181 central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) CCAGATGATACTCATCTGCCG 0.488000 82 3 0.150653 0.150861 1 1 0 MAD2L1 4085 broad.mit.edu 37 4 120981287 120981287 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:120981287G>A uc003idl.2 - 4 728 c.604C>T c.(604-606)Cct>Tct p.P202S MAD2L1_uc003idm.2_3'UTR NM_002358 NP_002349 Q13257 MD2L1_HUMAN Homo sapiens MAD2 mitotic arrest deficient-like 1 (yeast) (MAD2L1), mRNA. 202 Required for assuming the closed conformation and for interaction with CDC20. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity breast(2)|kidney(2)|large_intestine(2)|lung(3) 9 TCATTGACAGGAATTTTGTAG 0.353000 94 27 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17109539 17109539 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:17109539G>A uc011awc.2 + 5 3258 c.3162G>A c.(3160-3162)tgG>tgA p.W1054* PLCL2_uc011awd.2_Nonsense_Mutation_p.W936* NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 1062 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GCTTTACCTGGAATATTACCA 0.408000 84 25 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413575 178413575 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:178413575C>T uc003mjr.3 - 7 1859 c.1680G>A c.(1678-1680)ggG>ggA p.G560G GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.G143G|GRM6_uc003mjs.1_Silent_p.G180G NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 560 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GCCTCATGTCCCCAGGACAGG 0.692000 23 23 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111785930 111785930 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:111785930C>T uc001tsa.2 + 21 4416 c.4262C>T c.(4261-4263)tCc>tTc p.S1421F NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1421 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCTCCCATCTCCCCATCCCCA 0.662000 40 23 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57528453 57528453 + Missense_Mutation SNP G T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:57528453G>T uc003dit.2 - 1 326 c.145C>A c.(145-147)Cag>Aag p.Q49K DNAH12_uc003diu.2_Missense_Mutation_p.Q49K NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA. 49 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 TTCTGCTGCTGCTCCTTGGAT 0.363000 38 23 7.26314e-15 7.30335e-15 1 1 0 SIGLEC8 27181 broad.mit.edu 37 19 51961520 51961520 + Missense_Mutation SNP A C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:51961520A>C uc002pwt.3 - 0 189 c.122T>G c.(121-123)cTg>cGg p.L41R SIGLEC8_uc010yda.2_Missense_Mutation_p.L41R|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.L41R NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 41 Ig-like V-type. cell adhesion integral to membrane sugar binding|transmembrane receptor activity p.L41M(2) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ATGGACACACAGGCCCTCCTG 0.597000 79 49 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96535210 96535211 + Missense_Mutation DNP GG AA AA rs72552267 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:96535210_96535211GG>AA uc010qnz.2 + 2 395_396 c.395_396GG>AA c.(394-396)cgg>cAA p.R132Q CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.R110Q NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 132 R -> Q (in allele CYP2C19*6; loss of activity). exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) ATGACGCTGCGGAATTTTGGGA 0.510000 49 35 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140767861 140767861 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140767861C>T uc003lkc.2 + 0 410 c.410C>T c.(409-411)tCc>tTc p.S137F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 137 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCAAAATTCCTTTGAGCTG 0.433000 23 38 0 0 1 0 0 RXRB 6257 broad.mit.edu 37 6 33168121 33168121 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:33168121G>A uc003odb.3 - 0 312 c.133C>T c.(133-135)Ccc>Tcc p.P45S RXRB_uc003odc.3_Missense_Mutation_p.P45S|RXRB_uc011dqr.2_Intron|RXRB_uc011dqs.1_Missense_Mutation_p.P45S|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_Missense_Mutation_p.P45S|RXRB_uc011dqu.1_Silent_p.I31I|SLC39A7_uc003odf.3_5'Flank|SLC39A7_uc003odg.3_5'Flank|SLC39A7_uc011dqv.2_5'Flank NM_021976 NP_068811 P28702 RXRB_HUMAN Homo sapiens retinoid X receptor, beta (RXRB), mRNA. 45 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) gccgctgcGGGATCCAGCCAG 0.741000 8 8 0 0 1 0 0 DHRS7C 201140 broad.mit.edu 37 17 9683185 9683185 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:9683185C>T uc010vvb.2 - 2 451 c.438G>A c.(436-438)aaG>aaA p.K146K DHRS7C_uc010cof.3_Silent_p.K145K NM_001220493 NP_001207422 A6NNS2 DRS7C_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA. 146 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CATCCATGATCTTTTTGTCGA 0.493000 10 11 0 0 1 0 0 KIAA1143 57456 broad.mit.edu 37 3 44795030 44795030 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:44795030G>A uc011bac.2 - 2 347 c.268C>T c.(268-270)Cca>Tca p.P90S NM_020696 NP_065747 Q96AT1 K1143_HUMAN Homo sapiens KIAA1143 (KIAA1143), mRNA. 90 NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) CCATCGGCTGGAGTTGGTTCT 0.338000 28 30 0 0 1 0 0 P2RX3 5024 broad.mit.edu 37 11 57114888 57114888 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:57114888G>A uc001nju.3 + 4 512 c.328_splice c.e4-1 p.S110_splice NM_002559 NP_002550 P56373 P2RX3_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA. 110 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 TCTGCCCACAGAGTGAGGAGA 0.622000 2 8 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40810325 40810326 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:40810325_40810326GG>AA uc003gvj.4 + 11 2021_2022 c.1526_1527GG>AA c.(1525-1527)cgg>cAA p.R509Q NSUN7_uc003gvi.4_Missense_Mutation_p.G468K NM_024677 NP_078953 Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA. NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 TAATTGCAGCGGGACCCTTCTG 0.416000 53 44 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118558676 118558676 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:118558676C>T uc001ehk.2 - 28 4267 c.4199G>A c.(4198-4200)gGa>gAa p.G1400E NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1400 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GATCCGATTTCCTTCAGGTGT 0.478000 62 19 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147159 26147159 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:26147159C>T uc002dof.3 + 1 1353 c.961C>T c.(961-963)Ctc>Ttc p.L321F NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA. 321 heparan sulfate proteoglycan metabolic process Golgi membrane|extracellular region|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) AAACCGGACCCTCGGGCTGAT 0.547000 134 68 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180116 124180116 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:124180116G>A uc010sag.2 - 0 547 c.547C>T c.(547-549)Ccc>Tcc p.P183S NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TTGAGGAGGGGAAGAACATCA 0.458000 12 21 0 0 1 0 0 TOX3 27324 broad.mit.edu 37 16 52484400 52484400 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:52484400G>A uc002egw.2 - 3 638 c.467C>T c.(466-468)tCc>tTc p.S156F TOX3_uc010vgt.1_Missense_Mutation_p.S151F NM_001080430 NP_001073899 O15405 TOX3_HUMAN Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA. 156 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity p.R155R(1)|p.R155W(1) NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 GTGGACGATGGACCGCATGAT 0.557000 63 40 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117718539 117718539 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:117718539C>T uc001twn.2 - 7 2226 c.1515G>A c.(1513-1515)caG>caA p.Q505Q NOS1_uc021ren.1_Silent_p.Q169Q|NOS1_uc021reo.1_Silent_p.Q169Q|NOS1_uc001twm.2_Silent_p.Q505Q NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 505 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCTCTGTGAACTGCACATTGG 0.592000 35 19 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395143 115395143 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:115395143G>A uc003ebr.2 + 2 1096 c.422G>A c.(421-423)gGa>gAa p.G141E GAP43_uc003ebq.2_Missense_Mutation_p.G105E NM_001130064 NP_001123536 P17677 NEUM_HUMAN Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA. 105 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) GGCAAAGCAGGAGAAACTCCT 0.637000 23 31 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629394 1629394 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:1629394C>T uc001ltw.1 - 0 300 c.222G>A c.(220-222)aaG>aaA p.K74K MOB2_uc001ltq.2_Intron NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA. 74 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) CACAGCCCCCCTTGCAGCCCC 0.677000 94 88 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22903156 22903156 + Silent SNP G A A rs55952392 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:22903156G>A uc001bfx.1 + 2 731 c.606G>A c.(604-606)aaG>aaA p.K202K EPHA8_uc001bfw.3_Silent_p.K202K NM_020526 NP_065387 P29322 EPHA8_HUMAN Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. 202 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCTACTATAAGAAGTGCCCTG 0.642000 12 13 0 0 1 0 0 RASGRP2 10235 broad.mit.edu 37 11 64502688 64502688 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:64502688C>T uc009ypu.3 - 11 1535 c.1308G>A c.(1306-1308)cgG>cgA p.R436R RASGRP2_uc001oat.3_Silent_p.R338R|RASGRP2_uc001oau.3_Silent_p.R291R|RASGRP2_uc009ypv.3_Silent_p.R436R|RASGRP2_uc009ypw.3_Silent_p.R436R NM_001098671 NP_722541 Q7LDG7 GRP2_HUMAN Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA. 436 EF-hand 1. Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CGTCAAAGTTCCGGAACACAG 0.572000 16 24 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50690906 50690906 + Missense_Mutation SNP G A A rs61760163 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:50690906G>A uc001jhs.4 - 9 2150 c.1996C>T c.(1996-1998)Cgc>Tgc p.R666C ERCC6_uc010qgr.2_Missense_Mutation_p.R36C|ERCC6_uc001jhr.4_Missense_Mutation_p.R66C NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 666 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGAGGGGTGCGAAACTATTTG 0.433000 Direct reversal of damage;Nucleotide excision repair (NER) 32 17 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 12 49440517 49440517 + Missense_Mutation SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:49440517C>A uc001rta.4 - 14 4293 c.4293G>T c.(4291-4293)gaG>gaT p.E1431D NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 1431 Cys-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GGCCACACACCTCACACACAA 0.572000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 48 3 1 1 1 1 0 SPIB 6689 broad.mit.edu 37 19 50923210 50923210 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:50923210G>A uc002psd.3 + 1 56 c.31G>A c.(31-33)Ggg>Agg p.G11R SPIB_uc021uyc.1_5'UTR|SPIB_uc002pse.3_Missense_Mutation_p.G11R|SPIB_uc010ycc.2_5'UTR NM_003121 NP_003112 Q01892 SPIB_HUMAN Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA. 11 TAD1 (Acidic). regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CAGGCTCGACGGGCCACACTT 0.647000 12 4 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96761854 96761854 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:96761854G>A uc003htr.4 + 0 616 c.553G>A c.(553-555)Gat>Aat p.D185N NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 185 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.N184N(3) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TAAAGGAAACGATGAGATCTG 0.483000 26 43 0 0 1 0 0 PDGFB 5155 broad.mit.edu 37 22 39627804 39627804 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:39627804C>T uc003axf.3 - 3 1268 c.279G>A c.(277-279)atG>atA p.M93I PDGFB_uc003axe.3_Missense_Mutation_p.M78I NM_002608 NP_002599 P01127 PDGFB_HUMAN Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA. 93 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) ACTCGGCGATCATGGCCGGCT 0.647000 T COL1A1 DFSP 21 5 0 0 1 0 0 GALNT1 2589 broad.mit.edu 37 18 33234753 33234753 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:33234753C>T uc010dmu.3 + 1 180 c.127C>T c.(127-129)Cct>Tct p.P43S GALNT1_uc002kyz.4_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.P43S|GALNT1_uc002kzb.3_Missense_Mutation_p.P43S NM_020474 NP_065207 Q10472 GALT1_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA. 43 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 GAGAGGACTTCCTGCTGGAGA 0.353000 32 15 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626828 108626828 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:108626828C>T uc002tdv.3 + 8 1530 c.1254C>T c.(1252-1254)ttC>ttT p.F418F SLC5A7_uc010ywm.2_Silent_p.F171F|SLC5A7_uc010fjj.3_Silent_p.F418F|SLC5A7_uc010ywn.2_Silent_p.F305F NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 418 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.I417I(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TCGTTATCTTCCCCCAGCTGC 0.498000 41 21 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183635317 183635317 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:183635317G>A uc003ivd.1 + 11 2374 c.2299G>A c.(2299-2301)Gga>Aga p.G767R ODZ3_uc003ive.1_Missense_Mutation_p.G173R NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 767 EGF-like 8. signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GTGCCAGCCTGGATGGAGAGG 0.502000 27 36 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137293577 137293577 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:137293577C>T uc004cfb.2 + 1 290 c.128C>T c.(127-129)tCc>tTc p.S43F RXRA_uc004cfa.1_Silent_p.L93L NM_002957 NP_002948 P19793 RXRA_HUMAN Homo sapiens retinoid X receptor, alpha (RXRA), mRNA. 43 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GGCATCGGCTCCCCGGGACAG 0.687000 55 42 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108719493 108719493 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:108719493C>T uc003dxl.3 - 20 2185 c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K MORC1_uc011bhn.2_Missense_Mutation_p.E679K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 700 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTTTTCATTTCCCAAGAAGCG 0.373000 69 15 0 0 1 0 0 TPRG1 285386 broad.mit.edu 37 3 188956522 188956522 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:188956522G>A uc003frv.2 + 9 1530 c.303_splice c.e9-1 p.K101_splice TPRG1_uc003frw.2_Splice_Site_p.K101_splice NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA. 101 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) ATTCCTATAGGATAGACCACT 0.398000 56 37 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15537690 15537690 + Missense_Mutation SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:15537690T>C uc002yjm.3 - 5 828 c.818A>G c.(817-819)aAc>aGc p.N273S LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.N222S|LIPI_uc021whh.1_Missense_Mutation_p.N252S|LIPI_uc021whi.1_Missense_Mutation_p.N87S|LIPI_uc021whj.1_Missense_Mutation_p.N252S|LIPI_uc021whe.1_Intron|LIPI_uc021whf.1_Missense_Mutation_p.N252S NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 252 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TCTCTGGTGGTTGCATTTAAT 0.308000 22 16 0 0 1 0 0 IQCF1 132141 broad.mit.edu 37 3 51930911 51930911 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:51930911C>T uc003dbv.3 - 3 207 c.109_splice c.e3-1 p.A37_splice IQCF1_uc003dbq.4_Splice_Site NM_152397 NP_689610 Q8N6M8 IQCF1_HUMAN Homo sapiens IQ motif containing F1 (IQCF1), mRNA. 37 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GAGTTTTAGCCTGAAAAGGAA 0.428000 92 29 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22990188 22990188 + Silent SNP C T T rs148724829 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:22990188C>T uc001yus.3 + 23 2912 c.2808C>T c.(2806-2808)gtC>gtT p.V936V CYFIP1_uc001yut.3_Silent_p.V936V|CYFIP1_uc010aya.1_Silent_p.V964V|CYFIP1_uc001yuu.3_Silent_p.V505V|CYFIP1_uc001yuv.3_Silent_p.V130V NM_014608 NP_055423 Q7L576 CYFP1_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA. 936 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome Rac GTPase binding|actin filament binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TGCTGAAGGTCGTCAAGAGCC 0.582000 37 22 0 0 1 0 0 GALR1 2587 broad.mit.edu 37 18 74968155 74968155 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:74968155G>A uc002lms.4 + 1 1205 c.708G>A c.(706-708)aaG>aaA p.K236K NM_001480 NP_001471 P47211 GALR1_HUMAN Homo sapiens galanin receptor 1 (GALR1), mRNA. 236 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) ACATGTCAAAGAAGTCTGAAG 0.348000 78 37 0 0 1 0 0 ALG10 84920 broad.mit.edu 37 12 34179674 34179674 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:34179674C>T uc001rlm.3 + 2 1565 c.1246C>T c.(1246-1248)Cgt>Tgt p.R416C NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA. 416 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) GCTGGAATTTCGTTACTTCAT 0.348000 78 43 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113988269 113988269 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:113988269G>A uc003ynu.3 - 6 1298 c.1139C>T c.(1138-1140)tCc>tTc p.S380F CSMD3_uc003ynt.3_Missense_Mutation_p.S340F|CSMD3_uc011lhx.2_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 380 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGTAACACTGGATACAGTAAC 0.498000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 45 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186092168 186092168 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:186092168C>T uc001grq.1 + 80 12544 c.12315C>T c.(12313-12315)ctC>ctT p.L4105L MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 4105 Ig-like C2-type 40. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAGATGGCCTCCCTCCGCCTG 0.473000 41 43 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13828763 13828763 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:13828763C>T uc001rbt.2 - 3 1220 c.1041G>A c.(1039-1041)agG>agA p.R347R NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 347 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGGACAAATTCCTCCCCTCAA 0.403000 35 19 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53345285 53345285 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:53345285G>A uc002qaf.3 - 3 413 c.262C>T c.(262-264)Cat>Tat p.H88Y ZNF468_uc002qae.3_Missense_Mutation_p.H35Y|ZNF468_uc021uzb.1_Missense_Mutation_p.H35Y NM_001008801 NP_954583 Q5VIY5 ZN468_HUMAN Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA. 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TCAATTTCATGGAAACAAAAT 0.438000 70 38 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196963358 196963358 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:196963358G>A uc001gts.4 + 3 707 c.579G>A c.(577-579)ggG>ggA p.G193G NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 193 Sushi 3. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ACCAATTTGGGTGGTCACCTA 0.318000 102 35 0 0 1 0 0 ALG10B 144245 broad.mit.edu 37 12 38712071 38712071 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:38712071C>T uc001rln.4 + 1 319 c.180C>T c.(178-180)ccC>ccT p.P60P NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA. 60 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) AGTGGGATCCCATGATTACTA 0.418000 108 71 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246797840 246797840 + Missense_Mutation SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:246797840A>G uc001ibp.3 + 5 1147 c.769A>G c.(769-771)Aat>Gat p.N257D CNST_uc001ibo.4_Missense_Mutation_p.N257D NM_152609 NP_689822 Q6PJW8 CNST_HUMAN Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA. 257 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 AAAGGGATTTAATGGTGAAGA 0.333000 74 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076735 9076735 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:9076735C>T uc002mkp.3 - 2 10915 c.10711G>A c.(10711-10713)Gag>Aag p.E3571K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3572 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGCGCCTCTCTGTGGCCGGG 0.517000 57 32 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81253736 81253736 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:81253736G>A uc002fgh.1 - 0 240 c.240C>T c.(238-240)tcC>tcT p.S80S PKD1L2_uc002fgj.3_Silent_p.S80S NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 80 C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCCTGTCCTGGGAGATGTGCT 0.552000 52 37 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18283920 18283920 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:18283920G>A uc004cyl.2 - 7 890 c.733C>T c.(733-735)Cct>Tct p.P245S SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.P245S|SCML2_uc011miz.1_Missense_Mutation_p.P179S|SCML2_uc010nfc.2_5'UTR NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA. 245 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TTTACAATAGGAACTGAGGAA 0.333000 5 14 0 0 1 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228854 57228854 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:57228854G>A uc010lyk.1 - 1 691 c.53C>T c.(52-54)tCa>tTa p.S18L SDR16C5_uc003xsy.1_Missense_Mutation_p.S18L|SDR16C5_uc010lyl.1_Missense_Mutation_p.S18L NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 18 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 ACTAAACAGTGATTTTCCTAA 0.418000 46 41 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20665886 20665886 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:20665886C>T uc010tlb.2 + 0 392 c.392C>T c.(391-393)tCg>tTg p.S131L NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) AAGATCATCTCGTTCTCTGGC 0.483000 16 11 0 0 1 0 0 SPATA22 84690 broad.mit.edu 37 17 3365798 3365798 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:3365798C>T uc002fvm.3 - 4 546 c.308G>A c.(307-309)gGa>gAa p.G103E SPATA22_uc010vrg.2_Missense_Mutation_p.G87E|SPATA22_uc010vrf.2_Missense_Mutation_p.G103E|SPATA22_uc002fvo.3_Missense_Mutation_p.G103E|SPATA22_uc002fvn.3_Missense_Mutation_p.G103E|SPATA22_uc002fvp.3_Missense_Mutation_p.G103E|SPATA22_uc010ckf.3_Missense_Mutation_p.G60E NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA. 103 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 CTGGCTTCTTCCAGTATTTGA 0.388000 54 64 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146825844 146825844 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:146825844C>T uc003weu.2 + 6 1515 c.999C>T c.(997-999)ttC>ttT p.F333F NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 333 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GAAAGAATTTCAAAGGCTGCA 0.413000 HNSCC(39;0.1) 59 26 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887578 3887578 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:3887578C>T uc003bpt.4 + 1 2014 c.1253C>T c.(1252-1254)tCg>tTg p.S418L SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.S418L NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 418 LRRCT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATCCAGGATTCGAGTGAACAG 0.498000 112 17 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88780987 88780987 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:88780987C>T uc001pcq.3 - 0 254 c.54G>A c.(52-54)ggG>ggA p.G18G GRM5_uc009yvm.3_Silent_p.G18G|GRM5_uc009yvn.2_Silent_p.G18G NM_001143831 NP_001137303 P41594 GRM5_HUMAN Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA. 18 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R17C(2) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) ACTGTGCACTCCCACGGACAT 0.468000 35 36 0 0 1 0 0 POU2F2 5452 broad.mit.edu 37 19 42626516 42626516 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:42626516C>T uc002osp.3 - 2 171 c.109G>A c.(109-111)Gga>Aga p.G37R POU2F2_uc002osn.3_Missense_Mutation_p.G37R|POU2F2_uc002osq.3_Missense_Mutation_p.G37R|POU2F2_uc002osr.2_Missense_Mutation_p.G37R NM_001207025 NP_001193954 P09086 PO2F2_HUMAN Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA. 37 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GTGTCTGGTCCATTTCTTTCG 0.572000 89 51 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113194892 113194892 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:113194892G>A uc010mtz.3 - 30 5420 c.5083C>T c.(5083-5085)Cct>Tct p.P1695S NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 1695 Sushi 6. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TTCTCCAAAGGAGGTGGCACC 0.448000 73 29 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432608 104432608 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:104432608C>T uc004bbp.2 - 2 2687 c.2086G>A c.(2086-2088)Gaa>Aaa p.E696K GRIN3A_uc004bbq.1_Missense_Mutation_p.E696K NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 696 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTCTTCCATTCATACAGAGTG 0.488000 58 33 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40080475 40080475 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:40080475C>T uc003ayc.3 + 35 5999 c.5999C>T c.(5998-6000)cCa>cTa p.P2000L CACNA1I_uc003ayd.3_Missense_Mutation_p.P1965L|CACNA1I_uc003aye.3_Missense_Mutation_p.P1915L|CACNA1I_uc003ayf.3_Missense_Mutation_p.P1880L NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 2000 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CTGCGGTCACCAAGGGTCAAC 0.627000 17 8 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25886748 25886748 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:25886748G>A uc001isj.3 + 10 2253 c.2193G>A c.(2191-2193)aaG>aaA p.K731K GPR158_uc001isk.3_Silent_p.K106K NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 731 integral to membrane|plasma membrane G-protein coupled receptor activity p.R730I(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 ATAAAAGAAAGAAGATGATCA 0.438000 63 38 0 0 1 0 0 FAM75D1 389763 broad.mit.edu 37 9 84607771 84607771 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:84607771G>A uc004amn.3 + 3 2433 c.2386G>A c.(2386-2388)Gat>Aat p.D796N NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 796 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 TTCAGACAAGGATCTGAGGTC 0.463000 64 22 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169783743 169783743 + Nonsense_Mutation SNP T A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:169783743T>A uc002ueo.1 - 25 3667 c.3541A>T c.(3541-3543)Aaa>Taa p.K1181* ABCB11_uc010zda.1_Nonsense_Mutation_p.K599*|ABCB11_uc010zdb.1_Nonsense_Mutation_p.K657* NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 1181 ABC transporter 2. bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GGAATTTCTTTGGTGTTGTCT 0.443000 66 32 0 0 1 0 0 TET2 54790 broad.mit.edu 37 4 106155902 106155902 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:106155902C>T uc011cez.2 + 2 1271 c.866C>T c.(865-867)tCg>tTg p.S289L TET2_uc003hxk.3_Missense_Mutation_p.S268L|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.S268L|TET2_uc010ilp.2_Missense_Mutation_p.S268L|TET2_uc021xql.1_Missense_Mutation_p.S268L NM_001127208 NP_001120680 Q6N021 TET2_HUMAN Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA. 268 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.S268W(1)|p.A289fs*4(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) ACTCACCCATCGCATACCTCA 0.498000 """Mis N, F""" MDS 38 12 0 0 1 0 0 IL33 90865 broad.mit.edu 37 9 6252883 6252883 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:6252883G>A uc003zjt.3 + 4 439 c.361G>A c.(361-363)Gag>Aag p.E121K IL33_uc011lmg.2_Intron|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Missense_Mutation_p.E79K NM_033439 NP_254274 O95760 IL33_HUMAN Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA. 121 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) ACCTATTACAGAGTATCTTGC 0.313000 19 26 0 0 1 0 0 OR1J4 26219 broad.mit.edu 37 9 125281758 125281758 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:125281758C>T uc011lyw.2 + 0 339 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA. 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 TAGACAATTTCCTTCTCACTT 0.408000 53 37 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17091331 17091331 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:17091331G>A uc002nfb.3 - 13 1734 c.1702C>T c.(1702-1704)Cgt>Tgt p.R568C NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 521 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TGTGTTAAACGAATCGGTTTC 0.592000 42 24 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661463 77661463 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:77661463G>A uc011cbx.2 + 4 3090 c.2137G>A c.(2137-2139)Ggg>Agg p.G713R SHROOM3_uc011cbz.1_Missense_Mutation_p.G537R|SHROOM3_uc003hkf.1_Missense_Mutation_p.G588R|SHROOM3_uc003hkg.3_Missense_Mutation_p.G491R NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 713 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TCCTGACCTCGGGAGCCATCT 0.672000 64 61 0 0 1 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839538 27839538 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:27839538C>T uc022bud.1 + 0 115 c.115C>T c.(115-117)Ccc>Tcc p.P39S MAGEB10_uc004dbw.3_Missense_Mutation_p.P39S NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA. 39 p.P39A(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 GGAAGAATCTCCCCCCTCTGC 0.522000 4 17 0 0 1 0 0 ABP1 26 broad.mit.edu 37 7 150556125 150556125 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:150556125C>T uc003why.1 + 3 6063 c.1845C>T c.(1843-1845)atC>atT p.I615I ABP1_uc003whz.1_Silent_p.I615I|ABP1_uc003wia.1_Silent_p.I615I NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 615 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) AGCAGGCCATCACCTGGGCAA 0.642000 9 5 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12726701 12726701 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:12726701C>T uc001auf.3 + 3 1179 c.1179C>T c.(1177-1179)tcC>tcT p.S393S NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. 393 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TCCCATGTTCCCTGAAGATTG 0.483000 19 37 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21231343 21231343 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:21231343G>A uc002red.3 - 25 8525 c.8397C>T c.(8395-8397)tcC>tcT p.S2799S NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2799 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) CTTCTAATTTGGACTCTCCTT 0.438000 33 22 0 0 1 0 0 STMN1 3925 broad.mit.edu 37 1 26230178 26230178 + Missense_Mutation SNP A C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:26230178A>C uc010oev.2 - 2 316 c.140T>G c.(139-141)cTg>cGg p.L47R STMN1_uc001bkz.3_Missense_Mutation_p.L47R|STMN1_uc001blb.3_Missense_Mutation_p.L47R|STMN1_uc001bla.3_Missense_Mutation_p.L47R|STMN1_uc001blc.3_Missense_Mutation_p.L47R NM_001145454 NP_001138926 P16949 STMN1_HUMAN Homo sapiens stathmin 1 (STMN1), transcript variant 4, mRNA. 47 cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus cytoplasm|microtubule signal transducer activity|tubulin binding breast(2)|large_intestine(2)|skin(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649) AATTTCCTCCAGGGAAAGATC 0.448000 108 42 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79094850 79094850 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:79094850G>A uc010dia.3 - 10 2966 c.2886C>T c.(2884-2886)gcC>gcT p.A962A AATK_uc010dhz.3_Intron|AATK_uc021ueu.1_Silent_p.A859A NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA. 962 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCTCCGCAAAGGCCTGGGGCT 0.642000 25 6 0 0 1 0 0 BDKRB1 623 broad.mit.edu 37 14 96730172 96730172 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:96730172C>T uc021sbj.1 + 0 153 c.153C>T c.(151-153)ggC>ggT p.G51G BDKRB1_uc001yfh.3_Silent_p.G51G NM_000710 NP_000701 P46663 BKRB1_HUMAN Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA. 51 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) GTTTCTTCGGCCTCCTAGGGA 0.547000 30 14 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181701924 181701924 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:181701924G>A uc009wxt.3 + 19 2897 c.2702G>A c.(2701-2703)gGa>gAa p.G901E CACNA1E_uc001gow.3_Missense_Mutation_p.G901E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G882E|CACNA1E_uc001gox.1_Missense_Mutation_p.G127E NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 901 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.G901R(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GAGGCAGGGGGAGGAGAGGCT 0.662000 44 23 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142457342 142457342 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142457342C>T uc003wak.2 + 0 24 c.7C>T c.(7-9)Cca>Tca p.P3S TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.P3S|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 3 digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CACCATGAATCCACTCCTGAT 0.572000 90 42 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89039314 89039314 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:89039314C>T uc001xww.3 + 5 1049 c.824C>T c.(823-825)cCg>cTg p.P275L ZC3H14_uc010twd.2_Missense_Mutation_p.P275L|ZC3H14_uc010twe.2_Missense_Mutation_p.P275L|ZC3H14_uc001xwx.3_Missense_Mutation_p.P275L|ZC3H14_uc010twf.2_Missense_Mutation_p.P120L|ZC3H14_uc001xwy.3_Missense_Mutation_p.P241L|ZC3H14_uc010twg.2_Missense_Mutation_p.P120L|ZC3H14_uc001xxa.3_5'Flank NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA. 275 cytoplasm|nuclear speck RNA binding|protein binding|zinc ion binding p.S274S(1) cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 ACGTATAGTCCGTTCTTTAGA 0.393000 38 31 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94048566 94048566 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:94048566G>A uc001ybv.1 + 16 2231 c.2148G>A c.(2146-2148)ctG>ctA p.L716L UNC79_uc001ybs.1_Silent_p.L716L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 893 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CAGACAGCCTGGAGGATAGCC 0.557000 52 18 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15853087 15853087 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:15853087G>A uc010xoq.2 + 0 885 c.885G>A c.(883-885)agG>agA p.R295R NM_013938 NP_039226 O60404 O10H3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA. 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TCAGTCTAAGGAACAAGGAGC 0.438000 97 42 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283082 69283082 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:69283082C>T uc004dxu.1 + 0 742 c.708C>T c.(706-708)atC>atT p.I236I NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN Homo sapiens OTU domain containing 6A (OTUD6A), mRNA. 236 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 TCGAGGTGATCCAGGCCGACT 0.612000 5 19 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7811370 7811370 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:7811370G>A uc011bwk.1 - 8 1298 c.1025C>T c.(1024-1026)tCc>tTc p.S342F AFAP1_uc003gkg.1_Missense_Mutation_p.S342F NM_001134647 NP_001128119 Q8N556 AFAP1_HUMAN Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA. 342 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CTCAGCTGAGGAGGTCTGCTC 0.527000 25 33 0 0 1 0 0 CDK14 5218 broad.mit.edu 37 7 90585122 90585122 + Missense_Mutation SNP C G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:90585122C>G uc003uky.2 + 8 1159 c.937C>G c.(937-939)Ctt>Gtt p.L313V CDK14_uc003ukz.1_Missense_Mutation_p.L295V|CDK14_uc010les.1_Missense_Mutation_p.L267V|CDK14_uc011khl.1_Missense_Mutation_p.L184V NM_012395 NP_036527 O94921 CDK14_HUMAN Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA. 313 Protein kinase. G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 TTCCACCTGCCTTGACATGTG 0.453000 51 23 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39041266 39041266 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:39041266C>T uc002hvl.3 - 0 230 c.172G>A c.(172-174)Gat>Aat p.D58N NM_019010 NP_061883 P35900 K1C20_HUMAN Homo sapiens keratin 20 (KRT20), mRNA. 58 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton p.S57S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) CCTGTGAGATCGCTCCCATAG 0.592000 54 62 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31622000 31622000 + Missense_Mutation SNP T A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:31622000T>A uc010zuc.2 + 2 206 c.206T>A c.(205-207)gTg>gAg p.V69E BPIFB6_uc010zud.2_Missense_Mutation_p.V8E NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA. 69 extracellular region lipid binding AGTTTGAAGGTGAAGGATGTC 0.537000 98 101 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133485235 133485235 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:133485235C>T uc003epu.2 + 16 3172 c.1444C>T c.(1444-1446)Ccc>Tcc p.P482S TF_uc011blt.2_Missense_Mutation_p.P355S|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.P482S NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 482 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CTGGAACATCCCCATGGGCCT 0.537000 120 106 0 0 1 0 0 CLEC2B 9976 broad.mit.edu 37 12 10007084 10007084 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:10007084C>T uc001qwn.3 - 4 895 c.238_splice c.e4-1 p.N80_splice NM_005127 NP_005118 Q92478 CLC2B_HUMAN Homo sapiens C-type lectin domain family 2, member B (CLEC2B), mRNA. 80 C-type lectin. integral to plasma membrane sugar binding endometrium(1)|large_intestine(3)|lung(1) 5 TAAGAAAATTCTTTAGAGACA 0.368000 38 12 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695267 247695267 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:247695267G>A uc021pmb.1 - 0 547 c.547C>T c.(547-549)Ccc>Tcc p.P183S C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.P183S NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P182P(1) breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) ATAATGAGGGGCATCTCGCAA 0.557000 33 8 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237982366 237982366 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:237982366C>T uc001hyl.1 + 100 14584 c.14464C>T c.(14464-14466)Cgt>Tgt p.R4822C RYR2_uc010pyb.1_Missense_Mutation_p.R255C NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4822 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTTGGAGTTCGTGCTGGAGG 0.413000 58 15 0 0 1 0 0 KLK5 25818 broad.mit.edu 37 19 51452217 51452217 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:51452217G>A uc002pue.3 - 4 708 c.490C>T c.(490-492)Cgt>Tgt p.R164C KLK5_uc002puf.3_Missense_Mutation_p.R164C|KLK5_uc002pug.3_Missense_Mutation_p.R164C NM_001077491 NP_036559 Q9Y337 KLK5_HUMAN Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA. 164 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity p.R164C(2) NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) TTAGTGGGACGAATTCTTCTG 0.547000 53 31 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89911136 89911136 + Missense_Mutation SNP G A A rs150474449 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:89911136G>A uc001pdf.4 + 15 1818 c.1709G>A c.(1708-1710)cGa>cAa p.R570Q NAALAD2_uc009yvx.3_Missense_Mutation_p.R537Q|NAALAD2_uc009yvy.3_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 570 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GCTCAATTACGAGGAGCACTG 0.348000 26 36 0 0 1 0 0 ZNF185 7739 broad.mit.edu 37 X 152100320 152100320 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:152100320G>A uc011myg.2 + 13 1067 c.1019_splice c.e13+1 p.R340_splice ZNF185_uc011myi.2_Splice_Site_p.R311_splice|ZNF185_uc011myj.2_Splice_Site_p.R281_splice|ZNF185_uc011myh.2_Splice_Site_p.R311_splice|ZNF185_uc011myk.2_Splice_Site_p.R341_splice|ZNF185_uc010ntv.2_Splice_Site_p.R340_splice|ZNF185_uc004fgw.4_Splice_Site_p.R119_splice|ZNF185_uc004fgu.3_Intron|ZNF185_uc004fgv.3_Splice_Site_p.R37_splice NM_001178106 NP_001171577 O15231 ZN185_HUMAN Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA. 340 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) GATGCTGCAAGGTAACTCAGT 0.572000 1 9 0 0 1 0 0 HMGB4 127540 broad.mit.edu 37 1 34330038 34330038 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:34330038G>A uc021oky.1 + 0 246 c.246G>A c.(244-246)agG>agA p.R82R CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Silent_p.R82R|HMGB4_uc001bxq.3_Silent_p.R8R NM_145205 NP_660206 B2R4X7 B2R4X7_HUMAN Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA. 82 nucleus DNA binding p.K81N(1) NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TTGGCAAGAGGAAGAAACGGA 0.502000 72 52 0 0 1 0 0 C1orf198 84886 broad.mit.edu 37 1 230979413 230979413 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:230979413G>A uc001hub.3 - 2 658 c.614C>T c.(613-615)gCc>gTc p.A205V C1orf198_uc009xfh.2_Missense_Mutation_p.A75V|C1orf198_uc001huc.2_5'UTR|C1orf198_uc001hud.2_Missense_Mutation_p.A167V NM_032800 NP_001129967 Q9H425 CA198_HUMAN Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA. 205 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CTGGAACTCGGCCTCAGGCCC 0.637000 94 33 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152668338 152668338 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:152668338G>A uc021zhb.1 - 70 12157 c.11934C>T c.(11932-11934)gaC>gaT p.D3978D SYNE1_uc003qot.4_Silent_p.D3907D|SYNE1_uc003qou.4_Silent_p.D3978D|SYNE1_uc010kja.2_Silent_p.D683D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 3978 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGTTCAAACGGTCTTCAAAAC 0.378000 HNSCC(10;0.0054) 16 32 0 0 1 0 0 ADD3 120 broad.mit.edu 37 10 111890219 111890219 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:111890219C>T uc001kyu.3 + 12 1863 c.1707C>T c.(1705-1707)atC>atT p.I569I ADD3_uc001kyt.4_Silent_p.I569I|ADD3_uc001kys.4_Silent_p.I569I|ADD3_uc001kyv.3_Silent_p.I569I|ADD3_uc001kyw.3_Silent_p.I569I|ADD3_uc001kyx.3_Silent_p.I142I NM_016824 NP_058432 Q9UEY8 ADDG_HUMAN Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA. 569 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) AGAGGACAATCGAACGTAAAC 0.403000 77 27 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7727622 7727622 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:7727622G>A uc002giu.1 + 75 11676 c.11662_splice c.e75+1 p.G3888_splice DNAH2_uc010cnm.1_Splice_Site_p.G826_splice NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3888 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGTGACTCAGGGTTGGTGTCC 0.617000 20 23 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84183923 84183923 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:84183923G>A uc002fhl.4 + 2 509 c.328G>A c.(328-330)Gat>Aat p.D110N DNAAF1_uc010chi.1_Non-coding_Transcript NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA. 110 Missing (in CILD13). axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 AGCATTGAATGATACGCTGTA 0.368000 28 18 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230950 21230950 + Missense_Mutation SNP T G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:21230950T>G uc002red.3 - 25 8918 c.8790A>C c.(8788-8790)aaA>aaC p.K2930N NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2930 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) GGCAGGCCCATTTCCATGACC 0.473000 63 45 0 0 1 0 0 TLE2 7089 broad.mit.edu 37 19 3019299 3019299 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:3019299C>T uc010dth.3 - 6 798 c.535G>A c.(535-537)Gag>Aag p.E179K TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Missense_Mutation_p.E178K|TLE2_uc010xhc.2_Intron|TLE2_uc010dti.3_Missense_Mutation_p.E192K|TLE2_uc010xhd.1_Intron NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 178 Gly/Pro-rich. Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTCGGCCTCCACGCCCGCA 0.697000 8 3 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298474 107298474 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:107298474G>A uc004bcb.1 - 0 621 c.621C>T c.(619-621)ttC>ttT p.F207F NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TTTCACATGCGAAATGATTGA 0.428000 65 47 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50362591 50362591 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:50362591G>A uc021thx.1 - 8 1236 c.1076C>T c.(1075-1077)cCc>cTc p.P359L BRD7_uc002ege.2_Missense_Mutation_p.P359L NM_013263 NP_037395 Q9NPI1 BRD7_HUMAN Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA. 359 Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) TCCTACAATGGGATCCACAGG 0.418000 48 16 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105261734 105261734 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:105261734G>A uc003yls.3 + 25 3904 c.3663G>A c.(3661-3663)atG>atA p.M1221I RIMS2_uc003ylp.3_Missense_Mutation_p.M1203I|RIMS2_uc003ylw.2_Missense_Mutation_p.M1210I|RIMS2_uc003ylq.3_Missense_Mutation_p.M1017I|RIMS2_uc003ylr.3_Missense_Mutation_p.M1042I NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1265 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGGTAGGAATGATGGACAAAA 0.413000 HNSCC(12;0.0054) 32 24 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35331759 35331759 + Silent SNP G A A rs139407093 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:35331759G>A uc001byc.3 - 9 2865 c.2865C>T c.(2863-2865)tcC>tcT p.S955S NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 955 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TGTGGCGGAAGGAAGCGGCGC 0.746000 18 4 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7660446 7660446 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:7660446G>A uc002giu.1 + 11 1956 c.1942G>A c.(1942-1944)Gag>Aag p.E648K NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 648 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGACTACTGGGAGCGGCTGCT 0.542000 247 91 0 0 1 0 0 L32131 0 broad.mit.edu 37 17 58511493 58511493 + RNA SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:58511493G>A uc002iyr.1 - 0 c.1865C>T Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12. GGCCGATCTTGGGGGCCAGGG 0.572000 9 12 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32202147 32202147 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:32202147C>T uc011alu.2 + 17 1459 c.1257C>T c.(1255-1257)ttC>ttT p.F419F DEPDC5_uc011als.2_Silent_p.F419F|DEPDC5_uc003als.3_Silent_p.F419F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.F419F|DEPDC5_uc003alr.2_Silent_p.F419F|DEPDC5_uc011alt.2_Silent_p.F391F NM_001242896 NP_001229825 O75140 DEPD5_HUMAN Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA. 419 intracellular signal transduction p.F415fs*35(1) breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GTAATAGTTTCACCCCACGAA 0.358000 25 13 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141755423 141755423 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:141755423C>T uc003vwy.3 + 27 3434 c.3380C>T c.(3379-3381)cCc>cTc p.P1127L NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1127 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACCCGCCTTCCCTCCAAGTAC 0.507000 54 35 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709260 176709260 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:176709260C>T uc001gkz.3 + 13 5243 c.4079C>T c.(4078-4080)tCc>tTc p.S1360F PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1360 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTAAGGACATCCTCCCGCATT 0.517000 37 26 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582728 120582728 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:120582728C>T uc001txo.3 - 40 5168 c.5155_splice c.e40+1 p.G1719_splice NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1719 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGCCTTACCCTGTGCAGCGC 0.592000 40 18 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38738238 38738238 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:38738238G>A uc021yzh.1 + 11 1776 c.1667G>A c.(1666-1668)aGg>aAg p.R556K DNAH8_uc003ooe.2_Missense_Mutation_p.R339K NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CATAAAACAAGGAAACTGATT 0.323000 27 14 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:146059041A>G uc003ika.4 - 20 2829 c.2691T>C c.(2689-2691)caT>caC p.H897H NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA. 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 160 4 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200014571 200014571 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:200014571G>A uc001gvb.3 + 4 528 c.322_splice c.e4-1 p.G108_splice NR5A2_uc001gvc.3_Splice_Site_p.G62_splice|NR5A2_uc009wzh.3_Splice_Site_p.G68_splice|NR5A2_uc010pph.2_Splice_Site_p.G36_splice NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 108 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TGTCTTATAGGGATTTTTTAA 0.343000 41 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179442220 179442220 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:179442220G>A uc021vsy.1 - 272 61363 c.61138C>T c.(61138-61140)Ctt>Ttt p.L20380F MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L14075F|TTN_uc021vta.1_Missense_Mutation_p.L14008F|TTN_uc021vtb.1_Missense_Mutation_p.L13883F|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21307 Fibronectin type-III 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGGGATCAAGGACAATTGTT 0.333000 12 6 0 0 1 0 0 BC128131 0 broad.mit.edu 37 19 23159540 23159540 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:23159540G>A uc002nqz.1 - 1 433 c.407C>T c.(406-408)tCc>tTc p.S136F BC128131_uc002nqy.1_Non-coding_Transcript Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371). ACTTTTGTAGGAATTCTCTCT 0.348000 25 7 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17100465 17100465 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:17100465G>A uc002nfb.3 - 12 1556 c.1524C>T c.(1522-1524)tcC>tcT p.S508S NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 461 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GCAGTGGGTGGGAGGGTGGCT 0.612000 35 27 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28544272 28544272 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:28544272C>T uc002hey.4 - 5 1293 c.749G>A c.(748-750)gGc>gAc p.G250D NM_001045 NP_001036 P31645 SC6A4_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA. 250 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CCAGCTGATGCCCCCCAGGTC 0.582000 71 26 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11648316 11648316 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:11648316G>A uc002gne.3 + 30 6382 c.6314G>A c.(6313-6315)cGg>cAg p.R2105Q DNAH9_uc010coo.3_Missense_Mutation_p.R1399Q NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2105 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GATGTCCCCCGGAGGAGAGAC 0.537000 66 21 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599687 29599687 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:29599687G>A uc001usl.4 + 0 940 c.882G>A c.(880-882)ctG>ctA p.L294L NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 284 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGCCTGCTCTGAATTTGACTT 0.517000 23 9 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25781078 25781078 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:25781078G>A uc003cdl.3 - 4 979 c.871C>T c.(871-873)Cga>Tga p.R291* NGLY1_uc010hfg.3_Nonsense_Mutation_p.R291*|NGLY1_uc003cdm.3_Nonsense_Mutation_p.R291*|NGLY1_uc011awo.2_Nonsense_Mutation_p.R249*|NGLY1_uc003cdk.3_Intron NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA. 291 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 CTTGGGAATCGATTGCTGAAC 0.383000 118 44 0 0 1 0 0 C3orf22 152065 broad.mit.edu 37 3 126270845 126270845 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:126270845G>A uc003ejb.3 - 2 539 c.210C>T c.(208-210)gtC>gtT p.V70V NM_152533 NP_689746 Q8N5N4 CC022_HUMAN Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA. 70 large_intestine(1)|lung(3)|ovary(2)|prostate(1) 7 GBM - Glioblastoma multiforme(114;0.147) CTTACCCTCGGACTGGGATGG 0.612000 63 19 0 0 1 0 0 BASP1 10409 broad.mit.edu 37 5 17275866 17275866 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:17275866C>T uc003jfx.3 + 1 720 c.541C>T c.(541-543)Ccc>Tcc p.P181S BASP1_uc021xws.1_Missense_Mutation_p.P181S NM_006317 NP_006308 P80723 BASP1_HUMAN Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA. 181 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 GGAGGCTGCCCCCTCTTCCAA 0.672000 21 14 0 0 1 0 0 SOSTDC1 25928 broad.mit.edu 37 7 16502464 16502464 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:16502464G>A uc003sth.3 - 4 1115 c.402C>T c.(400-402)ctC>ctT p.L134L SOSTDC1_uc003stg.3_Silent_p.L110L NM_015464 NP_056279 Q6X4U4 SOSD1_HUMAN Homo sapiens sclerostin domain containing 1 (SOSTDC1), mRNA. 110 CTCK. Wnt receptor signaling pathway central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2) 6 Lung NSC(10;0.185) UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TCCAGTTAGGGAGCACTGGCA 0.562000 49 22 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34180370 34180370 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:34180370C>T uc001bxm.1 - 20 3400 c.3223G>A c.(3223-3225)Gac>Aac p.D1075N CSMD2_uc001bxn.1_Missense_Mutation_p.D1035N NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1035 Sushi 6. integral to membrane|plasma membrane protein binding p.T1074T(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCTCCAAGTCGTACTCTGGA 0.592000 33 13 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96522588 96522588 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:96522588C>T uc010qnz.2 + 0 126 c.126C>T c.(124-126)atC>atT p.I42I CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 42 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTGGAAATATCCTACAGATAG 0.418000 50 27 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71895931 71895931 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:71895931C>T uc004eax.4 - 5 908 c.607G>A c.(607-609)Gga>Aga p.G203R PHKA1_uc004eay.4_Missense_Mutation_p.G203R|PHKA1_uc011mqi.2_Missense_Mutation_p.G203R NM_002637 NP_002628 P46020 KPB1_HUMAN Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. 203 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TTTGCCATTCCAACTGAACTG 0.418000 9 26 0 0 1 0 0 KCNQ1 3784 broad.mit.edu 37 11 2610036 2610036 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:2610036G>A uc001lwn.3 + 9 1453 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K KCNQ1_uc009ydp.1_Missense_Mutation_p.E233K|KCNQ1_uc001lwo.3_Missense_Mutation_p.E322K NM_000218 NP_000209 P51787 KCNQ1_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA. 449 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) CGACCCCCCAGAAGAGCGGCG 0.562000 17 7 0 0 1 0 0 TBC1D13 54662 broad.mit.edu 37 9 131565650 131565650 + Missense_Mutation SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:131565650A>G uc010myj.3 + 7 788 c.665A>G c.(664-666)aAc>aGc p.N222S TBC1D13_uc010myk.3_Intron|TBC1D13_uc010myl.3_Missense_Mutation_p.N41S NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA. 222 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 GCCAAGCTCAACCCTGGCATC 0.542000 48 18 0 0 1 0 0 MYSM1 114803 broad.mit.edu 37 1 59131237 59131237 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:59131237G>A uc009wab.2 - 16 2121 c.2098C>T c.(2098-2100)Ccc>Tcc p.P700S MYSM1_uc001cza.3_Missense_Mutation_p.P106S|MYSM1_uc001czc.3_Non-coding_Transcript NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA. 700 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) TATGGTAAGGGATTATTTCGA 0.348000 56 20 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25262537 25262537 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:25262537G>A uc010aaa.3 + 3 642 c.309G>A c.(307-309)gaG>gaA p.E103E ATP12A_uc001upp.3_Silent_p.E103E NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 103 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AGACGCCTGAGATCGTCAAGT 0.597000 180 223 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65907493 65907493 + Nonsense_Mutation SNP C T T rs145463211 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:65907493C>T uc002jgf.3 + 10 3554 c.3493C>T c.(3493-3495)Cga>Tga p.R1165* BPTF_uc002jge.3_Nonsense_Mutation_p.R1291* NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 1291 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding p.R1165*(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TCCAAAAGATCGAGTGTTAGA 0.393000 39 11 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150814531 150814531 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:150814531C>T uc003wjg.1 + 3 555 c.552C>T c.(550-552)ccC>ccT p.P184P AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.P184P|AGAP3_uc010lpy.1_Silent_p.P184P|AGAP3_uc003wjh.1_Silent_p.P364P NM_031946 NP_114152 Q96P47 AGAP3_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA. 148 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 AAGGAGGCCCCCCTGAGCTCC 0.612000 58 34 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173873271 173873271 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:173873271C>T uc003isv.3 + 9 1969 c.1233C>T c.(1231-1233)tcC>tcT p.S411S NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA. 411 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GGCATCTCTCCACGGGGGACA 0.557000 60 21 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13438930 13438930 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:13438930G>A uc003bxv.1 - 2 446 c.363C>T c.(361-363)atC>atT p.I121I NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 121 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TGGTGGAGACGATCTGGATGT 0.612000 33 41 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27285068 27285068 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:27285068C>T uc002hdp.2 - 10 2393 c.2199G>A c.(2197-2199)gtG>gtA p.V733V SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.V733V|SEZ6_uc002hdq.1_Silent_p.V608V NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA. 733 Sushi 3. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GGTAAGTGACCACGGTGCCGT 0.607000 81 25 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30530764 30530764 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:30530764G>A uc010gdx.1 + 14 1513 c.1260G>A c.(1258-1260)cgG>cgA p.R420R TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Silent_p.R322R|TTLL9_uc010ztp.1_Non-coding_Transcript NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA. 420 protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCAACGATCGGAAGAAACAAC 0.567000 176 58 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 97484819 97484819 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:97484819G>A uc001vmw.3 + 1 807 c.783G>A c.(781-783)ggG>ggA p.G261G NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA. 261 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TCCAGAGAGGGGCCACTTGGA 0.498000 28 9 0 0 1 0 0 OR1G1 8390 broad.mit.edu 37 17 3029911 3029911 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:3029911G>A uc002fvc.1 - 0 935 c.935C>T c.(934-936)tCc>tTc p.S312F NM_003555 NP_003546 P47890 OR1G1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA. 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 CCACTAAGGGGAATGAATTTT 0.423000 36 45 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152279474 152279474 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:152279474C>T uc002txm.3 + 7 865 c.704C>T c.(703-705)tCa>tTa p.S235L RIF1_uc010fnv.2_Missense_Mutation_p.S199L|RIF1_uc002txn.3_Missense_Mutation_p.S235L|RIF1_uc002txl.3_Missense_Mutation_p.S235L|RIF1_uc002txo.3_Missense_Mutation_p.S235L|RIF1_uc010zby.1_Intron NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA. 235 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AAATTAATCTCAGAACTTCAG 0.308000 22 9 0 0 1 0 0 CTSF 8722 broad.mit.edu 37 11 66333340 66333340 + Missense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:66333340A>T uc001oip.3 - 6 1016 c.926T>A c.(925-927)tTt>tAt p.F309Y NM_003793 NP_003784 Q9UBX1 CATF_HUMAN Homo sapiens cathepsin F (CTSF), mRNA. 309 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CTGGTTGAGAAACCACTGGCC 0.612000 29 30 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22539336 22539336 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:22539336C>T uc001wcy.3 + 1 243 c.232C>T c.(232-234)Ctg>Ttg p.L78L TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209. GCTCATCAACCTGTTTTACAT 0.478000 18 14 0 0 1 0 0 ANGPT4 51378 broad.mit.edu 37 20 870942 870942 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:870942G>A uc002wei.3 - 1 482 c.379C>T c.(379-381)Cag>Tag p.Q127* ANGPT4_uc010zpn.2_Nonsense_Mutation_p.Q121* NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 127 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 GGGGCCGTCTGATTCTGGGCC 0.612000 31 36 0 0 1 0 0 EEF2K 29904 broad.mit.edu 37 16 22278176 22278176 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:22278176C>T uc002dki.3 + 14 2228 c.1743C>T c.(1741-1743)atC>atT p.I581I EEF2K_uc002dkh.3_Non-coding_Transcript NM_013302 NP_037434 O00418 EF2K_HUMAN Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA. 581 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) CTCATCACATCCTAGCCGATG 0.632000 79 38 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91747817 91747817 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:91747817G>A uc010aty.3 - 26 4837 c.4683C>T c.(4681-4683)ccC>ccT p.P1561P CCDC88C_uc001xzj.3_Silent_p.P85P|CCDC88C_uc001xzi.3_5'UTR NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1561 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GCCTGTGGTTGGGGACCTCAA 0.507000 44 20 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 633614 633614 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:633614C>T uc002cho.3 + 9 2401 c.2263C>T c.(2263-2265)Cct>Tct p.P755S PIGQ_uc010bqw.3_3'UTR|PIGQ_uc002chn.3_3'UTR|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Missense_Mutation_p.P325S|PIGQ_uc010uuj.2_Missense_Mutation_p.G58R NM_148920 NP_683721 Q9BRB3 PIGQ_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA. 755 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) GCGGATGTTCCCTGGAGAGGT 0.647000 55 36 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466021 56466022 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:56466021_56466022GG>AA uc002qmh.3 + 2 668_669 c.597_598GG>AA c.(595-600)cagggt>caAAgt p.G200S NLRP8_uc010etg.3_Missense_Mutation_p.G200S NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 200 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AAAGACCCCAGGGTAGACAGCC 0.515000 43 15 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87662904 87662904 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:87662904C>T uc003hpz.3 + 15 2902 c.2422C>T c.(2422-2424)Cac>Tac p.H808Y PTPN13_uc003hpy.3_Missense_Mutation_p.H808Y|PTPN13_uc003hqa.3_Missense_Mutation_p.H808Y|PTPN13_uc003hqb.3_Missense_Mutation_p.H808Y NM_080683 NP_542414 Q12923 PTN13_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA. 808 FERM. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) GTTTGAAGTTCACAATGGAGT 0.393000 14 8 0 0 1 0 0 C19orf18 147685 broad.mit.edu 37 19 58477992 58477992 + Missense_Mutation SNP G A A rs146255633 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:58477992G>A uc002qqv.3 - 3 379 c.277C>T c.(277-279)Cgg>Tgg p.R93W NM_152474 NP_689687 Q8NEA5 CS018_HUMAN Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA. 93 integral to membrane large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) GGTCTATGCCGAATTATTGCT 0.348000 32 17 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139394 142139394 + Silent SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142139394T>C uc003vyt.3 - 1 276 c.231A>G c.(229-231)tcA>tcG p.S77S TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Intron SubName: Full=V_segment translation product; Flags: Fragment; TGGGCAGCCCTGATTTGTCTT 0.547000 54 32 0 0 1 0 0 ANTXR1 84168 broad.mit.edu 37 2 69318037 69318037 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:69318037C>T uc002sfg.3 + 8 1045 c.689C>T c.(688-690)aCc>aTc p.T230I ANTXR1_uc002sfe.3_Missense_Mutation_p.T230I|ANTXR1_uc002sff.3_Missense_Mutation_p.T230I|ANTXR1_uc002sfd.2_Missense_Mutation_p.T230I NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA. 230 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GAACCATCCACCATATGTGCA 0.378000 Familial Infantile Hemangioma 39 22 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136321797 136321797 + Missense_Mutation SNP T G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:136321797T>G uc004cdv.4 + 26 4292 c.3848T>G c.(3847-3849)cTg>cGg p.L1283R ADAMTS13_uc004cdp.4_Missense_Mutation_p.L454R|ADAMTS13_uc004cdt.1_Missense_Mutation_p.L1227R|ADAMTS13_uc004cdu.1_Missense_Mutation_p.L1196R|ADAMTS13_uc004cdw.4_Missense_Mutation_p.L1227R|ADAMTS13_uc004cdx.4_Missense_Mutation_p.L1196R|ADAMTS13_uc004cdz.4_Missense_Mutation_p.L953R|ADAMTS13_uc004cea.1_Missense_Mutation_p.L79R|ADAMTS13_uc004ceb.4_Missense_Mutation_p.L79R NM_139025 NP_620594 Q76LX8 ATS13_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA. 1283 CUB 1. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGTGGGGTGCTGCTGCGGTAT 0.617000 5 4 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569100 61569100 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:61569100C>T uc010xeu.2 + 6 995 c.662C>T c.(661-663)cCt>cTt p.P221L SERPINB2_uc002ljo.3_Missense_Mutation_p.P221L|SERPINB2_uc002ljp.1_Missense_Mutation_p.P26L|SERPINB2_uc002ljq.1_Missense_Mutation_p.P26L NM_001143818 NP_002566 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA. 221 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) GGGCTTTATCCTTTCCGTGTA 0.393000 65 14 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55419021 55419021 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:55419021C>T uc001nhs.1 + 0 642 c.642C>T c.(640-642)atC>atT p.I214I NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA. 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TCTTGCTAATCTCCTACAGCA 0.488000 40 50 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52472016 52472016 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:52472016G>A uc003dea.1 - 13 1709 c.1709C>T c.(1708-1710)gCc>gTc p.A570V NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 570 Ig-like C2-type. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GCACTGCAGGGCAGGGTTGCC 0.697000 28 24 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93845059 93845059 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:93845059G>A uc001pep.2 + 19 3636 c.3479G>A c.(3478-3480)tGa>tAa p.*1160* AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 0 copper ion transport integral to membrane copper ion binding|oxidoreductase activity p.P1159P(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GATGCTCTGTGAACCATCTGG 0.547000 132 140 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140711683 140711683 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140711683G>A uc003lji.2 + 0 1432 c.1432G>A c.(1432-1434)Gac>Aac p.D478N PCDHGC5_uc011dan.2_Missense_Mutation_p.D478N NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 480 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGGCCCACGACTTGGACAG 0.517000 92 79 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42280289 42280289 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:42280289C>T uc021sjp.1 - 15 1789 c.1789G>A c.(1789-1791)Gag>Aag p.E597K PLA2G4E_uc010udc.2_Missense_Mutation_p.E40K|PLA2G4E_uc001zov.2_Missense_Mutation_p.E221K NM_001206670 NP_001193599 Q3MJ16 PA24E_HUMAN Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA. 585 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TGGAAAAACTCCTCCGAGGTG 0.612000 9 5 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573631 140573631 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140573631C>T uc003lix.3 + 0 1680 c.1506C>T c.(1504-1506)tcC>tcT p.S502S NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 502 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTCGCCTCCCTGGTCTCCA 0.677000 168 62 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118375357 118375357 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:118375357C>T uc001pta.3 + 26 8764 c.8741C>T c.(8740-8742)tCt>tTt p.S2914F MLL_uc001ptb.3_Missense_Mutation_p.S2917F NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 2914 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GTCTCTTCCTCTATCTCAGCA 0.478000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 44 115 0 0 1 0 0 EGFL6 25975 broad.mit.edu 37 X 13635872 13635872 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:13635872G>A uc004cvj.3 + 7 1089 c.802G>A c.(802-804)Gaa>Aaa p.E268K EGFL6_uc004cvi.3_Missense_Mutation_p.E268K|EGFL6_uc011mik.1_Missense_Mutation_p.E169K NM_001167890 NP_001161362 Q8IUX8 EGFL6_HUMAN Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA. 268 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 TTCTGTGAAGGAAGTCCTCAG 0.348000 19 60 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42459594 42459594 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:42459594G>A uc001zpd.3 - 13 1559 c.1408C>T c.(1408-1410)Cat>Tat p.H470Y VPS39_uc001zpc.3_Missense_Mutation_p.H459Y|VPS39_uc001zpb.3_5'Flank NM_015289 NP_056104 Q96JC1 VPS39_HUMAN Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA. 470 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity p.H459Y(1) breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) TAACTCACATGGAGATAGCAC 0.527000 35 18 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27173333 27173333 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:27173333G>A uc011lno.2 + 5 1316 c.874G>A c.(874-876)Ggc>Agc p.G292S TEK_uc010mjc.1_Missense_Mutation_p.G145S|TEK_uc011lnn.1_Missense_Mutation_p.G292S|TEK_uc003zqi.4_Missense_Mutation_p.G292S|TEK_uc011lnp.2_Missense_Mutation_p.G188S|TEK_uc003zqj.1_Missense_Mutation_p.G269S NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 292 EGF-like 2. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CTGTGCCACAGGCTGGAAGGG 0.488000 49 23 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115966074 115966074 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:115966074G>A uc001lbg.1 + 10 1522 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K TDRD1_uc001lbf.3_Missense_Mutation_p.E448K|TDRD1_uc001lbh.1_Missense_Mutation_p.E448K|TDRD1_uc001lbi.1_Missense_Mutation_p.E448K|TDRD1_uc010qsc.2_Missense_Mutation_p.E118K|TDRD1_uc001lbj.3_Missense_Mutation_p.E166K NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN Homo sapiens tudor domain containing 1 (TDRD1), mRNA. 457 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TTCTAAGAAGGAAAATGCAGA 0.363000 21 11 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40810394 40810395 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:40810394_40810395GG>AA uc003gvj.4 + 11 2090_2091 c.1595_1596GG>AA c.(1594-1596)ggg>gAA p.G532E NSUN7_uc003gvi.4_3'UTR NM_024677 NP_078953 Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA. NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 CTGCTGGATGGGATTGAGTTGG 0.421000 37 22 0 0 1 0 0 ENO2 2026 broad.mit.edu 37 12 7028903 7028903 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:7028903C>T uc001qru.1 + 7 1063 c.841C>T c.(841-843)Cag>Tag p.Q281* ENO2_uc009zfi.1_Nonsense_Mutation_p.Q281*|ENO2_uc010sfq.1_Nonsense_Mutation_p.Q238*|ENO2_uc001qrv.1_Nonsense_Mutation_p.Q281* NM_001975 NP_001966 P09104 ENOG_HUMAN Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA. 281 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 GGCACTCTACCAGGACTTTGT 0.557000 39 25 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173259 207173259 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:207173259C>T uc002vbp.2 + 4 4257 c.4007C>T c.(4006-4008)cCt>cTt p.P1336L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 1336 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCAAATATCCCTCTTCAGTCA 0.373000 28 11 0 0 1 0 0 FBXO31 79791 broad.mit.edu 37 16 87367551 87367551 + Silent SNP G A A rs139174683 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:87367551G>A uc002fjw.3 - 7 1382 c.1338C>T c.(1336-1338)ttC>ttT p.F446F FBXO31_uc010vot.2_Silent_p.F274F|FBXO31_uc002fjv.3_Silent_p.F338F NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN Homo sapiens F-box protein 31 (FBXO31), mRNA. 446 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) CGGGCAGCACGAACGGCTGCC 0.677000 26 22 0 0 1 0 0 GPR55 9290 broad.mit.edu 37 2 231774973 231774973 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:231774973G>A uc021vxz.1 - 0 705 c.705C>T c.(703-705)ttC>ttT p.F235F GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Silent_p.F235F|GPR55_uc010fxs.1_Silent_p.F235F NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA. 235 activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) AGGAGACCACGAAGACAGCCA 0.587000 40 30 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 106016278 106016278 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:106016278C>T uc004eml.3 + 1 870 c.620C>T c.(619-621)tCa>tTa p.S207L RNF128_uc004emk.3_Missense_Mutation_p.S181L NM_194463 NP_919445 Q8TEB7 RN128_HUMAN Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA. 207 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 AATCACTATTCAATTTTTTTC 0.388000 21 29 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113283325 113283325 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:113283325G>A uc001pnz.3 - 5 1412 c.1091C>T c.(1090-1092)tCc>tTc p.S364F DRD2_uc010rwv.2_Missense_Mutation_p.S363F|DRD2_uc001poa.4_Missense_Mutation_p.S364F|DRD2_uc001pob.4_Missense_Mutation_p.S335F NM_000795 NP_000786 P14416 DRD2_HUMAN Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA. 364 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.S364F(6) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CTTCTGCTGGGAGAGCTTCCT 0.572000 11 42 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154396923 154396923 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:154396923C>T uc010jih.1 + 0 3664 c.3504C>T c.(3502-3504)atC>atT p.I1168I NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 1168 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATAGCAAGATCCTGAAAGAGA 0.527000 42 48 0 0 1 0 0 HDAC11 79885 broad.mit.edu 37 3 13546028 13546028 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:13546028C>T uc003bxy.3 + 9 1022 c.889C>T c.(889-891)Ctt>Ttt p.L297F HDAC11_uc010heb.3_3'UTR|HDAC11_uc011aux.2_Missense_Mutation_p.L105F|HDAC11_uc011auy.2_Missense_Mutation_p.L246F NM_024827 NP_079103 Q96DB2 HDA11_HUMAN Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA. 297 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 GGTGCCCATCCTTATGGTGAC 0.612000 47 49 0 0 1 0 0 DYNLRB2 83657 broad.mit.edu 37 16 80584431 80584431 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:80584431C>T uc002ffo.3 + 3 387 c.267C>T c.(265-267)atC>atT p.I89I DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript NM_130897 NP_570967 Q8TF09 DLRB2_HUMAN Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA. 89 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity large_intestine(1)|lung(4)|prostate(1) 6 ATCTTCTGATCGTCATTCAGA 0.353000 64 37 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136535833 136535833 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:136535833G>A uc004cep.4 - 18 2502 c.2368C>T c.(2368-2370)Ccc>Tcc p.P790S SARDH_uc004ceo.3_Missense_Mutation_p.P790S|SARDH_uc011mdo.2_Missense_Mutation_p.P622S|SARDH_uc011mdn.2_Missense_Mutation_p.P790S|SARDH_uc004cen.3_Missense_Mutation_p.P218S NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 790 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GCCTCCAGGGGGCTGTCGTCT 0.706000 6 5 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94639802 94639802 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:94639802C>T uc001dqj.4 - 22 3778 c.3409G>A c.(3409-3411)Gag>Aag p.E1137K ARHGAP29_uc009wdq.1_Intron NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 1137 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCAGATGCCTCTCTCACTGAC 0.493000 49 61 0 0 1 0 0 SFXN5 94097 broad.mit.edu 37 2 73228693 73228693 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:73228693G>A uc002siq.3 - 6 503 c.372C>T c.(370-372)ctC>ctT p.L124L SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Silent_p.L16L|SFXN5_uc010yrc.2_5'UTR|SFXN5_uc010fet.3_Silent_p.L124L NM_144579 NP_653180 Q8TD22 SFXN5_HUMAN Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA. 124 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 GGTTGGGCAAGAGAAGACCGA 0.478000 34 14 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32496853 32496853 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:32496853G>A uc002yow.1 - 27 4765 c.4293C>T c.(4291-4293)gcC>gcT p.A1431A TIAM1_uc011adk.1_Silent_p.A1431A|TIAM1_uc011adl.1_Silent_p.A1371A NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 1431 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CCCTGCTCATGGCCGGCCTGG 0.562000 65 34 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42784475 42784475 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:42784475G>A uc003cly.4 - 7 984 c.900C>T c.(898-900)gtC>gtT p.V300V NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA. 300 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GGTCTGGATAGACAGACAACT 0.552000 94 116 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81199444 81199444 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:81199444C>T uc002fgh.1 - 19 3218 c.3218_splice c.e19+1 p.R1073_splice PKD1L2_uc002fgg.1_Splice_Site NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1073 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGGTTTGTACCTGTTTGTGTA 0.582000 20 15 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228538619 228538619 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:228538619G>A uc009xez.1 + 76 18438 c.18394G>A c.(18394-18396)Gaa>Aaa p.E6132K OBSCN_uc001hsn.3_Missense_Mutation_p.E6132K|OBSCN_uc001hsr.1_Missense_Mutation_p.E761K|OBSCN_uc009xfa.3_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 6132 Ig-like 53. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGCACCATCGAAGGCGCCCC 0.677000 28 32 0 0 1 0 0 FAM19A4 151647 broad.mit.edu 37 3 68788334 68788334 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:68788334C>T uc021xag.1 - 4 796 c.303G>A c.(301-303)caG>caA p.Q101Q FAM19A4_uc021xah.1_Silent_p.Q101Q NM_182522 NP_872328 Q96LR4 F19A4_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA. 101 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) ACCACCATTTCTGAATCACAA 0.398000 108 26 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118974146 118974146 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:118974146G>A uc004bjn.3 + 3 2234 c.1853G>A c.(1852-1854)gGa>gAa p.G618E PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.2_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 618 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CCAGGGCCAGGAAATGACACC 0.532000 179 71 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7579526 7579526 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:7579526G>A uc003mxp.1 + 22 3382 c.3103G>A c.(3103-3105)Gaa>Aaa p.E1035K DSP_uc003mxq.1_Missense_Mutation_p.E1035K|DSP_uc021yle.1_Missense_Mutation_p.E1035K NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1035 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TACCAAGATCGAAGTTTTGGA 0.428000 26 22 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108303444 108303444 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:108303444G>A uc001dvk.1 - 9 1033 c.979C>T c.(979-981)Cct>Tct p.P327S VAV3_uc010ouw.1_Missense_Mutation_p.P327S|VAV3_uc001dvl.1_Missense_Mutation_p.P151S|VAV3_uc010oux.1_Missense_Mutation_p.P327S NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA. 327 DH. B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CGTTGCATAGGAACCACAAGC 0.323000 25 38 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110740790 110740790 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:110740790C>T uc009wfq.3 + 11 2369 c.1908C>T c.(1906-1908)ttC>ttT p.F636F NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA. 636 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CTGTGGTGTTCGTCCTGCGGC 0.607000 13 24 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052122 9052122 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:9052122G>A uc003jek.2 - 19 3420 c.2708C>T c.(2707-2709)tCg>tTg p.S903L NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 903 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 AGACCAGTCCGACCACTCCGA 0.592000 18 16 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433383 72433383 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:72433383C>T uc004ebi.3 - 0 1328 c.946G>A c.(946-948)Gat>Aat p.D316N NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 316 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) GGATGGGGATCATAATATGCT 0.383000 15 57 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16060459 16060459 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:16060459C>T uc010xov.2 + 0 642 c.642C>T c.(640-642)ttC>ttT p.F214F NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA. 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 GCTGTTTATTCCTCATCATCC 0.488000 155 72 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71318539 71318539 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:71318539C>T uc001dfk.1 - 3 1339 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K PTGER3_uc001dfg.1_3'UTR|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.E361K NM_198716 NP_942009 P43115 PE2R3_HUMAN Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA. 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) CCCCAAAATTCCTCCTGGAAA 0.323000 108 122 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004679 74004679 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:74004679C>T uc010wss.1 - 21 4901 c.4673G>A c.(4672-4674)cGg>cAg p.R1558Q EVPL_uc002jqi.2_Missense_Mutation_p.R1536Q|EVPL_uc010wst.1_Missense_Mutation_p.R1006Q NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1536 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CACGCGGGCCCGCTCATCTTC 0.657000 27 27 0 0 1 0 0 MDH2 4191 broad.mit.edu 37 7 75695710 75695710 + Silent SNP C T T rs146761624 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:75695710C>T uc003ueo.3 + 8 1085 c.999C>T c.(997-999)ttC>ttT p.F333F MDH2_uc011kgh.2_Silent_p.F291F|MDH2_uc003uep.3_Silent_p.F226F NM_005918 NP_005909 P40926 MDHM_HUMAN Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA. 333 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane L-malate dehydrogenase activity|binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) GGGAAGATTTCGTGAAGACCC 0.493000 18 8 0 0 1 0 0 SSX8 280659 broad.mit.edu 37 X 52659424 52659424 + RNA SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:52659424G>A uc011moa.1 + 6 c.921G>A SSX8_uc011mob.1_Non-coding_Transcript Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA. CCCGGGAAAAGCAAATACTTC 0.493000 15 46 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8160318 8160318 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:8160318G>A uc002mjf.3 - 44 5743 c.5726C>T c.(5725-5727)tCc>tTc p.S1909F NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1909 EGF-like 30; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCAGTGGAAGGAACCAGCTGT 0.572000 42 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049915 9049915 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:9049915G>A uc002mkp.3 - 4 31920 c.31716C>T c.(31714-31716)gtC>gtT p.V10572V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10574 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGAACGAGAGACCAGTGAGG 0.498000 34 14 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39768561 39768561 + Missense_Mutation SNP C A A rs57424749 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:39768561C>A uc002hxg.4 - 0 519 c.380G>T c.(379-381)cGc>cTc p.R127L JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.R127L NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 127 Coil 1A.|Rod. R -> C (in FNEPPK; dbSNP:rs59856285).|R -> P (in PC1; dbSNP:rs57424749). cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) GGAGGCCAGGCGGTCATTGAG 0.607000 92 26 5.34276e-22 5.39849e-22 1 1 0 NUP210 23225 broad.mit.edu 37 3 13407591 13407591 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:13407591C>T uc003bxv.1 - 14 1870 c.1787_splice c.e14-1 p.G596_splice NUP210_uc003bxx.3_Splice_Site_p.G268_splice NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 596 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CGGCAGCCTCCCTACAGAAAG 0.557000 15 17 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67416106 67416106 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:67416106G>A uc002esv.3 + 12 2020 c.2001G>A c.(1999-2001)ctG>ctA p.L667L LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc002esx.3_Silent_p.L546L|LRRC36_uc010vjk.2_Silent_p.L442L|LRRC36_uc010vjl.2_Silent_p.L139L NM_018296 NP_060766 Q1X8D7 LRC36_HUMAN Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA. 667 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) TTGCCCAGCTGAAAAAGCTGG 0.473000 24 14 0 0 1 0 0 MAP4K2 5871 broad.mit.edu 37 11 64559739 64559739 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:64559739G>A uc001obh.3 - 25 1911 c.1819C>T c.(1819-1821)Ccc>Tcc p.P607S MAP4K2_uc001obi.3_Missense_Mutation_p.P599S NM_004579 NP_004570 Q12851 M4K2_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA. 607 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting Golgi membrane|basolateral plasma membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 CCCGTGTAGGGGTTCCGCACT 0.697000 16 15 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16531317 16531317 + Missense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:16531317A>T uc001ayc.1 - 11 1981 c.1844T>A c.(1843-1845)cTg>cAg p.L615Q ARHGEF19_uc009voo.1_5'UTR NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA. 615 PH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CTTGCTGGACAGCTTCAGCTT 0.597000 4 10 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160111091 160111091 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:160111091G>A uc001fvc.3 + 22 3174 c.3042G>A c.(3040-3042)gtG>gtA p.V1014V ATP1A2_uc001fvd.3_Silent_p.V733V NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 1014 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) CAGGCTGGGTGGAGAAGGAGA 0.527000 67 17 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143021572 143021572 + Silent SNP G T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:143021572G>T uc003wcr.1 + 6 927 c.840G>T c.(838-840)ggG>ggT p.G280G CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Intron NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 280 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GTTGTTTTGGGACACCACTTG 0.527000 40 20 7.45023e-12 7.48112e-12 1 1 0 AAMP 14 broad.mit.edu 37 2 219130370 219130370 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:219130370G>A uc002vhl.3 - 7 1002 c.918C>T c.(916-918)tcC>tcT p.S306S AAMP_uc002vhk.3_Silent_p.S305S NM_001087 NP_001078 Q13685 AAMP_HUMAN Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA. 305 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCTGGGCTGGGAGGCCACAG 0.577000 45 36 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24878920 24878920 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:24878920C>T uc001wpf.4 + 3 2238 c.1920C>T c.(1918-1920)ccC>ccT p.P640P NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 640 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CTGCAGGTCCCAAAACACCCA 0.527000 8 5 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4537959 4537959 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:4537959G>A uc002mau.3 - 1 1048 c.1037C>T c.(1036-1038)tCc>tTc p.S346F PLIN5_uc002mas.3_5'Flank|PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA. 346 LRRCT. extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GTCTCACTGGGACTTGGCCAC 0.597000 9 10 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133218418 133218418 + Silent SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:133218418A>T uc001uks.1 - 38 5237 c.5193T>A c.(5191-5193)ctT>ctA p.L1731L POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.L535L|POLE_uc010tbq.1_Non-coding_Transcript NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 1731 DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCAGGTTCTGAAGGTCCAGCT 0.617000 DNA polymerases (catalytic subunits) 54 25 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53823400 53823400 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:53823400C>T uc001scx.2 + 7 1211 c.1131C>T c.(1129-1131)gcC>gcT p.A377A AMHR2_uc009zmy.2_Silent_p.A377A|AMHR2_uc021qyg.1_Silent_p.A377A NM_020547 NP_065434 Q16671 AMHR2_HUMAN Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA. 377 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) GCCCAGCTGCCATCATGGAAG 0.562000 13 8 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542726 28542726 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:28542726G>A uc003nlo.3 - 2 2374 c.1756C>T c.(1756-1758)Cct>Tct p.P586S NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 586 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 GCCACCTTAGGAGTGACAGAA 0.378000 27 22 0 0 1 0 0 SLC29A2 3177 broad.mit.edu 37 11 66136998 66136998 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:66136998G>A uc001oht.3 - 2 346 c.117C>T c.(115-117)ttC>ttT p.F39F SLC29A2_uc009yrf.3_5'UTR|SLC29A2_uc001ohu.3_Silent_p.F39F|SLC29A2_uc001ohv.3_Silent_p.F39F|AX747485_uc001ohw.1_Non-coding_Transcript NM_001532 NP_001523 Q14542 S29A2_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA. 39 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 GTCGCGCCTGGAAGTACTGCC 0.617000 205 75 0 0 1 0 0 ABCA11P 79963 broad.mit.edu 37 4 437846 437846 + Missense_Mutation SNP T A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:437846T>A uc003gaf.4 - 2 732 c.506A>T c.(505-507)tAc>tTc p.Y169F ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.Y137F|ABCA11P_uc010ibe.3_Missense_Mutation_p.Y125F NM_133474 NP_597731 Homo sapiens zinc finger protein 721 (ZNF721), mRNA. TTCACAAGTGTAGGGTTTCTC 0.388000 118 49 0 0 1 0 0 ZNF833P 401898 broad.mit.edu 37 19 11796607 11796607 + Missense_Mutation SNP T G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:11796607T>G uc021upi.1 + 2 1223 c.547T>G c.(547-549)Tct>Gct p.S183A ZNF833P_uc002msl.4_Non-coding_Transcript Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA. endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 CTTCAGTAGTTCTAAGTACTT 0.393000 36 31 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116756873 116756873 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:116756873C>T uc011ebg.2 + 5 1398 c.1299C>T c.(1297-1299)ttC>ttT p.F433F DSE_uc003pws.3_Silent_p.F414F|DSE_uc003pwt.3_Silent_p.F414F|DSE_uc003pwu.3_Silent_p.F81F NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 414 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity p.S416fs*12(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) ATAGATCTTTCCTTTCCTTCA 0.418000 9 31 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284741 223284741 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:223284741C>T uc021pjl.1 - 0 1633 c.1633G>A c.(1633-1635)Gat>Aat p.D545N TLR5_uc001hnv.2_Missense_Mutation_p.D545N|TLR5_uc001hnw.2_Missense_Mutation_p.D545N NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 545 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GCAGGTAAATCATTGTGAGAA 0.413000 61 52 0 0 1 0 0 CCDC61 729440 broad.mit.edu 37 19 46521385 46521385 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:46521385C>T uc002pdw.3 + 13 1475 c.1475C>T c.(1474-1476)tCc>tTc p.S492F CCDC61_uc021uwd.1_Missense_Mutation_p.S293F|MIR769_uc021uwe.1_5'Flank NM_001080402 NP_001073871 Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA. p.S492S(1) endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) CTGGCCAACTCCGGGGGCTGG 0.607000 7 7 0 0 1 0 0 PTN 5764 broad.mit.edu 37 7 136938237 136938237 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:136938237G>A uc003vtq.2 - 2 626 c.263C>T c.(262-264)cCc>cTc p.P88L NM_002825 NP_002816 P21246 PTN_HUMAN Homo sapiens pleiotrophin (PTN), mRNA. 88 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 CCAGTTGCAGGGGATCTTACA 0.488000 68 29 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5842093 5842093 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:5842093C>T uc010qzp.2 + 0 528 c.528C>T c.(526-528)atC>atT p.I176I TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAACTTCATCCCCCACACCT 0.517000 75 88 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58893163 58893163 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:58893163C>T uc001nnl.3 + 3 1836 c.1593C>T c.(1591-1593)tcC>tcT p.S531S FAM111B_uc001nnm.3_Silent_p.S501S|FAM111B_uc010rko.2_Silent_p.S501S|FAM111B_uc021qjn.1_Silent_p.S501S NM_198947 NP_001136176 Q6SJ93 F111B_HUMAN Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA. 531 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 ATTGGTTTTCCATTGAGCCAT 0.388000 50 68 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135487867 135487867 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:135487867G>A uc004ezu.1 + 22 8962 c.8671G>A c.(8671-8673)Gat>Aat p.D2891N GPR112_uc010nsb.1_Missense_Mutation_p.D2686N NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2891 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GATTAAAGATGATTCTATCTT 0.343000 5 13 0 0 1 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58009767 58009767 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:58009767C>T uc001spb.3 + 12 1847 c.1387C>T c.(1387-1389)Cag>Tag p.Q463* ARHGEF25_uc009zpy.3_Nonsense_Mutation_p.Q502*|ARHGEF25_uc001spa.3_Nonsense_Mutation_p.Q357*|BC073932_uc001spc.3_Intron NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA. 463 PH. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 GCATGTGGCTCAGATCTTGGA 0.572000 92 52 0 0 1 0 0 KRTAP8-1 337879 broad.mit.edu 37 21 32185366 32185366 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:32185366G>A uc002you.3 - 0 205 c.173C>T c.(172-174)tCg>tTg p.S58L NM_175857 NP_787053 Q8IUC2 KRA81_HUMAN Homo sapiens keratin associated protein 8-1 (KRTAP8-1), mRNA. 58 intermediate filament central_nervous_system(1)|large_intestine(1)|lung(4) 6 AGCAAATGGCGAGTATCTCCT 0.557000 82 30 0 0 1 0 0 TMEM151A 256472 broad.mit.edu 37 11 66062051 66062051 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:66062051C>T uc001ohl.3 + 1 446 c.334C>T c.(334-336)Ctc>Ttc p.L112F NM_153266 NP_694998 Q8N4L1 T151A_HUMAN Homo sapiens transmembrane protein 151A (TMEM151A), mRNA. 112 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 CCTCTACCTCCTCTACCTGGC 0.721000 24 21 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63477162 63477162 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:63477162G>A uc002lkb.3 + 2 859 c.433G>A c.(433-435)Gat>Aat p.D145N CDH7_uc002ljz.3_Missense_Mutation_p.D145N|CDH7_uc002lka.3_Missense_Mutation_p.D145N NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 145 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CAAAATTCAGGATATCAACGA 0.507000 176 40 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3150291 3150291 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:3150291G>A uc001lxk.2 - 1 246 c.88C>T c.(88-90)Cgg>Tgg p.R30W OSBPL5_uc010qxq.1_5'Flank|OSBPL5_uc009ydw.2_Missense_Mutation_p.R30W|OSBPL5_uc001lxl.2_Missense_Mutation_p.R30W|OSBPL5_uc009ydx.3_Missense_Mutation_p.R54W|OSBPL5_uc001lxm.1_Non-coding_Transcript NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA. 30 Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport cytosol oxysterol binding|protein binding p.R30R(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AGCAAGTTCCGGGTGAGCTTC 0.662000 9 3 0 0 1 0 0 CYP21A2 1589 broad.mit.edu 37 6 32008216 32008216 + Missense_Mutation SNP G A A rs150804717 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:32008216G>A uc003nze.2 + 7 1080 c.973G>A c.(973-975)Gaa>Aaa p.E325K CYP21A2_uc003nzf.2_Missense_Mutation_p.E295K NM_000500 NP_000491 P08686 CP21A_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. 324 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 GCTAGACCACGAACTGGGCCC 0.682000 51 22 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674812 71674812 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:71674812G>A uc002fau.3 + 2 1178 c.1115G>A c.(1114-1116)gGc>gAc p.G372D PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA. 375 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) ATCATGTACGGCGCCAGCGTG 0.597000 26 9 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109031524 109031524 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:109031524C>T uc003dxo.3 - 2 296 c.49G>A c.(49-51)Gaa>Aaa p.E17K NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA. 17 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCATCTACTTCCCCCTCCAAG 0.398000 102 37 0 0 1 0 0 ZNF286A 57335 broad.mit.edu 37 17 15604484 15604484 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:15604484C>T uc010cot.3 + 2 452 c.56C>T c.(55-57)tCt>tTt p.S19F ZNF286A_uc002goz.4_5'UTR|ZNF286A_uc010vwa.2_Missense_Mutation_p.S19F|ZNF286A_uc002gpa.3_Missense_Mutation_p.S19F NM_001130842 NP_065703 Q9HBT8 Z286A_HUMAN Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA. 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S19S(1) central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) TCCCAGGATTCTCCCCATTTC 0.473000 368 73 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121650527 121650527 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:121650527C>T uc003eep.2 + 18 1859 c.1706C>T c.(1705-1707)tCt>tTt p.S569F SLC15A2_uc011bjn.1_Missense_Mutation_p.S538F NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 569 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding p.S569Y(2) NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AAGAACTTTTCTCTGAATTTG 0.388000 19 14 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129383 152129383 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:152129383G>A uc001ezs.1 - 2 257 c.192C>T c.(190-192)gaC>gaT p.D64D NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 64 EF-hand 2.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GTCCATCTCGGTCTTGATCTA 0.428000 58 65 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30819689 30819689 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:30819689G>A uc003cep.2 - 13 1421 c.1374C>T c.(1372-1374)ttC>ttT p.F458F NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA. 458 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) GTTTTGCCCAGAACTCGGGTC 0.343000 38 39 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89906553 89906553 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:89906553G>A uc010lep.3 + 10 1311 c.1060G>A c.(1060-1062)Gga>Aga p.G354R C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Missense_Mutation_p.G29R|C7orf63_uc011khj.2_Missense_Mutation_p.G336R|C7orf63_uc011khk.2_5'Flank NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA. 354 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TTTGGTAAAAGGACTTAAGCT 0.269000 14 3 0 0 1 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95518946 95518946 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:95518946C>T uc010fhp.3 - 3 c.398_splice c.e3+1 Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 TTGATCTATACCTTGTCCAGT 0.403000 87 35 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2152832 2152832 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:2152832G>A uc002cos.1 - 23 9140 c.8931C>T c.(8929-8931)acC>acT p.T2977T TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.T2977T|PKD1_uc010bse.1_Non-coding_Transcript NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 2977 T -> N. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AAATGAAGAAGGTGTAGGGCC 0.652000 35 22 0 0 1 0 0 DYTN 391475 broad.mit.edu 37 2 207572058 207572058 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:207572058G>A uc002vbr.1 - 2 381 c.264C>T c.(262-264)ctC>ctT p.L88L NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN Homo sapiens dystrotelin (DYTN), mRNA. 88 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GGCTCAGAGTGAGTTCCGGAG 0.512000 10 5 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114186546 114186546 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:114186546G>A uc001kzu.3 + 20 2120 c.2008_splice c.e20-1 p.V670_splice ACSL5_uc001kzs.3_Splice_Site_p.V614_splice|ACSL5_uc001kzt.3_Splice_Site_p.V614_splice|ACSL5_uc009xxz.3_Intron|ACSL5_uc010qrj.2_Splice_Site_p.V396_splice NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 614 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GTATTCTTAGGTTGTAAGGGA 0.408000 37 12 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128193 152128193 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:152128193G>A uc001ezs.1 - 2 1447 c.1382C>T c.(1381-1383)tCc>tTc p.S461F NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 461 Gln-rich. proteinaceous extracellular matrix calcium ion binding p.S461S(1) breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACCATAGTGGGAACTCTGGCC 0.517000 398 448 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31887706 31887706 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:31887706C>T uc003tcm.2 - 8 1317 c.856G>A c.(856-858)Gat>Aat p.D286N PDE1C_uc003tcn.1_Missense_Mutation_p.D286N|PDE1C_uc003tco.2_Missense_Mutation_p.D346N|PDE1C_uc003tcr.3_Missense_Mutation_p.D286N|PDE1C_uc003tcs.3_Missense_Mutation_p.D286N NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 286 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ATAGCTGGATCAGACCTGAAC 0.388000 42 27 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903317 5903317 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:5903317G>A uc002wmg.3 + 3 833 c.527G>A c.(526-528)gGg>gAg p.G176E CHGB_uc010zqz.2_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 176 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 TATCAAAAAGGGGAGCGAGGG 0.488000 33 31 0 0 1 0 0 TAAR2 9287 broad.mit.edu 37 6 132939105 132939105 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:132939105G>A uc003qdl.1 - 1 240 c.240C>T c.(238-240)ttC>ttT p.F80F TAAR2_uc010kfr.1_Silent_p.F35F NM_001033080 NP_055441 Q9P1P5 TAAR2_HUMAN Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA. 80 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) AGAGGATGAGGAAGTTGGTTG 0.423000 31 69 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159778089 159778089 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:159778089C>T uc001fud.4 + 2 216 c.174C>T c.(172-174)ttC>ttT p.F58F FCRL6_uc010pix.1_Silent_p.F53F|FCRL6_uc001fuc.2_Silent_p.F65F|FCRL6_uc009wsz.1_Silent_p.F58F|FCRL6_uc009wta.3_Silent_p.F58F NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 58 Ig-like C2-type 1. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) ATGGAAAATTCCTTCATTTCT 0.502000 13 29 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155239621 155239621 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:155239621C>T uc004fnv.1 + 8 1292 c.1113C>T c.(1111-1113)gcC>gcT p.A371A IL9R_uc004fnu.1_3'UTR NM_002186 NP_002177 Q01113 IL9R_HUMAN Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA. 371 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AATCTGTGGCCCTGGAGGAGG 0.657000 54 19 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52863032 52863032 + Silent SNP G A A rs139360268 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:52863032G>A uc001sal.4 - 8 1557 c.1509C>T c.(1507-1509)gtC>gtT p.V503V NM_173086 NP_775109 P48668 K2C6C_HUMAN Homo sapiens keratin 6C (KRT6C), mRNA. 503 Tail. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) AGCCACTGCCGACACCGCTGG 0.602000 22 12 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38082197 38082197 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:38082197C>T uc001cbl.2 - 4 1137 c.245G>A c.(244-246)gGa>gAa p.G82E RSPO1_uc009vvf.2_Missense_Mutation_p.G55E|RSPO1_uc001cbm.2_Missense_Mutation_p.G82E|RSPO1_uc009vvg.2_Missense_Mutation_p.G82E NM_001038633 NP_001229837 Q2MKA7 RSPO1_HUMAN Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA. 82 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTCGAAGTATCCAGGTGGGCA 0.617000 60 38 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78516398 78516398 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:78516398G>A uc001ozl.4 - 14 2581 c.2118C>T c.(2116-2118)ttC>ttT p.F706F NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 706 EGF-like 5. signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 TGTCCGGGAGGAAGGTTCCGT 0.607000 13 22 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9438100 9438100 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:9438100C>T uc021wam.1 + 29 3015 c.3000C>T c.(2998-3000)atC>atT p.I1000I PLCB4_uc010gbw.1_Silent_p.I1000I|PLCB4_uc010gbx.3_Silent_p.I1012I|PLCB4_uc021wal.1_Silent_p.I1000I|PLCB4_uc002wnh.3_Silent_p.I847I NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 1000 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AAACAGAAATCAAAATTCAGA 0.358000 23 46 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024152 55024152 + Missense_Mutation SNP T G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:55024152T>G uc002lgn.3 + 2 668 c.311T>G c.(310-312)aTt>aGt p.I104S NM_015879 NP_056963 O43173 SIA8C_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA. 104 N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.E103K(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) AGGCAAGAAATTCTTCAGCAT 0.318000 34 14 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55639005 55639005 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:55639005C>T uc003pcq.3 - 3 1581 c.869G>A c.(868-870)gGa>gAa p.G290E BMP5_uc011dxf.2_Missense_Mutation_p.G290E NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 290 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TCCCTGTCTTCCCACAAGACC 0.423000 46 33 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588661 140588661 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140588661C>T uc003liz.3 + 0 371 c.182C>T c.(181-183)tCg>tTg p.S61L PCDHB12_uc011dak.2_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 61 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.S61S(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCTGTCTTCGCGGGGGGCT 0.507000 103 26 0 0 1 0 0 NR3C1 2908 broad.mit.edu 37 5 142680139 142680139 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:142680139G>A uc003lnd.3 - 4 2652 c.1658C>T c.(1657-1659)cCa>cTa p.P553L NR3C1_uc003lmy.3_Missense_Mutation_p.P554L|NR3C1_uc003lmz.3_Missense_Mutation_p.P218L|NR3C1_uc003lna.3_Missense_Mutation_p.P553L|NR3C1_uc003lnb.3_Missense_Mutation_p.P553L|NR3C1_uc011dbk.2_Missense_Mutation_p.P156L|NR3C1_uc003lnf.3_Missense_Mutation_p.P554L|NR3C1_uc003lne.3_Missense_Mutation_p.P553L|NR3C1_uc003lnc.3_Missense_Mutation_p.P553L|NR3C1_uc021yfa.1_Missense_Mutation_p.P553L|NR3C1_uc021yfb.1_Missense_Mutation_p.P553L NM_001018077 NP_001191193 P04150 GCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA. 553 Steroid-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) AGTTGAGTCTGGAACAGAGCT 0.468000 237 78 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78078436 78078437 + Missense_Mutation DNP CC TA TA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:78078436_78078437CC>TA uc002jxp.3 + 1 418_419 c.51_52CC>TA c.(49-54)gccctc>gcTAtc p.L18I GAA_uc002jxo.3_Missense_Mutation_p.L18I|GAA_uc002jxq.3_Missense_Mutation_p.L18I NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 18 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CCGTCTGCGCCCTCGTGTCCTT 0.649000 40 15 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49362198 49362198 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:49362198G>A uc002pkx.3 - 7 1442 c.891C>T c.(889-891)ccC>ccT p.P297P PLEKHA4_uc010eml.3_Silent_p.P297P NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA. 297 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GTCCTCGGCGGGGAGTAGGGG 0.662000 50 22 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534016 55534016 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:55534016C>T uc003xsd.1 + 1 638 c.490C>T c.(490-492)Ccg>Tcg p.P164S RP1_uc011ldy.1_Missense_Mutation_p.P164S NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 164 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GAATGGCGACCCGAAGACGAG 0.657000 75 66 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35968179 35968179 + Missense_Mutation SNP G A A rs142049781 by1000genomes TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:35968179G>A uc003jjv.2 - 2 446 c.253C>T c.(253-255)Cat>Tat p.H85Y UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.H85Y|UGT3A1_uc011cor.2_Missense_Mutation_p.H51Y|UGT3A1_uc003jjy.2_Missense_Mutation_p.H31Y NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 85 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTTTTTGATGATCTTCAGGT 0.308000 44 11 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162849873 162849873 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:162849873C>T uc002ubz.3 - 25 2782 c.2221G>A c.(2221-2223)Gga>Aga p.G741R DPP4_uc010fpb.3_Missense_Mutation_p.G417R NM_001935 NP_001926 P27487 DPP4_HUMAN Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA. 741 T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity p.G741E(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) CTAGCTATTCCATGGTCTTCA 0.353000 65 45 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35800200 35800200 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:35800200G>A uc003jjo.3 + 33 5072 c.4961G>A c.(4960-4962)gGa>gAa p.G1654E SPEF2_uc003jjp.1_Missense_Mutation_p.G1140E|SPEF2_uc003jjr.3_Missense_Mutation_p.G709E NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1654 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTGGCTGTTGGAACTCATGTC 0.483000 143 33 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26866489 26866489 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:26866489G>A uc001zbb.3 - 4 704 c.601C>T c.(601-603)Cct>Tct p.P201S GABRB3_uc021sgg.1_Missense_Mutation_p.P74S|GABRB3_uc021sgh.1_Missense_Mutation_p.P60S|GABRB3_uc001zaz.3_Missense_Mutation_p.P145S|GABRB3_uc001zba.3_Missense_Mutation_p.P145S|GABRB3_uc001zbc.3_Non-coding_Transcript NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 145 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTCCCATCAGGGTGAAGACGG 0.473000 87 41 0 0 1 0 0 MAK 4117 broad.mit.edu 37 6 10802154 10802154 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:10802154C>T uc021ylk.1 - 7 1084 c.802G>A c.(802-804)Gat>Aat p.D268N SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.D268N|MAK_uc021yll.1_Missense_Mutation_p.D268N|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript NM_001242957 NP_001229886 P20794 MAK_HUMAN Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA. 268 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) TTCTTTGGATCCCAATTCAAC 0.388000 OREG0017187 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 82 53 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13770902 13770902 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:13770902G>A uc003jfd.2 - 55 9603 c.9561C>T c.(9559-9561)ttC>ttT p.F3187F DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3187 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTCCATATATGAACTTATAGC 0.458000 Kartagener syndrome 29 16 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595369 55595369 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:55595369C>T uc001nhy.1 + 0 675 c.675C>T c.(673-675)atC>atT p.I225I NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA. 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TCACCACTATCCTGAAGATAC 0.483000 HNSCC(27;0.073) 94 23 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31799634 31799634 + Silent SNP C T T rs146790239 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:31799634C>T uc003jhl.3 + 1 667 c.279C>T c.(277-279)ttC>ttT p.F93F PDZD2_uc003jhm.3_Silent_p.F93F NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 93 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TCCCTGTTTTCGGGGACTATG 0.567000 257 40 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158653172 158653172 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:158653172C>T uc001fst.1 - 2 578 c.379G>A c.(379-381)Gaa>Aaa p.E127K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 127 Missing (in Ref. 3; AAA60575). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTCGTTTCTTCGTGGGCAGAA 0.388000 47 44 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174922 63174922 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:63174922C>T uc001xfx.3 - 10 2322 c.2271G>A c.(2269-2271)caG>caA p.Q757Q KCNH5_uc001xfy.3_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 757 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGGGAGTAATCTGTGACACAG 0.542000 23 11 0 0 1 0 0 KDM4E 390245 broad.mit.edu 37 11 94759477 94759477 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:94759477G>A uc010ruf.1 + 0 1056 c.756G>A c.(754-756)aaG>aaA p.K252K NM_001161630 NP_001155102 B2RXH2 KD4DL_HUMAN Homo sapiens lysine (K)-specific demethylase 4D-like (KDM4DL), mRNA. 252 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(7)|kidney(1)|lung(3) 12 CAGTTCTCAAGGAAAATGGGA 0.552000 27 8 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39495113 39495113 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:39495113G>A uc003xni.3 + 8 773 c.718G>A c.(718-720)Gaa>Aaa p.E240K ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E216K NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 240 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GTGGTCAAATGAAAACCAGAT 0.358000 24 9 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72397146 72397146 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:72397146G>A uc001osu.3 - 33 4465 c.4276C>T c.(4276-4278)Cga>Tga p.R1426* ARAP1_uc001osv.3_Nonsense_Mutation_p.R1415*|ARAP1_uc001osr.3_Nonsense_Mutation_p.R1186*|ARAP1_uc001oss.3_Nonsense_Mutation_p.R1181*|ARAP1_uc009yth.3_Nonsense_Mutation_p.R1109*|ARAP1_uc010rre.2_Nonsense_Mutation_p.R1170* NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 1426 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TCACTACCTCGAAGGGGGATC 0.652000 35 42 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28030318 28030318 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:28030318C>T uc001ity.4 - 2 529 c.304G>A c.(304-306)Gag>Aag p.E102K MKX_uc001itx.4_Missense_Mutation_p.E102K NM_173576 NP_775847 Q8IYA7 MKX_HUMAN Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA. 102 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E102K(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 AGTATCTTCTCGGTCTTGGTG 0.602000 73 38 0 0 1 0 0 CYP46A1 10858 broad.mit.edu 37 14 100173997 100173997 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:100173997C>T uc001ygo.3 + 6 675 c.675C>T c.(673-675)tcC>tcT p.S225S CYP46A1_uc001ygn.1_Silent_p.S187S|CYP46A1_uc001ygp.3_Silent_p.S72S NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA. 225 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) TCACTGCGTCCCGCAACACTC 0.547000 44 26 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88376927 88376927 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:88376927C>T uc001tam.1 - 11 1340 c.1172G>A c.(1171-1173)cGa>cAa p.R391Q NM_152589 NP_689802 Q8NA57 CL050_HUMAN Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA. 391 p.R391Q(2) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 AAAAGGAATTCGTTTTCGCCA 0.264000 43 23 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20480926 20480926 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:20480926G>A uc010bwe.3 + 4 720 c.481G>A c.(481-483)Gat>Aat p.D161N ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.D82N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D161N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D161N|ACSM2A_uc010vay.2_Missense_Mutation_p.D82N NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 161 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TGTTGCTGGGGATGAAGTCAT 0.448000 61 51 0 0 1 0 0 OR51D1 390038 broad.mit.edu 37 11 4661506 4661506 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:4661506G>A uc010qyk.2 + 0 562 c.486G>A c.(484-486)ctG>ctA p.L162L NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA. 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L162P(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TATCTGCCCTGACCAGGGGGT 0.527000 102 118 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138676636 138676636 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:138676636C>T uc011mdq.2 + 26 3131 c.3057C>T c.(3055-3057)atC>atT p.I1019I KCNT1_uc011mdr.2_Silent_p.I846I|KCNT1_uc010nbf.3_Silent_p.I974I|KCNT1_uc004cgo.1_Silent_p.I768I NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 1019 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) ACCTGTGGATCCGCACGTACG 0.632000 36 25 0 0 1 0 0 FGF2 2247 broad.mit.edu 37 4 123813469 123813469 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:123813469G>A uc003iev.1 + 2 853 c.785G>A c.(784-786)cGa>cAa p.R262Q NM_002006 NP_001997 P09038 FGF2_HUMAN Homo sapiens fibroblast growth factor 2 (basic) (FGF2), mRNA. 262 Heparin-binding (By similarity). Ras protein signal transduction|activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|release of sequestered calcium ion into cytosol|wound healing extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 8 Pentosan Polysulfate(DB00686) GCACTGAAACGAACTGGGCAG 0.398000 91 96 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327317 152327317 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:152327317C>T uc001ezw.4 - 2 3018 c.2945G>A c.(2944-2946)gGa>gAa p.G982E AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 982 Ser-rich. calcium ion binding|structural molecule activity p.S981*(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGAGGATTTTCCTGAGCCTGA 0.498000 211 227 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58145077 58145077 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:58145077G>A uc002iyk.1 - 7 973 c.956C>T c.(955-957)tCc>tTc p.S319F HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Missense_Mutation_p.S151F NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. 319 Poly-Lys. binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TTTTACTTTGGATTTTTTCTT 0.388000 32 35 0 0 1 0 0 S100A6 6277 broad.mit.edu 37 1 153507178 153507178 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:153507178C>T uc001fbw.1 - 2 581 c.267G>A c.(265-267)aaG>aaA p.K89K NM_014624 NP_055439 P06703 S10A6_HUMAN Homo sapiens S100 calcium binding protein A6 (S100A6), mRNA. 89 axonogenesis|positive regulation of fibroblast proliferation|signal transduction cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle S100 beta binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|tropomyosin binding ovary(1) 1 all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) ATTTTCAGCCCTTGAGGGCTT 0.468000 35 44 0 0 1 0 0 MAOB 4129 broad.mit.edu 37 X 43662605 43662605 + Missense_Mutation SNP G A A rs149395667 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:43662605G>A uc004dfz.4 - 3 502 c.326C>T c.(325-327)cCa>cTa p.P109L MAOB_uc011mkx.2_Missense_Mutation_p.P93L|MAOB_uc011mky.2_Missense_Mutation_p.P93L NM_000898 NP_000889 P27338 AOFB_HUMAN Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA. 109 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) GTAGGTAATTGGATTCCATAC 0.358000 9 19 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36330225 36330225 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:36330225C>T uc002oby.3 - 21 3179 c.3023G>A c.(3022-3024)aGa>aAa p.R1008K NPHS1_uc010eem.1_Non-coding_Transcript NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 1008 Fibronectin type-III. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GACCCTGTATCTTGTAGAAGG 0.597000 49 34 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46497358 46497358 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:46497358C>T uc003cpq.3 - 3 668 c.427G>A c.(427-429)Gga>Aga p.G143R LTF_uc003fzr.3_Missense_Mutation_p.G99R|LTF_uc010hjh.3_Missense_Mutation_p.G143R|LTF_uc003cpr.3_Missense_Mutation_p.G130R NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 143 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) ACATTCCATCCAGCGGTCCTG 0.557000 30 28 0 0 1 0 0 SLC38A5 92745 broad.mit.edu 37 X 48325351 48325351 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:48325351G>A uc010nid.3 - 4 421 c.243C>T c.(241-243)ttC>ttT p.F81F SLC38A5_uc004djk.4_Silent_p.F30F NM_033518 NP_277053 Q8WUX1 S38A5_HUMAN Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA. 81 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 GGACTCACAGGAAGAAGATGA 0.647000 OREG0019763 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 0 0 1 0 0 DCDC5 100506627 broad.mit.edu 37 11 30953327 30953327 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:30953327C>T uc009yjk.1 - 9 1301 c.1232G>A c.(1231-1233)cGg>cAg p.R411Q DCDC5_uc021qfk.1_Missense_Mutation_p.R70Q|DCDC5_uc009yjl.1_3'UTR NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 42 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 CTGCGTTTTCCGTCCAGGTGA 0.383000 13 7 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166909378 166909378 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:166909378C>T uc002udo.4 - 6 905 c.678G>A c.(676-678)acG>acA p.T226T SCN1A_uc010fpk.3_Silent_p.T226T|SCN1A_uc021vsb.1_Silent_p.T226T NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 226 T -> M (in SMEI; borderline phenotype; also found in a patient with cryptogenic generalized epilepsy; dbSNP:rs121917984). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGACTGAAATCGTCTTCAATG 0.443000 4 4 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54403691 54403691 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:54403691C>T uc002qcq.1 + 12 1674 c.1392C>T c.(1390-1392)atC>atT p.I464I PRKCG_uc010yeg.1_Silent_p.I464I|PRKCG_uc010yeh.1_Silent_p.I351I NM_002739 NP_002730 P05129 KPCG_HUMAN Homo sapiens protein kinase C, gamma (PRKCG), mRNA. 464 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CGGCAGAAATCGCTATCGGCC 0.587000 24 10 0 0 1 0 0 AARSD1 80755 broad.mit.edu 37 17 41131632 41131632 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:41131632C>T uc010whg.2 - 1 532 c.186G>A c.(184-186)atG>atA p.M62I AARSD1_uc002icd.3_Missense_Mutation_p.M1I|AARSD1_uc002ich.3_Intron|AARSD1_uc010whh.2_Missense_Mutation_p.M62I|RUNDC1_uc021txw.1_5'Flank|RUNDC1_uc002ici.1_5'Flank NM_001136042 NP_079543 Q9BTE6 AASD1_HUMAN Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA. 0 alanyl-tRNA aminoacylation cytoplasm ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1) 17 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) CACAAAACTCCATGAACACAT 0.572000 21 27 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627571 21627571 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:21627571G>A uc004czx.2 + 19 3008 c.2528G>A c.(2527-2529)cGa>cAa p.R843Q CNKSR2_uc004czw.3_Missense_Mutation_p.R843Q|CNKSR2_uc011mjn.2_Missense_Mutation_p.R794Q|CNKSR2_uc011mjo.2_Missense_Mutation_p.R813Q|CNKSR2_uc004czy.3_Missense_Mutation_p.R435Q NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA. 843 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GGCAAGCCTCGAAGTTTTACT 0.532000 17 36 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175087757 175087757 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:175087757C>T uc001gkl.1 + 10 2560 c.2447C>T c.(2446-2448)tCc>tTc p.S816F NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 816 Fibronectin type-III 7. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCCACTGTCTCCTGGGACCCG 0.537000 65 67 0 0 1 0 0 AQP2 359 broad.mit.edu 37 12 50344866 50344866 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:50344866C>T uc001rvn.3 + 0 343 c.253C>T c.(253-255)Cga>Tga p.R85* NM_000486 NP_000477 P41181 AQP2_HUMAN Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA. 85 cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 CTCCGTTCTCCGAGCCGCCTT 0.667000 14 3 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577951 179577951 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:179577951C>T uc021vsy.1 - 89 23403 c.23178G>A c.(23176-23178)agG>agA p.R7726R TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R4387R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8653 Ig-like 59. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGGTATTTCCTTCCACTAC 0.438000 9 6 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9864158 9864158 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:9864158C>T uc004csu.1 + 3 2300 c.2210C>T c.(2209-2211)tCa>tTa p.S737L NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 737 ASD1. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CAGCCACCCTCATCTACAAGT 0.622000 3 9 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179702223 179702223 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:179702223G>A uc002une.2 - 22 3841 c.3723C>T c.(3721-3723)tcC>tcT p.S1241S CCDC141_uc002unf.1_Silent_p.S720S NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 666 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GAAGGCTGAGGGAGGAGCTGA 0.587000 30 10 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75051662 75051662 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:75051662G>A uc009xrc.3 - 17 2212 c.2091C>T c.(2089-2091)tcC>tcT p.S697S TTC18_uc001jty.3_Silent_p.S697S|TTC18_uc001jtv.4_5'Flank|TTC18_uc001jtw.4_5'Flank|TTC18_uc001jtx.3_Silent_p.S78S NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 697 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TCTGGTTGAGGGAAAGGGCTT 0.458000 90 45 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189203 124189203 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:124189203C>T uc010sah.2 - 0 891 c.891G>A c.(889-891)gtG>gtA p.V297V NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GTGCATTTTTCACATCCTTGT 0.403000 18 44 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20799495 20799495 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:20799495C>T uc001reh.2 + 10 2363 c.2323C>T c.(2323-2325)Ctc>Ttc p.L775F PDE3A_uc021qwa.1_Missense_Mutation_p.L453F NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 775 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TATTCCAGGCCTCTCAACTGT 0.413000 56 25 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 670581 670581 + Silent SNP A C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:670581A>C uc001qii.1 + 19 2961 c.2961A>C c.(2959-2961)cgA>cgC p.R987R B4GALNT3_uc001qik.1_Silent_p.R536R NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 987 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) ATTCCAAGCGAGGCATGTGGA 0.617000 17 13 0 0 1 0 0 OR3A2 4995 broad.mit.edu 37 17 3181591 3181591 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:3181591G>A uc002fvg.3 - 0 678 c.639C>T c.(637-639)ttC>ttT p.F213F NM_002551 NP_002542 P47893 OR3A2_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA. 213 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 CTGCCATGATGAAACCCACAG 0.542000 41 38 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166003308 166003308 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:166003308G>A uc002ucx.3 - 11 2104 c.1612C>T c.(1612-1614)Ctt>Ttt p.L538F SCN3A_uc002ucy.3_Missense_Mutation_p.L538F|SCN3A_uc002ucz.3_Missense_Mutation_p.L538F|SCN3A_uc002uda.1_Missense_Mutation_p.L407F|SCN3A_uc002udb.1_Missense_Mutation_p.L407F NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 538 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ATGGAGAAAAGGAAGCTGCTT 0.433000 49 27 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106969110 106969110 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:106969110C>T uc003prh.3 + 1 3715 c.2803C>T c.(2803-2805)Ctg>Ttg p.L935L NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 935 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CAAAGAAGATCTGGATTCACG 0.363000 10 38 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5306727 5306727 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:5306727G>A uc003jdl.3 + 20 3435 c.3297G>A c.(3295-3297)ccG>ccA p.P1099P NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 1099 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CACATTTGCCGAAGCCCAGCC 0.547000 10 44 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45353240 45353240 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:45353240C>T uc003jok.3 - 4 1364 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 447 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGAATATTTTCCTCATCAAAG 0.343000 46 22 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189872820 189872820 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:189872820C>T uc002uqj.1 + 46 3594 c.3477C>T c.(3475-3477)ccC>ccT p.P1159P NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 1159 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ATCCAGGTCCCATTGGACCAC 0.453000 14 5 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38854597 38854597 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:38854597G>A uc021yzh.1 + 56 8399 c.8290G>A c.(8290-8292)Gaa>Aaa p.E2764K DNAH8_uc003ooe.2_Missense_Mutation_p.E2547K NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACAGATGATGGAAATGGAAGG 0.388000 103 58 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136294 55136294 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:55136294C>T uc010rif.2 + 0 935 c.935C>T c.(934-936)cCa>cTa p.P312L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATGCTGAACCCACTAATCTAT 0.388000 67 73 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156849848 156849848 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:156849848C>T uc001fqh.1 + 15 2160 c.2104C>T c.(2104-2106)Cgt>Tgt p.R702C NTRK1_uc001fqf.1_Missense_Mutation_p.R666C|NTRK1_uc009wsi.1_Missense_Mutation_p.R401C|NTRK1_uc001fqi.1_Missense_Mutation_p.R696C|NTRK1_uc009wsk.1_Missense_Mutation_p.R699C NM_002529 NP_002520 P04629 NTRK1_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA. 702 Protein kinase. Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CATCCTGTACCGTAAGTTCAC 0.637000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 94 31 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132407935 132407935 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:132407935G>A uc003epe.2 - 19 2970 c.2866C>T c.(2866-2868)Cta>Tta p.L956L NPHP3_uc003epd.2_Silent_p.L198L NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA. 956 Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGAAGGCCTAGATCCTTGAGA 0.443000 96 29 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43376049 43376049 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:43376049C>T uc002ovd.1 - 2 717 c.579G>A c.(577-579)ttG>ttA p.L193L PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.L193L|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Silent_p.L193L|PSG3_uc002ovb.3_Silent_p.L193L NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 193 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CGGACAGCTTCAAGCTGTGAG 0.517000 212 111 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65246619 65246619 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:65246619C>T uc001xht.3 - 19 4348 c.4297G>A c.(4297-4299)Gag>Aag p.E1433K SPTB_uc001xhr.3_Missense_Mutation_p.E1433K|SPTB_uc001xhs.3_Missense_Mutation_p.E1433K|SPTB_uc001xhu.3_Missense_Mutation_p.E1433K|SPTB_uc010aqi.3_Missense_Mutation_p.E94K NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1433 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.E1433E(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCCAGCTCCTCTTTTCGCACA 0.577000 108 38 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37425564 37425564 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:37425564G>A uc021ppc.1 + 5 716 c.617G>A c.(616-618)cGa>cAa p.R206Q ANKRD30A_uc001iza.1_Missense_Mutation_p.R206Q NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 262 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAATATATACGAAAATTATCT 0.269000 12 5 0 0 1 0 0 IGH 0 broad.mit.edu 37 16 31973470 31973470 + RNA SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:31973470C>T uc002ect.3 + 0 c.62C>T Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186. CTGAGACTCTCCTGTGCAGCC 0.572000 86 40 0 0 1 0 0 HS3ST3A1 9955 broad.mit.edu 37 17 13399547 13399547 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:13399547C>T uc002gob.1 - 1 1986 c.1188G>A c.(1186-1188)caG>caA p.Q396Q NM_006042 NP_006033 Q9Y663 HS3SA_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA. 396 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GCCCGGTCATCTGGTAGAACT 0.463000 68 29 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123512535 123512535 + Missense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:123512535A>T uc003ego.3 - 3 436 c.154T>A c.(154-156)Ttc>Atc p.F52I MYLK_uc011bjw.2_Missense_Mutation_p.F52I|MYLK_uc003egp.3_Missense_Mutation_p.F52I|MYLK_uc003egq.3_Missense_Mutation_p.F52I|MYLK_uc003egr.3_Missense_Mutation_p.F52I|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Missense_Mutation_p.F52I|MYLK_uc003egu.1_Missense_Mutation_p.F62I NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 52 Ig-like C2-type 1. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.F52F(2) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CGCCCTTCGAACTTGGCGGTG 0.602000 38 9 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427724 119427724 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:119427724G>A uc001ehl.1 - 7 1437 c.1122C>T c.(1120-1122)gtC>gtT p.V374V TBX15_uc009whj.1_Silent_p.V198V NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 480 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) CTGCCTGCATGACATACTGAA 0.567000 20 24 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108034182 108034182 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:108034182C>T uc001tmk.1 + 12 3353 c.2832C>T c.(2830-2832)gcC>gcT p.A944A BTBD11_uc001tmj.3_Silent_p.A944A|BTBD11_uc001tml.1_Silent_p.A481A|BTBD11_uc001tmm.1_Silent_p.A23A NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 944 BTB. integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TATTTACAGCCTCTCCAAGGT 0.373000 36 20 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553578 140553578 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140553578G>A uc003lit.3 + 0 1336 c.1162G>A c.(1162-1164)Gat>Aat p.D388N NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 388 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D388Y(2)|p.D387D(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATCCAGGACGATGTCCCCTT 0.468000 44 10 0 0 1 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160742969 160742969 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:160742969G>A uc002ubb.4 - 4 949 c.875C>T c.(874-876)tCa>tTa p.S292L LY75-CD302_uc010fos.3_Missense_Mutation_p.S292L|LY75-CD302_uc002ubc.4_Missense_Mutation_p.S292L|LY75-CD302_uc010fot.2_Missense_Mutation_p.S292L NM_001198759 NP_001185688 O60449 LY75_HUMAN Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA. 292 C-type lectin 1. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding TTTGTGGTCTGACCATTCCCA 0.378000 25 15 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263584 34263584 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:34263584G>A uc002nus.4 + 4 1396 c.891G>A c.(889-891)cgG>cgA p.R297R CHST8_uc002nut.4_Silent_p.R297R|CHST8_uc002nuu.3_Silent_p.R297R NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 297 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) ATGCCTCTCGGGAGGCCCTGC 0.647000 27 15 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344045 248344045 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:248344045G>A uc010pzf.2 + 0 758 c.758G>A c.(757-759)gGa>gAa p.G253E NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G253L(2) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGTACTATGGAGCAGCTTTG 0.498000 144 52 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121388158 121388158 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:121388158G>A uc010hrc.3 - 17 9348 c.9222C>T c.(9220-9222)ctC>ctT p.L3074L GOLGB1_uc003eei.4_Silent_p.L3069L|GOLGB1_uc003eej.4_Silent_p.L3035L|GOLGB1_uc021xcy.1_Silent_p.L2994L NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 3069 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TGGTATCGCAGAGCTGAATGG 0.493000 100 27 0 0 1 0 0 MTA1 9112 broad.mit.edu 37 14 105936543 105936543 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:105936543C>T uc001yqx.3 + 20 2326 c.2139C>T c.(2137-2139)atC>atT p.I713I MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Silent_p.I701I|MTA1_uc001yrb.3_Silent_p.I478I|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank NM_004689 NP_004680 Q13330 MTA1_HUMAN Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA. 713 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CCATCGTCATCGAGGACTAGG 0.776000 4 3 0 0 1 0 0 PHLPP1 23239 broad.mit.edu 37 18 60563057 60563058 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:60563057_60563058CC>TT uc021ule.1 + 5 2502_2503 c.2257_2258CC>TT c.(2257-2259)cct>TTt p.P753F NM_194449 NP_919431 O60346 PHLP1_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA. 753 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CCAATCCCTTCCTGCTGAGTTG 0.342000 153 37 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433644 69433644 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:69433644C>T uc021xov.1 - 0 602 c.559G>A c.(559-561)Gga>Aga p.G187R NM_001077 NP_001068 O75795 UDB17_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA. 187 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 AACAGAAATCCTCCACCATTC 0.403000 13 56 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48266155 48266155 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:48266155C>T uc002iqm.3 - 42 3172 c.3046_splice c.e42-1 p.G1016_splice NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1016 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACCAGGAGCCCCCTGCAGAGA 0.612000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 64 25 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124315112 124315112 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:124315112G>A uc001uft.4 + 24 4082 c.4057G>A c.(4057-4059)Gaa>Aaa p.E1353K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1353 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGAACTTATGGAAAAAACGTC 0.363000 26 14 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140221050 140221050 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140221050C>T uc003lhs.2 + 0 144 c.144C>T c.(142-144)atC>atT p.I48I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.I48I NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 61 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCCGGATCGCGCAGGACC 0.657000 84 27 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23177452 23177452 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:23177452C>T uc003xdh.1 - 7 1755 c.1416G>A c.(1414-1416)gaG>gaA p.E472E LOXL2_uc010lty.1_Silent_p.E11E NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA. 472 SRCR 4. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CCACCATGGCCTCCACGATGC 0.662000 61 29 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1616161 1616161 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:1616161G>A uc002wfm.1 - 3 898 c.833C>T c.(832-834)cCc>cTc p.P278L SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA. 278 Ig-like C1-type 2. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TAGGCTCTGGGGGTAGAACTT 0.547000 50 92 0 0 1 0 0 KRT18P55 284085 broad.mit.edu 37 17 26603815 26603815 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:26603815G>A uc002has.3 - 2 1147 c.660C>T c.(658-660)ctC>ctT p.L220L Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA. TGACCTTGTGGAGCCCATGGA 0.502000 14 25 0 0 1 0 0 PTPN9 5780 broad.mit.edu 37 15 75816559 75816559 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:75816559G>A uc002bal.3 - 2 796 c.288C>T c.(286-288)ttC>ttT p.F96F NM_002833 NP_002824 P43378 PTN9_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA. 96 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTAAGATGGTGAATTTTCCAC 0.383000 36 21 0 0 1 0 0 LOC440563 440563 broad.mit.edu 37 1 13183370 13183370 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:13183370C>T uc010obg.2 - 1 746 c.503G>A c.(502-504)gGa>gAa p.G168E NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA. 168 ribonucleoprotein complex nucleic acid binding|nucleotide binding CTTGGAAGATCCCCGCTTTCC 0.493000 310 62 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36768464 36768464 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:36768464C>T uc010lvw.3 + 21 2435 c.2348C>T c.(2347-2349)tCt>tTt p.S783F KCNU1_uc003xjw.2_Non-coding_Transcript NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 783 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GCACTTTATTCTGGAGACCTC 0.517000 86 30 0 0 1 0 0 NR2E3 10002 broad.mit.edu 37 15 72105876 72105876 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:72105876G>A uc002ati.3 + 5 1085 c.895G>A c.(895-897)Gag>Aag p.E299K NR2E3_uc002ath.1_Missense_Mutation_p.E299K NM_014249 NP_055064 Q9Y5X4 NR2E3_HUMAN Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA. 299 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|endometrium(1)|lung(1) 3 GGCCAGCATGGAGACGCGTGT 0.652000 14 6 0 0 1 0 0 ECHDC2 55268 broad.mit.edu 37 1 53373571 53373571 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:53373571G>A uc001cup.4 - 3 579 c.333C>T c.(331-333)gtC>gtT p.V111V ECHDC2_uc001cun.3_Silent_p.V65V|ECHDC2_uc001cuo.4_Silent_p.V111V|ECHDC2_uc021onl.1_Silent_p.V111V|ECHDC2_uc010onk.2_Silent_p.V65V|ECHDC2_uc010onl.1_Silent_p.V65V|ECHDC2_uc010onm.1_Silent_p.V65V|ECHDC2_uc010onn.1_Silent_p.V65V NM_001198961 NP_001185890 Q86YB7 ECHD2_HUMAN Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA. 111 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 GGAGTCGCTGGACAAACACCC 0.612000 78 16 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165551510 165551510 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:165551510G>A uc002ucp.3 - 11 2728 c.2506C>T c.(2506-2508)Ccg>Tcg p.P836S COBLL1_uc002ucq.3_Missense_Mutation_p.P798S|COBLL1_uc010zcw.2_Missense_Mutation_p.P903S|COBLL1_uc010zcx.2_Missense_Mutation_p.P844S|COBLL1_uc002ucn.3_Missense_Mutation_p.P264S|COBLL1_uc002uco.3_Missense_Mutation_p.P567S NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 874 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TTAGGCTTCGGTTTAAGGTTT 0.463000 35 18 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137025 126137025 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:126137025G>A uc001uhe.1 + 7 1946 c.1938G>A c.(1936-1938)aaG>aaA p.K646K TMEM132B_uc001uhf.1_Silent_p.K158K NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 646 integral to membrane p.K646Q(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGGCTGAGAAGACGGTGATTG 0.557000 19 11 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38793921 38793921 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:38793921G>A uc003ciq.3 - 10 1544 c.1544C>T c.(1543-1545)tCa>tTa p.S515L NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 515 sensory perception voltage-gated sodium channel complex p.I514S(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTCAGGGAGTGAGATATCTCG 0.602000 37 17 0 0 1 0 0 TIFAB 497189 broad.mit.edu 37 5 134785287 134785287 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:134785287G>A uc003law.4 - 1 544 c.343C>T c.(343-345)Cgc>Tgc p.R115C C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.R115C NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA. 115 breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCTTCTACGCGAACCAGCATC 0.562000 113 37 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2121513 2121513 + Silent SNP C T T rs137854248 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:2121513C>T uc002con.3 + 17 1948 c.1842C>T c.(1840-1842)gcC>gcT p.A614A TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.A614A|TSC2_uc002coo.3_Silent_p.A614A|TSC2_uc010uvv.2_Silent_p.A577A|TSC2_uc010uvw.2_Silent_p.A565A|TSC2_uc002cop.3_Silent_p.A414A NM_000548 NP_000539 P49815 TSC2_HUMAN Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA. 614 A -> D (in TSC2). cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CCTGACAGGCCTTTGACTTCC 0.642000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 11 17 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9388640 9388640 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:9388640C>T uc021wam.1 + 17 1703 c.1688C>T c.(1687-1689)cCa>cTa p.P563L PLCB4_uc010gbw.1_Missense_Mutation_p.P563L|PLCB4_uc010gbx.3_Missense_Mutation_p.P575L|PLCB4_uc021wal.1_Missense_Mutation_p.P563L|PLCB4_uc002wnh.3_Missense_Mutation_p.P410L NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 563 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AATATCCATCCATATTTGTCC 0.433000 157 45 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34192284 34192284 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:34192284G>A uc001bxm.1 - 15 2548 c.2371C>T c.(2371-2373)Ccc>Tcc p.P791S CSMD2_uc001bxn.1_Missense_Mutation_p.P751S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 751 CUB 5. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCACCACAGGGAGCTGGGGGG 0.522000 32 5 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61513506 61513506 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:61513506G>A uc002ydr.2 - 15 4114 c.3802C>T c.(3802-3804)Cca>Tca p.P1268S DIDO1_uc002yds.2_Missense_Mutation_p.P1268S NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1268 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGTGGTTCTGGAAGAGGGGGC 0.647000 144 54 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170062080 170062080 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:170062080G>A uc002ues.3 - 40 7837 c.7624C>T c.(7624-7626)Cgc>Tgc p.R2542C NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2542 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATGGGTACGCGGAAGTTTCCT 0.488000 40 26 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47835896 47835896 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:47835896G>A uc002xuh.3 + 0 65 c.4G>A c.(4-6)Gta>Ata p.V2I NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA. 2 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GTGACGCATGGTACTTGCGCA 0.607000 12 8 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203820193 203820193 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:203820193C>T uc001hac.3 + 18 2731 c.2115C>T c.(2113-2115)gtC>gtT p.V705V ZC3H11A_uc001had.3_Silent_p.V705V|ZC3H11A_uc001hae.3_Silent_p.V705V|ZC3H11A_uc001haf.3_Silent_p.V705V|ZC3H11A_uc010pqm.2_Silent_p.V651V NM_014827 NP_055642 O75152 ZC11A_HUMAN Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA. 705 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) AGGCTGTTGTCCCGCTTGTCT 0.413000 115 140 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75684868 75684868 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:75684868C>T uc002bai.3 - 14 2825 c.2566G>A c.(2566-2568)Ggt>Agt p.G856S SIN3A_uc002baj.3_Missense_Mutation_p.G856S|SIN3A_uc010uml.2_Missense_Mutation_p.G856S NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA. 856 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex|nucleolus protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CCCCCAACACCATTGTGCTTC 0.443000 69 44 0 0 1 0 0 PBLD 64081 broad.mit.edu 37 10 70043999 70043999 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:70043999G>A uc001jns.1 - 9 1005 c.802C>T c.(802-804)Cca>Tca p.P268S PBLD_uc001jnr.1_Missense_Mutation_p.P235S|PBLD_uc001jnt.1_Missense_Mutation_p.P268S NM_022129 NP_071412 P30039 PBLD_HUMAN Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA. 268 biosynthetic process isomerase activity p.P268T(2) endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 CTTCCGTCTGGACGAAGGGAA 0.458000 67 41 0 0 1 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48132950 48132950 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:48132950G>A uc001rpz.4 - 23 2987 c.2437C>T c.(2437-2439)Ccc>Tcc p.P813S AL831948_uc001rpv.3_Intron|RAPGEF3_uc001rpw.3_Missense_Mutation_p.P106S|RAPGEF3_uc001rpx.3_Missense_Mutation_p.P228S|RAPGEF3_uc010sln.2_Missense_Mutation_p.P268S|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.P771S|RAPGEF3_uc009zkq.3_Missense_Mutation_p.P771S NM_001098531 NP_006096 A8K2G5 A8K2G5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA. 771 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GGCATGAAGGGGATGACAGGA 0.607000 25 16 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233757678 233757678 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:233757678C>T uc002vts.2 - 6 1320 c.1072G>A c.(1072-1074)Gac>Aac p.D358N NGEF_uc010zmm.1_Missense_Mutation_p.D81N|NGEF_uc010fyg.1_Missense_Mutation_p.D266N NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 358 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GAGAAGTGGTCGGCCGCATAA 0.572000 61 47 0 0 1 0 0 SFXN3 81855 broad.mit.edu 37 10 102797185 102797185 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:102797185G>A uc010qpx.2 + 7 952 c.792G>A c.(790-792)ctG>ctA p.L264L SFXN3_uc001ksp.3_Silent_p.L260L NM_030971 NP_112233 Q9BWM7 SFXN3_HUMAN Homo sapiens sideroflexin 3 (SFXN3), mRNA. 260 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) AAGACTTCCTGAAGGTAGGCG 0.537000 103 64 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11333968 11333968 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:11333968G>A uc002rbd.1 - 29 4073 c.3624C>T c.(3622-3624)gtC>gtT p.V1208V NM_004850 NP_004841 O75116 ROCK2_HUMAN Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA. 1208 PH. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TAACTGGTCGGACATGAAATA 0.299000 40 11 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108011178 108011178 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:108011178G>A uc001tmk.1 + 8 2717 c.2196G>A c.(2194-2196)atG>atA p.M732I BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.M732I|BTBD11_uc001tml.1_Missense_Mutation_p.M269I NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 732 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AGGGTGATATGAACTCTTTCA 0.517000 38 20 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27800586 27800586 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:27800586C>T uc002rkz.4 + 0 1198 c.1147C>T c.(1147-1149)Cag>Tag p.Q383* NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 383 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCCCAAACCACAGCATCATGT 0.453000 19 11 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116746668 116746668 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:116746668G>A uc001ppy.3 - 8 1015 c.979C>T c.(979-981)Cga>Tga p.R327* SIK3_uc001ppz.3_Nonsense_Mutation_p.R226*|SIK3_uc001pqa.3_Intron NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 327 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CTCTTATGTCGATCACACAGC 0.473000 11 34 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100992261 100992261 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:100992261C>T uc010avx.3 + 4 1249 c.1156C>T c.(1156-1158)Cgg>Tgg p.R386W WDR25_uc001yhn.3_Missense_Mutation_p.R386W|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.R129W NM_001161476 NP_078791 Q64LD2 WDR25_HUMAN Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA. 386 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) CCTGTTCCTCCGGGAAGGCTC 0.597000 35 25 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102748634 102748634 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:102748634G>A uc001ksf.2 + 0 1342 c.667G>A c.(667-669)Gag>Aag p.E223K MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.E223K|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript NM_021830 NP_068602 Q96RR1 PEO1_HUMAN Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. 223 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GAAGCTCCTAGAGGCTAAATG 0.547000 23 16 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150737981 150737981 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:150737981C>T uc003wil.4 + 12 1599 c.1506C>T c.(1504-1506)atC>atT p.I502I ABCB8_uc010lpw.1_Missense_Mutation_p.R378C|ABCB8_uc010lpx.3_Silent_p.I485I|ABCB8_uc011kvd.2_Silent_p.I397I|ABCB8_uc003wim.4_Silent_p.I280I|ABCB8_uc003wik.4_Silent_p.I485I NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA. 502 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGGCAAGATCGTGGCCCTCG 0.657000 8 3 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3304437 3304437 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:3304437C>T uc002cun.1 - 1 671 c.631G>A c.(631-633)Ggg>Agg p.G211R MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 211 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) TGCAGCCTCCCCGCGGAGCTG 0.741000 11 4 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141215150 141215150 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:141215150C>T uc002tvj.1 - 60 10668 c.9696G>A c.(9694-9696)ggG>ggA p.G3232G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3232 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTTGGTTTTCCCATCAGTCC 0.428000 TSP Lung(27;0.18) 72 58 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9024197 9024197 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:9024197G>A uc002mkp.3 - 17 37279 c.37075C>T c.(37075-37077)Cct>Tct p.P12359S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12361 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGGTCCCAGGAGCTGAGGAA 0.483000 15 8 0 0 1 0 0 OR3A4P 390756 broad.mit.edu 37 17 3213652 3213652 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:3213652C>T uc002fvi.2 + 0 114 c.48C>T c.(46-48)gtC>gtT p.V16V Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA. CCAAGTTTGTCCTGCTGGGCC 0.542000 53 61 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50764857 50764857 + Silent SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:50764857C>A uc010enu.1 + 20 2597 c.2550C>A c.(2548-2550)tcC>tcA p.S850S MYH14_uc002prq.1_Silent_p.S817S|MYH14_uc002prr.1_Silent_p.S809S NM_001145809 NP_001139281 Q7Z406 MYH14_HUMAN Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA. 809 axon guidance|regulation of cell shape myosin complex ATP binding|actin binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TCATCGTCTCCTTCCAGGCAG 0.652000 20 6 8.12818e-05 8.15625e-05 1 1 0 CHRM2 1129 broad.mit.edu 37 7 136700756 136700756 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:136700756G>A uc003vtf.1 + 3 1767 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K CHRM2_uc003vtg.1_Missense_Mutation_p.E382K|CHRM2_uc003vti.1_Missense_Mutation_p.E382K|CHRM2_uc003vtm.1_Missense_Mutation_p.E382K|CHRM2_uc003vtj.1_Missense_Mutation_p.E382K|CHRM2_uc003vtk.1_Missense_Mutation_p.E382K|CHRM2_uc003vtl.1_Missense_Mutation_p.E382K|CHRM2_uc003vtn.1_Missense_Mutation_p.E382K|CHRM2_uc003vto.1_Missense_Mutation_p.E382K|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.E382K NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 382 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.R381Q(1)|p.R381L(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCCTTCCCGGGAAAAGAAAGT 0.458000 13 7 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49168397 49168397 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:49168397G>A uc003cwe.3 - 6 1200 c.901C>T c.(901-903)Cat>Tat p.H301Y LAMB2_uc003cwf.1_Missense_Mutation_p.H301Y NM_002292 NP_002283 P55268 LAMB2_HUMAN Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA. 301 Laminin EGF-like 1. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCCTCAGCATGGGCTGGTGCC 0.597000 38 60 0 0 1 0 0 TUBA8 51807 broad.mit.edu 37 22 18613813 18613813 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:18613813G>A uc002znw.1 + 3 1629 c.1332G>A c.(1330-1332)gaG>gaA p.E444E TUBA8_uc002znv.2_Silent_p.E420E|TUBA8_uc021wkt.1_Silent_p.E354E NM_001193414 NP_001180343 Q9NY65 TBA8_HUMAN Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA. 420 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 AATTTTCTGAGGCCAGGGAAG 0.493000 59 24 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1208886 1208887 + Silent DNP CC TT TT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:1208886_1208887CC>TT uc003jbw.4 + 1 284_285 c.228_229CC>TT c.(226-231)atcctg>atTTtg p.76_77IL>IL NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA. 76 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CGTTCCTCATCCTGCTGGTCCT 0.673000 26 67 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37770908 37770908 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:37770908C>T uc003asq.4 - 2 1453 c.667G>A c.(667-669)Ggc>Agc p.G223S ELFN2_uc021wph.1_Missense_Mutation_p.G223S NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 223 LRRCT. cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) AGCGGGTAGCCGGCAAACTCC 0.657000 16 9 0 0 1 0 0 C8orf80 389643 broad.mit.edu 37 8 27886902 27886902 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:27886902C>T uc003xgm.4 - 16 2178 c.2035G>A c.(2035-2037)Ggc>Agc p.G679S NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA. 679 nucleus GTP binding|GTPase activity p.G679S(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1) 35 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) GCTTTTTTGCCCGTGATCTGA 0.542000 10 5 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73450341 73450341 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:73450341G>A uc001jrx.4 + 19 2560 c.2170_splice c.e19+1 p.G724_splice CDH23_uc001jry.3_Splice_Site_p.G724_splice|CDH23_uc001jrz.3_Splice_Site_p.G724_splice NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 726 Cadherin 7. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGCCCGCTCAGGTGAGCCCCC 0.642000 5 3 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276950 71276950 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:71276950C>T uc001oqt.1 + 0 342 c.317C>T c.(316-318)tCt>tTt p.S106F NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA. 106 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGCTGTGGTTCTTGTGGGGGC 0.677000 81 76 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55925689 55925690 + Splice_Site DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:55925689_55925690GG>AA uc003pcs.3 - 26 2584 c.2352_splice c.e26+1 p.P784_splice COL21A1_uc010jzz.3_Splice_Site_p.P169_splice|COL21A1_uc011dxg.2_Splice_Site_p.P157_splice|COL21A1_uc011dxh.2_Splice_Site_p.P169_splice|COL21A1_uc003pcr.3_Splice_Site_p.P141_splice NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 784 Collagen-like 5. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GAATACATACGGGCTTCCCATC 0.485000 11 3 0 0 1 0 0 TCTN1 79600 broad.mit.edu 37 12 111066588 111066588 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:111066588C>T uc001trn.4 + 3 645 c.489C>T c.(487-489)tcC>tcT p.S163S TCTN1_uc010syb.2_Silent_p.S163S|TCTN1_uc010syc.2_Non-coding_Transcript|TCTN1_uc009zvs.3_Silent_p.S163S|TCTN1_uc001trm.3_Silent_p.S103S|TCTN1_uc001trp.4_Silent_p.S163S|TCTN1_uc001tri.3_Silent_p.S107S|TCTN1_uc001trj.2_Silent_p.S107S|TCTN1_uc001trk.4_Non-coding_Transcript|HVCN1_uc001trq.1_Intron NM_001082538 NP_001076007 Q2MV58 TECT1_HUMAN Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA. 163 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 CTGCATTATCCTTTATTAATC 0.259000 19 13 0 0 1 0 0 UTS2 10911 broad.mit.edu 37 1 7907881 7907881 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:7907881C>T uc001aos.3 - 4 439 c.365G>A c.(364-366)tGg>tAg p.W122* UTS2_uc001aoq.3_Nonsense_Mutation_p.W107*|UTS2_uc001aor.3_Nonsense_Mutation_p.W107* NM_021995 NP_068835 O95399 UTS2_HUMAN Homo sapiens urotensin 2 (UTS2), transcript variant 1, mRNA. 107 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity kidney(1)|lung(4)|urinary_tract(1) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) GTATGGTTTCCAGATTCTGGC 0.378000 28 46 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35779280 35779280 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:35779280G>A uc003jjo.3 + 29 4390 c.4279G>A c.(4279-4281)Gaa>Aaa p.E1427K SPEF2_uc003jjp.1_Missense_Mutation_p.E913K|SPEF2_uc003jjr.3_5'UTR NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1427 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATTCAGAATGAACTTTATTT 0.373000 55 26 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313965 54313965 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:54313965C>T uc002qcj.4 - 2 1168 c.948G>A c.(946-948)gaG>gaA p.E316E NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.E316E|NLRP12_uc002qci.4_Silent_p.E316E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.E316E NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 316 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TGGGCCGTTTCTCCTCCCAGC 0.567000 26 9 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48619946 48619946 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:48619946G>A uc003toq.2 + 55 14505 c.14481G>A c.(14479-14481)ggG>ggA p.G4827G ABCA13_uc010kys.1_Silent_p.G1902G|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.G557G NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 4827 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity p.E4827E(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCTTACGCGGGATTCCAAGGC 0.547000 11 6 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90000254 90000254 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:90000254C>T uc003kju.3 + 35 8431 c.8335C>T c.(8335-8337)Cct>Tct p.P2779S GPR98_uc003kjt.3_Missense_Mutation_p.P485S|GPR98_uc003kjv.3_Missense_Mutation_p.P379S NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2779 Calx-beta 19. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGACAACATTCCTGAGGAGAA 0.328000 7 3 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541605 55541605 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:55541605G>A uc010ril.2 + 0 692 c.692G>A c.(691-693)cGa>cAa p.R231Q NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R231Q(6) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) ATGAAGATGCGATCTGCAAGT 0.423000 35 48 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36700148 36700148 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:36700148G>A uc003apg.3 - 18 2514 c.2283C>T c.(2281-2283)gtC>gtT p.V761V MYH9_uc003aph.1_Silent_p.V625V NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 761 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CACGGAAGAAGACTTTGCTCT 0.602000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 35 20 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47042819 47042819 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:47042819C>T uc003cqp.3 + 28 4714 c.4535C>T c.(4534-4536)cCc>cTc p.P1512L NBEAL2_uc010hjm.2_Missense_Mutation_p.P889L|NBEAL2_uc010hjn.2_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 1512 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) AAAGAGGCCCCCGTGGGGGTC 0.607000 54 24 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3432620 3432620 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:3432620C>T uc003ggw.3 + 16 4956 c.4052C>T c.(4051-4053)cCc>cTc p.P1351L RGS12_uc003ggv.3_Missense_Mutation_p.P1351L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.P703L|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.P693L|RGS12_uc010icv.3_Missense_Mutation_p.P550L NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 1351 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATCAGCAGCCCCAACAGCACC 0.657000 54 14 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881280 108881280 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:108881280G>A uc010ywo.2 + 6 622 c.622_splice c.e6-1 p.D208_splice NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA. 208 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 TCCACATACAGGACCCAAAGC 0.393000 21 7 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50667245 50667245 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:50667245G>A uc001jhs.4 - 20 4252 c.4098C>T c.(4096-4098)gtC>gtT p.V1366V ERCC6_uc009xod.3_Silent_p.V526V|ERCC6_uc010qgr.2_Silent_p.V736V|ERCC6_uc001jhr.4_Silent_p.V734V NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 1366 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AATGCTCAGGGACATTATCTT 0.438000 Direct reversal of damage;Nucleotide excision repair (NER) 72 34 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142625962 142625962 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142625962C>T uc003wby.1 - 6 851 c.587_splice c.e6-1 p.G196_splice TRPV5_uc003wbz.3_Splice_Site_p.G196_splice NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 196 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ACTGTGTTTCCTGGGGAGGAC 0.552000 53 35 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71004057 71004057 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:71004057G>A uc003pfg.4 - 4 668 c.509C>T c.(508-510)tCg>tTg p.S170L NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 170 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.S170S(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GGACAAATTCGAAAAGGCTGC 0.428000 103 63 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158735788 158735788 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:158735788G>A uc010piq.2 - 0 685 c.685C>T c.(685-687)Ccc>Tcc p.P229S NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA. 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GCAGCTGAGGGAATTCTGAGC 0.498000 110 35 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57868238 57868238 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:57868238C>T uc001sod.3 - 17 2214 c.2021G>A c.(2020-2022)gGg>gAg p.G674E ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.G400E|ARHGAP9_uc001soa.3_Missense_Mutation_p.G273E|ARHGAP9_uc001sob.3_Missense_Mutation_p.G584E|ARHGAP9_uc001soc.3_Missense_Mutation_p.G584E|ARHGAP9_uc001soe.1_Missense_Mutation_p.G663E NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA. 603 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CACATACCTCCCATCGGAGGT 0.512000 21 15 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21698617 21698617 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:21698617G>A uc003svc.3 + 29 5342 c.5311G>A c.(5311-5313)Gaa>Aaa p.E1771K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 1771 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGAAGGCTACGAAACAGCCCT 0.398000 Kartagener syndrome 4 3 0 0 1 0 0 KRT18 3875 broad.mit.edu 37 12 53345628 53345628 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:53345628C>T uc001sbe.3 + 5 1005 c.936C>T c.(934-936)tcC>tcT p.S312S KRT18_uc009zmn.2_Silent_p.S312S|KRT18_uc001sbg.3_Silent_p.S312S|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank NM_199187 NP_954657 P05783 K1C18_HUMAN Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA. 312 Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod. S -> R (in Ref. 8; CAA31369). Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 ACCTGGACTCCATGAGAAATC 0.552000 32 19 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14613723 14613723 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:14613723C>T uc001rbw.3 + 8 2611 c.2453C>T c.(2452-2454)tCt>tTt p.S818F ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.3_Missense_Mutation_p.S818F|ATF7IP_uc001rbv.1_Missense_Mutation_p.S817F|ATF7IP_uc001rbx.3_Missense_Mutation_p.S817F|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.4_Missense_Mutation_p.S818F|ATF7IP_uc001rca.3_Missense_Mutation_p.S818F NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 818 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GAATTCATTTCTGTGCAAAGC 0.473000 56 23 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2807826 2807826 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:2807826G>A uc022aqr.1 - 66 10631 c.10241C>T c.(10240-10242)gCt>gTt p.A3414V CSMD1_uc011kwj.2_Missense_Mutation_p.A2729V|CSMD1_uc010lrg.3_Missense_Mutation_p.A1306V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3415 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AATTTGAAAAGCTTTCAGGAG 0.398000 83 33 0 0 1 0 0 OR2T5 401993 broad.mit.edu 37 1 248651948 248651948 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:248651948G>A uc001iem.1 + 0 59 c.59G>A c.(58-60)gGa>gAa p.G20E NM_001004697 NP_001004697 Q6IEZ7 OR2T5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA. 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2) 9 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCCTCATGGGACTCTTCAGA 0.483000 88 15 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167240187 167240187 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:167240187G>A uc003fev.1 - 11 1938 c.1634C>T c.(1633-1635)tCt>tTt p.S545F WDR49_uc003feu.1_Missense_Mutation_p.S370F|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 545 p.S545Y(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 AGAAAATAAAGAAATTTCCTT 0.313000 22 20 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55924969 55924969 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:55924969G>A uc003pcs.3 - 27 2687 c.2455C>T c.(2455-2457)Cat>Tat p.H819Y COL21A1_uc010jzz.3_Missense_Mutation_p.H204Y|COL21A1_uc011dxg.2_Missense_Mutation_p.H192Y|COL21A1_uc011dxh.2_Intron|COL21A1_uc003pcr.3_Missense_Mutation_p.H176Y NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 819 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GACAGGCAATGATCACAATTT 0.493000 20 9 0 0 1 0 0 OSBPL8 114882 broad.mit.edu 37 12 76791674 76791674 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:76791674G>A uc001sye.1 - 7 952 c.472C>T c.(472-474)Cgt>Tgt p.R158C OSBPL8_uc001syf.1_Missense_Mutation_p.R116C|OSBPL8_uc001syg.1_Missense_Mutation_p.R116C|OSBPL8_uc001syh.1_Missense_Mutation_p.R133C NM_020841 NP_001003712 Q9BZF1 OSBL8_HUMAN Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA. 158 PH. lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 AGAGTACCACGAATCTACAGA 0.353000 20 16 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71354263 71354263 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:71354263C>T uc010dfm.3 - 39 5548 c.5548G>A c.(5548-5550)Ggc>Agc p.G1850S SDK2_uc002jjt.4_Missense_Mutation_p.G990S|SDK2_uc010dfn.2_Missense_Mutation_p.G1529S NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1850 Fibronectin type-III 13. cell adhesion integral to membrane p.P1849P(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GGCCCTTTGCCCGGGTCTCCG 0.647000 98 90 0 0 1 0 0 AQPEP 206338 broad.mit.edu 37 5 115351418 115351418 + Silent SNP C T T rs143698388 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:115351418C>T uc003kro.3 + 17 2876 c.2712C>T c.(2710-2712)gtC>gtT p.V904V AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN Homo sapiens laeverin (AQPEP), mRNA. 904 proteolysis integral to membrane metallopeptidase activity|zinc ion binding p.V904V(1) GCCGGTATGTCGCAAAAGACT 0.413000 23 30 0 0 1 0 0 PRKACG 5568 broad.mit.edu 37 9 71628285 71628285 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:71628285C>T uc004agy.3 - 0 755 c.724G>A c.(724-726)Gac>Aac p.D242N NM_002732 NP_002723 P22612 KAPCG_HUMAN Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA. 242 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 ATGGGCTGGTCGGCGTAGAAG 0.592000 49 42 0 0 1 0 0 B3GAT1 27087 broad.mit.edu 37 11 134254059 134254059 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:134254059C>T uc001qhq.3 - 3 397 c.136G>A c.(136-138)Gaa>Aaa p.E46K B3GAT1_uc001qhr.3_Missense_Mutation_p.E46K|B3GAT1_uc010scv.1_Missense_Mutation_p.E59K NM_018644 NP_473366 Q9P2W7 B3GA1_HUMAN Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA. 46 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) GGCGGCGTTTCGCGTCGGGGG 0.706000 4 13 0 0 1 0 0 SYCE1 93426 broad.mit.edu 37 10 135372429 135372429 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:135372429C>T uc001lno.2 - 3 328 c.223G>A c.(223-225)Gga>Aga p.G75R CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_5'UTR|SYCE1_uc009ybn.2_Missense_Mutation_p.G75R|SYCE1_uc001lnn.2_Missense_Mutation_p.G39R NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA. 75 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CGGGCCTCTCCTAGGTCTTTA 0.517000 17 17 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113232667 113232667 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:113232667C>T uc001eck.3 + 4 1053 c.783C>T c.(781-783)atC>atT p.I261I MOV10_uc001ecl.2_Silent_p.I261I|MOV10_uc001ecn.3_Silent_p.I261I|MOV10_uc001ecm.3_Silent_p.I201I|MOV10_uc009wgj.1_Silent_p.I201I NM_001130079 NP_066014 Q9HCE1 MOV10_HUMAN Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA. 261 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|RNA binding|helicase activity|protein binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GGACCCGGATCACCGGAAACC 0.612000 97 24 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65347940 65347941 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:65347940_65347941CC>TT uc001oeo.4 + 5 889_890 c.624_625CC>TT c.(622-627)gtcccc>gtTTcc p.P209S NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA. 209 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGGCTCGAGTCCCCCAGCCAGG 0.634000 62 14 0 0 1 0 0 LETM2 137994 broad.mit.edu 37 8 38261941 38261941 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:38261941C>T uc003xlm.2 + 7 1226 c.994C>T c.(994-996)Cct>Tct p.P332S LETM2_uc011lbn.2_Missense_Mutation_p.P176S|LETM2_uc003xll.2_Missense_Mutation_p.P284S|LETM2_uc003xln.2_Missense_Mutation_p.P176S|LETM2_uc003xlo.2_Missense_Mutation_p.P176S NM_001199659 NP_001186588 Q2VYF4 LETM2_HUMAN Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA. 379 LETM1. integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) GGAGAACGTCCCTCCTTCCCT 0.552000 84 33 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228779 3228779 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:3228779G>A uc004crg.4 - 6 7622 c.7465C>T c.(7465-7467)Cca>Tca p.P2489S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2489 Ig-like C2-type 9. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCATAGTATGGAGCTGGCAGA 0.572000 0 7 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14792868 14792868 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:14792868C>T uc001rcd.3 - 18 2222 c.2085G>A c.(2083-2085)gtG>gtA p.V695V NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 695 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.R694G(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TGGAATTTTCCACTCTGAAAA 0.363000 36 18 0 0 1 0 0 SAMD15 161394 broad.mit.edu 37 14 77844382 77844382 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:77844382G>A uc001xtq.1 + 0 621 c.621G>A c.(619-621)gaG>gaA p.E207E TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Silent_p.E207E NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA. 207 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CAGGTCTAGAGCCTCCAGAGC 0.458000 53 34 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212293154 212293154 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:212293154G>A uc002veg.1 - 21 2796 c.2698C>T c.(2698-2700)Cag>Tag p.Q900* ERBB4_uc002veh.1_Nonsense_Mutation_p.Q900*|ERBB4_uc010zji.1_Nonsense_Mutation_p.Q890*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.Q890* NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 900 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACGTCACTCTGATGGGTGAAT 0.299000 TSP Lung(8;0.080) 40 25 0 0 1 0 0 FAM83E 54854 broad.mit.edu 37 19 49116546 49116546 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:49116546G>A uc002pjn.2 - 0 149 c.84C>T c.(82-84)tcC>tcT p.S28S NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA. 28 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GCTGGCCCTCGGAATATAGAA 0.706000 8 7 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 608919 608919 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:608919C>T uc001lqe.3 + 13 3594 c.3463C>T c.(3463-3465)Ccc>Tcc p.P1155S PHRF1_uc010qwc.2_Missense_Mutation_p.P1154S|PHRF1_uc010qwd.2_Missense_Mutation_p.P1153S|PHRF1_uc010qwe.2_Missense_Mutation_p.P1151S|PHRF1_uc009ybz.1_Missense_Mutation_p.P945S|PHRF1_uc009yca.2_Non-coding_Transcript NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA. 1155 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 TGTGGCGTGGCCCCGAGACCG 0.701000 15 8 0 0 1 0 0 ELMO3 79767 broad.mit.edu 37 16 67235303 67235303 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:67235303C>T uc002esa.3 + 8 962 c.919C>T c.(919-921)Ctt>Ttt p.L307F ELMO3_uc002esb.3_Missense_Mutation_p.L290F|ELMO3_uc002esc.3_Missense_Mutation_p.L141F NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA. 254 ELMO. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GCTTGACTATCTTTGGCAGAG 0.607000 94 58 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67699378 67699378 + Missense_Mutation SNP T A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:67699378T>A uc001stn.2 + 9 2367 c.1930T>A c.(1930-1932)Ttg>Atg p.L644M CAND1_uc001sto.2_Missense_Mutation_p.L154M NM_018448 NP_060918 Q86VP6 CAND1_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA. 644 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GAAGATAGATTTGAGGCCTGT 0.403000 53 33 0 0 1 0 0 CLIC2 1193 broad.mit.edu 37 X 154507335 154507335 + Missense_Mutation SNP G A A rs5940668 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:154507335G>A uc004fnf.3 - 5 851 c.601C>T c.(601-603)Cgt>Tgt p.R201C NM_001289 NP_001280 O15247 CLIC2_HUMAN Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA. 201 C-terminal.|GST C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity p.R201C(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCAAAGTCACGATATTTCTTG 0.398000 9 28 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24346730 24346730 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:24346730G>A uc003xeb.3 + 11 1263 c.1150G>A c.(1150-1152)Gat>Aat p.D384N ADAM7_uc003xec.3_Missense_Mutation_p.D156N NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 384 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GTACTTGAAGGATTATAAGCC 0.353000 38 39 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634325 70634325 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:70634325C>T uc001xly.3 - 1 1569 c.815G>A c.(814-816)gGa>gAa p.G272E SLC8A3_uc001xlw.3_Missense_Mutation_p.G272E|SLC8A3_uc001xlx.3_Missense_Mutation_p.G272E|SLC8A3_uc001xlz.3_Missense_Mutation_p.G272E|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 272 Calmodulin-binding (By similarity). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding p.R271*(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TATGATAATTCCTCGGTGTTT 0.468000 18 17 0 0 1 0 0 RIT2 6014 broad.mit.edu 37 18 40613801 40613801 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:40613801G>A uc002lav.3 - 1 308 c.135C>T c.(133-135)ttC>ttT p.F45F RIT2_uc010dnf.3_Silent_p.F45F NM_002930 NP_002921 Q99578 RIT2_HUMAN Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA. 45 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane GTP binding|GTPase activity|calmodulin binding endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GATAATCAGGGAACTGATGAC 0.318000 31 12 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24805566 24805566 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:24805566C>T uc001wpb.3 - 9 1582 c.1372G>A c.(1372-1374)Gtg>Atg p.V458M ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.V258M|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.V237M NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA. 458 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity p.V458fs*9(2)|p.G457W(1) NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) CCAACTTGCACCCCAGAGCAG 0.547000 64 28 0 0 1 0 0 ASS1 445 broad.mit.edu 37 9 133333923 133333923 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:133333923G>A uc010mza.3 + 4 1046 c.538G>A c.(538-540)Gaa>Aaa p.E180K ASS1_uc004bzm.3_Missense_Mutation_p.E104K|ASS1_uc004bzn.3_Missense_Mutation_p.E104K NM_054012 NP_446464 P00966 ASSY_HUMAN Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA. 104 S -> N (in CTLN1). arginine biosynthetic process|urea cycle cytosol ATP binding|argininosuccinate synthase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) CAAACAAGTGGAAATCGCCCA 0.657000 15 7 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15894599 15894599 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:15894599C>T uc001aws.3 + 14 2396 c.2276C>T c.(2275-2277)tCt>tTt p.S759F DNAJC16_uc001awt.3_Missense_Mutation_p.S447F|DNAJC16_uc001awu.3_Non-coding_Transcript NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA. 759 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AGCAAGCTCTCTTTATGGATG 0.488000 14 29 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18658818 18658818 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:18658818C>T uc003wza.3 - 6 2088 c.1985G>A c.(1984-1986)aGa>aAa p.R662K PSD3_uc003wyy.3_Missense_Mutation_p.R128K|PSD3_uc003wyz.3_5'UTR NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA. 662 SEC7. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ATAAAAATATCTATTGGAGAA 0.289000 32 51 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1255420 1255420 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:1255420G>A uc003jcb.1 - 13 3197 c.3139C>T c.(3139-3141)Ctg>Ttg p.L1047L TERT_uc003jbz.1_Silent_p.L243L|TERT_uc003jcc.1_Silent_p.L984L|TERT_uc003jca.1_Silent_p.L1035L|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_3'UTR|TERT_uc021xwb.1_Silent_p.L199L NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 1047 CTE. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TTGGCTTTCAGGATGGAGTAG 0.557000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 19 11 0 0 1 0 0 RASSF8 11228 broad.mit.edu 37 12 26218212 26218212 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:26218212C>T uc001rgx.3 + 2 1111 c.885C>T c.(883-885)atC>atT p.I295I RASSF8_uc001rgy.3_Silent_p.I295I|RASSF8_uc001rgz.3_Silent_p.I295I|RASSF8_uc009zjd.2_Silent_p.I295I|RASSF8_uc009zje.2_Silent_p.I295I NM_001164748 NP_001158220 Q8NHQ8 RASF8_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA. 295 signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) AAGGAAAGATCGGTAAGGTCA 0.468000 57 27 0 0 1 0 0 DCAF7 10238 broad.mit.edu 37 17 61666411 61666411 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:61666411C>T uc002jbc.3 + 7 1123 c.906C>T c.(904-906)gcC>gcT p.A302A DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Silent_p.A102A|DCAF7_uc021ubl.1_5'Flank NM_005828 NP_005819 P61962 DCAF7_HUMAN Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA. 302 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 TGCCCCGAGCCATTGAGGACC 0.542000 44 15 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420451 105420451 + Missense_Mutation SNP A C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:105420451A>C uc010axc.1 - 6 1457 c.1337T>G c.(1336-1338)aTg>aGg p.M446R AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.M346R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 446 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTCCCGGCTCATTCCAGGAGT 0.632000 23 9 0 0 1 0 0 DDA1 79016 broad.mit.edu 37 19 17426787 17426787 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:17426787C>T uc002ngd.3 + 3 308 c.181C>T c.(181-183)Cag>Tag p.Q61* NM_024050 NP_076955 Q9BW61 DDA1_HUMAN Homo sapiens DET1 and DDB1 associated 1 (DDA1), mRNA. 61 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 CTACCTGCATCAGCAATGGGA 0.577000 144 78 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47569951 47569952 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:47569951_47569952GG>AA uc002pga.4 - 14 3611_3612 c.3573_3574CC>TT c.(3571-3576)gtccgc>gtTTgc p.R1192C ZC3H4_uc002pgb.1_Non-coding_Transcript NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. 1192 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GCAGACTTGCGGACGAACGGGG 0.663000 17 5 0 0 1 0 0 KRT16P3 644945 broad.mit.edu 37 17 20405846 20405846 + RNA SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:20405846G>A uc002gxb.3 - 4 c.1190C>T Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA. TTGTTGAGGGGGTGGTGGCCA 0.527000 50 12 0 0 1 0 0 SLC16A12 387700 broad.mit.edu 37 10 91198523 91198523 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:91198523G>A uc001kgm.3 - 5 1167 c.866C>T c.(865-867)tCc>tTc p.S289F SLC16A12_uc001kgl.3_5'Flank NM_213606 NP_998771 Q6ZSM3 MOT12_HUMAN Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA. 259 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 AAACAGAACGGAGACGGCTAA 0.448000 25 18 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50865262 50865262 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:50865262G>A uc002prx.3 - 2 366 c.313C>T c.(313-315)Ccg>Tcg p.P105S NR1H2_uc002prv.4_Intron NM_004851 NP_004842 O96009 NAPSA_HUMAN Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA. 105 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) CTCCTGGACGGGACCCAGAGA 0.547000 5 4 0 0 1 0 0 PLCXD2 257068 broad.mit.edu 37 3 111427002 111427002 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:111427002C>T uc003dya.3 + 1 963 c.393C>T c.(391-393)atC>atT p.I131I PLCXD2_uc003dxz.3_Silent_p.I131I NM_001185106 NP_001172035 Q0VAA5 PLCX2_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA. 131 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.F130S(1) endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 TCTACTTCATCCATGGGCTTT 0.502000 92 38 0 0 1 0 0 ZNF143 7702 broad.mit.edu 37 11 9494243 9494243 + Silent SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:9494243T>C uc001mhr.3 + 2 251 c.132T>C c.(130-132)aaT>aaC p.N44N ZNF143_uc009yfu.3_Silent_p.N44N|ZNF143_uc010rby.2_Intron NM_003442 NP_003433 P52747 ZN143_HUMAN Homo sapiens zinc finger protein 143 (ZNF143), mRNA. 44 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) ACTTAGAAAATATGGAAGGCG 0.343000 75 39 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2825384 2825384 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:2825384C>T uc004cqy.3 - 9 1810 c.1710G>A c.(1708-1710)aaG>aaA p.K570K NM_001669 NP_001660 P51689 ARSD_HUMAN Homo sapiens arylsulfatase D (ARSD), mRNA. 570 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCAGCCACGGCTTCCACAGGA 0.612000 3 19 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15591462 15591462 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:15591462G>A uc011lmu.2 + 3 562 c.451G>A c.(451-453)Gat>Aat p.D151N CCDC171_uc010mih.1_Missense_Mutation_p.D151N|CCDC171_uc003zmd.3_Missense_Mutation_p.D151N|CCDC171_uc003zme.3_Missense_Mutation_p.D58N|CCDC171_uc003zmc.2_Missense_Mutation_p.D151N NM_173550 NP_775821 Q6TFL3 CI093_HUMAN Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA. 151 Glu-rich. ATTTGAACATGATTTGGAGGA 0.333000 15 26 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17699839 17699839 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:17699839C>T uc002grm.3 + 2 4046 c.3577C>T c.(3577-3579)Ccc>Tcc p.P1193S RAI1_uc002grn.1_Missense_Mutation_p.P1193S NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 1193 cytoplasm|nucleus zinc ion binding p.S1192G(1) breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CTCCAGCAGCCCCCAGAAGGA 0.662000 36 39 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124896750 124896750 + Missense_Mutation SNP A C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:124896750A>C uc003ehw.4 - 4 616 c.546T>G c.(544-546)aaT>aaG p.N182K SLC12A8_uc003ehv.4_Missense_Mutation_p.N153K|SLC12A8_uc010hrz.1_Missense_Mutation_p.N18K NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 153 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CAGCCCAGATATTCCCGAGGC 0.532000 37 36 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13429817 13429817 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:13429817C>T uc003bxv.1 - 4 753 c.670G>A c.(670-672)Gag>Aag p.E224K NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 224 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TAGACAGCCTCCTGGATGCGA 0.577000 41 55 0 0 1 0 0 TPRA1 131601 broad.mit.edu 37 3 127292608 127292608 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:127292608G>A uc003ejn.2 - 10 1211 c.878C>T c.(877-879)tCc>tTc p.S293F TPRA1_uc003ejl.2_Missense_Mutation_p.S293F|TPRA1_uc010hsk.2_Silent_p.L238L|TPRA1_uc003ejm.3_Non-coding_Transcript NM_001136053 NP_057456 Q86W33 TPRA1_HUMAN Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA. 293 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 GCATTTGTAGGAGAAGAGGAT 0.597000 40 10 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20974661 20974661 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:20974661G>A uc010vbe.2 - 52 10545 c.10545C>T c.(10543-10545)tcC>tcT p.S3515S DNAH3_uc010vbd.2_Silent_p.S950S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3515 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CACAGCAGCTGGAATCATTGT 0.498000 40 16 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98058819 98058819 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:98058819G>A uc001drv.3 - 9 1220 c.1083C>T c.(1081-1083)atC>atT p.I361I NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 361 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTCTGAAGACGATGAACACAC 0.458000 111 25 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7420457 7420457 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:7420457C>T uc003src.1 - 28 2359 c.2242G>A c.(2242-2244)Ggt>Agt p.G748S COL28A1_uc011jxe.1_Missense_Mutation_p.G431S NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 748 Collagen-like 6. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCTTTATCACCTTTCTTTCCC 0.408000 83 28 0 0 1 0 0 GJB6 10804 broad.mit.edu 37 13 20797593 20797593 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:20797593G>A uc001und.4 - 2 414 c.27C>T c.(25-27)ttC>ttT p.F9F GJB6_uc001umz.4_Silent_p.F9F|GJB6_uc001unb.4_Silent_p.F9F|GJB6_uc001unc.4_Silent_p.F9F|GJB6_uc001una.4_Silent_p.F9F|GJB6_uc021rhb.1_Silent_p.F9F NM_001110221 NP_006774 O95452 CXB6_HUMAN Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA. 9 cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) CACCCCCGATGAAAGTGTGCA 0.507000 150 52 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411779 39411779 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:39411779C>T uc021txh.1 + 0 144 c.142C>T c.(142-144)Cgc>Tgc p.R48C NM_030975 NP_112237 B5MDD6 B5MDD6_HUMAN Homo sapiens keratin associated protein 9-9 (KRTAP9-9), mRNA. 48 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCCTTGCTGCCGCCCAGCTTG 0.642000 59 32 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94643672 94643672 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:94643672C>T uc001dqj.4 - 20 2901 c.2532G>A c.(2530-2532)gtG>gtA p.V844V ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.V410V NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 844 Rho-GAP. Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GTCCAAATATCACCCCCAAGT 0.423000 73 77 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70420239 70420239 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:70420239C>T uc001xlt.2 + 2 650 c.368C>T c.(367-369)tCc>tTc p.S123F SMOC1_uc001xls.2_Missense_Mutation_p.S123F NM_001034852 NP_001030024 Q9H4F8 SMOC1_HUMAN Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA. 123 Thyroglobulin type-1 1. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) GAGGATGGCTCCTTTACCCAG 0.632000 31 13 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452990 138452990 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:138452990C>T uc003ihe.4 - 0 640 c.253G>A c.(253-255)Gaa>Aaa p.E85K PCDH18_uc003ihf.4_Missense_Mutation_p.E78K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 85 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ATGCTGATTTCCCCATTATCC 0.433000 162 54 0 0 1 0 0 CMTM2 146225 broad.mit.edu 37 16 66622018 66622018 + Missense_Mutation SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:66622018A>G uc002ept.3 + 3 903 c.743A>G c.(742-744)aAa>aGa p.K248R CMTM2_uc010cdu.3_Missense_Mutation_p.K195R NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA. 248 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) AAGGGAAAGAAATGACTTGGA 0.512000 27 12 0 0 1 0 0 CREB3L2 64764 broad.mit.edu 37 7 137600659 137600659 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:137600659G>A uc003vtw.3 - 2 815 c.419C>T c.(418-420)cCg>cTg p.P140L CREB3L2_uc003vtx.2_Missense_Mutation_p.P140L|CREB3L2_uc003vty.4_Missense_Mutation_p.P140L|CREB3L2_uc003vtv.3_Missense_Mutation_p.P77L NM_194071 NP_919047 Q70SY1 CR3L2_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA. 140 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P140L(2) FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 AGTGACAGACGGAACGAGTCC 0.498000 T FUS fibromyxoid sarcoma 36 19 0 0 1 0 0 CLN3 1201 broad.mit.edu 37 16 28489124 28489124 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:28489124G>A uc002dpo.3 - 13 1454 c.1131C>T c.(1129-1131)atC>atT p.I377I NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Silent_p.I299I|CLN3_uc002dpm.3_Silent_p.I323I|CLN3_uc010vcu.2_Silent_p.I277I|CLN3_uc010vcv.2_Silent_p.I353I|CLN3_uc002dpp.3_Silent_p.I377I|CLN3_uc021tfs.1_Silent_p.I224I|CLN3_uc002dpt.1_Silent_p.I277I|CLN3_uc002dpq.1_Silent_p.I329I|CLN3_uc010bye.1_Silent_p.I360I|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Silent_p.I250I|CLN3_uc002dpu.1_Silent_p.I275I NM_000086 NP_001035897 Q13286 CLN3_HUMAN Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. 377 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 CATACAGAATGATCAGGAAGA 0.607000 33 29 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23884344 23884344 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:23884344C>T uc001wjx.3 - 36 5525 c.5419G>A c.(5419-5421)Ggc>Agc p.G1807S NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1807 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTCTTGCCGCCCTTGAGGGCG 0.622000 51 35 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205307724 205307724 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:205307724C>T uc001hcf.1 - 5 1326 c.758_splice c.e5-1 p.G253_splice KLHDC8A_uc010prg.1_Splice_Site_p.G140_splice|KLHDC8A_uc001hcg.1_Splice_Site_p.G253_splice NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA. 253 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) CAGCCATCCCCCTATAGGCCA 0.517000 53 38 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28968963 28968963 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:28968963G>A uc002kwr.2 + 4 634 c.499G>A c.(499-501)Gaa>Aaa p.E167K DSG4_uc002kwq.2_Missense_Mutation_p.E167K NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 167 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGCCAGCATTGAAGAAAATAG 0.403000 33 9 0 0 1 0 0 REL 5966 broad.mit.edu 37 2 61149238 61149238 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:61149238C>T uc002sam.1 + 10 1652 c.1428C>T c.(1426-1428)tcC>tcT p.S476S REL_uc002san.1_Silent_p.S444S NM_002908 NP_002899 Q04864 REL_HUMAN Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian) (REL), mRNA. 476 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) AAGCGTCATCCATGCCATCAG 0.423000 A Hodgkin Lymphoma 44 12 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62599149 62599149 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:62599149C>T uc010ihh.3 + 4 1245 c.1072C>T c.(1072-1074)Cct>Tct p.P358S LPHN3_uc003hcq.4_Missense_Mutation_p.P358S|LPHN3_uc010ihg.1_Missense_Mutation_p.P426S|LPHN3_uc003hcs.1_Missense_Mutation_p.P187S NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 358 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TGTACCCTTTCCTAATTCATA 0.383000 12 14 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120155 103120155 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:103120155C>T uc002tbz.4 + 2 1426 c.969C>T c.(967-969)tcC>tcT p.S323S NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 323 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TCTATCTCTCCGGCATCCTGG 0.423000 50 27 0 0 1 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350173 51350173 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:51350173G>A uc001zyy.3 - 2 884 c.784C>T c.(784-786)Ctc>Ttc p.L262F NM_207381 NP_997264 Q5GJ75 TP8L3_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA. 262 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) AGGGTGGAGAGGAACTCCACA 0.522000 31 12 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109047786 109047786 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:109047786G>A uc003dxq.4 - 5 884 c.829C>T c.(829-831)Cca>Tca p.P277S DPPA4_uc011bho.2_Missense_Mutation_p.S178F NM_018189 NP_060659 Q7L190 DPPA4_HUMAN Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA. 277 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 TGCGGGGGTGGAAAATTGGAG 0.473000 29 31 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47160510 47160510 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:47160510C>T uc001rpi.2 - 16 2017 c.1618G>A c.(1618-1620)Gat>Aat p.D540N SLC38A4_uc001rpj.2_Missense_Mutation_p.D540N NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 540 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TTTGGAGGATCATAAATCCAG 0.323000 8 8 0 0 1 0 0 PMP22 5376 broad.mit.edu 37 17 15162439 15162439 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:15162439G>A uc002goj.3 - 1 199 c.150C>T c.(148-150)gtC>gtT p.V50V PMP22_uc002gok.3_Silent_p.V50V|PMP22_uc002gol.3_Silent_p.V50V NM_153322 NP_696997 Q01453 PMP22_HUMAN Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 3, mRNA. 50 peripheral nervous system development|synaptic transmission integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06) AACAGTGGTGGACATTTCCTG 0.498000 52 17 0 0 1 0 0 MMD2 221938 broad.mit.edu 37 7 4965103 4965103 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:4965103C>T uc003sno.4 - 1 304 c.108G>A c.(106-108)gcG>gcA p.A36A MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.4_Silent_p.A36A|MMD2_uc010ksq.3_Silent_p.A36A NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA. 36 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CACAGTTGGCCGCATGTTCAT 0.602000 83 39 0 0 1 0 0 CLEC4G 339390 broad.mit.edu 37 19 7794821 7794821 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:7794821C>T uc002mhp.4 - 8 697 c.628_splice c.e8-1 p.G210_splice CLEC4G_uc021uny.1_Splice_Site_p.G198_splice NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA. 210 C-type lectin. integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 AGTGAGGAAGCCCTAGAAAGG 0.687000 24 20 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649087 47649087 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:47649087C>T uc010jzj.1 + 5 793 c.792C>T c.(790-792)atC>atT p.I264I GPR111_uc003oyy.3_Silent_p.I196I NM_153839 NP_722581 Q8IZF7 GP111_HUMAN Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA. 264 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GCAGCTATATCCTGCTACATT 0.408000 89 62 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6050615 6050615 + Missense_Mutation SNP T G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:6050615T>G uc010idb.1 - 15 2483 c.1997A>C c.(1996-1998)cAa>cCa p.Q666P JAKMIP1_uc010idc.1_Missense_Mutation_p.Q481P|JAKMIP1_uc010idd.1_Intron NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 439 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGTTCCAGCTTGGATTATTGC 0.468000 54 12 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14263229 14263229 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:14263229G>A uc010xnn.2 - 21 3852 c.3556C>T c.(3556-3558)Ctg>Ttg p.L1186L LPHN1_uc010xno.2_Silent_p.L1181L|LOC100507373_uc002myf.3_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA. 1186 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGGTTGGTCAGCAGGTGGTTC 0.622000 25 24 0 0 1 0 0 FSHB 2488 broad.mit.edu 37 11 30255117 30255117 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:30255117G>A uc001msl.3 + 3 229 c.160_splice c.e3-1 p.D54_splice FSHB_uc001msm.3_Splice_Site_p.D54_splice|FSHB_uc001msn.3_Splice_Site_p.D54_splice NM_000510 NP_001018090 P01225 FSHB_HUMAN Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA. 54 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) AACTCCTCAGGATCTGGTGTA 0.428000 32 10 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16979627 16979627 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:16979627C>T uc001ioo.3 - 38 5942 c.5890G>A c.(5890-5892)Gat>Aat p.D1964N NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 1964 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCAGGTGCATCCACTGCAAAC 0.418000 31 12 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11078575 11078575 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:11078575G>A uc010hdq.3 + 15 2134 c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 575 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCAGCCCAGCGAAGACATCGT 0.642000 81 26 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200877898 200877898 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:200877898C>T uc001gvo.3 + 6 912 c.870C>T c.(868-870)gcC>gcT p.A290A C1orf106_uc010ppm.2_Silent_p.A205A NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 290 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 AGTCTCCAGCCCCACCTTCTC 0.607000 100 90 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72083978 72083978 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:72083978G>A uc001osj.3 - 4 777 c.727C>T c.(727-729)Ccc>Tcc p.P243S CLPB_uc010rqx.2_Missense_Mutation_p.P198S|CLPB_uc010rqy.2_Intron|CLPB_uc001osk.3_Intron|CLPB_uc010rqz.2_Intron NM_030813 NP_110440 Q9H078 CLPB_HUMAN Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA. 243 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 CCGCCAGCGGGGAGTCCTAGC 0.527000 66 65 0 0 1 0 0 PRSS58 136541 broad.mit.edu 37 7 141955399 141955399 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:141955399C>T uc003vxb.3 - 1 455 c.135G>A c.(133-135)ctG>ctA p.L45L PRSS58_uc003vxc.4_Silent_p.L45L NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN Homo sapiens protease, serine, 58 (PRSS58), mRNA. 45 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.L45L(2) kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 GCGGGTGGATCAGGACTCCAG 0.498000 41 25 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347050 48347050 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:48347050C>T uc010rhv.2 + 0 558 c.558C>T c.(556-558)ctC>ctT p.L186L NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TTCAGCTCCTCCTGGTCCTTT 0.527000 95 16 0 0 1 0 0 SPZ1 84654 broad.mit.edu 37 5 79616713 79616713 + RNA SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:79616713C>T uc011ctk.1 - 0 c.946G>A SPZ1_uc003kgn.3_Nonsense_Mutation_p.Q227* Q9BXG8 SPZ1_HUMAN Homo sapiens cDNA FLJ25709 fis, clone TST04944. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) TCAACAAAGTCAGGAAAAAGC 0.353000 35 7 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53519485 53519485 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:53519485G>A uc003pcb.4 - 1 727 c.586C>T c.(586-588)Cgg>Tgg p.R196W NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA. 196 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) AAGTTATCCCGAATAAATTTC 0.348000 48 36 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143018507 143018507 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:143018507C>T uc003wcr.1 + 3 570 c.483C>T c.(481-483)ttC>ttT p.F161F CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Silent_p.F9F NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 161 F -> V (in THD and MCR). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CTCTGCAGTTCCTGGTCTGGG 0.592000 52 23 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25404711 25404711 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:25404711G>A uc001upr.3 + 16 2376 c.2335G>A c.(2335-2337)Gat>Aat p.D779N RNF17_uc010tdd.1_Missense_Mutation_p.D638N|RNF17_uc010tde.2_Missense_Mutation_p.D779N|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.D718N|RNF17_uc010aac.3_5'UTR NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 779 Tudor 1. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TAAAATAAAGGATGAGTTTCT 0.328000 56 59 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127414390 127414390 + Missense_Mutation SNP C T T rs149421957 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:127414390C>T uc001liq.1 + 5 1068 c.775C>T c.(775-777)Ccc>Tcc p.P259S C10orf137_uc001lin.3_Missense_Mutation_p.P259S|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.P259S NM_001202438 NP_001189367 Q3B7T1 EDRF1_HUMAN Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA. 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTCTGAAGATCCCAGTGCTTC 0.408000 19 14 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23530677 23530677 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:23530677C>T uc001wit.4 - 16 3756 c.3428G>A c.(3427-3429)cGg>cAg p.R1143Q ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.R385Q|ACIN1_uc001wiq.4_Missense_Mutation_p.R385Q|ACIN1_uc001wir.4_Missense_Mutation_p.R416Q|ACIN1_uc001wis.4_Missense_Mutation_p.R824Q|ACIN1_uc010akg.3_Missense_Mutation_p.R1130Q|ACIN1_uc010tnj.2_Missense_Mutation_p.R1103Q NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA. 1143 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CCACTGTTCCCGCACTGCCCG 0.682000 96 66 0 0 1 0 0 FTSJ2 29960 broad.mit.edu 37 7 2279136 2279136 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:2279136G>A uc003slm.3 - 1 244 c.215C>T c.(214-216)cCc>cTc p.P72L FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA. 72 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) CCGAAGGCCGGGCCGCAGAAT 0.637000 11 13 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141232864 141232864 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:141232864G>A uc002tvj.1 - 59 10440 c.9468C>T c.(9466-9468)ggC>ggT p.G3156G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3156 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCCAACACGGCCAATATGAG 0.368000 TSP Lung(27;0.18) 55 29 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66945163 66945163 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:66945163C>T uc002eql.3 - 13 2040 c.1846G>A c.(1846-1848)Gag>Aag p.E616K CDH16_uc010cdy.3_Missense_Mutation_p.E616K|CDH16_uc021tjx.1_Missense_Mutation_p.E616K|CDH16_uc002eqm.3_Missense_Mutation_p.E519K NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 616 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTGTGCACCTCCCCGGAGAAT 0.597000 20 8 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2813184 2813184 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:2813184G>A uc022aqr.1 - 63 10311 c.9921C>T c.(9919-9921)ttC>ttT p.F3307F CSMD1_uc011kwj.2_Silent_p.F2637F|CSMD1_uc010lrg.3_Silent_p.F1199F NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3308 Sushi 28. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCCTGCGAGGAAAAAGCCTG 0.507000 61 25 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543503 28543503 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:28543503C>T uc003nlo.3 - 2 1597 c.979G>A c.(979-981)Gag>Aag p.E327K NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 327 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 AACTCTTTCTCCATGCGAGTA 0.373000 124 62 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77297636 77297636 + Missense_Mutation SNP G A A rs138111283 by1000genomes TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:77297636G>A uc001xsx.2 + 2 422 c.308G>A c.(307-309)cGg>cAg p.R103Q C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA. 103 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) TACTTCATTCGGAACATGGAG 0.537000 38 21 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48438697 48438697 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:48438697G>A uc001jfb.3 - 0 442 c.14C>T c.(13-15)cCc>cTc p.P5L GDF10_uc009xnp.3_Missense_Mutation_p.P5L|GDF10_uc009xnq.2_Missense_Mutation_p.P5L NM_004962 NP_004953 P55107 BMP3B_HUMAN Homo sapiens growth differentiation factor 10 (GDF10), mRNA. 5 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GGTCCGAGCGGGGACATGAGC 0.716000 22 5 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165706911 165706911 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:165706911C>T uc003qum.4 - 5 1147 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 371 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCTGATCGTTCCTTTGCAGAC 0.458000 46 148 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113307728 113307728 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:113307728G>A uc010syl.2 + 9 1042 c.680G>A c.(679-681)gGa>gAa p.G227E RPH3A_uc001ttz.3_Missense_Mutation_p.G227E|RPH3A_uc001tty.3_Missense_Mutation_p.G223E|RPH3A_uc009zwe.1_Missense_Mutation_p.G223E|RPH3A_uc010sym.2_Missense_Mutation_p.G178E|RPH3A_uc001tua.3_5'UTR NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA. 227 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CCCGGGCGAGGAAACTATGGG 0.577000 59 23 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168065881 168065881 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:168065881G>A uc010pln.2 - 3 1558 c.1024C>T c.(1024-1026)Ctg>Ttg p.L342L GPR161_uc001gfb.3_Silent_p.L190L|GPR161_uc001gfc.3_Silent_p.L322L|GPR161_uc010pll.2_Silent_p.L232L|GPR161_uc010plm.2_Silent_p.L208L|GPR161_uc009wvo.3_Silent_p.L339L|GPR161_uc001gfd.3_Silent_p.L322L|GPR161_uc001gfe.1_Silent_p.L322L NM_153832 NP_722561 Q8N6U8 GP161_HUMAN Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA. 322 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) CCATAGATCAGGGGGTGGCAG 0.572000 74 30 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980499 121980499 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:121980499G>A uc003eew.4 + 3 1055 c.617G>A c.(616-618)tGg>tAg p.W206* CASR_uc003eev.4_Nonsense_Mutation_p.W206* NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 206 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TATTTCCGCTGGAACTGGGTG 0.522000 145 57 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106994082 106994082 + RNA SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:106994082C>T uc021ser.1 - 233 c.9172G>A Parts of antibodies, mostly variable regions. TACCAAGCCTCCCCCAGACTC 0.557000 64 55 0 0 1 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43570718 43570718 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:43570718C>T uc002lbp.4 - 12 1021 c.925G>A c.(925-927)Gga>Aga p.G309R PSTPIP2_uc002lbq.4_Silent_p.E276E|RN7SK_uc021ujh.1_5'Flank NM_024430 NP_077748 Q9H939 PPIP2_HUMAN Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA. 309 membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 GGGAGGGGTCCTCTCCTGTAA 0.358000 22 13 0 0 1 0 0 GET4 51608 broad.mit.edu 37 7 933448 933449 + Missense_Mutation DNP AC TT TT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:933448_933449AC>TT uc003sjl.1 + 6 910_911 c.818_819AC>TT c.(817-819)aac>aTT p.N273I GET4_uc003sjj.1_Non-coding_Transcript NM_015949 NP_057033 Q7L5D6 GET4_HUMAN Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA. 273 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCATGTACAACGAGGTGAGAG 0.644000 15 11 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230598 56230598 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:56230598C>T uc010rjj.2 - 0 280 c.280G>A c.(280-282)Gga>Aga p.G94R OR8U8_uc001nit.2_Intron NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) ACCAAGCATCCCACATAGGAA 0.493000 45 48 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37612300 37612300 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:37612300G>A uc003onu.1 - 12 3553 c.2374C>T c.(2374-2376)Ccc>Tcc p.P792S MDGA1_uc003onv.1_Missense_Mutation_p.P61S NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 792 MAM. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ATGTCGGTGGGGGGACCAGTG 0.607000 23 8 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155506870 155506871 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:155506870_155506871GG>AA uc003iod.1 - 4 1768_1769 c.1710_1711CC>TT c.(1708-1713)ttccct>ttTTct p.P571S FGA_uc003ioe.1_Missense_Mutation_p.P571S|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 571 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCACGGGAAGGGAATTCAGCTA 0.431000 39 35 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437504 120437504 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:120437504C>T uc001eij.3 - 0 1644 c.1456G>A c.(1456-1458)Gga>Aga p.G486R NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 486 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CAAGGGGTTCCATCCTGCTTA 0.488000 33 17 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55449590 55449590 + Missense_Mutation SNP G A A rs104895549 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:55449590G>A uc002qih.4 - 4 2027 c.1951C>T c.(1951-1953)Ccg>Tcg p.P651S NLRP7_uc010esk.3_Missense_Mutation_p.P651S|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Missense_Mutation_p.P651S|NLRP7_uc010esl.3_Missense_Mutation_p.P679S NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 651 P -> S (in HYDM). ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCCCAGTTCGGAATGGTTAGG 0.493000 41 28 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167525063 167525063 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:167525063G>A uc010jjd.3 + 8 1744 c.1744G>A c.(1744-1746)Ggg>Agg p.G582R ODZ2_uc003lzq.2_Missense_Mutation_p.G461R|ODZ2_uc003lzr.4_Missense_Mutation_p.G350R NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TAACTGCCATGGGAATGGTGA 0.473000 22 25 0 0 1 0 0 TACR2 6865 broad.mit.edu 37 10 71175867 71175867 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:71175867G>A uc001jpn.2 - 0 808 c.213C>T c.(211-213)ttC>ttT p.F71F NM_001057 NP_001048 P21452 NK2R_HUMAN Homo sapiens tachykinin receptor 2 (TACR2), mRNA. 71 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) GATTGACGATGAAGTAGTTGG 0.577000 30 15 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68857370 68857370 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:68857370C>T uc001jmz.1 + 2 2112 c.1562C>T c.(1561-1563)aCc>aTc p.T521I CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA. 521 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AATGTGTCAACCTTTCTGGCA 0.398000 29 17 0 0 1 0 0 FAM75D1 389763 broad.mit.edu 37 9 84606660 84606660 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:84606660C>T uc004amn.3 + 3 1322 c.1275C>T c.(1273-1275)ttC>ttT p.F425F NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 425 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 GGGGTGATTTCCTGATGTGGA 0.428000 17 21 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81172099 81172099 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:81172099G>A uc002bfw.1 + 3 544 c.284G>A c.(283-285)cGa>cAa p.R95Q KIAA1199_uc010unn.1_Missense_Mutation_p.R95Q NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 95 G8. breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ATTGTTTTGCGAACCCGGCAC 0.498000 44 24 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7350834 7350834 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:7350834C>T uc002ghb.3 + 5 516 c.475C>T c.(475-477)Ccc>Tcc p.P159S CHRNB1_uc010vty.2_Missense_Mutation_p.P87S|CHRNB1_uc010vtz.1_5'UTR NM_000747 NP_000738 P11230 ACHB_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA. 159 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) CACCTACTTCCCCTTCGACTG 0.587000 86 18 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77317924 77317924 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:77317924G>A uc002ffc.4 - 22 4014 c.3595C>T c.(3595-3597)Cct>Tct p.P1199S NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 1199 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CCATGCTGAGGAACTAGGTGA 0.433000 58 30 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98348837 98348837 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:98348837G>A uc001drv.3 - 1 270 c.133C>T c.(133-135)Cct>Tct p.P45S DPYD_uc010oub.1_Intron|DPYD_uc001drw.3_Missense_Mutation_p.P45S NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 45 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTCTTATCAGGATTTCTTTTC 0.373000 21 17 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181759595 181759595 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:181759595G>A uc009wxt.3 + 43 5996 c.5801G>A c.(5800-5802)gGa>gAa p.G1934E CACNA1E_uc001gow.3_Missense_Mutation_p.G1934E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G1915E NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1934 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGCCGGAGTGGATACCCTTCG 0.542000 53 21 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476012 120476012 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:120476012G>A uc004bjz.3 + 2 1897 c.1606G>A c.(1606-1608)Gat>Aat p.D536N TLR4_uc004bkb.3_Missense_Mutation_p.D336N|TLR4_uc004bka.3_Missense_Mutation_p.D496N NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 536 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CTTTTCATTGGATACGTTTCC 0.408000 25 9 0 0 1 0 0 ZNF396 252884 broad.mit.edu 37 18 32948372 32948372 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:32948372C>T uc010xcf.1 - 4 1077 c.945G>A c.(943-945)aaG>aaA p.K315K NM_145756 NP_665699 Q96N95 ZN396_HUMAN Homo sapiens zinc finger protein 396 (ZNF396), mRNA. 0 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 7 AGTACATATTCTTTTGGGCCT 0.328000 54 29 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28972152 28972152 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:28972152C>T uc002kwr.2 + 7 989 c.854C>T c.(853-855)tCg>tTg p.S285L DSG4_uc002kwq.2_Missense_Mutation_p.S285L NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 285 Cadherin 3. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.S285L(2) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGTTTAAGTTCGGAACTGATA 0.338000 45 11 0 0 1 0 0 NUDT21 11051 broad.mit.edu 37 16 56485101 56485101 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:56485101G>A uc002eja.3 - 0 161 c.14C>T c.(13-15)cCg>cTg p.P5L OGFOD1_uc002ejb.3_5'Flank|OGFOD1_uc002ejc.3_5'Flank NM_007006 NP_008937 O43809 CPSF5_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA. 5 Necessary for RNA-binding. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription centrosome|mRNA cleavage factor complex|paraspeckles AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4) 7 GCGATTGGGCGGTACCACAGA 0.642000 99 3 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71206851 71206851 + Missense_Mutation SNP G T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:71206851G>T uc001xmm.3 - 6 1598 c.1598C>A c.(1597-1599)tCc>tAc p.S533Y MAP3K9_uc010ttk.2_Missense_Mutation_p.S270Y|MAP3K9_uc001xmk.3_Missense_Mutation_p.S227Y|MAP3K9_uc001xml.3_Missense_Mutation_p.S533Y NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 533 KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4). activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CATGGTAGGGGAGGCCTGCAC 0.463000 32 19 2.54575e-18 2.56695e-18 1 1 0 C17orf28 283987 broad.mit.edu 37 17 72954515 72954515 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:72954515C>T uc002jmj.4 - 10 1448 c.1299G>A c.(1297-1299)cgG>cgA p.R433R C17orf28_uc010wrs.2_Silent_p.R232R NM_030630 NP_085133 Q8IV36 CQ028_HUMAN Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA. 433 integral to membrane|plasma membrane protein binding p.E432K(1) endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1) 17 all_lung(278;0.151)|Lung NSC(278;0.185) CCCCGAAGTTCCGCTCCCCGC 0.637000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 8 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160171068 160171068 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:160171068G>A uc010pja.2 + 10 1350 c.1093G>A c.(1093-1095)Gag>Aag p.E365K NM_001231 NP_001222 P31415 CASQ1_HUMAN Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA. 365 Asp-rich. mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGACGATGAGGAGGACCTGCC 0.552000 17 9 0 0 1 0 0 HNRNPK 3190 broad.mit.edu 37 9 86586837 86586837 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:86586837G>A uc004ang.4 - 10 1137 c.913C>T c.(913-915)Cgg>Tgg p.R305W HNRNPK_uc011lsw.2_Missense_Mutation_p.R65W|HNRNPK_uc004and.4_Missense_Mutation_p.R65W|HNRNPK_uc004anf.4_Missense_Mutation_p.R305W|HNRNPK_uc004anh.4_Missense_Mutation_p.R281W|HNRNPK_uc011lsx.2_Missense_Mutation_p.R281W|HNRNPK_uc004anl.4_Missense_Mutation_p.R305W|HNRNPK_uc004anm.4_Missense_Mutation_p.R305W|MIR7-1_uc004ano.1_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA. 305 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity). interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 GGAAGATTCCGAGCTCTGCTA 0.517000 62 25 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99256384 99256384 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:99256384G>A uc002sze.3 - 11 1523 c.1209C>T c.(1207-1209)taC>taT p.Y403Y MGAT4A_uc010yvm.2_Silent_p.Y275Y|MGAT4A_uc010fil.3_Silent_p.Y157Y NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA. 403 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|extracellular region|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 TATGCCCTTGGTAGACCTTCA 0.403000 32 18 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135103366 135103366 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:135103366G>A uc010qvc.1 - 9 1763 c.1406C>T c.(1405-1407)tCc>tTc p.S469F TUBGCP2_uc001lmf.1_Missense_Mutation_p.S34F|TUBGCP2_uc001lmg.1_Missense_Mutation_p.S441F|TUBGCP2_uc010qvd.1_Missense_Mutation_p.S311F|TUBGCP2_uc009ybk.1_Missense_Mutation_p.S441F|TUBGCP2_uc001lmh.1_Non-coding_Transcript NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA. 441 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CTGCAGGAAGGACGGGATCTG 0.617000 30 12 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44921560 44921560 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:44921560C>T uc001ztx.3 - 8 1793 c.1762G>A c.(1762-1764)Gat>Aat p.D588N SPG11_uc010ueh.2_Missense_Mutation_p.D588N|SPG11_uc010uei.2_Missense_Mutation_p.D588N|SPG11_uc001zua.1_Missense_Mutation_p.D588N NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. 588 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CAAAGTAAATCCAATGCTGGT 0.338000 13 17 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58258686 58258686 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:58258686G>A uc002iyo.1 - 32 4834 c.4548_splice c.e32+1 p.S1516_splice USP32_uc002iyn.1_Splice_Site_p.S1186_splice NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA. 1516 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ACCACTTACCGAAATTGCATA 0.363000 64 22 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87591092 87591092 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:87591092C>T uc003ydx.3 - 17 1977 c.1929_splice c.e17-1 p.R643_splice CNGB3_uc010maj.3_Splice_Site_p.R500_splice NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 643 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TAAAAGCACTCTGTGGGTAAG 0.423000 39 14 0 0 1 0 0 MPL 4352 broad.mit.edu 37 1 43805659 43805660 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:43805659_43805660GG>AA uc001ciw.3 + 4 760_761 c.715_716GG>AA c.(715-717)gga>AAa p.G239K MPL_uc001civ.3_Missense_Mutation_p.G239K|MPL_uc009vwr.3_Missense_Mutation_p.G232K NM_005373 NP_005364 P40238 TPOR_HUMAN Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA. 239 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGCAGAGGGTGGAAGCTGCCTC 0.579000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 57 8 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43614995 43614995 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:43614995C>T uc001jal.3 + 13 2599 c.2409C>T c.(2407-2409)atC>atT p.I803I RET_uc001jak.1_Silent_p.I803I|RET_uc010qez.1_Silent_p.I549I NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 803 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TCCTCCTCATCGTGGAGTACG 0.706000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 5 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9080501 9080501 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:9080501C>T uc002mkp.3 - 1 9734 c.9530G>A c.(9529-9531)gGa>gAa p.G3177E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3178 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A3175fs*111(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CGTGGAATTTCCTTGTGCTGC 0.498000 73 26 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72347510 72347510 + Missense_Mutation SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:72347510T>C uc002llw.2 + 0 4588 c.4535T>C c.(4534-4536)tTg>tCg p.L1512S ZNF407_uc010xfc.2_Missense_Mutation_p.L1512S|ZNF407_uc010dqu.2_Missense_Mutation_p.L1512S|ZNF407_uc002llu.2_Missense_Mutation_p.L1511S NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 1512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CATGAGGAATTGCTGCGGGAG 0.453000 19 21 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89202882 89202882 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:89202882C>T uc021ryf.1 - 6 1124 c.875G>A c.(874-876)cGa>cAa p.R292Q EML5_uc021ryg.1_Missense_Mutation_p.R292Q NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA. 292 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GTGGTCACCTCGCCAACACAC 0.358000 77 45 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155506751 155506751 + Silent SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:155506751T>C uc003iod.1 - 4 1888 c.1830A>G c.(1828-1830)gaA>gaG p.E610E FGA_uc003ioe.1_Silent_p.E610E|FGA_uc003iof.1_3'UTR NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 610 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CATGATCGGCTTCACTTCCGG 0.478000 46 37 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51611535 51611535 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:51611535G>A uc003pah.1 - 58 10258 c.9982C>T c.(9982-9984)Cct>Tct p.P3328S PKHD1_uc010jzn.1_Missense_Mutation_p.P1311S|PKHD1_uc003pai.3_Missense_Mutation_p.P3328S NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3328 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TGTAATGAAGGAAAGTAGAAC 0.333000 71 29 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132211580 132211580 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:132211580C>T uc001uja.1 + 5 1068 c.928C>T c.(928-930)Ctt>Ttt p.L310F SFSWAP_uc010tbn.1_Missense_Mutation_p.L310F|SFSWAP_uc001ujb.1_Missense_Mutation_p.L103F|SFSWAP_uc001uiz.1_Missense_Mutation_p.L184F NM_004592 NP_004583 Q12872 SFSWA_HUMAN Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA. 310 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 GTGTAACCGCCTTGAAGAGCT 0.378000 28 15 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316768 30316768 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:30316768G>A uc009xle.2 - 2 2446 c.2309C>T c.(2308-2310)tCc>tTc p.S770F KIAA1462_uc001iux.3_Missense_Mutation_p.S770F|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.S632F NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 770 p.S770S(1) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CTGGTCCACGGACAAGGAAGT 0.612000 27 16 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57954438 57954438 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:57954438G>A uc002emt.2 - 18 1719 c.1654C>T c.(1654-1656)Cgt>Tgt p.R552C CNGB1_uc010cdh.2_Missense_Mutation_p.R546C NM_001297 NP_001288 Q14028 CNGB1_HUMAN Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA. 552 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GAGGCCGCACGGTCCTGGCCA 0.622000 32 16 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084653 53084653 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:53084653C>T uc003xqz.2 - 4 924 c.768G>A c.(766-768)agG>agA p.R256R ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.R221R|ST18_uc011lds.1_Silent_p.R161R|ST18_uc003xra.2_Silent_p.R256R|ST18_uc003xrb.2_Silent_p.R256R NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 256 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GCGGGTCTTTCCTTTCTGTTT 0.453000 89 25 0 0 1 0 0 SASS6 163786 broad.mit.edu 37 1 100588017 100588017 + Missense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:100588017A>T uc001dsu.3 - 3 371 c.230T>A c.(229-231)cTg>cAg p.L77Q SASS6_uc009wdz.3_5'UTR NM_194292 NP_919268 Q6UVJ0 SAS6_HUMAN Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA. 77 PISA. centriole replication centriole breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) GAAGTCTACCAGAAGACCTTG 0.303000 19 23 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30973872 30973872 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:30973872C>T uc003xio.4 + 19 3064 c.2276C>T c.(2275-2277)tCc>tTc p.S759F WRN_uc010lvk.3_Missense_Mutation_p.S226F NM_000553 NP_000544 Q14191 WRN_HUMAN Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. 759 Helicase C-terminal. DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTCTTTAGTTCCCACTGGGAA 0.348000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 29 11 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149228 34149229 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:34149228_34149229CC>TT uc004ddg.3 - 0 1219_1220 c.1167_1168GG>AA c.(1165-1170)ccggag>ccAAag p.E390K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 390 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTGGGAGGCTCCGGGCTGAGAT 0.619000 13 29 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 73001643 73001643 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:73001643C>T uc003pga.3 + 25 3821 c.3744C>T c.(3742-3744)caC>caT p.H1248H RIMS1_uc011dyb.2_Silent_p.H645H|RIMS1_uc003pgc.3_Silent_p.H697H|RIMS1_uc010kaq.3_Silent_p.H568H|RIMS1_uc011dyc.2_Silent_p.H545H|RIMS1_uc010kar.3_Silent_p.H488H|RIMS1_uc011dyd.2_Silent_p.H554H|RIMS1_uc003pge.3_Silent_p.H288H|RIMS1_uc003pgf.3_Silent_p.H257H|RIMS1_uc003pgi.3_Silent_p.H236H|RIMS1_uc003pgg.3_Silent_p.H316H|RIMS1_uc003pgh.3_Silent_p.H287H|RIMS1_uc003pgd.3_Silent_p.H314H|RIMS1_uc011dye.2_Silent_p.H44H|RIMS1_uc011dyf.2_Silent_p.H44H NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 1248 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCAGAATGCACCGACAGAGAA 0.468000 7 6 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1041920 1041920 + Missense_Mutation SNP C T T rs141121079 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:1041920C>T uc001ift.3 + 2 342 c.271C>T c.(271-273)Cat>Tat p.H91Y GTPBP4_uc010qac.1_Intron|GTPBP4_uc010qad.2_Intron|GTPBP4_uc010qae.2_Missense_Mutation_p.H44Y NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN Homo sapiens GTP binding protein 4 (GTPBP4), mRNA. 91 negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding p.H91Y(2) endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) CGACAAGGATCATTACAAGTT 0.378000 29 25 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218713599 218713599 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:218713599G>A uc002vgt.2 - 16 1664 c.1266C>T c.(1264-1266)gtC>gtT p.V422V TNS1_uc002vgr.2_Silent_p.V422V|TNS1_uc002vgs.2_Silent_p.V422V|TNS1_uc010zjv.1_Silent_p.V422V|TNS1_uc010fvj.1_Silent_p.V490V|TNS1_uc010fvk.1_Silent_p.V547V|TNS1_uc010fvi.1_Silent_p.V109V NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 422 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) AGGCCCCGGGGACAGGCTCGT 0.642000 41 27 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21229480 21229480 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:21229480G>A uc010sil.2 + 14 2090 c.2025G>A c.(2023-2025)agG>agA p.R675R SLCO1B3_uc010sim.2_Silent_p.R614R|SLCO1B3_uc010sin.2_Silent_p.R567R Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 638 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GGGCTTGTAGGATATATAATT 0.348000 87 58 0 0 1 0 0 GNA14 9630 broad.mit.edu 37 9 80144078 80144078 + Silent SNP C T T rs140008129 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:80144078C>T uc004aku.3 - 1 739 c.216G>A c.(214-216)acG>acA p.T72T NM_004297 NP_004288 O95837 GNA14_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA. 72 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.T72M(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 AAACCAGCTTCGTGAACCCCT 0.448000 177 95 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21309078 21309078 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:21309078G>A uc001iqk.3 - 2 571 c.217C>T c.(217-219)Cgc>Tgc p.R73C NEBL_uc021pnu.1_Missense_Mutation_p.R73C NM_213569 NP_998734 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 2, mRNA. 737 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGCTTCAGGCGAAGATTTTCA 0.413000 46 24 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4247761 4247761 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:4247761G>A uc003smx.3 + 36 5384 c.5245G>A c.(5245-5247)Gaa>Aaa p.E1749K SDK1_uc010kso.3_Missense_Mutation_p.E1005K|SDK1_uc003smy.3_Missense_Mutation_p.E236K NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1749 Fibronectin type-III 11. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAGCCAGAACGAAACGGAGAA 0.552000 65 25 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38541528 38541528 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:38541528G>A uc003auy.1 - 2 478 c.342C>T c.(340-342)atC>atT p.I114I PLA2G6_uc003auz.1_Silent_p.I114I|PLA2G6_uc003ava.1_Silent_p.I114I|PLA2G6_uc003avb.2_Silent_p.I114I|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Silent_p.I114I NM_003560 NP_003551 O60733 PA2G6_HUMAN Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA. 114 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) GGTGGTTACGGATGAGGTCGG 0.567000 16 11 0 0 1 0 0 PNPO 55163 broad.mit.edu 37 17 46022934 46022934 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:46022934C>T uc002imo.3 + 3 526 c.373C>T c.(373-375)Ccc>Tcc p.P125S PNPO_uc010wkz.2_Intron|PNPO_uc010wla.2_Missense_Mutation_p.P30S|PNPO_uc010wlb.2_Missense_Mutation_p.P125S NM_018129 NP_060599 Q9NVS9 PNPO_HUMAN Homo sapiens pyridoxamine 5'-phosphate oxidase (PNPO), mRNA. 125 pyridoxine biosynthetic process cytosol FMN binding|pyridoxamine-phosphate oxidase activity endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1) 5 Pyridoxal Phosphate(DB00114) GGACTCTAATCCCTTTGCTTC 0.557000 100 31 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142609900 142609900 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142609900G>A uc003wby.1 - 12 1800 c.1536C>T c.(1534-1536)ttC>ttT p.F512F NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 512 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.F512L(2) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCTCTGTCTGGAAAATGATAT 0.463000 52 23 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74042727 74042727 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:74042727C>T uc002sjr.1 + 2 1498 c.1377C>T c.(1375-1377)tcC>tcT p.S459S NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 459 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCTTCAGTTCCTTACAAGATC 0.448000 24 19 0 0 1 0 0 ZFP90 146198 broad.mit.edu 37 16 68598497 68598497 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:68598497C>T uc010cff.3 + 4 2099 c.1807C>T c.(1807-1809)Cat>Tat p.H603Y ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.H603Y|ZFP90_uc002ewe.3_Missense_Mutation_p.H603Y NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA. 603 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H603H(1) breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) TCAGAGAATTCATACTGGAGA 0.398000 76 50 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723273 58723273 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:58723273G>A uc001nnh.2 + 6 825 c.775G>A c.(775-777)Gaa>Aaa p.E259K GLYATL1_uc001nnf.3_Missense_Mutation_p.E228K|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.E228K|GLYATL1_uc001nnj.2_Missense_Mutation_p.E228K NM_080661 NP_542392 Q969I3 GLYL1_HUMAN Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA. 228 mitochondrion glycine N-acyltransferase activity p.E259K(2) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CCCTTCTTGTGAAGTAGGAAT 0.512000 25 9 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904272 55904272 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:55904272G>A uc010riz.2 - 0 923 c.923C>T c.(922-924)cCa>cTa p.P308L NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA. 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GGAGTAACATGGATTTTCCAT 0.313000 52 17 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31609544 31609544 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:31609544G>A uc002wyj.3 + 14 1468 c.1274G>A c.(1273-1275)gGa>gAa p.G425E NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA. 425 extracellular region lipid binding TTGGCCATGGGAATTGCCCTC 0.577000 58 60 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26291180 26291180 + Missense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:26291180A>T uc003abz.1 + 27 4851 c.4601A>T c.(4600-4602)aAg>aTg p.K1534M MYO18B_uc003aca.1_Missense_Mutation_p.K1415M|MYO18B_uc010guy.1_Missense_Mutation_p.K1416M|MYO18B_uc010guz.1_Missense_Mutation_p.K1414M|MYO18B_uc011aka.1_Missense_Mutation_p.K688M|MYO18B_uc011akb.1_Missense_Mutation_p.K1047M NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1534 Tail. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity p.L1533H(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TTCCTCAGAAAGCGTCTGCAG 0.542000 7 9 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38835492 38835492 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:38835492G>A uc003ciq.3 - 0 10 c.10C>T c.(10-12)Ccc>Tcc p.P4S NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 4 sensory perception voltage-gated sodium channel complex p.P4P(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GATCCAATGGGGAATTCCATC 0.473000 49 49 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1392722 1392722 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:1392722G>A uc002clk.2 + 12 1331 c.1173G>A c.(1171-1173)agG>agA p.R391R BAIAP3_uc010uuz.2_Silent_p.R356R|BAIAP3_uc010uva.2_Silent_p.R328R|BAIAP3_uc021tag.1_Silent_p.R333R|BAIAP3_uc002clj.3_Silent_p.R373R|BAIAP3_uc010uvc.1_Silent_p.R320R NM_003933 NP_001186026 O94812 BAIP3_HUMAN Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA. 391 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CGTTGCAGAGGGATACGGCCA 0.667000 18 7 0 0 1 0 0 SS18 6760 broad.mit.edu 37 18 23612379 23612379 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:23612379G>A uc002kvm.3 - 9 1292 c.1214C>T c.(1213-1215)cCt>cTt p.P405L SS18_uc002kvn.3_Missense_Mutation_p.P374L|SS18_uc010xbf.2_Missense_Mutation_p.P323L|SS18_uc010xbg.2_Missense_Mutation_p.P322L|SS18_uc010xbh.2_Missense_Mutation_p.P322L|SS18_uc010xbi.2_Missense_Mutation_p.P382L NM_001007559 NP_001007560 Q15532 SSXT_HUMAN Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA. 405 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) ATATCCATAAGGCCTCTGCTG 0.458000 T """SSX1, SSX2""" synovial sarcoma 79 43 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 659046 659046 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:659046C>T uc003gap.3 + 18 2249 c.2196C>T c.(2194-2196)gtC>gtT p.V732V PDE6B_uc003gao.4_Silent_p.V732V|PDE6B_uc011buy.2_Silent_p.V453V|PDE6B_uc011buz.2_Silent_p.V164V NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 732 GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GCCTCCAGGTCGCACTTCTCG 0.632000 30 16 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7645637 7645637 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:7645637C>T uc003srf.3 + 11 2774 c.2466C>T c.(2464-2466)aaC>aaT p.N822N MIOS_uc003srg.3_Silent_p.N357N|MIOS_uc010ktq.3_Silent_p.N217N NM_019005 NP_061878 Q9NXC5 MIO_HUMAN Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA. 822 p.N822N(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AATTTAACAACTGGTTTACAT 0.378000 66 31 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10435015 10435015 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:10435015C>T uc010coi.3 - 21 2760 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E878K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 878 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E878G(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCTTCCAGTTCCTTCCTTTTT 0.423000 59 24 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212286822 212286822 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:212286822C>T uc002veg.1 - 23 2972 c.2874G>A c.(2872-2874)atG>atA p.M958I ERBB4_uc002veh.1_Missense_Mutation_p.M958I|ERBB4_uc010zji.1_Missense_Mutation_p.M948I|ERBB4_uc010zjj.1_Missense_Mutation_p.M948I NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 958 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CAGCATCAATCATCCAACCTG 0.353000 TSP Lung(8;0.080) 36 11 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993339 140993339 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chrX:140993339C>T uc004fbt.3 + 3 473 c.149C>T c.(148-150)cCt>cTt p.P50L MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 50 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ACCCTGTATCCTCTCCAGAGT 0.587000 HNSCC(15;0.026) 15 41 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57354177 57354177 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:57354177G>A uc003xsz.2 - 1 539 c.458C>T c.(457-459)tCc>tTc p.S153F PENK_uc003xta.3_Missense_Mutation_p.S153F NM_006211 NP_006202 P01210 PENK_HUMAN Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA. 153 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity p.S153C(2) central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CAGGTCTGAGGAATTGGCCAG 0.527000 94 30 0 0 1 0 0 C7orf57 136288 broad.mit.edu 37 7 48092454 48092454 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:48092454G>A uc003toh.4 + 6 975 c.763G>A c.(763-765)Gaa>Aaa p.E255K C7orf57_uc003toi.4_Missense_Mutation_p.E113K NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA. 255 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 ACGAGACCTGGAAGGTCCCCA 0.577000 23 16 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459672 142459672 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142459672G>A uc003wak.2 + 2 265 c.248G>A c.(247-249)gGg>gAg p.G83E TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.G23E NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 83 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GTCCTGGAGGGGAATGAGCAG 0.542000 156 59 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503762 140503762 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:140503762G>A uc003lip.1 + 0 2182 c.2182G>A c.(2182-2184)Gag>Aag p.E728K NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 728 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGGTGCCCGAGGGCCCCTT 0.667000 151 68 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119044791 119044791 + Silent SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:119044791A>G uc001lde.1 - 4 1652 c.1453T>C c.(1453-1455)Ttg>Ctg p.L485L NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN Homo sapiens PDZ domain containing 8 (PDZD8), mRNA. 485 intracellular signal transduction metal ion binding p.G484W(1) kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TCTACTGTCAACCCGGCAGCT 0.428000 94 48 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95372583 95372583 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:95372583G>A uc001kiu.4 + 0 239 c.101G>A c.(100-102)gGa>gAa p.G34E NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 34 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GAGGTGCTGGGAGAAATCTTC 0.552000 76 43 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62291225 62291225 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:62291225G>A uc001ntl.3 - 4 10964 c.10664C>T c.(10663-10665)cCc>cTc p.P3555L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 3555 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTCACCTTGGGGCCTTTCAA 0.468000 180 67 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134219612 134219612 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:134219612G>A uc001lll.4 + 1 1637 c.1608G>A c.(1606-1608)acG>acA p.T536T PWWP2B_uc009ybe.3_Intron NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA. 536 PWWP. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CTCCGACTACGTCGTTCTTGT 0.498000 50 6 0 0 1 0 0 DOK3 79930 broad.mit.edu 37 5 176931915 176931915 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:176931915C>T uc003mhk.3 - 5 646 c.641_splice c.e5-1 p.V214_splice DOK3_uc003mhh.4_Splice_Site_p.V44_splice|DOK3_uc003mhi.4_Splice_Site_p.V158_splice|DOK3_uc003mhj.4_Splice_Site_p.V56_splice NM_024872 NP_079148 Q7L591 DOK3_HUMAN Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA. 214 IRS-type PTB. cytoplasm|plasma membrane insulin receptor binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7) 13 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GAAACTCGCCCACTGTGGCAG 0.672000 31 12 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939081 2939081 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:2939081G>A uc001ajz.3 + 0 1036 c.831G>A c.(829-831)tcG>tcA p.S277S NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN Homo sapiens actin-related protein T2 (ACTRT2), mRNA. 277 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCGGGCTCTCGAATATGGTCT 0.642000 28 40 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7716939 7716939 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:7716939C>T uc003gkb.4 + 16 2153 c.2153C>T c.(2152-2154)tCa>tTa p.S718L SORCS2_uc011bwi.2_Missense_Mutation_p.S546L NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA. 718 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 TCCTCCTCCTCAGAGTCCAGC 0.602000 86 87 0 0 1 0 0 C6orf201 404220 broad.mit.edu 37 6 4099346 4099346 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:4099346C>T uc003mwa.4 + 2 966 c.198C>T c.(196-198)atC>atT p.I66I C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Silent_p.I66I|C6orf201_uc003mwb.4_Non-coding_Transcript NM_001085401 NP_001078870 Q7Z4U5 CF201_HUMAN Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA. 66 central_nervous_system(1)|endometrium(3)|lung(2) 6 Ovarian(93;0.0925) all_hematologic(90;0.0895) AAAGAAAAATCATCAACAATG 0.418000 66 52 0 0 1 0 0 TMEM176B 28959 broad.mit.edu 37 7 150490274 150490274 + Missense_Mutation SNP C G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:150490274C>G uc022apx.1 - 3 628 c.502G>C c.(502-504)Gac>Cac p.D168H TMEM176B_uc003whu.4_Missense_Mutation_p.D168H|TMEM176B_uc003whv.4_Missense_Mutation_p.D131H|TMEM176B_uc003whw.4_Missense_Mutation_p.D168H NM_014020 NP_054739 Q3YBM2 T176B_HUMAN Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA. 168 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGACAGGGTCTGAGCGATCA 0.502000 46 31 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242142881 242142881 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:242142881G>A uc002wax.2 + 8 1122 c.1019G>A c.(1018-1020)gGg>gAg p.G340E NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA. 340 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 AGGTACTTCGGGGAGAAGGTG 0.647000 8 3 0 0 1 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33052751 33052751 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:33052751C>T uc003ocu.2 + 2 505 c.389C>T c.(388-390)cCc>cTc p.P130L HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Missense_Mutation_p.P26L NM_002121 NP_002112 P04440 DPB1_HUMAN Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA. 130 Beta-2.|Ig-like C1-type. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 AATGTTTCCCCCTCCAAGAAG 0.493000 99 72 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78516487 78516487 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:78516487C>T uc001ozl.4 - 14 2492 c.2029G>A c.(2029-2031)Gaa>Aaa p.E677K NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 677 EGF-like 4. signal transduction integral to membrane p.G676G(1) breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 CAGTGGCATTCGCCTCTCACG 0.592000 9 6 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20999054 20999054 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:20999054C>T uc010vbe.2 - 45 6843 c.6843G>A c.(6841-6843)gtG>gtA p.V2281V DNAH3_uc010vbd.2_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2281 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCCCTTGAATCACTCGTGAGA 0.463000 50 18 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655948 40655948 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:40655948G>A uc002rrx.3 - 0 1497 c.1473C>T c.(1471-1473)ttC>ttT p.F491F SLC8A1_uc002rry.3_Silent_p.F491F|SLC8A1_uc002rsb.2_Silent_p.F491F|SLC8A1_uc002rrz.3_Silent_p.F491F|SLC8A1_uc002rsa.3_Silent_p.F491F|SLC8A1_uc002rsd.4_Silent_p.F491F|SLC8A1_uc010fan.1_Silent_p.F491F|SLC8A1_uc002rsc.1_Silent_p.F491F NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 491 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GATGCACAAGGAAATTTTCAT 0.418000 26 8 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252919 124252919 + Silent SNP G A A rs2320234 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:124252919G>A uc010sai.2 - 0 321 c.321C>T c.(319-321)ttC>ttT p.F107F NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA. 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F107F(2)|p.F106L(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CAGAGATGACGAAAAAGAGAA 0.398000 17 45 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52964490 52964490 + Missense_Mutation SNP T C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:52964490T>C uc001sap.1 - 4 1019 c.971A>G c.(970-972)aAg>aGg p.K324R NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN Homo sapiens keratin 74 (KRT74), mRNA. 324 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GGCCTTGCTCTTCAGGGCGAT 0.602000 38 29 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5687656 5687656 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:5687656G>A uc001qnm.2 - 21 2334 c.2262C>T c.(2260-2262)ttC>ttT p.F754F NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 759 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity p.F754F(1)|p.F755F(1) central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 AGGAGGCCACGAAGAGGGTGA 0.552000 14 11 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134244587 134244587 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:134244587C>T uc001qhp.3 + 17 1987 c.1799C>T c.(1798-1800)cCc>cTc p.P600L GLB1L2_uc009zdg.1_Non-coding_Transcript NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA. 600 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CTCCCAGGTCCCTGGTTGAGC 0.592000 43 95 0 0 1 0 0 FOXH1 8928 broad.mit.edu 37 8 145700198 145700198 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:145700198C>T uc003zdc.3 - 2 1100 c.521G>A c.(520-522)gGa>gAa p.G174E NM_003923 NP_003914 O75593 FOXH1_HUMAN Homo sapiens forkhead box H1 (FOXH1), mRNA. 174 axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|R-SMAD binding|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCCGGACCCTCCTAGCAGGGA 0.711000 15 17 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24921836 24921836 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:24921836G>A uc001ywo.3 + 0 1296 c.822G>A c.(820-822)caG>caA p.Q274Q NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 274 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TGCTGCAGCAGAAGTTGGCTG 0.617000 36 21 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54841844 54841844 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr15:54841844G>A uc021smr.1 + 25 5826 c.5826G>A c.(5824-5826)atG>atA p.M1942I UNC13C_uc021sms.1_Missense_Mutation_p.M1944I NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1944 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GACCCCAGATGATTTTCATTG 0.318000 45 28 0 0 1 0 0 TMEM176B 28959 broad.mit.edu 37 7 150488694 150488694 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:150488694C>T uc022apx.1 - 5 864 c.738G>A c.(736-738)gaG>gaA p.E246E TMEM176B_uc003whu.4_Silent_p.E246E|TMEM176B_uc003whv.4_Silent_p.E209E|TMEM176B_uc003whw.4_Silent_p.E246E NM_014020 NP_054739 Q3YBM2 T176B_HUMAN Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA. 246 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTAGCCTCTTCTCTGATCCTT 0.502000 20 14 0 0 1 0 0 ALG14 199857 broad.mit.edu 37 1 95538398 95538398 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:95538398G>A uc001dra.2 - 0 110 c.57C>T c.(55-57)atC>atT p.I19I NM_144988 NP_659425 Q96F25 ALG14_HUMAN Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA. 19 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 6 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.0615)|Epithelial(280;0.139) ATATTCGCAGGATTAGGAAAA 0.587000 95 29 0 0 1 0 0 CCDC113 29070 broad.mit.edu 37 16 58313613 58313613 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:58313613C>T uc002ene.3 + 8 1145 c.1066C>T c.(1066-1068)Cgt>Tgt p.R356C CCDC113_uc010vid.2_Missense_Mutation_p.R302C NM_014157 NP_054876 Q9H0I3 CC113_HUMAN Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA. 356 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 AAAAGGCCATCGTAAGGCTTG 0.428000 16 9 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29293945 29293946 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:29293945_29293946GG>AA uc002rmt.2 - 0 3182_3183 c.3182_3183CC>TT c.(3181-3183)ccc>cTT p.P1061L NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 1061 Pro-rich. response to stimulus|visual perception photoreceptor outer segment p.P1060P(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GTGCACTCTCGGGGGGAGGGTT 0.668000 47 42 0 0 1 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045721 142045721 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:142045721C>T uc003vxp.4 + 1 358 c.249C>T c.(247-249)ttC>ttT p.F83F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CAAGTCGCTTCTCACCTGAAT 0.483000 187 47 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133747523 133747523 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:133747523C>T uc004bzw.3 + 4 833 c.830C>T c.(829-831)aCc>aTc p.T277I ABL1_uc004bzv.3_Missense_Mutation_p.T296I NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 277 Protein kinase. DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding p.D276G(11)|p.T277A(4) breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CAGGAGGACACCATGGAGGTG 0.458000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 30 15 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100349108 100349108 + Missense_Mutation SNP C T T rs72552718 TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:100349108C>T uc003huv.2 - 4 663 c.422G>A c.(421-423)aGa>aAa p.R141K ADH7_uc021xqj.1_Missense_Mutation_p.R149K NM_000673 NP_000664 P40394 ADH7_HUMAN Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA. 141 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) GCATGTAAATCTGGTGGTGCC 0.383000 69 43 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43110413 43110413 + Missense_Mutation SNP C T T rs141315303 by1000genomes TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:43110413C>T uc009vwk.1 + 12 1935 c.1825C>T c.(1825-1827)Cgt>Tgt p.R609C CCDC30_uc001chm.2_Missense_Mutation_p.R307C|CCDC30_uc001chn.2_Missense_Mutation_p.R398C NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA. 609 p.R609H(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AAATAGTCTTCGTCTCACACA 0.388000 42 39 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61306490 61306490 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:61306490C>T uc002ljf.3 - 6 783 c.697G>A c.(697-699)Gaa>Aaa p.E233K SERPINB3_uc002lje.3_Missense_Mutation_p.E212K|SERPINB3_uc002ljg.3_Intron NM_002974 NP_002965 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA. 233 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.E233K(1)|p.L232_Y236>H(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TATGGTATTTCCAGGACCTTG 0.398000 38 25 0 0 1 0 0 C9orf174 100499483 broad.mit.edu 37 9 100076902 100076902 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:100076902C>T uc011lut.2 + 20 2146 c.1140C>T c.(1138-1140)gcC>gcT p.A380A C9orf174_uc004axe.2_Silent_p.A380A|C9orf174_uc011lus.2_Silent_p.A198A|C9orf174_uc004axg.2_Silent_p.A241A|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Silent_p.A241A|C9orf174_uc011luv.1_Silent_p.A238A NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 380 integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 CTGCGTAGGCCCTGCTGGAGC 0.632000 27 12 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22447209 22447209 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:22447209C>T uc010tmm.2 + 1 382 c.190C>T c.(190-192)Cag>Tag p.Q64* TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript Homo sapiens mRNA for unknown variable region, clone: SEB 74. CCAAGGACTCCAGCTTCTCCT 0.463000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 97 43 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73490925 73490925 + Missense_Mutation SNP T A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr14:73490925T>A uc001xnm.3 - 1 1013 c.292A>T c.(292-294)Aac>Tac p.N98Y ZFYVE1_uc010arj.3_Missense_Mutation_p.N98Y NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA. 98 Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) AGGCACAAGTTAATTTTGCAG 0.507000 157 97 0 0 1 0 0 INHA 3623 broad.mit.edu 37 2 220439993 220439993 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:220439993C>T uc002vmk.2 + 1 989 c.846C>T c.(844-846)taC>taT p.Y282Y NM_002191 NP_002182 P05111 INHA_HUMAN Homo sapiens inhibin, alpha (INHA), mRNA. 282 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGATCGTGTACCCTCCCAGTT 0.612000 58 23 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137697031 137697031 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:137697031G>A uc004cfe.3 + 40 3611 c.3229G>A c.(3229-3231)Gaa>Aaa p.E1077K NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1077 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAAAGGCAATGAAGGGCCCCC 0.587000 44 24 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99514396 99514396 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:99514396G>A uc003dti.1 + 2 1782 c.1654G>A c.(1654-1656)Ggt>Agt p.G552S MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G551S|COL8A1_uc003dth.1_Missense_Mutation_p.G551S NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 551 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 TGGTGCCCTTGGTCCTCAAGG 0.682000 5 9 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201009482 201009482 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:201009482G>A uc001gvv.3 - 42 5474 c.5247C>T c.(5245-5247)tcC>tcT p.S1749S NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 1749 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTCAGGCATGGAGGACTCCA 0.562000 23 6 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764918 92764918 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:92764918G>A uc003umh.1 - 4 1583 c.367C>T c.(367-369)Ccc>Tcc p.P123S SAMD9L_uc003umj.1_Missense_Mutation_p.P123S|SAMD9L_uc003umi.1_Missense_Mutation_p.P123S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P123S|SAMD9L_uc003umk.1_Missense_Mutation_p.P123S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P123S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P123S|SAMD9L_uc022ahh.1_Missense_Mutation_p.P123S NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 123 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) ATCTCTCTGGGATCATAATCA 0.313000 31 8 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72992340 72992340 + Missense_Mutation SNP G A A rs148894513 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:72992340G>A uc002fck.3 - 1 2378 c.1705C>T c.(1705-1707)Cgt>Tgt p.R569C ZFHX3_uc002fcl.3_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 569 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AAGCTTAAACGATTCCTCCTG 0.517000 49 34 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 32091189 32091189 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:32091189C>T uc003tcm.2 - 1 566 c.105G>A c.(103-105)agG>agA p.R35R PDE1C_uc003tcn.1_Silent_p.R35R|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Silent_p.R35R|PDE1C_uc003tcs.3_Silent_p.R35R NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 35 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TCTTATATTTCCTCCTGTAAG 0.468000 22 10 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32745577 32745577 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:32745577G>A uc001bux.3 + 10 1315 c.1177G>A c.(1177-1179)Gag>Aag p.E393K LCK_uc001buy.3_Missense_Mutation_p.E393K|LCK_uc001buz.3_Missense_Mutation_p.E423K|LCK_uc010ohc.1_Missense_Mutation_p.E437K|LCK_uc001bva.3_Missense_Mutation_p.E400K NM_005356 NP_005347 P06239 LCK_HUMAN Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA. 393 Protein kinase. T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) TGAGGACAACGAGTACACAGC 0.557000 T TRB@ T-ALL 28 41 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122676082 122676082 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:122676082G>A uc009zxm.3 + 5 1082 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K LRRC43_uc001ubw.4_Missense_Mutation_p.E168K|LRRC43_uc009zxn.3_Missense_Mutation_p.E114K NM_001098519 NP_689972 Q8N309 LRC43_HUMAN Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA. 353 Glu-rich. NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TGAAGAAGGCGAAATGAATGA 0.552000 OREG0022219 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 34 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28963961 28963961 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr13:28963961G>A uc001usb.3 - 12 2226 c.1941C>T c.(1939-1941)atC>atT p.I647I FLT1_uc010aar.1_Silent_p.I647I|FLT1_uc001usc.3_Silent_p.I647I|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Silent_p.I130I NM_002019 NP_002010 P17948 VGFR1_HUMAN Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA. 647 Ig-like C2-type 6. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway Golgi apparatus|extracellular space|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TCTTCTGGAGGATTTCTTCCC 0.423000 119 34 0 0 1 0 0 S100A7A 338324 broad.mit.edu 37 1 153391697 153391697 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:153391697C>T uc001fbt.1 + 2 275 c.218C>T c.(217-219)tCt>tTt p.S73F NM_176823 NP_789793 Q86SG5 S1A7A_HUMAN Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA. 73 EF-hand 2. cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) ATTGATTTTTCTGAGTTTCTG 0.483000 34 35 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136578247 136578247 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:136578247C>T uc004cep.4 - 9 1285 c.1151_splice c.e9-1 p.E384_splice SARDH_uc004ceo.3_Splice_Site_p.E384_splice|SARDH_uc011mdo.2_Splice_Site_p.E216_splice|SARDH_uc011mdn.2_Splice_Site_p.E384_splice NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 384 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTGAAGGATTCTGAAAGAAGG 0.602000 8 6 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176927615 176927615 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:176927615G>A uc001glc.3 - 9 1814 c.1602C>T c.(1600-1602)ttC>ttT p.F534F ASTN1_uc001glb.1_Silent_p.F534F|ASTN1_uc001gld.1_Silent_p.F534F|ASTN1_uc009wwx.1_Silent_p.F534F NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 542 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GAGTGTAGGTGAATCTGCAGG 0.552000 7 12 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35792540 35792540 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:35792540C>T uc003jjo.3 + 30 4657 c.4546C>T c.(4546-4548)Caa>Taa p.Q1516* SPEF2_uc003jjp.1_Nonsense_Mutation_p.Q1002*|SPEF2_uc003jjr.3_Nonsense_Mutation_p.Q571* NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1516 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCACCTTACCCAACCTGAAGT 0.353000 121 26 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507777 155507777 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:155507777C>T uc003iod.1 - 4 862 c.804G>A c.(802-804)gaG>gaA p.E268E FGA_uc003ioe.1_Silent_p.E268E|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 268 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTCGAGTAATCTCATTTCCAC 0.522000 55 63 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183217608 183217608 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:183217608G>A uc003flr.3 - 3 975 c.917C>T c.(916-918)tCg>tTg p.S306L KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Intron NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA. 306 p.S306L(2) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GGTGCGTTCCGAAATGATCTG 0.527000 17 21 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128176241 128176241 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:128176241C>T uc011ebt.2 - 1 333 c.184G>A c.(184-186)Gaa>Aaa p.E62K THEMIS_uc010kfa.3_5'UTR|THEMIS_uc021zfa.1_Missense_Mutation_p.E62K|THEMIS_uc010kfb.3_Missense_Mutation_p.E27K NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 62 CABIT 1. T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCACAAATTTCAGCTATGATC 0.358000 5 26 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28119464 28119464 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:28119464G>A uc001msc.2 - 1 213 c.31C>T c.(31-33)Cat>Tat p.H11Y KIF18A_uc001msd.3_Missense_Mutation_p.H11Y NM_031217 NP_112494 Q8NI77 KI18A_HUMAN Homo sapiens kinesin family member 18A (KIF18A), mRNA. 11 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 ACTTTCATATGGTGGCACAGG 0.338000 109 35 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32959914 32959914 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:32959914C>T uc002hif.3 + 6 1732 c.1404C>T c.(1402-1404)atC>atT p.I468I NM_207313 NP_997196 Q6IEE7 T132E_HUMAN Homo sapiens transmembrane protein 132E (TMEM132E), mRNA. 468 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GGGTACCTATCCTCCCCGACC 0.582000 129 41 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106907399 106907399 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr10:106907399G>A uc001kyi.1 + 8 1554 c.1327G>A c.(1327-1329)Gag>Aag p.E443K NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 443 integral to membrane neuropeptide receptor activity p.E443G(1)|p.D442D(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAGTACAGACGAGAACCAAGT 0.473000 40 13 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13716600 13716600 + Missense_Mutation SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:13716600A>G uc003jfd.2 - 73 12947 c.12905T>C c.(12904-12906)aTc>aCc p.I4302T DNAH5_uc003jfc.2_Missense_Mutation_p.I470T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4302 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACAAACCTGGATATACTGAAG 0.333000 Kartagener syndrome 37 12 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978750 41978750 + Nonsense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:41978750G>A uc001cgz.4 - 7 7355 c.6142C>T c.(6142-6144)Cga>Tga p.R2048* HIVEP3_uc001cha.4_Nonsense_Mutation_p.R2048*|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 2048 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) ACATGTGCTCGAGGGGCCAGT 0.637000 51 17 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170063416 170063416 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:170063416G>A uc002ues.3 - 38 7027 c.6814C>T c.(6814-6816)Cgt>Tgt p.R2272C NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2272 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity p.R2272C(2) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTGCCATAACGAATCACTTCA 0.393000 50 36 0 0 1 0 0 ATF5 22809 broad.mit.edu 37 19 50435808 50435808 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:50435808C>T uc010enq.2 + 3 890 c.308C>T c.(307-309)tCc>tTc p.S103F IL4I1_uc002pqu.2_5'Flank|IL4I1_uc010eno.2_5'Flank|IL4I1_uc002pqv.2_5'Flank|NUP62_uc002pqy.3_5'Flank|NUP62_uc002pra.3_5'Flank|NUP62_uc002pqz.3_5'Flank|NUP62_uc002prc.3_5'Flank|ATF5_uc002prd.3_Missense_Mutation_p.S103F|ATF5_uc021uyb.1_5'Flank NM_012068 NP_036200 Q9Y2D1 ATF5_HUMAN Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA. 103 regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) GCTATGGCCTCCCTCCTCAAG 0.627000 36 18 0 0 1 0 0 UBA52 7311 broad.mit.edu 37 19 18685735 18685735 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:18685735C>T uc002njr.3 + 3 360 c.246C>T c.(244-246)ctC>ctT p.L82L UBA52_uc002njs.3_Silent_p.L82L|UBA52_uc021uqs.1_5'Flank NM_001033930 NP_003324 P62987 RL40_HUMAN Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA. 82 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 AGCCTTCTCTCCGCCAGCTTG 0.617000 33 12 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 40998729 40998729 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:40998729C>T uc003jmj.4 - 40 5126 c.4636G>A c.(4636-4638)Gaa>Aaa p.E1546K HEATR7B2_uc003jmi.4_Missense_Mutation_p.E1101K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1546 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 GTCAGTTGTTCTCTGTCTAGT 0.393000 3 6 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815664 106815664 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:106815664G>A uc003ymd.3 + 7 3377 c.3354G>A c.(3352-3354)ggG>ggA p.G1118G ZFPM2_uc011lhs.2_Silent_p.G849G NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 1118 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAACCAGTGGGAAATATTGCC 0.428000 17 17 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24565570 24565570 + Missense_Mutation SNP T G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:24565570T>G uc002wtw.1 + 2 1192 c.559T>G c.(559-561)Ttc>Gtc p.F187V NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA. 187 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 CCTCAGTGTCTTCTCCATGCT 0.577000 95 35 0 0 1 0 0 CCBP2 1238 broad.mit.edu 37 3 42906414 42906414 + Silent SNP G A A rs138793399 byFrequency TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:42906414G>A uc003cme.3 + 2 598 c.420G>A c.(418-420)ctG>ctA p.L140L CCBP2_uc003cmf.3_Silent_p.L140L|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.L140L NM_001296 NP_001287 O00590 CCBP2_HUMAN Homo sapiens chemokine binding protein 2 (CCBP2), mRNA. 140 chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1) 26 KIRC - Kidney renal clear cell carcinoma(284;0.241) GCATGAGCCTGGACAAGTACC 0.512000 120 26 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121445791 121445791 + Missense_Mutation SNP A G G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:121445791A>G uc010hrc.3 - 4 626 c.500T>C c.(499-501)cTt>cCt p.L167P GOLGB1_uc003eei.4_Missense_Mutation_p.L167P|GOLGB1_uc003eej.4_Missense_Mutation_p.L128P|GOLGB1_uc021xcy.1_Missense_Mutation_p.L128P|GOLGB1_uc011bjm.1_Missense_Mutation_p.L128P|GOLGB1_uc010hrd.1_Missense_Mutation_p.L167P NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 167 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.Q166H(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TGCCTGAGTAAGCTGGGCTTG 0.413000 65 30 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135678 156135678 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:156135678C>T uc003ioq.3 + 1 1076 c.587C>T c.(586-588)cCg>cTg p.P196L NPY2R_uc003ior.3_Missense_Mutation_p.P196L|NPY2R_uc021xtm.1_Missense_Mutation_p.P196L NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 196 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GAGATCATCCCGGACTTTGAG 0.507000 70 76 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41007838 41007838 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:41007838G>A uc002ony.3 + 7 881 c.795G>A c.(793-795)atG>atA p.M265I SPTBN4_uc002onx.3_Missense_Mutation_p.M265I|SPTBN4_uc002onz.3_Missense_Mutation_p.M265I NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 265 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ATGTGAACATGGAGGCTCCAG 0.512000 113 51 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134890723 134890723 + Missense_Mutation SNP G T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:134890723G>T uc003vsp.2 - 4 744 c.682C>A c.(682-684)Cct>Act p.P228T WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_5'UTR NM_014149 NP_054868 A4D1P6 WDR91_HUMAN Homo sapiens WD repeat domain 91 (WDR91), mRNA. 228 p.L227F(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 ACATAAGGAGGCAATTTGTGT 0.527000 91 39 1.06522e-23 1.07708e-23 1 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14763875 14763875 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr18:14763875G>A uc010dlo.2 + 6 1191 c.1011G>A c.(1009-1011)agG>agA p.R337R ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.R337R NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 337 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AAACACCTAGGAAAATTTTGA 0.418000 4 7 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139910619 139910619 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:139910619G>A uc004ckm.1 - 21 3249 c.3199C>T c.(3199-3201)Ctg>Ttg p.L1067L ABCA2_uc022bpy.1_Silent_p.L968L|ABCA2_uc022bpz.1_Silent_p.L1038L|ABCA2_uc011mem.1_Silent_p.L1037L|ABCA2_uc004ckl.1_Silent_p.L968L|ABCA2_uc004ckn.1_Non-coding_Transcript NM_212533 NP_997698 Q9BZC7 ABCA2_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA. 1037 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AGGCCGGTCAGGATGGACCTG 0.657000 39 29 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13811895 13811895 + Missense_Mutation SNP A T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:13811895A>T uc003jfd.2 - 43 7310 c.7268T>A c.(7267-7269)aTt>aAt p.I2423N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2423 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGACGAAGAATTTCTGCTTC 0.423000 Kartagener syndrome 57 29 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62676102 62676102 + Silent SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:62676102C>A uc021ooc.1 + 4 2091 c.1656C>A c.(1654-1656)acC>acA p.T552T L1TD1_uc001dae.4_Silent_p.T552T NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 552 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 CCTGTCTGACCTTATGTTTGG 0.453000 41 52 2.41709e-19 2.43891e-19 1 1 0 PSG4 5672 broad.mit.edu 37 19 43699285 43699285 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:43699285G>A uc002ovy.3 - 3 952 c.850C>T c.(850-852)Ccc>Tcc p.P284S PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.P191S NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 284 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TTTACCCTGGGACTGACAGGG 0.458000 162 95 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377447 113377447 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:113377447G>A uc003eam.3 - 6 3493 c.3082C>T c.(3082-3084)Cat>Tat p.H1028Y KIAA2018_uc003eal.3_Missense_Mutation_p.H972Y NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN Homo sapiens KIAA2018 (KIAA2018), mRNA. 1028 regulation of transcription, DNA-dependent membrane|nucleus DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AAGTCAGGATGATCCATCTGA 0.353000 83 34 0 0 1 0 0 C9orf117 286207 broad.mit.edu 37 9 130471740 130471740 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:130471740G>A uc004brn.1 + 1 241 c.201G>A c.(199-201)aaG>aaA p.K67K PTRH1_uc004brm.3_Intron|C9orf117_uc010mxl.1_Non-coding_Transcript NM_001012502 NP_001012520 Q5JU67 CI117_HUMAN Homo sapiens chromosome 9 open reading frame 117 (C9orf117), mRNA. 67 breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 TGCAGGAGAAGATGTTCCGCC 0.607000 9 16 0 0 1 0 0 ATG4B 23192 broad.mit.edu 37 2 242606102 242606102 + Missense_Mutation SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:242606102C>A uc002wbv.3 + 7 684 c.581C>A c.(580-582)gCg>gAg p.A194E ATG4B_uc002wbu.3_Missense_Mutation_p.A120E|ATG4B_uc002wbw.3_Missense_Mutation_p.A194E|ATG4B_uc010zox.2_Missense_Mutation_p.A180E|ATG4B_uc010zoy.2_Missense_Mutation_p.A120E|ATG4B_uc010fzp.3_Missense_Mutation_p.A194E|ATG4B_uc010zoz.2_Missense_Mutation_p.A120E|ATG4B_uc002wby.3_5'Flank NM_013325 NP_037457 Q9Y4P1 ATG4B_HUMAN Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA. 194 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) GGCGCCACTGCGTTTCCTGCA 0.582000 6 10 0.010729 0.0107587 1 1 0 MCAT 27349 broad.mit.edu 37 22 43533179 43533179 + Nonsense_Mutation SNP C A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr22:43533179C>A uc003bdl.1 - 2 686 c.637G>T c.(637-639)Gaa>Taa p.E213* MCAT_uc003bdm.1_Intron NM_173467 NP_775738 Q8IVS2 FABD_HUMAN Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 213 fatty acid biosynthetic process mitochondrion [acyl-carrier-protein] S-malonyltransferase activity|binding breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 11 Ovarian(80;0.0694) TTGCAGTGTTCCCGGGCTTCC 0.537000 OREG0026613 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 100 65 2.54232e-27 2.57241e-27 1 1 0 HYDIN 54768 broad.mit.edu 37 16 70993661 70993661 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:70993661G>A uc002ezr.3 - 38 6179 c.6028C>T c.(6028-6030)Cca>Tca p.P2010S NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2011 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTGCTCACTGGGTTGTTTTCC 0.498000 22 4 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43530502 43530502 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:43530502G>A uc002ovm.1 - 0 130 c.23C>T c.(22-24)cCc>cTc p.P8L PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.P8L|PSG11_uc002ovo.1_Missense_Mutation_p.P8L NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA. 8 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) CTCTGTGCAGGGAGGGGCTGA 0.587000 114 23 0 0 1 0 0 RSPH1 89765 broad.mit.edu 37 21 43896032 43896032 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:43896032C>T uc002zbg.3 - 7 958 c.853G>A c.(853-855)Gag>Aag p.E285K NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA. 285 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 TAGCGGAACTCCTCCTGGTCA 0.622000 50 26 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38995000 38995000 + Splice_Site SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:38995000G>A uc002oit.3 + 50 8197 c.8067_splice c.e50+1 p.K2689_splice RYR1_uc002oiu.3_Splice_Site_p.K2689_splice|RYR1_uc002oiv.1_Splice_Site NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2689 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGGCCCATAAGGTCTGGGCAG 0.582000 23 10 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8009853 8009853 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:8009853G>A uc003gko.3 - 14 1592 c.1449C>T c.(1447-1449)tcC>tcT p.S483S ABLIM2_uc003gkk.3_Silent_p.S147S|ABLIM2_uc003gkl.3_Silent_p.S211S|ABLIM2_uc003gkm.4_Silent_p.S431S|ABLIM2_uc003gkp.3_Silent_p.S442S|ABLIM2_uc003gkq.3_Silent_p.S483S|ABLIM2_uc003gkr.3_Silent_p.S432S|ABLIM2_uc003gkj.4_Silent_p.S517S|ABLIM2_uc003gks.3_Silent_p.S443S NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA. 483 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 TGTGGGACAAGGACTGGGTGT 0.537000 70 60 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587418 42587418 + Missense_Mutation SNP G A A rs144578245 by1000genomes TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:42587418G>A uc003xpi.1 + 4 1096 c.968G>A c.(967-969)aGa>aAa p.R323K NM_000749 NP_000740 Q05901 ACHB3_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA. 323 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) GTTCACCACAGATCTTCTTCC 0.448000 100 98 0 0 1 0 0 S100A2 6273 broad.mit.edu 37 1 153534067 153534067 + Splice_Site SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:153534067C>T uc001fcb.3 - 3 480 c.142_splice c.e3-1 p.E48_splice NM_005978 NP_005969 P29034 S10A2_HUMAN Homo sapiens S100 calcium binding protein A2 (S100A2), mRNA. 49 EF-hand 1. endothelial cell migration calcium ion binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCCACTTTCTCCTGAAAGTGA 0.547000 203 69 0 0 1 0 0 FTMT 94033 broad.mit.edu 37 5 121187768 121187768 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:121187768C>T uc003kss.3 + 0 119 c.110C>T c.(109-111)cCc>cTc p.P37L NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA. 37 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) CCGGGGCGCCCCTTGGACCCC 0.776000 3 7 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23810627 23810627 + Nonsense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:23810627C>T uc003sws.4 + 13 1784 c.1717C>T c.(1717-1719)Caa>Taa p.Q573* STK31_uc003swt.4_Nonsense_Mutation_p.Q550*|STK31_uc011jze.2_Nonsense_Mutation_p.Q573*|STK31_uc010kuq.3_Nonsense_Mutation_p.Q550* NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 573 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CATTTAGGATCAAGGTGATGC 0.338000 58 21 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33632946 33632946 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:33632946C>T uc021ywr.1 + 12 1589 c.1365C>T c.(1363-1365)gcC>gcT p.A455A NM_002224 NP_002215 Q14573 ITPR3_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA. 455 G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TGGCCAGTGCCGTGGAGAAAC 0.597000 202 5 0 0 1 0 0 WDR47 22911 broad.mit.edu 37 1 109544854 109544854 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:109544854G>A uc001dwl.3 - 6 1825 c.1449C>T c.(1447-1449)ttC>ttT p.F483F WDR47_uc001dwi.3_Silent_p.F476F|WDR47_uc001dwj.3_Silent_p.F475F|WDR47_uc001dwk.2_Silent_p.F447F|WDR47_uc010ovf.2_Silent_p.F402F NM_001142550 NP_001136022 O94967 WDR47_HUMAN Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA. 475 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) ACCTATTAAGGAACTGTTCAG 0.378000 160 50 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4260977 4260977 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:4260977G>A uc003smx.3 + 39 5947 c.5808G>A c.(5806-5808)gtG>gtA p.V1936V SDK1_uc010kso.3_Silent_p.V1192V|SDK1_uc003smy.3_Silent_p.V423V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1936 Fibronectin type-III 13. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGGGCTATGTGATCGAGGCCC 0.637000 11 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046079 9046079 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:9046079G>A uc002mkp.3 - 4 35756 c.35552C>T c.(35551-35553)tCc>tTc p.S11851F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11853 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGATGGGTGGAAAGTGGGGC 0.478000 60 32 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69369170 69369170 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:69369170G>A uc002ewy.2 - 2 738 c.667C>T c.(667-669)Cct>Tct p.P223S NM_032382 NP_115758 Q96MW5 COG8_HUMAN Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA. 223 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 AGGCAGGCAGGAAGCTGGATG 0.572000 18 10 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55518375 55518375 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:55518375G>A uc001cyf.2 + 4 1072 c.710G>A c.(709-711)cGg>cAg p.R237Q PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Non-coding_Transcript NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 237 Peptidase S8. R -> W. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GTCAGCGGCCGGGATGCCGGC 0.647000 38 17 0 0 1 0 0 TMEM98 26022 broad.mit.edu 37 17 31267970 31267970 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:31267970C>T uc002hhq.3 + 7 1098 c.640C>T c.(640-642)Cca>Tca p.P214S TMEM98_uc002hhr.3_Missense_Mutation_p.P214S NM_015544 NP_056359 Q9Y2Y6 TMM98_HUMAN Homo sapiens transmembrane protein 98 (TMEM98), transcript variant 1, mRNA. 214 endoplasmic reticulum|integral to membrane kidney(2)|large_intestine(1) 3 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) TAAAGGCCTCCCAGGCCCTGA 0.597000 14 16 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161139760 161139760 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr6:161139760G>A uc003qtm.4 + 8 1098 c.986G>A c.(985-987)gGa>gAa p.G329E NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 329 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AATCCTGACGGAAAAAGGGCC 0.463000 10 25 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861741 14861741 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:14861741C>T uc003bzc.3 + 0 1273 c.1163C>T c.(1162-1164)cCc>cTc p.P388L FGD5_uc011avk.2_Missense_Mutation_p.P388L NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 388 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GAGGAGAACCCCATGGTGGGG 0.612000 50 17 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138373853 138373853 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:138373853G>A uc002tva.1 + 16 3442 c.3442G>A c.(3442-3444)Gaa>Aaa p.E1148K THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTCCTGAATGAAAATTGCTT 0.453000 80 38 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10366251 10366251 + Silent SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr17:10366251G>A uc002gmn.3 - 10 1050 c.939C>T c.(937-939)ttC>ttT p.F313F AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 313 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGACAAATGCGAAGTCATATG 0.408000 56 41 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173545850 173545850 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:173545850C>T uc001giz.2 - 7 1275 c.852G>A c.(850-852)ctG>ctA p.L284L SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 284 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AATCTAAATTCAGTCCTACAG 0.368000 31 31 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143586695 143586695 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr5:143586695G>A uc003lnm.1 + 2 1047 c.418G>A c.(418-420)Gaa>Aaa p.E140K KCTD16_uc003lnn.1_Missense_Mutation_p.E140K NM_020768 NP_065819 Q68DU8 KCD16_HUMAN Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA. 140 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CAGTGACTTTGAAGATGCCTC 0.527000 76 27 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166850909 166850909 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:166850909C>T uc002udo.4 - 26 4826 c.4599G>A c.(4597-4599)atG>atA p.M1533I SCN1A_uc010fpk.3_Missense_Mutation_p.M1505I|SCN1A_uc021vsb.1_Missense_Mutation_p.M1522I NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1533 voltage-gated sodium channel complex voltage-gated sodium channel activity p.D1533Y(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGTCAAAGACCATTCCTTGAA 0.353000 12 5 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27436557 27436557 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:27436557G>A uc011aww.2 - 18 2974 c.2753C>T c.(2752-2754)cCt>cTt p.P918L SLC4A7_uc011awx.2_Missense_Mutation_p.P905L|SLC4A7_uc021wun.1_Missense_Mutation_p.P794L|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.P901L|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.P790L|SLC4A7_uc011axb.2_Missense_Mutation_p.P905L|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.P790L|SLC4A7_uc010hfl.3_Missense_Mutation_p.P459L|SLC4A7_uc003cdv.3_Missense_Mutation_p.P909L|SLC4A7_uc003cdw.3_Missense_Mutation_p.P785L NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA. 909 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GGTCCACCAAGGATTATCTCC 0.368000 53 17 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5153808 5153808 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:5153808C>T uc001qni.3 + 0 724 c.495C>T c.(493-495)ttC>ttT p.F165F NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 165 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 AGTACTTCTTCGACCGCAACC 0.667000 50 33 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47350211 47350211 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:47350211C>T uc001ner.1 + 34 4986 c.4795C>T c.(4795-4797)Cct>Tct p.P1599S MADD_uc001neq.2_Missense_Mutation_p.P1540S|MADD_uc001nev.1_Silent_p.F1473F|MADD_uc001nes.1_Missense_Mutation_p.P1517S|MADD_uc001net.1_Missense_Mutation_p.P1560S|MADD_uc009yln.1_Missense_Mutation_p.P1493S|MADD_uc001neu.1_Missense_Mutation_p.P1497S|MADD_uc001nez.2_Missense_Mutation_p.P1496S|MADD_uc001new.2_Missense_Mutation_p.P1539S|MADD_uc001nex.2_Silent_p.F1575F NM_003682 NP_003673 Q8WXG6 MADD_HUMAN Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA. 1599 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GGTTTTAGTTCCTGAAATTAA 0.582000 21 30 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189068456 189068456 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr4:189068456C>T uc003izm.1 + 5 1452 c.1337C>T c.(1336-1338)tCc>tTc p.S446F TRIML1_uc003izn.1_Missense_Mutation_p.S170F NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 446 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding p.F445I(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCTATCTTTTCCCCCTGCCTC 0.562000 96 32 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47556881 47556881 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr21:47556881C>T uc002zig.3 - 13 1670 c.1626G>A c.(1624-1626)ccG>ccA p.P542P FTCD_uc002zie.3_Non-coding_Transcript|FTCD_uc002zif.3_Intron|FTCD_uc002zih.3_3'UTR|FTCD_uc010gqf.3_3'UTR O95954 FTCD_HUMAN Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA. 49 folic acid-containing compound metabolic process|histidine catabolic process Golgi apparatus|centriole|cytosol folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CCACAGAGCCCGGAGAGGCCT 0.677000 17 4 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57429947 57429947 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr20:57429947C>T uc002xzw.3 + 0 1912 c.1627C>T c.(1627-1629)Ccg>Tcg p.P543S GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TCCGCCTACTCCGCGGCCTAC 0.711000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 2 3 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976538 34976538 + Missense_Mutation SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr9:34976538C>T uc003zvq.3 + 4 828 c.650C>T c.(649-651)tCc>tTc p.S217F KIAA1045_uc003zvr.3_Missense_Mutation_p.S217F NM_015297 NP_056112 Q9UPV7 K1045_HUMAN Homo sapiens KIAA1045 (KIAA1045), mRNA. 217 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) ACAGATTGCTCCCTGACACTG 0.662000 26 15 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284863 52284863 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr12:52284863G>A uc001rzd.3 + 4 1311 c.1133G>A c.(1132-1134)gGc>gAc p.G378D ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Intron|ANKRD33_uc001rze.3_Missense_Mutation_p.G274D|ANKRD33_uc001rzg.4_Intron|ANKRD33_uc001rzi.4_Intron NM_182608 NP_872414 Q7Z3H0 ANR33_HUMAN Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA. 13 p.G378S(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) AGCCCTCAGGGCATATTGAGC 0.642000 30 28 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19758433 19758433 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:19758433G>A uc002nnh.4 - 19 2796 c.2768C>T c.(2767-2769)tCc>tTc p.S923F ATP13A1_uc002nne.3_Missense_Mutation_p.S63F|ATP13A1_uc002nnf.4_Missense_Mutation_p.S291F|ATP13A1_uc002nng.3_Missense_Mutation_p.S805F NM_020410 NP_065143 Q9HD20 AT131_HUMAN Homo sapiens ATPase type 13A1 (ATP13A1), mRNA. 923 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CTGCTCCTCGGAGGGAGGGAG 0.692000 24 10 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2815229 2815229 + Missense_Mutation SNP G A A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr8:2815229G>A uc022aqr.1 - 62 10193 c.9803C>T c.(9802-9804)aCc>aTc p.T3268I CSMD1_uc011kwj.2_Missense_Mutation_p.T2598I|CSMD1_uc010lrg.3_Missense_Mutation_p.T1160I NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3269 Sushi 27. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TATACATTCGGTCTGTATCCC 0.433000 7 8 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24358083 24358083 + Silent SNP C T T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:24358083C>T uc002dmf.3 + 1 1442 c.240C>T c.(238-240)atC>atT p.I80I NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 80 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GCAAGAAAATCGATCACTTCC 0.582000 37 29 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228506831 228506831 + Frame_Shift_Del DEL C - - TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr1:228506831delC uc009xez.1 + 53 14422 c.14378delC c.(14377-14379)gccfs p.A4793fs OBSCN_uc001hsn.3_Frame_Shift_Del_p.A4793fs NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 4793 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GATGAGCTGGCCCGCACTGGA 0.647 --- 29 --- --- 9 --- NRBP1 29959 broad.mit.edu 37 2 27663753 27663754 + Frame_Shift_Ins INS - C C TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr2:27663753_27663754insC uc002rko.3 + 14 2107_2108 c.1275_1276insC c.(1273-1278)gtgcccfs p.V425fs NRBP1_uc002rkp.3_Frame_Shift_Ins_p.V425fs|NRBP1_uc002rkr.3_Frame_Shift_Ins_p.V216fs|KRTCAP3_uc002rks.3_5'Flank|KRTCAP3_uc010ylr.2_5'Flank|KRTCAP3_uc021vfd.1_5'Flank|KRTCAP3_uc002rkt.3_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA. 425 ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) CACCTGTCGTGCCCCCCTCTGT 0.599 --- 63 --- --- 20 --- UBA3 9039 broad.mit.edu 37 3 69112644 69112649 + In_Frame_Del DEL AATATG - - TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr3:69112644_69112649delAATATG uc003dno.3 - 7 498_503 c.478_483delCATATT c.(478-483)catattdel p.HI160del UBA3_uc003dnq.3_In_Frame_Del_p.HI146del|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_5'UTR NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA. 160 Interaction with UBE2M N-terminus. protein neddylation|proteolysis nucleus ATP binding|acid-amino acid ligase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) CACATACAATAATATGAAATTCTACA 0.325 --- 18 --- --- 7 --- TNRC18 84629 broad.mit.edu 37 7 5352666 5352668 + In_Frame_Del DEL GAG - - TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr7:5352666_5352668delGAG uc003soi.4 - 26 8203_8205 c.7854_7856delCTC c.(7852-7857)tcctca>tca p.2618_2619SS>S NM_001080495 NP_001073964 O15417 TNC18_HUMAN Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA. 2618 Ser-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) ggaggaggatgaggaggaggagg 0.660 --- 4 --- --- 2 --- SERPING1 710 broad.mit.edu 37 11 57365774 57365776 + In_Frame_Del DEL CTG - - TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:57365774_57365776delCTG uc001nkp.1 + 1 222_224 c.31_33delCTG c.(31-33)ctgdel p.L15del SERPING1_uc010rju.1_Intron|SERPING1_uc010rjv.1_In_Frame_Del_p.L15del|SERPING1_uc001nkr.1_In_Frame_Del_p.L15del|SERPING1_uc001nks.1_5'UTR NM_000062 NP_001027466 P05155 IC1_HUMAN Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA. 15 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 GCTGACCCTCCTGCTGCTGCTGC 0.714 --- 3 --- --- 3 --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + Splice_Site INS - T T rs33924686 by1000genomes TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr11:102738795_102738796insT uc001phk.3 - 5 727 c.630_splice c.e5+1 p.T210_splice NM_002426 NP_002417 P39900 MMP12_HUMAN Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA. 210 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 --- 5 --- --- 3 --- TCF25 22980 broad.mit.edu 37 16 89964979 89964979 + Frame_Shift_Del DEL C - - TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr16:89964979delC uc002fpb.2 + 9 1119 c.1037delC c.(1036-1038)gccfs p.A346fs TCF25_uc002fpc.2_Frame_Shift_Del_p.A111fs NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA. 346 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TTCTACCTGGCCCTCTACAAG 0.572 --- 118 --- --- 33 --- MUC16 94025 broad.mit.edu 37 19 9058690 9058690 + Frame_Shift_Del DEL T - - TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:9058690delT uc002mkp.3 - 2 28960 c.28756delA c.(28756-28758)aggfs p.R9586fs NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9588 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGGTCTCCCTCAGTCCAGGG 0.507 --- 19 --- --- 9 --- STRN4 29888 broad.mit.edu 37 19 47226405 47226407 + In_Frame_Del DEL GCT - - TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ac50a87-5fce-418c-afc2-c59e868a71f8 0892f851-4695-4c74-a323-e67e89435d2e g.chr19:47226405_47226407delGCT uc002pfm.3 - 12 1783_1785 c.1750_1752delAGC c.(1750-1752)agcdel p.S584del STRN4_uc002pfl.3_In_Frame_Del_p.S577del|STRN4_uc010xyf.2_Non-coding_Transcript NM_001039877 NP_001034966 Q9NRL3 STRN4_HUMAN Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA. 577 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) GGCAGGCCGGGCTGCTGCTGCTG 0.700 --- 4 --- --- 2 ---