Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PLA2G4A 5321 broad.mit.edu 37 1 186934597 186934597 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:186934597C>T ENST00000367466.3 + 15 1788 c.1636C>T c.(1636-1638)Cat>Tat p.H546Y PLA2G4A_ENST00000442353.2_Missense_Mutation_p.H486Y NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 546 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TAAAAAGATTCATGTAGTGGA 0.368000 7 73 0 0 0.001984 0 0 TSHB 7252 broad.mit.edu 37 1 115576081 115576081 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:115576081G>A ENST00000256592.1 + 2 166 c.98G>A c.(97-99)aGg>aAg p.R33K TSHB_ENST00000369517.1_Missense_Mutation_p.R33K NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 33 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) CACATCGAAAGGAGAGAGTGT 0.423000 28 72 0 0 0.006320 0 0 COL7A1 1294 broad.mit.edu 37 3 48622170 48622170 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:48622170C>T ENST00000328333.8 - 34 4151 c.4044G>A c.(4042-4044)gaG>gaA p.E1348E COL7A1_ENST00000454817.1_Silent_p.E1348E NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1348 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACCTACCGGCTCCCCCTTTG 0.652000 7 38 0 0 0.004482 0 0 MYLK 4638 broad.mit.edu 37 3 123457801 123457801 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:123457801C>T ENST00000360772.3 - 8 909 c.531G>A c.(529-531)atG>atA p.M177I MYLK_ENST00000475616.1_Missense_Mutation_p.M177I|MYLK_ENST00000360304.3_Missense_Mutation_p.M177I|MYLK_ENST00000359169.1_Missense_Mutation_p.M177I|MYLK_ENST00000346322.5_Missense_Mutation_p.M177I Q15746 MYLK_HUMAN myosin light chain kinase 177 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP 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) AGAATCGTCCCATCTGTCCTT 0.577000 6 22 0 0 0.001984 0 0 COL4A4 1286 broad.mit.edu 37 2 227912256 227912256 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:227912256C>T ENST00000396625.3 - 35 3431 c.3224G>A c.(3223-3225)gGt>gAt p.G1075D COL4A4_ENST00000329662.7_Missense_Mutation_p.G1075D NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1075 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGCAGGGTCACCTTTGTTTCC 0.403000 7 34 0 0 0.001984 0 0 HS2ST1 9653 broad.mit.edu 37 1 87380800 87380800 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:87380800G>A ENST00000370550.5 + 1 444 c.81G>A c.(79-81)ttG>ttA p.L27L HS2ST1_ENST00000370551.4_Silent_p.L27L NM_012262.3 NP_036394.1 Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 27 Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5) 9 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) TGCTCTTCTTGGAAAACCAGA 0.622000 15 64 0 0 0.003163 0 0 ZFR2 23217 broad.mit.edu 37 19 3813923 3813923 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:3813923C>T ENST00000262961.4 - 14 2147 c.2137G>A c.(2137-2139)Gac>Aac p.D713N NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 713 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GCTTCAGGGTCGGAGGAGACC 0.547000 5 46 0 0 0.000602 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748209 19748209 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:19748209C>T ENST00000400113.3 - 5 1251 c.1147G>A c.(1147-1149)Gcc>Acc p.A383T NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 383 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.A383T(1) 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) TCCGCGATGGCCGTGGTGTTG 0.637000 13 56 0 0 0.001368 0 0 PRPF31 26121 broad.mit.edu 37 19 54627239 54627239 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:54627239C>T ENST00000321030.4 + 7 988 c.639C>T c.(637-639)tcC>tcT p.S213S PRPF31_ENST00000419967.1_Silent_p.S213S|PRPF31_ENST00000391755.1_Silent_p.S213S|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR NM_015629.3 NP_056444.3 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 213 Nop. assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3) 12 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCCGGATGTCCTTCATCGCAC 0.642000 11 42 0 0 0.008291 0 0 HEPH 9843 broad.mit.edu 37 X 65486447 65486447 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:65486447G>A ENST00000519389.1 + 21 3751 c.3572G>A c.(3571-3573)aGa>aAa p.R1191K HEPH_ENST00000343002.2_Missense_Mutation_p.R1137K|HEPH_ENST00000336279.5_Missense_Mutation_p.R870K|HEPH_ENST00000441993.2_Missense_Mutation_p.R1139K|HEPH_ENST00000419594.1_Missense_Mutation_p.R948K|HEPH_ENST00000374727.3_Missense_Mutation_p.R1140K Q9BQS7 HEPH_HUMAN hephaestin 1137 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CATCGACAGAGAAAGCTACGA 0.488000 5 19 0 0 0.001168 0 0 PRRX1 5396 broad.mit.edu 37 1 170699435 170699435 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:170699435G>A ENST00000367760.3 + 4 1702 c.617G>A c.(616-618)aGa>aAa p.R206K PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000239461.6_Intron NM_006902.3 NP_008833.1 P54821 PRRX1_HUMAN paired related homeobox 1 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCCCTCCCAAGATGTTGTTTA 0.478000 99 182 0 0 0.003610 0 0 FAM47C 442444 broad.mit.edu 37 X 37029243 37029243 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:37029243G>A ENST00000358047.3 + 1 2812 c.2760G>A c.(2758-2760)ggG>ggA p.G920G NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 920 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ACTTGGACGGGAAAATCCAGA 0.453000 13 35 0 0 0.002450 0 0 PDPR 55066 broad.mit.edu 37 16 70172811 70172811 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:70172811C>T ENST00000288050.4 + 11 2157 c.1200C>T c.(1198-1200)gcC>gcT p.A400A PDPR_ENST00000568530.1_Silent_p.A400A|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Silent_p.A300A NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 400 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GGTACCTTGCCGAATGGATGG 0.468000 7 84 0 0 0.003080 0 0 AGAP7 653268 broad.mit.edu 37 10 51464844 51464844 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:51464844C>T ENST00000374095.5 - 7 1737 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 538 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 TCCTTCTCTTCCCTCGTGGAC 0.567000 18 136 0 0 0.001882 0 0 ADAM10 102 broad.mit.edu 37 15 58974407 58974407 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:58974407C>T ENST00000260408.3 - 3 756 c.313G>A c.(313-315)Gga>Aga p.G105R ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 105 cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TAAATATGTCCAGTGTAAATA 0.318000 15 52 0 0 0.004007 0 0 COL1A1 1277 broad.mit.edu 37 17 48274392 48274392 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:48274392G>A ENST00000225964.5 - 11 901 c.783C>T c.(781-783)ctC>ctT p.L261L NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 261 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) TCATTCCAGGGAGGCCAGCTG 0.527000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 11 63 0 0 0.001855 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886515 228886515 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:228886515C>T ENST00000392056.3 - 6 655 c.609G>A c.(607-609)acG>acA p.T203T SPHKAP_ENST00000344657.5_Silent_p.T203T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 203 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGGAACAGTTCGTGTCATCCT 0.463000 22 67 0 0 0.001882 0 0 CACNA1F 778 broad.mit.edu 37 X 49072880 49072880 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:49072880C>T ENST00000376265.2 - 27 3292 c.3231G>A c.(3229-3231)atG>atA p.M1077I CACNA1F_ENST00000323022.5_Missense_Mutation_p.M1066I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.M1012I NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1077 Dihydropyridine binding (By similarity). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TGAACAGGGCCATCATGGCTG 0.577000 5 14 0 0 0.001984 0 0 CFTR 1080 broad.mit.edu 37 7 117246731 117246731 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:117246731G>A ENST00000003084.6 + 18 3044 c.2912G>A c.(2911-2913)gGg>gAg p.G971E CFTR_ENST00000454343.1_Missense_Mutation_p.G910E|AC000111.6_ENST00000456270.1_RNA NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 971 ABC transmembrane type-1 2. 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|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain 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) ATTATAGGTGGGATTCTTAAT 0.299000 Cystic Fibrosis 16 113 0 0 0.003163 0 0 GABRB1 2560 broad.mit.edu 37 4 47408824 47408824 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:47408824C>T ENST00000295454.3 + 8 1253 c.961C>T c.(961-963)Ctg>Ttg p.L321L GABRB1_ENST00000538619.1_Silent_p.L251L NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 321 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTTCCTGGCTCTGCTGGAGTA 0.448000 5 56 0 0 0.000602 0 0 SULF1 23213 broad.mit.edu 37 8 70513990 70513990 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:70513990G>A ENST00000260128.4 + 10 1704 c.987G>A c.(985-987)ggG>ggA p.G329G SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.G329G|SULF1_ENST00000419716.3_Silent_p.G329G|SULF1_ENST00000458141.2_Silent_p.G329G NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 329 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TGGTCAAGGGGAAATCCATGC 0.438000 14 109 0 0 0.002450 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70016296 70016296 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:70016296G>A ENST00000325845.7 - 23 2475 c.406C>T c.(406-408)Cat>Tat p.H136Y PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR|RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.H168Y breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 TTGTAATGATGGTTGACTTTC 0.378000 13 43 0 0 0.001368 0 0 MET 4233 broad.mit.edu 37 7 116371770 116371770 + Nonsense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:116371770C>T ENST00000397752.3 + 3 1449 c.1249C>T c.(1249-1251)Cga>Tga p.R417* MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Nonsense_Mutation_p.R417*|MET_ENST00000436117.2_Nonsense_Mutation_p.R417* NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 417 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TGATGAATATCGAACAGAGTT 0.418000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 5 57 0 0 0.000602 0 0 ABCA4 24 broad.mit.edu 37 1 94466645 94466645 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:94466645C>T ENST00000370225.3 - 46 6385 c.6299G>A c.(6298-6300)gGg>gAg p.G2100E ABCA4_ENST00000535881.1_Missense_Mutation_p.G219E|ABCA4_ENST00000536513.1_Missense_Mutation_p.G370E NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2100 ABC transporter 2. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGGGTCCATCCCTGTGGTGGG 0.632000 7 61 0 0 0.003080 0 0 TSKS 60385 broad.mit.edu 37 19 50251366 50251366 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:50251366C>T ENST00000246801.3 - 4 637 c.555G>A c.(553-555)ttG>ttA p.L185L NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 185 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) AGTACCCCTCCAACTCTTCTG 0.567000 13 104 0 0 0.002450 0 0 OR52M1 119772 broad.mit.edu 37 11 4566909 4566909 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:4566909G>A ENST00000360213.1 + 1 489 c.489G>A c.(487-489)ctG>ctA p.L163L NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCTGCCTCTGATGATCCGCC 0.537000 14 88 0 0 0.001855 0 0 RGS7 6000 broad.mit.edu 37 1 241262021 241262021 + Silent SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:241262021T>C ENST00000366565.1 - 3 501 c.120A>G c.(118-120)ggA>ggG p.G40G RGS7_ENST00000331110.7_Silent_p.G14G|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000401882.1_Silent_p.G40G|RGS7_ENST00000366563.1_Silent_p.G40G|RGS7_ENST00000348120.2_Silent_p.G40G|RGS7_ENST00000366564.1_Silent_p.G40G|RGS7_ENST00000366562.4_Silent_p.G40G|RGS7_ENST00000407727.1_Silent_p.G40G NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 40 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GAATAGGAATTCCATTTTTTT 0.348000 18 28 0 0 0.001882 0 0 TRAV26-1 28657 broad.mit.edu 37 14 22592107 22592107 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:22592107C>T ENST00000390455.3 + 0 401 CACAGTATATCATTCATGGTC 0.453000 10 39 0 0 0.006214 0 0 MARCH10 162333 broad.mit.edu 37 17 60813770 60813770 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:60813770C>T ENST00000544856.2 - 7 1834 c.1456G>A c.(1456-1458)Gta>Ata p.V486I MARCH10_ENST00000583600.1_Missense_Mutation_p.V525I|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.V487I|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.V487I Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 487 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GACAAGTCTACTGGAATATCA 0.428000 9 71 0 0 0.004482 0 0 COL21A1 81578 broad.mit.edu 37 6 55925714 55925714 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:55925714C>T ENST00000244728.5 - 26 2724 c.2327G>A c.(2326-2328)gGa>gAa p.G776E COL21A1_ENST00000370819.1_Missense_Mutation_p.G773E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G176E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G776E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 776 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) ACCTGGGGGTCCCTGAGGACC 0.493000 5 24 0 0 0.001168 0 0 ADAM10 102 broad.mit.edu 37 15 58974406 58974406 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:58974406C>T ENST00000260408.3 - 3 757 c.314G>A c.(313-315)gGa>gAa p.G105E ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 105 cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) ATAAATATGTCCAGTGTAAAT 0.313000 14 51 0 0 0.003163 0 0 GLI4 2738 broad.mit.edu 37 8 144358683 144358683 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:144358683C>T ENST00000340042.1 + 4 925 c.840C>T c.(838-840)tcC>tcT p.S280S GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Silent_p.S280S NM_138465.3 NP_612474.1 P10075 GLI4_HUMAN GLI family zinc finger 4 280 nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCCAGAGCTCCAACCTGGTGC 0.657000 5 18 0 0 0.001168 0 0 AHSP 51327 broad.mit.edu 37 16 31539946 31539946 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:31539946C>T ENST00000302312.4 + 3 346 c.243C>T c.(241-243)ttC>ttT p.F81F AHSP_ENST00000569954.1_3'UTR NM_016633.2 NP_057717.1 Q9NZD4 AHSP_HUMAN alpha hemoglobin stabilizing protein 81 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding lung(2) 2 CCAACCCTTTCCTGGCCAAGT 0.587000 8 46 0 0 0.003080 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85164501 85164501 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:85164501G>A ENST00000448803.2 + 3 1367 c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E359K|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E358K|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E209K|ZSCAN2_ENST00000541040.1_Intron NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 359 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CCACACTGGAGAAAAGCCCTA 0.502000 19 153 0 0 0.003330 0 0 INS-IGF2 723961 broad.mit.edu 37 11 2170458 2170458 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:2170458G>A ENST00000397270.1 - 3 363 c.305C>T c.(304-306)tCg>tTg p.S102L INS-IGF2_ENST00000481781.1_5'UTR|IGF2_ENST00000300632.5_5'UTR NM_001042376.2 NP_001035835.1 Q1WM24 Q1WM24_HUMAN 102 glucose metabolic process extracellular region hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 5 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) CTGCCTGGACGATGATCCGCC 0.627000 12 124 0 0 0.001368 0 0 ZFPM2 23414 broad.mit.edu 37 8 106573624 106573624 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:106573624G>A ENST00000407775.2 + 4 585 c.335G>A c.(334-336)cGa>cAa p.R112Q ZFPM2_ENST00000517361.1_5'UTR|ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 112 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.R112Q(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GATGGGGAACGAAAAATTCAG 0.438000 4 41 0 0 0.000602 0 0 ARMCX6 54470 broad.mit.edu 37 X 100871242 100871242 + Missense_Mutation SNP A A C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:100871242A>C ENST00000539247.1 - 4 801 c.369T>G c.(367-369)tgT>tgG p.C123W ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000361910.4_Missense_Mutation_p.C123W|ARMCX6_ENST00000538627.1_Missense_Mutation_p.C123W NM_001184768.1 NP_001171697.1 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 123 integral to membrane endometrium(3)|kidney(1)|liver(2)|lung(3) 9 GGTCCAGAACACAACTGCCAT 0.463000 24 48 0 0 0.003954 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110487454 110487454 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:110487454C>T ENST00000378402.5 + 51 8817 c.8713C>T c.(8713-8715)Cac>Tac p.H2905Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2905 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGGTGTGGATCACATAACCAA 0.333000 HNSCC(38;0.096) 5 27 0 0 0.000602 0 0 MST1L 11223 broad.mit.edu 37 1 17084730 17084730 + RNA SNP G G C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:17084730G>C ENST00000455405.2 - 0 286 p.R494fs*37(1) AAGCACTGCCGGGCAGTCAGT 0.582000 3 10 0 0 0.000248 0 0 ZNF48 197407 broad.mit.edu 37 16 30409290 30409290 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:30409290G>A ENST00000320159.2 + 2 1095 c.719G>A c.(718-720)cGg>cAg p.R240Q NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 AAGCACCAGCGGACACACCGG 0.657000 13 41 0 0 0.001368 0 0 LARP4 113251 broad.mit.edu 37 12 50821651 50821651 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:50821651C>T ENST00000398473.2 + 2 237 c.125C>T c.(124-126)tCt>tTt p.S42F LARP4_ENST00000293618.8_Missense_Mutation_p.S42F|LARP4_ENST00000429001.3_Missense_Mutation_p.S42F|LARP4_ENST00000347328.5_Missense_Mutation_p.S42F|LARP4_ENST00000522085.1_Missense_Mutation_p.S42F|LARP4_ENST00000518561.1_5'UTR|LARP4_ENST00000518444.1_Missense_Mutation_p.S41F NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 42 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 ACTGAAAGCTCTTGGCATGAA 0.403000 15 41 0 0 0.007413 0 0 CD74 972 broad.mit.edu 37 5 149786757 149786757 + Nonsense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:149786757G>A ENST00000353334.6 - 2 435 c.256C>T c.(256-258)Cag>Tag p.Q86* CD74_ENST00000524315.1_Nonsense_Mutation_p.Q86*|CD74_ENST00000377795.3_Nonsense_Mutation_p.Q86*|CD74_ENST00000009530.7_Nonsense_Mutation_p.Q86* NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 86 antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCAGGTTCTGGGAGGTGACT 0.607000 T ROS1 NSCLC 6 37 0 0 0.001168 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54912728 54912728 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:54912728G>A ENST00000293373.6 + 15 1530 c.1451G>A c.(1450-1452)gGa>gAa p.G484E NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G434E NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 484 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GAATTCTCAGGATTGAGGCTG 0.388000 7 37 0 0 0.004482 0 0 SRCAP 10847 broad.mit.edu 37 16 30734010 30734010 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:30734010C>T ENST00000262518.4 + 23 4218 c.3833C>T c.(3832-3834)tCg>tTg p.S1278L SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1278 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) CTGCCTTCTTCGACCCCCAGC 0.667000 24 185 0 0 0.003330 0 0 CYP4F11 57834 broad.mit.edu 37 19 16034682 16034682 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:16034682G>A ENST00000326742.7 - 6 859 c.858C>T c.(856-858)ttC>ttT p.F286F CYP4F11_ENST00000402119.3_Silent_p.F286F|CYP4F11_ENST00000248041.7_Silent_p.F286F Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 286 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTTCTTGAGGAAATCATCAA 0.532000 9 88 0 0 0.004482 0 0 ACIN1 22985 broad.mit.edu 37 14 23549485 23549485 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:23549485C>T ENST00000262710.1 - 6 1560 c.1233G>A c.(1231-1233)gaG>gaA p.E411E ACIN1_ENST00000555053.1_Silent_p.E411E|ACIN1_ENST00000457657.1_Silent_p.E371E|ACIN1_ENST00000605057.1_Silent_p.E353E NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 411 Glu-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) GAGTCTCCTCCTCGCTGGCAG 0.512000 12 60 0 0 0.001855 0 0 ARL11 115761 broad.mit.edu 37 13 50204565 50204565 + Splice_Site SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:50204565G>A ENST00000282026.1 + 2 317 c.e2-1 ARL11_ENST00000490932.1_Intron NM_138450.5 NP_612459.1 Q969Q4 ARL11_HUMAN ADP-ribosylation factor-like 11 small GTPase mediated signal transduction intracellular GTP binding|protein binding kidney(1)|large_intestine(4)|ovary(1) 6 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) TTCTCCCCTAGGATTCAGCAG 0.577000 15 74 0 0 0.003163 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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) 23 117 0 0 0.001882 0 0 ANO5 203859 broad.mit.edu 37 11 22248960 22248960 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:22248960C>T ENST00000324559.8 + 7 793 c.476C>T c.(475-477)cCc>cTc p.P159L NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 159 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGTGATATTCCCCGCCCTAAG 0.438000 18 93 0 0 0.004990 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657096 40657096 + Nonsense_Mutation SNP G G A rs78410508 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:40657096G>A ENST00000406785.1 - 2 514 c.325C>T c.(325-327)Caa>Taa p.Q109* SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.Q109*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.Q109*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.Q109*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.Q109*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.Q109*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.Q109*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.Q109*|SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.Q109*|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.Q109* P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 109 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) TCTTTTTCTTGAGATGTGATG 0.418000 24 106 0 0 0.003330 0 0 TSKS 60385 broad.mit.edu 37 19 50245169 50245169 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:50245169G>A ENST00000246801.3 - 9 1552 c.1470C>T c.(1468-1470)agC>agT p.S490S TSKS_ENST00000358830.3_Silent_p.S290S NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 490 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCCTCTGACAGCTGGGACAGG 0.587000 16 75 0 0 0.001523 0 0 PCLO 27445 broad.mit.edu 37 7 82545020 82545020 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:82545020G>A ENST00000423517.2 - 7 12619 c.12282C>T c.(12280-12282)ttC>ttT p.F4094F PCLO_ENST00000333891.8_Silent_p.F4094F|PCLO_ENST00000437081.1_Silent_p.F814F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4025 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AAGGTGCTAGGAAATCTGTCA 0.453000 5 19 0 0 0.000602 0 0 FREM2 341640 broad.mit.edu 37 13 39425951 39425951 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:39425951C>T ENST00000280481.7 + 11 7087 c.6871C>T c.(6871-6873)Cac>Tac p.H2291Y NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2291 Calx-beta 5. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGTGAGAGTCCACACCAAGGA 0.512000 6 46 0 0 0.001168 0 0 NAPSA 9476 broad.mit.edu 37 19 50862308 50862308 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:50862308C>T ENST00000253719.2 - 8 1203 c.995G>A c.(994-996)gGg>gAg p.G332E NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 332 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) AAACCAGACCCCCCCAAGAAG 0.532000 7 63 0 0 0.004482 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47246256 47246256 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:47246256C>T ENST00000300404.2 + 10 1548 c.1489C>T c.(1489-1491)Cac>Tac p.H497Y B4GALNT2_ENST00000504681.1_Missense_Mutation_p.H411Y|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.H437Y NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 497 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) ACGAGTGGCTCACTCAGGTGG 0.587000 5 21 0 0 0.001168 0 0 TMEM255B 348013 broad.mit.edu 37 13 114514837 114514837 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:114514837C>T ENST00000375353.3 + 9 969 c.942C>T c.(940-942)taC>taT p.Y314Y TMEM255B_ENST00000467169.1_3'UTR NM_182614.2 NP_872420.1 transmembrane protein 255B CACCCACCTACTTTCCCCCGG 0.567000 19 139 0 0 0.001523 0 0 AQP7 364 broad.mit.edu 37 9 33395188 33395188 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:33395188G>A ENST00000539936.1 - 3 270 c.32C>T c.(31-33)aCc>aTc p.T11I AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 11 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) GGAGCCACGGGTGGACCTAAG 0.542000 7 25 0 0 0.003080 0 0 SAMD3 154075 broad.mit.edu 37 6 130465686 130465686 + Silent SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:130465686T>C ENST00000368134.2 - 14 2150 c.1542A>G c.(1540-1542)ggA>ggG p.G514G SAMD3_ENST00000439090.2_Silent_p.G514G|SAMD3_ENST00000437477.2_Silent_p.G514G|SAMD3_ENST00000457563.2_Silent_p.G538G NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 514 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GGTGCTGAAATCCTACTTCGT 0.368000 5 35 0 0 0.001984 0 0 ACSL1 2180 broad.mit.edu 37 4 185694264 185694264 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:185694264C>T ENST00000515030.1 - 10 1211 c.886G>A c.(886-888)Gat>Aat p.D296N ACSL1_ENST00000504900.1_Missense_Mutation_p.D296N|ACSL1_ENST00000507295.1_Missense_Mutation_p.D262N|ACSL1_ENST00000281455.2_Missense_Mutation_p.D296N|ACSL1_ENST00000454703.2_Missense_Mutation_p.D125N|ACSL1_ENST00000504342.1_Missense_Mutation_p.D296N|ACSL1_ENST00000513317.1_Missense_Mutation_p.D296N|ACSL1_ENST00000437665.3_Missense_Mutation_p.D125N P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 296 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCTGAACAATCGCTCACTATG 0.428000 7 49 0 0 0.006214 0 0 CFI 3426 broad.mit.edu 37 4 110681755 110681755 + Silent SNP C C T rs144145014 by1000genomes TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:110681755C>T ENST00000394634.2 - 5 903 c.696G>A c.(694-696)ggG>ggA p.G232G CFI_ENST00000394635.3_Silent_p.G232G|CFI_ENST00000512148.1_Silent_p.G232G NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 232 LDL-receptor class A 1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) AAATGTATTTCCCATTCACAC 0.368000 8 46 0 0 0.008291 0 0 DNM3 26052 broad.mit.edu 37 1 172001586 172001586 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:172001586G>A ENST00000358155.4 + 5 810 c.634G>A c.(634-636)Gaa>Aaa p.E212K DNM3_ENST00000367733.2_Missense_Mutation_p.E212K|DNM3_ENST00000367731.1_Missense_Mutation_p.E212K|DNM3_ENST00000520906.1_Missense_Mutation_p.E212K|DNM3_ENST00000355305.5_Missense_Mutation_p.E212K NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 212 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCTTATGGATGAAGGAACGGA 0.378000 48 77 0 0 0.003610 0 0 FRAS1 80144 broad.mit.edu 37 4 79417974 79417974 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:79417974G>A ENST00000264895.6 + 60 9414 c.8974G>A c.(8974-8976)Gtc>Atc p.V2992I NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2987 Calx-beta 4. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GAACTGTACGGTCTATATCCA 0.433000 16 156 0 0 0.003163 0 0 NUAK1 9891 broad.mit.edu 37 12 106461577 106461577 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:106461577C>T ENST00000261402.2 - 7 2368 c.989G>A c.(988-990)cGg>cAg p.R330Q NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 330 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GTCAATGATCCGAGCCAGGAG 0.572000 5 43 0 0 0.000602 0 0 OR52E6 390078 broad.mit.edu 37 11 5863024 5863024 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:5863024G>A ENST00000329322.5 - 1 103 c.104C>T c.(103-105)tCt>tTt p.S35F TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.S39F NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGATACACAGAGAAAAAAGG 0.468000 13 68 0 0 0.001368 0 0 DDR2 4921 broad.mit.edu 37 1 162740136 162740136 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:162740136C>T ENST00000367922.2 + 13 1776 c.1338C>T c.(1336-1338)tcC>tcT p.S446S DDR2_ENST00000367921.3_Silent_p.S446S NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 446 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCAGCCTTTCCCTGCCAAGTG 0.498000 24 167 0 0 0.002780 0 0 ACSF2 80221 broad.mit.edu 37 17 48538185 48538185 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:48538185C>T ENST00000427954.2 + 3 394 c.351C>T c.(349-351)gtC>gtT p.V117V ACSF2_ENST00000300441.4_Silent_p.V92V|ACSF2_ENST00000502667.1_Silent_p.V92V|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000504392.1_Silent_p.V92V Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 92 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) AGGCCTTGGTCGTCCTCCATG 0.562000 5 13 0 0 0.000602 0 0 CEP164 22897 broad.mit.edu 37 11 117261550 117261550 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:117261550G>A ENST00000278935.3 + 16 2139 c.1992G>A c.(1990-1992)gaG>gaA p.E664E CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 664 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GGATGAGAGAGGAGGAAAGCC 0.542000 12 68 0 0 0.000978 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502695 140502695 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:140502695G>A ENST00000194152.1 + 1 1115 c.1115G>A c.(1114-1116)aGa>aAa p.R372K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 372 Cadherin 4. 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) ATTCGAGATAGAGATTCCGGA 0.403000 18 105 0 0 0.007413 0 0 PCDH15 65217 broad.mit.edu 37 10 55569273 55569273 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:55569273C>T ENST00000395445.1 - 36 4931 c.4537G>A c.(4537-4539)Gaa>Aaa p.E1513K PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Silent_p.L1529L|PCDH15_ENST00000395440.1_Missense_Mutation_p.E447K|PCDH15_ENST00000409834.1_Silent_p.L1140L|PCDH15_ENST00000395442.1_Missense_Mutation_p.E378K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.E709K NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 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) TCTCTAATTTCAACCTTTGGT 0.403000 HNSCC(58;0.16) 17 181 0 0 0.008871 0 0 C5AR1 728 broad.mit.edu 37 19 47823988 47823988 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:47823988C>T ENST00000355085.3 + 2 976 c.954C>T c.(952-954)ctC>ctT p.L318L NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 318 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TCCCCAGCCTCCTCCGGAACG 0.592000 11 60 0 0 0.001368 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) 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) TAAAGTCCTAGTTCACTCTCA 0.473000 9 131 0.00448238 0.00688929 0.004482 1 0 ZNF813 126017 broad.mit.edu 37 19 53994075 53994075 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:53994075C>T ENST00000396403.4 + 4 717 c.589C>T c.(589-591)Cgg>Tgg p.R197W ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) GAATAATTTCCGGAATTCTTC 0.373000 14 84 0 0 0.002450 0 0 C1orf173 127254 broad.mit.edu 37 1 75055375 75055375 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:75055375C>T ENST00000326665.5 - 12 2334 c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K C1orf173_ENST00000420661.2_Missense_Mutation_p.E509K NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 706 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTGCTTTCTTCCCAAAGCTTA 0.478000 31 202 0 0 0.001786 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035489 110035489 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:110035489C>T ENST00000453089.2 + 5 2467 c.1586C>T c.(1585-1587)cCt>cTt p.P529L ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P561L|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P560L Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 560 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) GGACAATATCCTTCAATGATG 0.428000 11 79 0 0 0.000978 0 0 GABRP 2568 broad.mit.edu 37 5 170236578 170236578 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:170236578C>T ENST00000518525.1 + 10 1303 c.839C>T c.(838-840)aCg>aTg p.T280M GABRP_ENST00000519598.1_Missense_Mutation_p.T280M|GABRP_ENST00000519385.1_Intron|GABRP_ENST00000265294.4_Missense_Mutation_p.T280M O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 280 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCAGGAGTGACGACCGTGTTA 0.532000 OREG0017032 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 109 0 0 0.008871 0 0 CEP164 22897 broad.mit.edu 37 11 117261549 117261549 + Missense_Mutation SNP A A C rs150261648 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:117261549A>C ENST00000278935.3 + 16 2138 c.1991A>C c.(1990-1992)gAg>gCg p.E664A CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 664 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CGGATGAGAGAGGAGGAAAGC 0.542000 12 70 0 0 0.000978 0 0 PBX1 5087 broad.mit.edu 37 1 164769111 164769111 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:164769111G>A ENST00000420696.2 + 4 874 c.686G>A c.(685-687)cGa>cAa p.R229Q PBX1_ENST00000540246.1_Missense_Mutation_p.R124Q|PBX1_ENST00000401534.1_Missense_Mutation_p.R229Q|PBX1_ENST00000367897.1_Missense_Mutation_p.R229Q|PBX1_ENST00000560641.1_Missense_Mutation_p.R124Q|PBX1_ENST00000559240.1_Missense_Mutation_p.R229Q|PBX1_ENST00000540236.1_Missense_Mutation_p.R229Q NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 229 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 CTGCGTTCCCGATTTCTGGAT 0.617000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 21 26 0 0 0.002780 0 0 NOL4 8715 broad.mit.edu 37 18 31538324 31538324 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr18:31538324C>T ENST00000261592.5 - 7 1412 c.1115G>A c.(1114-1116)gGa>gAa p.G372E NOL4_ENST00000269185.4_Missense_Mutation_p.G258E|NOL4_ENST00000589544.1_Missense_Mutation_p.G372E|NOL4_ENST00000538587.1_Missense_Mutation_p.G298E|NOL4_ENST00000535475.1_Missense_Mutation_p.G217E|NOL4_ENST00000535384.1_Missense_Mutation_p.G87E NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 372 nucleolus RNA binding p.G372A(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GTCCTCAGCTCCTCGGTCTAC 0.463000 34 135 0 0 0.005524 0 0 E2F8 79733 broad.mit.edu 37 11 19256297 19256297 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:19256297G>A ENST00000527884.1 - 5 992 c.760C>T c.(760-762)Cgg>Tgg p.R254W RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.R254W NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 254 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCACCTGCCCGAAATTCCACT 0.453000 5 54 0 0 0.001984 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1876649 1876649 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:1876649C>T ENST00000518288.1 + 25 2989 c.2826C>T c.(2824-2826)tcC>tcT p.S942S ARHGEF10_ENST00000349830.3_Silent_p.S918S|ARHGEF10_ENST00000262112.6_Silent_p.S914S|ARHGEF10_ENST00000520359.1_Silent_p.S880S|ARHGEF10_ENST00000398564.1_Silent_p.S943S O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 943 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TTCAAAATTCCACTCCCAAAG 0.517000 18 143 0 0 0.006122 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123471201 123471201 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:123471201G>A ENST00000529750.1 + 7 893 c.566G>A c.(565-567)cGg>cAg p.R189Q GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R189Q|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R196Q NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 189 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TTTGGGGCCCGGGATAGGACA 0.428000 6 30 0 0 0.001984 0 0 TIMELESS 8914 broad.mit.edu 37 12 56815145 56815145 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:56815145G>A ENST00000229201.4 - 23 3009 c.2855C>T c.(2854-2856)tCc>tTc p.S952F TIMELESS_ENST00000554616.1_Missense_Mutation_p.S450F|TIMELESS_ENST00000553532.1_Missense_Mutation_p.S953F NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 953 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 CAAGATGGAGGATGCCAACTT 0.557000 14 78 0 0 0.002450 0 0 ZNF512 84450 broad.mit.edu 37 2 27830820 27830820 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:27830820C>T ENST00000355467.4 + 10 1128 c.1045C>T c.(1045-1047)Cac>Tac p.H349Y ZNF512_ENST00000379717.1_Missense_Mutation_p.H348Y|ZNF512_ENST00000413371.2_Missense_Mutation_p.H272Y|ZNF512_ENST00000416005.2_Missense_Mutation_p.H320Y|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.H218Y Q96ME7 ZN512_HUMAN zinc finger protein 512 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) AGCTGTATACCACCTACAGGA 0.522000 5 22 0 0 0.000602 0 0 CTC1 80169 broad.mit.edu 37 17 8138478 8138478 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:8138478G>A ENST00000315684.8 - 8 1339 c.1332C>T c.(1330-1332)tcC>tcT p.S444S NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 444 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 AGGCTTGACGGGATGAGTGAG 0.637000 14 88 0 0 0.004007 0 0 PDE6C 5146 broad.mit.edu 37 10 95380490 95380490 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:95380490C>T ENST00000371447.3 + 2 720 c.582C>T c.(580-582)atC>atT p.I194I NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 194 GAF 1. 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) TTGCTGTGATCATGGCAGTTA 0.453000 29 102 0 0 0.008361 0 0 SUGP1 57794 broad.mit.edu 37 19 19408092 19408092 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:19408092G>A ENST00000247001.5 - 8 1296 c.949C>T c.(949-951)Cgg>Tgg p.R317W SUGP1_ENST00000585763.1_5'UTR NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 317 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 TTGGCTTTCCGGAACTCCTCC 0.602000 10 80 0 0 0.000978 0 0 SCYL3 57147 broad.mit.edu 37 1 169823707 169823707 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:169823707G>A ENST00000367772.4 - 13 2070 c.1873C>T c.(1873-1875)Ctt>Ttt p.L625F SCYL3_ENST00000367771.5_Missense_Mutation_p.L571F|SCYL3_ENST00000367770.1_Missense_Mutation_p.L625F NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 625 Interaction with EZR. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTTGTACAAGGCTAATCTTT 0.473000 19 115 0 0 0.008871 0 0 INHBA 3624 broad.mit.edu 37 7 41739902 41739902 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:41739902G>A ENST00000242208.4 - 2 317 c.71C>T c.(70-72)cCa>cTa p.P24L INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.P24L|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 24 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|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|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CTCGGATCCTGGGGTGGGGGA 0.592000 TSP Lung(11;0.080) 33 172 0 0 0.003271 0 0 SULF1 23213 broad.mit.edu 37 8 70513989 70513989 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:70513989G>A ENST00000260128.4 + 10 1703 c.986G>A c.(985-987)gGg>gAg p.G329E SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.G329E|SULF1_ENST00000419716.3_Missense_Mutation_p.G329E|SULF1_ENST00000458141.2_Missense_Mutation_p.G329E NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 329 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CTGGTCAAGGGGAAATCCATG 0.443000 14 107 0 0 0.002450 0 0 QARS 5859 broad.mit.edu 37 3 49140834 49140834 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:49140834G>A ENST00000306125.6 - 5 797 c.460C>T c.(460-462)Cgg>Tgg p.R154W QARS_ENST00000414533.1_Missense_Mutation_p.R143W|QARS_ENST00000420147.2_Missense_Mutation_p.R172W P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 154 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding p.R154W(1) breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) AGCACAGCCCGAGCCTCTCCT 0.522000 14 70 0 0 0.004007 0 0 MAP10 54627 broad.mit.edu 37 1 232943108 232943108 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:232943108G>A ENST00000418460.1 + 1 2466 c.2339G>A c.(2338-2340)gGa>gAa p.G780E NM_019090.2 NP_061963.2 microtubule-associated protein 10 ATTCTGGGAGGAAATGTGGAA 0.353000 62 101 0 0 0.003610 0 0 RBP3 5949 broad.mit.edu 37 10 48381932 48381932 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:48381932C>T ENST00000224600.4 - 4 3830 c.3717G>A c.(3715-3717)cgG>cgA p.R1239R NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1239 lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGCCTGGGCTCCGCTTCACCC 0.647000 4 26 0 0 0.000248 0 0 AGAP2 116986 broad.mit.edu 37 12 58125225 58125225 + Missense_Mutation SNP G G T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:58125225G>T ENST00000257897.3 - 10 1146 c.1061C>A c.(1060-1062)tCc>tAc p.S354Y AGAP2_ENST00000547588.1_Missense_Mutation_p.S690Y NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 690 Interaction with PLCG1 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 TTTGTTCAAGGAATTGCCACT 0.483000 6 75 2.0095e-06 3.12708e-06 0.001984 1 0 OR1C1 26188 broad.mit.edu 37 1 247921374 247921374 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:247921374C>T ENST00000408896.2 - 1 608 c.335G>A c.(334-336)aGc>aAc p.S112N NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CAGAAGGAGGCTGTCCATATT 0.478000 5 50 0 0 0.000602 0 0 ROBO2 6092 broad.mit.edu 37 3 77623788 77623788 + Missense_Mutation SNP A A C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:77623788A>C ENST00000461745.1 + 14 3010 c.2110A>C c.(2110-2112)Aag>Cag p.K704Q ROBO2_ENST00000332191.8_Missense_Mutation_p.K704Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.K720Q NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 704 Fibronectin type-III 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) CAACCTGAAAAAGGGGGTGAC 0.428000 14 34 0 0 0.002450 0 0 HERC2 8924 broad.mit.edu 37 15 28443628 28443628 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:28443628G>A ENST00000261609.7 - 50 8015 c.7907C>T c.(7906-7908)tCt>tTt p.S2636F NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2636 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GATGTGAGAAGAAGAACTTGG 0.393000 11 54 0 0 0.000978 0 0 SNX13 23161 broad.mit.edu 37 7 17843141 17843141 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:17843141G>A ENST00000409389.1 - 21 2332 c.2160C>T c.(2158-2160)tcC>tcT p.S720S SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Silent_p.S709S Q9Y5W8 SNX13_HUMAN sorting nexin 13 720 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) TATCAGGAAGGGATTTAACTG 0.348000 5 21 0 0 0.000602 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 74 0 0 0.000248 0 0 LTBP3 4054 broad.mit.edu 37 11 65315462 65315462 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:65315462G>A ENST00000301873.5 - 12 2043 c.1775C>T c.(1774-1776)cCg>cTg p.P592L LTBP3_ENST00000532932.1_Missense_Mutation_p.P22L|LTBP3_ENST00000322147.4_Missense_Mutation_p.P592L|LTBP3_ENST00000536982.1_Missense_Mutation_p.P218L NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 592 Cys-rich.|EGF-like 3. extracellular region calcium ion binding|growth factor binding p.P592L(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 AGGGGGGCCCGGCACGCACTC 0.672000 9 52 0 0 0.008291 0 0 SNHG14 104472715 broad.mit.edu 37 15 25420141 25420141 + RNA SNP A A C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:25420141A>C ENST00000441592.2 + 0 179 SNORD115-3_ENST00000363100.1_RNA GCTTAGTAGGATTACGCTGAG 0.493000 23 271 0 0 0.002780 0 0 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 213 0 0 0.000602 0 0 TRIM24 8805 broad.mit.edu 37 7 138239559 138239559 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:138239559C>T ENST00000343526.4 + 9 1593 c.1378C>T c.(1378-1380)Cca>Tca p.P460S TRIM24_ENST00000415680.2_Missense_Mutation_p.P460S|TRIM24_ENST00000497516.1_3'UTR O15164 TIF1A_HUMAN tripartite motif containing 24 460 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 ATCCAAGTTCCCAACACAGAT 0.498000 9 94 0 0 0.004482 0 0 OR8S1 341568 broad.mit.edu 37 12 48919456 48919456 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:48919456C>T ENST00000310194.1 + 1 42 c.42C>T c.(40-42)ctC>ctT p.L14L OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AGTTCCTCCTCCTTGGGCTGT 0.502000 23 104 0 0 0.004656 0 0 SPON1 10418 broad.mit.edu 37 11 14280924 14280924 + RNA SNP T T G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:14280924T>G ENST00000310358.7 + 0 2126 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TGTGAAGCAGTTCCCGGAGGA 0.662000 6 23 0 0 0.001168 0 0 CLDN4 1364 broad.mit.edu 37 7 73245960 73245960 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:73245960C>T ENST00000435050.1 + 2 3109 c.429C>T c.(427-429)atC>atT p.I143I CLDN4_ENST00000431918.1_Silent_p.I143I|CLDN4_ENST00000340958.2_Silent_p.I143I O14493 CLD4_HUMAN claudin 4 143 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) CCCACAACATCATCCAAGACT 0.632000 7 39 0 0 0.003080 0 0 RHOXF1 158800 broad.mit.edu 37 X 119249375 119249375 + Splice_Site SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:119249375C>T ENST00000217999.2 - 1 472 c.398_splice c.e1+1 p.R133_splice RP4-755D9.1_ENST00000553843.1_RNA NM_139282.1 NP_644811.1 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 133 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 GGCCACTTACCTTGTGGGCAC 0.542000 8 37 0 0 0.006214 0 0 STK11IP 114790 broad.mit.edu 37 2 220466125 220466125 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:220466125T>C ENST00000456909.1 + 3 320 c.230T>C c.(229-231)tTt>tCt p.F77S STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Missense_Mutation_p.F88S Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 88 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGCTTCAGTTTCTCTTCGAT 0.552000 9 37 0 0 0.006214 0 0 IGHV3-38 28429 broad.mit.edu 37 14 106866454 106866454 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:106866454C>T ENST00000390618.2 - 0 377 TCAGGTTGTTCATTTGAAGAT 0.507000 13 107 0 0 0.003163 0 0 KIAA1147 57189 broad.mit.edu 37 7 141385412 141385412 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:141385412G>A ENST00000536163.1 - 3 392 c.393C>T c.(391-393)ttC>ttT p.F131F KIAA1147_ENST00000482493.1_Silent_p.F40F NM_001080392.1 NP_001073861.1 A4D1U4 LCHN_HUMAN KIAA1147 131 breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1) 12 Melanoma(164;0.0171) AGGCCAGGCCGAAGAAGGGCC 0.517000 10 48 0 0 0.001368 0 0 RAB40AL 282808 broad.mit.edu 37 X 102192924 102192924 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:102192924C>T ENST00000218249.5 + 1 725 c.678C>T c.(676-678)tcC>tcT p.S226S LL0XNC01-237H1.3_ENST00000413528.1_RNA NM_001031834.1 NP_001027004.1 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 226 SOCS box. protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding endometrium(4)|large_intestine(2)|lung(3)|ovary(3) 12 AGTCCTTCTCCATGGCTAAGG 0.572000 18 52 0 0 0.006122 0 0 LRP1B 53353 broad.mit.edu 37 2 141812716 141812716 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:141812716G>A ENST00000389484.3 - 10 2492 c.1521C>T c.(1519-1521)ttC>ttT p.F507F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 507 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) TTCCCAAGTTGAAGCCAGTCC 0.433000 TSP Lung(27;0.18) 10 42 0 0 0.008291 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786421 121786421 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:121786421G>A ENST00000261367.7 + 12 3448 c.2020G>A c.(2020-2022)Gaa>Aaa p.E674K SNCAIP_ENST00000379538.3_Missense_Mutation_p.E261K|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E567K|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E627K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E674K|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E229K|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E185K|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 627 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) ATTGGGAAAGGAAATCTCAGA 0.458000 13 70 0 0 0.001855 0 0 CAMKK2 10645 broad.mit.edu 37 12 121693421 121693421 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:121693421G>A ENST00000324774.5 - 9 1667 c.839C>T c.(838-840)aCc>aTc p.T280I CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000392473.2_Missense_Mutation_p.T280I|CAMKK2_ENST00000545538.1_Missense_Mutation_p.T67I|CAMKK2_ENST00000538733.1_Missense_Mutation_p.T280I|CAMKK2_ENST00000392474.2_Missense_Mutation_p.T280I|CAMKK2_ENST00000446440.2_Missense_Mutation_p.T280I|CAMKK2_ENST00000412367.2_Missense_Mutation_p.T280I|CAMKK2_ENST00000404169.3_Missense_Mutation_p.T280I|CAMKK2_ENST00000402834.4_Missense_Mutation_p.T280I|CAMKK2_ENST00000347034.2_Missense_Mutation_p.T280I|CAMKK2_ENST00000337174.3_Missense_Mutation_p.T280I NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 280 Protein kinase. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGGTTTGAGGGTGGGCACTTC 0.582000 37 208 0 0 0.004878 0 0 LRP2 4036 broad.mit.edu 37 2 169996061 169996061 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:169996061G>A ENST00000263816.3 - 73 13544 c.13259C>T c.(13258-13260)cCa>cTa p.P4420L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4420 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACTTGTTCCTGGAGAGATGCC 0.403000 25 116 0 0 0.006320 0 0 STT3A 3703 broad.mit.edu 37 11 125466960 125466960 + Missense_Mutation SNP C C A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:125466960C>A ENST00000392708.4 + 3 254 c.95C>A c.(94-96)tCc>tAc p.S32Y STT3A_ENST00000529196.1_Missense_Mutation_p.S32Y|STT3A_ENST00000531491.1_5'UTR NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 32 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) GCAGCCTTCTCCACTCGTCTG 0.378000 17 95 1.01871e-10 1.59952e-10 0.008871 1 0 OR52K1 390036 broad.mit.edu 37 11 4510973 4510973 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:4510973C>T ENST00000307632.3 + 1 865 c.843C>T c.(841-843)ttC>ttT p.F281F NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) TTGCTATTTTCTATCTCCTTT 0.483000 18 121 0 0 0.007413 0 0 ANGPT1 284 broad.mit.edu 37 8 108315502 108315502 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:108315502G>A ENST00000520734.1 - 4 587 c.302C>T c.(301-303)aCt>aTt p.T101I ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.T100I Q15389 ANGP1_HUMAN angiopoietin 1 301 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) AATATAAATAGTGTAGATTCC 0.343000 11 49 0 0 0.008291 0 0 DNAH3 55567 broad.mit.edu 37 16 20959850 20959850 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:20959850G>A ENST00000261383.3 - 57 11297 c.11298C>T c.(11296-11298)ctC>ctT p.L3766L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3766 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) CTCCAGGAGCGAGGGAGTAAT 0.542000 11 39 0 0 0.008291 0 0 FAM184A 79632 broad.mit.edu 37 6 119345824 119345824 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:119345824C>T ENST00000338891.7 - 2 757 c.314G>A c.(313-315)aGa>aAa p.R105K FAM184A_ENST00000521531.1_Missense_Mutation_p.R105K|FAM184A_ENST00000368475.4_5'UTR|FAM184A_ENST00000352896.5_5'UTR|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_5'UTR NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 105 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 AATCTTTCTTCTAAGGTCTAG 0.338000 9 34 0 0 0.006214 0 0 BAGE2 85319 broad.mit.edu 37 21 11039050 11039050 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr21:11039050C>T ENST00000470054.1 - 0 1153 B melanoma antigen family, member 2 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) TTTCAGAGTCCATCAATCCAG 0.378000 8 334 0 0 0.004482 0 0 LIPI 149998 broad.mit.edu 37 21 15538686 15538686 + Missense_Mutation SNP A A G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr21:15538686A>G ENST00000344577.2 - 5 818 c.793T>C c.(793-795)Tca>Cca p.S265P LIPI_ENST00000536861.1_Missense_Mutation_p.S244P NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 244 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) AGTATACCTGAGAAAATTGAT 0.348000 22 84 0 0 0.002780 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35130022 35130022 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:35130022C>T ENST00000436258.1 - 0 3347 GGCAGATTTTCGACTATATGT 0.274000 15 89 0 0 0.002450 0 0 NRAP 4892 broad.mit.edu 37 10 115364582 115364582 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:115364582C>T ENST00000369358.4 - 35 4281 c.4037G>A c.(4036-4038)gGc>gAc p.G1346D NRAP_ENST00000369360.3_Missense_Mutation_p.G1311D|NRAP_ENST00000360478.3_Missense_Mutation_p.G1303D|NRAP_ENST00000359988.3_Missense_Mutation_p.G1338D Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1338 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTGCAGCTGGCCCATGCGCCG 0.592000 20 94 0 0 0.001523 0 0 LGR6 59352 broad.mit.edu 37 1 202287105 202287105 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:202287105C>T ENST00000367278.3 + 18 1763 c.1674C>T c.(1672-1674)ctC>ctT p.L558L LGR6_ENST00000255432.7_Silent_p.L506L|LGR6_ENST00000439764.2_Silent_p.L419L NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 558 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GTGAGTACCTCTTTGAAAGCT 0.607000 6 104 0 0 0.001168 0 0 IL24 11009 broad.mit.edu 37 1 207074886 207074886 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:207074886G>A ENST00000294984.2 + 5 625 c.351G>A c.(349-351)ttG>ttA p.L117L IL24_ENST00000391929.3_Silent_p.L118L|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000367093.3_Intron NM_001185156.1|NM_006850.3 NP_001172085.1|NP_006841.1 Q13007 IL24_HUMAN interleukin 24 117 apoptosis extracellular space cytokine activity endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(84;0.201) AGTTCTACTTGAAAACTGTTT 0.498000 27 33 0 0 0.007291 0 0 PADI3 51702 broad.mit.edu 37 1 17601261 17601261 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:17601261C>T ENST00000375460.3 + 11 1327 c.1287C>T c.(1285-1287)ctC>ctT p.L429L NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 429 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGAGGATCCTCATTGGGGGCA 0.622000 OREG0013148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 58 0 0 0.004007 0 0 CRY1 1407 broad.mit.edu 37 12 107395556 107395556 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:107395556G>A ENST00000008527.5 - 4 1448 c.581C>T c.(580-582)tCa>tTa p.S194L NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 194 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 CTCTTCCAGTGAAGGGACTCC 0.388000 23 106 0 0 0.003330 0 0 USP25 29761 broad.mit.edu 37 21 17191160 17191160 + Nonsense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr21:17191160C>T ENST00000285681.2 + 10 1444 c.1075C>T c.(1075-1077)Caa>Taa p.Q359* USP25_ENST00000285679.6_Nonsense_Mutation_p.Q359*|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Nonsense_Mutation_p.Q359* Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 359 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) AAAATCAGGCCAAGAGGTGAG 0.383000 27 111 0 0 0.005443 0 0 IGFN1 91156 broad.mit.edu 37 1 201195175 201195175 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:201195175G>A ENST00000335211.4 + 22 10840 c.10710G>A c.(10708-10710)agG>agA p.R3570R IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ACCACTTCAGGGTGGTGGCCA 0.677000 11 34 0 0 0.001855 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725418 106725418 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:106725418C>T ENST00000390609.2 - 0 212 AAAGGTGAATCCAGAGGCTGC 0.577000 21 238 0 0 0.001882 0 0 SPDEF 25803 broad.mit.edu 37 6 34511828 34511828 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:34511828C>T ENST00000374037.3 - 2 819 c.405G>A c.(403-405)gaG>gaA p.E135E SPDEF_ENST00000544425.1_Silent_p.E135E NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 135 PNT. negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 TGCAGGCCGTCTCGATGTCCT 0.642000 8 25 0 0 0.006214 0 0 CDH13 1012 broad.mit.edu 37 16 83704403 83704403 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:83704403C>T ENST00000566620.1 + 9 1400 c.1110C>T c.(1108-1110)gcC>gcT p.A370A CDH13_ENST00000428848.3_Silent_p.A331A|CDH13_ENST00000268613.10_Silent_p.A417A NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 370 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) AGTTTCAAGCCACAGTCGAGG 0.433000 10 45 0 0 0.000978 0 0 SUGP2 10147 broad.mit.edu 37 19 19135694 19135694 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:19135694G>A ENST00000601879.1 - 3 1760 c.1463C>T c.(1462-1464)tCc>tTc p.S488F SUGP2_ENST00000452918.2_Missense_Mutation_p.S488F|SUGP2_ENST00000600377.1_Missense_Mutation_p.S502F|SUGP2_ENST00000337018.6_Missense_Mutation_p.S488F|SUGP2_ENST00000456085.2_Missense_Mutation_p.S257F Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 488 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 AGAGGCCAAGGAAAATGTCTG 0.512000 23 129 0 0 0.002780 0 0 TMEM132A 54972 broad.mit.edu 37 11 60701033 60701033 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:60701033C>T ENST00000005286.4 + 8 1532 c.1379C>T c.(1378-1380)gCc>gTc p.A460V TMEM132A_ENST00000453848.2_Missense_Mutation_p.A459V NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 459 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GCCTGTGATGCCGTGTTCGTG 0.701000 5 19 0 0 0.001984 0 0 DCHS2 54798 broad.mit.edu 37 4 155241596 155241596 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:155241596C>T ENST00000357232.3 - 14 3589 c.3590G>A c.(3589-3591)gGa>gAa p.G1197E NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1197 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGTTACTTTTCCATTCCTTCC 0.413000 23 100 0 0 0.002299 0 0 KCNV2 169522 broad.mit.edu 37 9 2717765 2717765 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:2717765G>A ENST00000382082.3 + 1 264 c.26G>A c.(25-27)cGg>cAg p.R9Q NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 9 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) GAGAGGAGACGGTCCTGGAGC 0.622000 13 70 0 0 0.001855 0 0 IGHV3-30 28439 broad.mit.edu 37 14 106791273 106791273 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:106791273C>T ENST00000390613.2 - 0 162 GACCACGCCTCCCCCAGACTC 0.562000 7 112 0 0 0.003080 0 0 C3AR1 719 broad.mit.edu 37 12 8212497 8212497 + Missense_Mutation SNP G G C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:8212497G>C ENST00000307637.4 - 2 488 c.285C>G c.(283-285)tgC>tgG p.C95W NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 95 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) GGATGAGCTTGCATAGGAACC 0.557000 8 47 0 0 0.004482 0 0 FRG1B 284802 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 7 94 0 0 0.001984 0 0 GP5 2814 broad.mit.edu 37 3 194118241 194118241 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:194118241G>A ENST00000401815.1 - 1 842 c.771C>T c.(769-771)ctC>ctT p.L257L GP5_ENST00000323007.3_Silent_p.L257L P40197 GPV_HUMAN glycoprotein V (platelet) 257 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GCGCAGAGGGGAGAAACGCAA 0.577000 10 77 0 0 0.008291 0 0 PARN 5073 broad.mit.edu 37 16 14645907 14645907 + Missense_Mutation SNP G G T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:14645907G>T ENST00000437198.2 - 21 1592 c.1451C>A c.(1450-1452)tCc>tAc p.S484Y PARN_ENST00000539279.1_Missense_Mutation_p.S309Y|PARN_ENST00000420015.2_Missense_Mutation_p.S438Y|PARN_ENST00000341484.7_Missense_Mutation_p.S423Y NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 484 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 CTGGCTAAGGGAAACAAATGC 0.403000 40 176 1.30475e-32 2.05976e-32 0.002222 1 0 FCRL6 343413 broad.mit.edu 37 1 159785421 159785421 + Silent SNP C C T rs147129045 byFrequency TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:159785421C>T ENST00000368106.3 + 10 1276 c.1275C>T c.(1273-1275)ccC>ccT p.P425P FCRL6_ENST00000321935.6_3'UTR|FCRL6_ENST00000339348.5_3'UTR NM_001004310.2 NP_001004310.2 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 425 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) TCCAAGAACCCCTTAGCGACT 0.552000 32 69 0 0 0.002096 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12952765 12952765 + Missense_Mutation SNP G G C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:12952765G>C ENST00000235347.4 - 4 1486 c.1407C>G c.(1405-1407)gaC>gaG p.D469E NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 469 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|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) AAAGATGGAAGTCCACTTTCT 0.488000 3 6 0 0 0.001168 0 0 VWF 7450 broad.mit.edu 37 12 6061613 6061613 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:6061613C>T ENST00000261405.5 - 49 8313 c.8059G>A c.(8059-8061)Gag>Aag p.E2687K NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2687 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ACCCTCTTCTCCCAGAAGTAC 0.498000 7 34 0 0 0.003080 0 0 NPR2 4882 broad.mit.edu 37 9 35800785 35800785 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:35800785C>T ENST00000342694.2 + 6 1553 c.1298C>T c.(1297-1299)cCc>cTc p.P433L NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 433 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GGGGCTCCTCCCTCGGACAAT 0.577000 9 50 0 0 0.004482 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885871 88885871 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:88885871G>A ENST00000319675.3 - 1 425 c.329C>T c.(328-330)cCt>cTt p.P110L NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 110 p.P110H(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CCGGAGCTCAGGGGTCGTCAG 0.537000 23 107 0 0 0.004656 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518303 113518303 + Silent SNP C C T rs150965727 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:113518303C>T ENST00000284601.3 - 4 2912 c.2844G>A c.(2842-2844)acG>acA p.T948T NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 948 glycogen metabolic process integral to membrane p.T948T(3) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTCTGATTTCGTAGAAATAG 0.378000 11 66 0 0 0.001368 0 0 CENPF 1063 broad.mit.edu 37 1 214818462 214818462 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:214818462C>T ENST00000366955.3 + 13 5717 c.5549C>T c.(5548-5550)tCt>tTt p.S1850F NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1946 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GAATATTTTTCTTGTGATCAC 0.338000 4 26 0 0 0.000248 0 0 MAP2 4133 broad.mit.edu 37 2 210557650 210557650 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:210557650C>T ENST00000360351.4 + 7 1262 c.756C>T c.(754-756)ctC>ctT p.L252L MAP2_ENST00000447185.1_Silent_p.L248L|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 252 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GCATTGACCTCCCTAAAGAGC 0.473000 6 59 0 0 0.001984 0 0 NUP210L 91181 broad.mit.edu 37 1 154091161 154091161 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:154091161G>A ENST00000368559.3 - 11 1521 c.1450C>T c.(1450-1452)Cgt>Tgt p.R484C NUP210L_ENST00000271854.3_Missense_Mutation_p.R484C NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 484 integral to membrane p.R484C(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ACTTTATAACGATATAACATT 0.328000 23 187 0 0 0.002780 0 0 KIAA1045 23349 broad.mit.edu 37 9 34972400 34972400 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:34972400C>T ENST00000242315.3 + 3 518 c.436C>T c.(436-438)Ccg>Tcg p.P146S KIAA1045_ENST00000544237.1_Missense_Mutation_p.P146S|KIAA1045_ENST00000476115.2_Intron NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 146 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) GAGCCTCTTCCCGTGCAGGGT 0.557000 23 115 0 0 0.003330 0 0 PTPRH 5794 broad.mit.edu 37 19 55702912 55702912 + Missense_Mutation SNP T T G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:55702912T>G ENST00000376350.3 - 12 2363 c.2341A>C c.(2341-2343)Aag>Cag p.K781Q PTPRH_ENST00000263434.5_Missense_Mutation_p.K603Q NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 781 K -> N (in dbSNP:rs2288523). apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TGCTTCTTCTTATTCCTGGGA 0.552000 35 160 0 0 0.004289 0 0 TTN 7273 broad.mit.edu 37 2 179612014 179612014 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:179612014C>T ENST00000360870.5 - 46 15335 c.15113G>A c.(15112-15114)aGa>aAa p.R5038K TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1142 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) TGTTGAATATCTTTCAGCAAC 0.428000 9 53 0 0 0.004482 0 0 ZNF276 92822 broad.mit.edu 37 16 89800348 89800348 + Missense_Mutation SNP A A G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:89800348A>G ENST00000289816.5 + 9 1463 c.1151A>G c.(1150-1152)cAc>cGc p.H384R ZNF276_ENST00000568064.1_Missense_Mutation_p.H367R|ZNF276_ENST00000446326.2_Missense_Mutation_p.H245R|ZNF276_ENST00000443381.2_Missense_Mutation_p.H459R NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) AAGGAGCACCACGAGGAGGTC 0.627000 3 51 0 0 0.004672 0 0 CHRNA9 55584 broad.mit.edu 37 4 40337981 40337981 + Missense_Mutation SNP A A G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:40337981A>G ENST00000310169.2 + 2 341 c.202A>G c.(202-204)Aag>Gag p.K68E NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 68 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) CTCTCAGATTAAGGATATGGT 0.393000 12 65 0 0 0.000978 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907971 12907971 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:12907971C>T ENST00000317869.6 - 2 397 c.172G>A c.(172-174)Gat>Aat p.D58N NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 p.D58N(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TTCTCCTTATCATATTGAACG 0.468000 7 75 0 0 0.003080 0 0 CSMD2 114784 broad.mit.edu 37 1 34042909 34042909 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:34042909G>A ENST00000373381.4 - 49 7739 c.7563C>T c.(7561-7563)atC>atT p.I2521I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2523 Sushi 14. 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) GACAGAGAGGGATGGCTTCGC 0.582000 14 66 0 0 0.004007 0 0 CD276 80381 broad.mit.edu 37 15 73996595 73996595 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:73996595C>T ENST00000318443.5 + 6 1453 c.1151C>T c.(1150-1152)tCc>tTc p.S384F CD276_ENST00000564751.1_Missense_Mutation_p.S166F|CD276_ENST00000561213.1_Missense_Mutation_p.S384F|CD276_ENST00000318424.5_Missense_Mutation_p.S166F|CD276_ENST00000537340.2_Missense_Mutation_p.S238F NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule 384 Ig-like C2-type 2. cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 ATCACGTGCTCCAGCTACCGG 0.652000 8 37 0 0 0.003080 0 0 PCDH18 54510 broad.mit.edu 37 4 138442743 138442743 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:138442743G>A ENST00000344876.4 - 4 3234 c.2848C>T c.(2848-2850)Cca>Tca p.P950S PCDH18_ENST00000511115.1_Missense_Mutation_p.P130S|PCDH18_ENST00000510305.1_Missense_Mutation_p.P161S|PCDH18_ENST00000507846.1_Missense_Mutation_p.P729S|PCDH18_ENST00000412923.2_Missense_Mutation_p.P949S NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 950 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) TCTTCCCCTGGAATGAACATG 0.532000 19 121 0 0 0.008871 0 0 BSN 8927 broad.mit.edu 37 3 49695561 49695561 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:49695561C>T ENST00000296452.4 + 5 8686 c.8572C>T c.(8572-8574)Ccc>Tcc p.P2858S NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2858 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCCCCTCAGCCCCACCGCCGA 0.642000 11 38 0 0 0.001368 0 0 ZNF317 57693 broad.mit.edu 37 19 9272087 9272087 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:9272087C>T ENST00000247956.6 + 7 2071 c.1766C>T c.(1765-1767)tCc>tTc p.S589F ZNF317_ENST00000360385.3_Missense_Mutation_p.S557F NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TTTGTGTCATCCGTGTGGAAA 0.552000 12 68 0 0 0.001368 0 0 NUDT7 283927 broad.mit.edu 37 16 77769818 77769818 + Nonsense_Mutation SNP G G T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:77769818G>T ENST00000268533.5 + 3 352 c.283G>T c.(283-285)Gag>Tag p.E95* NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000437314.3_Intron|NUDT7_ENST00000568787.1_Nonsense_Mutation_p.E95*|NUDT7_ENST00000564085.1_Nonsense_Mutation_p.E95* NM_001105663.2 NP_001099133.1 P0C024 NUDT7_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 7 95 Nudix hydrolase. nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18 GGAAGCCCAGGAGGAAGTGGG 0.552000 23 53 2.98393e-07 4.66006e-07 0.002780 1 0 PZP 5858 broad.mit.edu 37 12 9345243 9345243 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:9345243G>A ENST00000261336.2 - 12 1375 c.1347C>T c.(1345-1347)tcC>tcT p.S449S PZP_ENST00000381997.2_Silent_p.S318S NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TTCCACTTAAGGAGAAAACAC 0.498000 13 76 0 0 0.001855 0 0 CEP95 90799 broad.mit.edu 37 17 62506306 62506306 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:62506306C>T ENST00000556440.2 + 3 674 c.164C>T c.(163-165)cCt>cTt p.P55L CEP95_ENST00000553412.1_5'UTR|CEP95_ENST00000581056.1_Missense_Mutation_p.P55L NM_138363.1 NP_612372.1 Q96GE4 CEP95_HUMAN centrosomal protein 95kDa 55 centrosome|spindle pole protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 ATAGTTATTCCTAGGAGTCAA 0.418000 3 18 0 0 0.004672 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533857 156533857 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:156533857G>A ENST00000307851.4 - 2 905 c.175C>T c.(175-177)Cct>Tct p.P59S HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Missense_Mutation_p.P59S|CTB-120L21.1_ENST00000517708.1_RNA NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 59 Ig-like V-type. integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCAAACACAGGACAGGCTCCT 0.547000 84 589 0 0 0.003610 0 0 KIF4B 285643 broad.mit.edu 37 5 154395225 154395225 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:154395225C>T ENST00000435029.4 + 1 1966 c.1806C>T c.(1804-1806)ctC>ctT p.L602L NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 602 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) ACAAACTTCTCCAGGAGCTGG 0.453000 14 60 0 0 0.002450 0 0 CAP2 10486 broad.mit.edu 37 6 17507493 17507493 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:17507493C>T ENST00000229922.2 + 5 926 c.394C>T c.(394-396)Cat>Tat p.H132Y CAP2_ENST00000378990.2_Missense_Mutation_p.H106Y|CAP2_ENST00000489374.1_Intron|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.H132Y NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 132 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) CATGTTTAATCATCTTTCGGC 0.483000 17 53 0 0 0.006122 0 0 CACNA1I 8911 broad.mit.edu 37 22 39966957 39966957 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr22:39966957G>A ENST00000336649.4 + 1 200 c.200G>A c.(199-201)aGc>aAc p.S67N CACNA1I_ENST00000404898.1_Missense_Mutation_p.S67N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S67N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S67N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S67N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S67N Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 67 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) CAGACCACCAGCCCCCGGAAC 0.642000 35 58 0 0 0.004878 0 0 KCNK5 8645 broad.mit.edu 37 6 39158827 39158827 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:39158827C>T ENST00000359534.3 - 5 1677 c.1339G>A c.(1339-1341)Gag>Aag p.E447K NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 447 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TGGGGGCTCTCCTCCCCTGCC 0.627000 4 15 0 0 0.000248 0 0 LIN54 132660 broad.mit.edu 37 4 83849306 83849306 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:83849306G>A ENST00000340417.3 - 13 2576 c.2199C>T c.(2197-2199)gtC>gtT p.V733V LIN54_ENST00000506560.1_Silent_p.V644V|LIN54_ENST00000505905.1_5'UTR|LIN54_ENST00000446851.2_Silent_p.V512V|LIN54_ENST00000442461.2_Silent_p.V512V|LIN54_ENST00000395283.2_Silent_p.V644V|LIN54_ENST00000510557.1_Silent_p.V512V|LIN54_ENST00000505397.1_Silent_p.V733V|LIN54_ENST00000395282.2_3'UTR NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 733 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) CAGAGTTGATGACACTCATCA 0.458000 12 47 0 0 0.001368 0 0 ANK3 288 broad.mit.edu 37 10 61834980 61834980 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:61834980G>A ENST00000280772.1 - 37 5850 c.5659C>T c.(5659-5661)Ctt>Ttt p.L1887F ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1887 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GACAACTTAAGGGCAGAGGGT 0.433000 11 66 0 0 0.001368 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870105 51870105 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:51870105C>T ENST00000371497.5 + 2 995 c.108C>T c.(106-108)agC>agT p.S36S TSHZ2_ENST00000603338.2_Silent_p.S33S|TSHZ2_ENST00000329613.6_Silent_p.S33S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 36 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S36S(1) 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) aggaggaCAGCGGTTCAGTAG 0.527000 26 34 0 0 0.003330 0 0 ADAM7 8756 broad.mit.edu 37 8 24342868 24342868 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:24342868C>T ENST00000175238.6 + 10 1037 c.954C>T c.(952-954)atC>atT p.I318I ADAM7_ENST00000380789.1_Silent_p.I318I|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Silent_p.I90I NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 318 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) CCACCAGTATCATTAAGGTGG 0.363000 7 69 0 0 0.001984 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323049 79323049 + Missense_Mutation SNP C C G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:79323049C>G ENST00000428286.1 - 8 4264 c.3064G>C c.(3064-3066)Ggc>Cgc p.G1022R PRUNE2_ENST00000376718.3_Missense_Mutation_p.G1381R Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1381 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTGATTTTGCCTGATTTAATG 0.463000 6 50 0 0 0.001984 0 0 PKN3 29941 broad.mit.edu 37 9 131476899 131476899 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:131476899C>T ENST00000291906.4 + 12 1933 c.1540C>T c.(1540-1542)Cca>Tca p.P514S PKN3_ENST00000485301.1_3'UTR NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 514 Pro-rich. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 ACCCAAGCCCCCACGCCTCTA 0.637000 6 42 0 0 0.001168 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939256 2939256 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:2939256G>A ENST00000378404.2 + 1 1211 c.1006G>A c.(1006-1008)Gac>Aac p.D336N NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 336 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) GGCTCCCCCCGACCGGTGGTT 0.617000 21 86 0 0 0.008871 0 0 DSCAM 1826 broad.mit.edu 37 21 41719715 41719715 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr21:41719715C>T ENST00000400454.1 - 6 1569 c.1092G>A c.(1090-1092)ggG>ggA p.G364G NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 364 Ig-like C2-type 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 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) CGTGGTTGATCCCTGTGATCC 0.502000 57 228 0 0 0.003610 0 0 SULF2 55959 broad.mit.edu 37 20 46311799 46311799 + Missense_Mutation SNP A A G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:46311799A>G ENST00000359930.4 - 7 1854 c.1003T>C c.(1003-1005)Tat>Cat p.Y335H SULF2_ENST00000361612.4_Missense_Mutation_p.Y335H|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000467815.1_Missense_Mutation_p.Y335H|SULF2_ENST00000484875.1_Missense_Mutation_p.Y335H NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 335 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 TCAAACTCATATGGCATGGAT 0.592000 6 78 0 0 0.001168 0 0 PLCH1 23007 broad.mit.edu 37 3 155314053 155314053 + Nonsense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:155314053C>T ENST00000460012.1 - 3 461 c.104G>A c.(103-105)tGg>tAg p.W35* PLCH1_ENST00000447496.2_Nonsense_Mutation_p.W53*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.W35*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.W53*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.W35*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.W53* Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 53 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGAGGGTCGCCATCGGAGGCG 0.498000 29 129 0 0 0.006320 0 0 PRSS23 11098 broad.mit.edu 37 11 86518990 86518990 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:86518990G>A ENST00000280258.5 + 2 730 c.305G>A c.(304-306)gGc>gAc p.G102D PRSS23_ENST00000441050.1_Missense_Mutation_p.G70D|PRSS23_ENST00000533902.2_Intron NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 102 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACGCAGGTGGGCATCTACATC 0.527000 11 68 0 0 0.000978 0 0 NOX4 50507 broad.mit.edu 37 11 89155089 89155089 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:89155089G>A ENST00000535633.1 - 8 848 c.538C>T c.(538-540)Ctg>Ttg p.L180L NOX4_ENST00000528341.1_Silent_p.L179L|NOX4_ENST00000542487.1_Silent_p.L180L|NOX4_ENST00000413594.2_Silent_p.L225L|NOX4_ENST00000525196.1_Silent_p.L204L|NOX4_ENST00000534731.1_Silent_p.L204L|NOX4_ENST00000424319.1_Silent_p.L180L|NOX4_ENST00000263317.4_Silent_p.L204L|NOX4_ENST00000343727.5_Silent_p.L180L|NOX4_ENST00000527626.1_Silent_p.L38L|NOX4_ENST00000527956.1_Silent_p.L180L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000532825.1_Silent_p.L180L NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 204 Ferric oxidoreductase. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TGCAACGTCAGCAGCATGTAG 0.328000 9 45 0 0 0.008291 0 0 NALCN 259232 broad.mit.edu 37 13 101760095 101760095 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:101760095C>T ENST00000251127.6 - 21 2491 c.2410G>A c.(2410-2412)Gaa>Aaa p.E804K NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 804 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATCTTTATTTCACTGTCTTCT 0.393000 4 43 0 0 0.000248 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) GAAATCTCTTTATAAAACCTT 0.343000 5 58 0 0 0.001168 0 0 ETV5 2119 broad.mit.edu 37 3 185766568 185766568 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:185766568G>A ENST00000306376.5 - 13 1639 c.1393C>T c.(1393-1395)Ccg>Tcg p.P465S ETV5_ENST00000537818.1_Missense_Mutation_p.P507S|ETV5_ENST00000434744.1_Missense_Mutation_p.P465S|ETV5_ENST00000480706.1_5'UTR NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 465 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) TTCAGGAACGGACGCTGGTTA 0.592000 T """TMPRSS2, SCL45A3""" Prostate 9 29 0 0 0.006214 0 0 KIAA1210 57481 broad.mit.edu 37 X 118242374 118242374 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:118242374C>T ENST00000402510.2 - 6 837 c.838G>A c.(838-840)Gga>Aga p.G280R NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 280 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 GACATGGCTCCAGACACAACT 0.468000 20 42 0 0 0.008871 0 0 ADAM7 8756 broad.mit.edu 37 8 24300024 24300024 + Missense_Mutation SNP C C T rs137990671 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:24300024C>T ENST00000175238.6 + 2 174 c.91C>T c.(91-93)Cgt>Tgt p.R31C ADAM7_ENST00000380789.1_Missense_Mutation_p.R31C|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.R31C NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 31 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.R31C(3) 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) ACAACTGGTTCGTCCTAAAAA 0.403000 33 188 0 0 0.004878 0 0 SCN5A 6331 broad.mit.edu 37 3 38648229 38648229 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:38648229G>A ENST00000413689.1 - 9 1264 c.1071C>T c.(1069-1071)tcC>tcT p.S357S SCN5A_ENST00000455624.2_Silent_p.S357S|SCN5A_ENST00000449557.2_Silent_p.S357S|SCN5A_ENST00000451551.2_Silent_p.S357S|SCN5A_ENST00000425664.1_Silent_p.S357S|SCN5A_ENST00000414099.2_Silent_p.S357S|SCN5A_ENST00000450102.2_Silent_p.S357S|SCN5A_ENST00000443581.1_Silent_p.S357S|SCN5A_ENST00000423572.2_Silent_p.S357S|SCN5A_ENST00000333535.4_Silent_p.S357S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 357 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCCAGGCAAAGGAATCGAAGC 0.597000 8 46 0 0 0.003080 0 0 NKD1 85407 broad.mit.edu 37 16 50667112 50667112 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:50667112C>T ENST00000268459.3 + 10 1057 c.833C>T c.(832-834)tCc>tTc p.S278F NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 278 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding p.S278>?(1) 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) GGCTCCCCTTCCGTGGCCCAG 0.592000 9 52 0 0 0.006214 0 0 MARCO 8685 broad.mit.edu 37 2 119739939 119739939 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:119739939C>T ENST00000541757.1 + 13 1162 c.782C>T c.(781-783)cCc>cTc p.P261L MARCO_ENST00000327097.4_Missense_Mutation_p.P339L Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 339 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CCAGGGAGCCCCGGGAGTCCA 0.592000 30 191 0 0 0.002836 0 0 C1orf87 127795 broad.mit.edu 37 1 60463302 60463302 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:60463302G>A ENST00000371201.3 - 11 1566 c.1459C>T c.(1459-1461)Ctg>Ttg p.L487L C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Silent_p.L121L|C1orf87_ENST00000450089.2_Silent_p.L258L NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 487 calcium ion binding p.L487L(1) breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 AGATCACACAGGTAGAGGGCA 0.463000 9 53 0 0 0.006214 0 0 FBXO24 26261 broad.mit.edu 37 7 100198504 100198504 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:100198504C>T ENST00000241071.6 + 10 2047 c.1725C>T c.(1723-1725)ccC>ccT p.P575P PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.P613P|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Silent_p.P563P NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 575 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GTGTAGGGCCCCCAGCCCCTG 0.632000 6 48 0 0 0.001984 0 0 GPR35 2859 broad.mit.edu 37 2 241569855 241569855 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:241569855C>T ENST00000319838.5 + 6 1428 c.486C>T c.(484-486)tgC>tgT p.C162C GPR35_ENST00000430267.1_Silent_p.C162C|GPR35_ENST00000403859.1_Silent_p.C162C|GPR35_ENST00000407714.1_Silent_p.C162C|GPR35_ENST00000438013.2_Silent_p.C193C NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 162 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GCGGCTTCTGCTTCAGGAGCA 0.662000 15 29 0 0 0.003163 0 0 C10orf120 399814 broad.mit.edu 37 10 124457747 124457747 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:124457747C>T ENST00000329446.4 - 3 541 c.510G>A c.(508-510)agG>agA p.R170R NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 170 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) CAAGCCTCATCCTCTCTATGT 0.502000 22 103 0 0 0.002299 0 0 COPG1 22820 broad.mit.edu 37 3 128990615 128990615 + Silent SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:128990615T>C ENST00000314797.6 + 19 1953 c.1849T>C c.(1849-1851)Ttg>Ctg p.L617L NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 617 Interaction with ZNF289/ARFGAP2. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity TTCAGAGCAGTTGGCAGCAGT 0.542000 9 44 0 0 0.008291 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558546 140558546 + Missense_Mutation SNP G G A rs148140727 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:140558546G>A ENST00000239444.2 + 1 1176 c.931G>A c.(931-933)Gaa>Aaa p.E311K NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 311 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E311K(2) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTTGATTTCGAAAAATTTCA 0.383000 4 78 0 0 0.000248 0 0 EPC2 26122 broad.mit.edu 37 2 149542480 149542480 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:149542480C>T ENST00000258484.6 + 13 2295 c.2261C>T c.(2260-2262)tCg>tTg p.S754L NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 754 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) TCAGCACCATCGCCAACAGCC 0.483000 5 25 0 0 0.000602 0 0 ANK3 288 broad.mit.edu 37 10 61846616 61846616 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:61846616C>T ENST00000280772.1 - 30 3758 c.3567G>A c.(3565-3567)gtG>gtA p.V1189V ANK3_ENST00000503366.1_Silent_p.V1190V|ANK3_ENST00000355288.2_Silent_p.V323V|ANK3_ENST00000373827.2_Silent_p.V1183V NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1189 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGATCTTTTTCACAATTTCAT 0.373000 13 37 0 0 0.001368 0 0 ZNF586 54807 broad.mit.edu 37 19 58301699 58301699 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:58301699C>T ENST00000598183.1 + 2 270 c.94C>T c.(94-96)Ctt>Ttt p.L32F ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Missense_Mutation_p.L32F Q9NXT0 ZN586_HUMAN zinc finger protein 586 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATGGAGTCTTCTTAATGAGGC 0.473000 39 174 0 0 0.006230 0 0 HCN4 10021 broad.mit.edu 37 15 73616183 73616183 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:73616183C>T ENST00000261917.3 - 8 3244 c.2251G>A c.(2251-2253)Gag>Aag p.E751K NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 751 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGGGCCATCTCCCGGTCATGC 0.627000 10 66 0 0 0.006214 0 0 PCLO 27445 broad.mit.edu 37 7 82585208 82585208 + Silent SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:82585208T>C ENST00000423517.2 - 5 5398 c.5061A>G c.(5059-5061)aaA>aaG p.K1687K PCLO_ENST00000333891.8_Silent_p.K1687K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1618 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AACTTGTTTTTTTCTGTGATG 0.423000 6 59 0 0 0.001984 0 0 ACSM1 116285 broad.mit.edu 37 16 20638585 20638585 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:20638585C>T ENST00000219151.4 - 11 1516 c.306G>A c.(304-306)ggG>ggA p.G102G ACSM1_ENST00000520010.1_Silent_p.G451G|ACSM1_ENST00000307493.4_Silent_p.G451G Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 451 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TACCTCTGTCCCCAGTGTTGT 0.498000 110 344 0 0 0.003610 0 0 ITPR2 3709 broad.mit.edu 37 12 26636832 26636832 + Splice_Site SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:26636832C>T ENST00000381340.3 - 42 6228 c.e42-1 NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCAAGAAGTTCTGAAGGCAAA 0.378000 15 75 0 0 0.002450 0 0 CMYA5 202333 broad.mit.edu 37 5 79026637 79026637 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:79026637G>A ENST00000446378.2 + 2 2080 c.2049G>A c.(2047-2049)gaG>gaA p.E683E NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 683 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAGGAGACGAGGCCTCAGAAA 0.453000 7 34 0 0 0.001984 0 0 ADNP2 22850 broad.mit.edu 37 18 77895753 77895753 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr18:77895753C>T ENST00000262198.4 + 4 2912 c.2457C>T c.(2455-2457)ctC>ctT p.L819L NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 819 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GCAACCTGCTCTTTCCCCACC 0.493000 19 72 0 0 0.006122 0 0 ZNF568 374900 broad.mit.edu 37 19 37441924 37441924 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:37441924C>T ENST00000415168.1 + 5 2053 c.1677C>T c.(1675-1677)ttC>ttT p.F559F ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Silent_p.F623F NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 623 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGAAAGCATTCTCTCAAAGAG 0.368000 14 88 0 0 0.001855 0 0 NCK2 8440 broad.mit.edu 37 2 106498412 106498412 + Missense_Mutation SNP G G T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:106498412G>T ENST00000233154.4 + 4 1297 c.855G>T c.(853-855)tgG>tgT p.W285C NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.W285C|NCK2_ENST00000451463.2_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 285 SH2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GCAGAGAGTGGTACTACGGGA 0.677000 10 43 2.74318e-10 4.29175e-10 0.006214 1 0 C1QTNF9 338872 broad.mit.edu 37 13 24892988 24892988 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:24892988G>A ENST00000382071.2 + 3 284 c.199G>A c.(199-201)Gat>Aat p.D67N C1QTNF9_ENST00000332018.4_Missense_Mutation_p.D67N|C1QTNF9-AS1_ENST00000449656.1_RNA P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 67 Collagen-like 1. collagen hormone activity 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) CCCGGGGAAGGATGGGACGAG 0.463000 13 125 0 0 0.003163 0 0 PCDH10 57575 broad.mit.edu 37 4 134073333 134073333 + Missense_Mutation SNP G G C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:134073333G>C ENST00000264360.4 + 1 2864 c.2038G>C c.(2038-2040)Gat>Cat p.D680H NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 680 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TCAGCTGGTGGATGGCGCCGT 0.716000 4 23 0 0 0.000248 0 0 RELN 5649 broad.mit.edu 37 7 103301888 103301888 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:103301888C>T ENST00000424685.2 - 12 1535 c.1376G>A c.(1375-1377)aGg>aAg p.R459K RELN_ENST00000343529.5_Missense_Mutation_p.R459K|RELN_ENST00000428762.1_Missense_Mutation_p.R459K P78509 RELN_HUMAN reelin 459 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCATAATTTCCTCTCTCCATC 0.428000 7 47 0 0 0.001984 0 0 LPAR4 2846 broad.mit.edu 37 X 78011012 78011012 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:78011012C>T ENST00000435339.2 + 2 1051 c.646C>T c.(646-648)Cct>Tct p.P216S LPAR4_ENST00000373301.2_Missense_Mutation_p.P216S NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 216 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 GTTTATCATTCCTCTAATATT 0.398000 4 22 0 0 0.000248 0 0 SLIT3 6586 broad.mit.edu 37 5 168176565 168176565 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:168176565G>A ENST00000519560.1 - 19 2468 c.2049C>T c.(2047-2049)atC>atT p.I683I SLIT3_ENST00000404867.3_Silent_p.I683I|SLIT3_ENST00000332966.8_Silent_p.I683I NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 683 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCCACTGACGATCCGCCTCT 0.552000 14 103 0 0 0.002450 0 0 PPFIA2 8499 broad.mit.edu 37 12 81688660 81688660 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:81688660T>C ENST00000550584.2 - 23 3174 c.2879A>G c.(2878-2880)gAg>gGg p.E960G PPFIA2_ENST00000407050.4_Missense_Mutation_p.E886G|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E960G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E527G|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E861G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E945G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E960G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E807G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E945G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E177G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E960G NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 886 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GGAAACCATCTCCTGGATTGC 0.473000 3 26 0 0 0.004672 0 0 PDZD2 23037 broad.mit.edu 37 5 31799549 31799549 + Missense_Mutation SNP A A C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:31799549A>C ENST00000438447.1 + 2 582 c.194A>C c.(193-195)gAa>gCa p.E65A PDZD2_ENST00000282493.3_Missense_Mutation_p.E65A O15018 PDZD2_HUMAN PDZ domain containing 2 65 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 AGCCCCCCCGAAATGGAGATC 0.567000 21 111 0 0 0.002780 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 4 166 0 0 0.001168 0 0 MTUS2 23281 broad.mit.edu 37 13 29599843 29599843 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:29599843G>A ENST00000431530.3 + 1 1096 c.1038G>A c.(1036-1038)aaG>aaA p.K346K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 336 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 GATGCCACAAGGAAGAGAATC 0.562000 11 56 0 0 0.000978 0 0 FAM71B 153745 broad.mit.edu 37 5 156593007 156593007 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:156593007C>T ENST00000302938.4 - 1 268 c.173G>A c.(172-174)gGa>gAa p.G58E NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 58 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) AATCACCTCTCCCTTTTTGTT 0.478000 110 520 0 0 0.003610 0 0 HECTD4 283450 broad.mit.edu 37 12 112646369 112646369 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:112646369C>T ENST00000550722.1 - 51 7890 c.7495G>A c.(7495-7497)Ggc>Agc p.G2499S HECTD4_ENST00000430131.2_Missense_Mutation_p.G2223S|HECTD4_ENST00000377560.5_Missense_Mutation_p.G2473S NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GGGTCTGGGCCAGAGGTGATG 0.473000 16 111 0 0 0.004990 0 0 SDPR 8436 broad.mit.edu 37 2 192700988 192700988 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:192700988G>A ENST00000304141.4 - 2 1268 c.939C>T c.(937-939)acC>acT p.T313T NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 313 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) CTTCTGACTTGGTCTCATTTT 0.532000 16 118 0 0 0.003163 0 0 NRP1 8829 broad.mit.edu 37 10 33559734 33559734 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:33559734C>T ENST00000265371.4 - 4 824 c.299G>A c.(298-300)aGg>aAg p.R100K NRP1_ENST00000395995.1_Missense_Mutation_p.R100K|NRP1_ENST00000374822.4_Missense_Mutation_p.R100K|NRP1_ENST00000374823.5_Missense_Mutation_p.R100K|NRP1_ENST00000374821.5_Missense_Mutation_p.R100K|NRP1_ENST00000374816.3_Missense_Mutation_p.R100K|NRP1_ENST00000374867.2_Missense_Mutation_p.R100K O14786 NRP1_HUMAN neuropilin 1 100 CUB 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) GAACTTTCCCCTAAAATGTCC 0.408000 9 32 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9063451 9063451 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:9063451G>A ENST00000397910.4 - 3 24198 c.23995C>T c.(23995-23997)Ctt>Ttt p.L7999F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8001 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 GTCACAGGAAGAGGAGAGGAA 0.458000 5 55 0 0 0.000602 0 0 ABCB1 5243 broad.mit.edu 37 7 87214866 87214866 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:87214866C>T ENST00000265724.3 - 5 665 c.248G>A c.(247-249)gGa>gAa p.G83E ABCB1_ENST00000543898.1_Missense_Mutation_p.G83E NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 83 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTCTAAATTTCCTGCATTTGC 0.393000 7 43 0 0 0.003080 0 0 CENPE 1062 broad.mit.edu 37 4 104068604 104068604 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:104068604G>A ENST00000265148.3 - 29 4132 c.4043C>T c.(4042-4044)aCc>aTc p.T1348I CENPE_ENST00000380026.3_Missense_Mutation_p.T1323I NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1348 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCTTTCCTTGGTTAGAGATTT 0.363000 7 70 0 0 0.001984 0 0 NRXN3 9369 broad.mit.edu 37 14 79181468 79181468 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:79181468G>A ENST00000554719.1 + 5 1402 c.911G>A c.(910-912)aGa>aAa p.R304K NRXN3_ENST00000335750.5_Missense_Mutation_p.R304K NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TACTGGGGAAGAACCTGCGAA 0.592000 8 48 0 0 0.003080 0 0 MROH2B 133558 broad.mit.edu 37 5 41000375 41000375 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:41000375C>T ENST00000399564.4 - 39 4879 c.4429G>A c.(4429-4431)Gat>Aat p.D1477N MROH2B_ENST00000506092.2_Missense_Mutation_p.D1032N NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGATCCTGATCAAGGAGACGG 0.502000 11 39 0 0 0.000978 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130342957 130342957 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:130342957C>T ENST00000299164.2 + 8 2094 c.2094C>T c.(2092-2094)ttC>ttT p.F698F NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 698 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GCTACAATTTCGTGGTGGCCA 0.582000 9 76 0 0 0.008291 0 0 USH2A 7399 broad.mit.edu 37 1 216497021 216497021 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:216497021G>A ENST00000366943.2 - 8 1731 c.1345C>T c.(1345-1347)Cgt>Tgt p.R449C USH2A_ENST00000307340.3_Missense_Mutation_p.R449C|USH2A_ENST00000366942.3_Missense_Mutation_p.R449C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 449 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACATTGCCACGGGAATATGGA 0.348000 HNSCC(13;0.011) 46 57 0 0 0.003610 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151121946 151121946 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:151121946C>T ENST00000367328.1 + 7 1033 c.721C>T c.(721-723)Ctg>Ttg p.L241L PLEKHG1_ENST00000358517.2_Silent_p.L241L NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 241 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CTCGCTGCCTCTGGGGTCCTA 0.502000 9 63 0 0 0.008291 0 0 CD207 50489 broad.mit.edu 37 2 71058196 71058196 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:71058196G>A ENST00000410009.3 - 6 1017 c.972C>T c.(970-972)gtC>gtT p.V324V NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 324 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 GTTCTGATGGGACATAGGGTC 0.478000 4 26 0 0 0.000248 0 0 MYH13 8735 broad.mit.edu 37 17 10216579 10216579 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:10216579G>A ENST00000418404.3 - 29 4240 c.4077C>T c.(4075-4077)gcC>gcT p.A1359A MYH13_ENST00000252172.4_Silent_p.A1359A|MYH13_ENST00000570743.1_Silent_p.A1359A Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1359 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCTGCAGCTCGGCCTTGGCTT 0.632000 17 93 0 0 0.004990 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22314932 22314932 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:22314932C>T ENST00000390434.3 + 0 214 GCAGCGTTGCCTCTGCTCAGC 0.557000 OREG0022570 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 45 0 0 0.001984 0 0 MCM10 55388 broad.mit.edu 37 10 13214462 13214462 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:13214462C>T ENST00000378694.1 + 3 511 c.436C>T c.(436-438)Cgt>Tgt p.R146C MCM10_ENST00000378714.3_Missense_Mutation_p.R146C|MCM10_ENST00000484800.2_Missense_Mutation_p.R146C Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 146 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AAGCCCAGCCCGTCTGCAAAA 0.393000 7 74 0 0 0.001984 0 0 ZAN 7455 broad.mit.edu 37 7 100377181 100377181 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:100377181C>T ENST00000542585.1 + 0 6576 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGCGAGGCAGCGCTCCGGGCT 0.642000 8 8 0 0 0.003080 0 0 DDX3X 1654 broad.mit.edu 37 X 41205505 41205505 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:41205505T>C ENST00000399959.2 + 13 2194 c.1339T>C c.(1339-1341)Ttt>Ctt p.F447L DDX3X_ENST00000457138.2_Missense_Mutation_p.F431L|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 447 Helicase C-terminal.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GACCTTAGTGTTTGTGGAGAC 0.408000 HNSCC(61;0.18) 9 29 0 0 0.004482 0 0 KRT78 196374 broad.mit.edu 37 12 53238396 53238396 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:53238396C>T ENST00000359499.4 - 5 549 c.538G>A c.(538-540)Gag>Aag p.E180K KRT78_ENST00000304620.4_Missense_Mutation_p.E290K Q8N1N4 K2C78_HUMAN keratin 78 290 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GCGATCTCCTCGTACCGGGCG 0.627000 10 51 0 0 0.006214 0 0 CPSF3 51692 broad.mit.edu 37 2 9576467 9576467 + Missense_Mutation SNP C C A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:9576467C>A ENST00000460593.1 + 7 1764 c.626C>A c.(625-627)gCt>gAt p.A209D CPSF3_ENST00000238112.3_Missense_Mutation_p.A246D Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 246 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) CTTGGAAGGGCTCAGGAGCTG 0.423000 11 89 1.58986e-06 2.47848e-06 0.008291 1 0 MAGEB1 4112 broad.mit.edu 37 X 30269259 30269259 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:30269259G>A ENST00000378981.3 + 4 970 c.649G>A c.(649-651)Gag>Aag p.E217K MAGEB1_ENST00000397548.2_Missense_Mutation_p.E217K|MAGEB1_ENST00000397550.1_Missense_Mutation_p.E217K NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 217 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 CTCTGCCACCGAGGAAGAGAT 0.488000 6 24 0 0 0.001168 0 0 LILRA2 11027 broad.mit.edu 37 19 55086487 55086487 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:55086487G>A ENST00000251377.3 + 5 775 c.642G>A c.(640-642)gaG>gaA p.E214E LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E214E|LILRA2_ENST00000391737.1_Silent_p.E202E|LILRA2_ENST00000251376.3_Silent_p.E214E|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) ATCTCCTGGAGCTCCTGGTCC 0.597000 18 108 0 0 0.004990 0 0 CYTH3 9265 broad.mit.edu 37 7 6205223 6205223 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:6205223G>A ENST00000350796.3 - 11 1061 c.925C>T c.(925-927)Ccg>Tcg p.P309S CYTH3_ENST00000396741.2_Missense_Mutation_p.P224S NM_004227.3 NP_004218.1 O43739 CYH3_HUMAN cytohesin 3 310 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1) 19 TTTTCCAACGGGATGATTCCC 0.622000 15 88 0 0 0.004007 0 0 RHBDD2 57414 broad.mit.edu 37 7 75517552 75517552 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:75517552C>T ENST00000318622.4 + 5 1186 c.557C>T c.(556-558)tCc>tTc p.S186F RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Missense_Mutation_p.S186F|RHBDD2_ENST00000006777.6_Missense_Mutation_p.S327F NM_001040457.1 NP_001035547.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 327 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 GCGGGCACCTCCCTGGGCATC 0.647000 20 114 0 0 0.001882 0 0 C4BPA 722 broad.mit.edu 37 1 207287606 207287606 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:207287606T>C ENST00000367070.3 + 3 498 c.304T>C c.(304-306)Tgg>Cgg p.W102R NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 102 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TGATGGCGAATGGGTGTATAA 0.393000 11 93 0 0 0.001855 0 0 IFNA21 3452 broad.mit.edu 37 9 21166123 21166123 + Silent SNP G G A rs1053887 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:21166123G>A ENST00000380225.1 - 1 536 c.489C>T c.(487-489)gcC>gcT p.A163A NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 163 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAACCTCCCAGGCACAAGGGC 0.403000 41 220 0 0 0.003214 0 0 BICC1 80114 broad.mit.edu 37 10 60461895 60461895 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:60461895C>T ENST00000373886.3 + 3 303 c.299C>T c.(298-300)tCc>tTc p.S100F NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 100 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 GGAGCCAAATCCAAGAAAGGT 0.368000 3 12 0 0 0.004672 0 0 HOXA2 3199 broad.mit.edu 37 7 27140855 27140855 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:27140855G>A ENST00000222718.5 - 2 931 c.621C>T c.(619-621)aaC>aaT p.N207N NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 207 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 CGCTGTTTTGGTTTTCCTTGC 0.502000 7 67 0 0 0.003080 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118220731 118220731 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:118220731G>A ENST00000369230.3 + 7 883 c.737G>A c.(736-738)gGg>gAg p.G246E NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 246 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) CCAAATGGAGGGAAGCACATG 0.353000 11 83 0 0 0.001368 0 0 CD300A 11314 broad.mit.edu 37 17 72469868 72469868 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:72469868G>A ENST00000360141.3 + 2 522 c.234G>A c.(232-234)agG>agA p.R78R CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 78 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 TGTCCATCAGGGACAGTCCTG 0.527000 11 69 0 0 0.000978 0 0 MROH5 389690 broad.mit.edu 37 8 142505473 142505473 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:142505473C>T ENST00000430863.1 - 0 453 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TGGATGGTTTCCATCACCAGC 0.567000 18 75 0 0 0.008871 0 0 DDX6 1656 broad.mit.edu 37 11 118626210 118626210 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:118626210G>A ENST00000264018.4 - 12 1482 c.1177C>T c.(1177-1179)Ctg>Ttg p.L393L DDX6_ENST00000526070.2_Silent_p.L393L|DDX6_ENST00000534980.1_Silent_p.L393L NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 393 Helicase C-terminal. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) CGGGTAAACAGATCTTAAAAA 0.308000 T IGH@ B-NHL 10 54 0 0 0.006214 0 0 TIMD4 91937 broad.mit.edu 37 5 156353306 156353306 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:156353306G>A ENST00000274532.2 - 6 918 c.862C>T c.(862-864)Cct>Tct p.P288S TIMD4_ENST00000406964.1_5'UTR|TIMD4_ENST00000407087.3_Missense_Mutation_p.P260S NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 288 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCTGCTCAGGAACTGCTGTA 0.368000 57 424 0 0 0.003610 0 0 SNHG14 104472715 broad.mit.edu 37 15 25342897 25342897 + RNA SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:25342897G>A ENST00000546682.1 + 0 1229 SNORD116-25_ENST00000516517.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 TGTGAGCTGAGGTCCAGCACA 0.458000 9 59 0 0 0.004482 0 0 CACNA1G 8913 broad.mit.edu 37 17 48652936 48652936 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:48652936G>A ENST00000352832.5 + 8 1545 c.1173G>A c.(1171-1173)ctG>ctA p.L391L CACNA1G_ENST00000515765.1_Silent_p.L391L|CACNA1G_ENST00000429973.2_Silent_p.L391L|CACNA1G_ENST00000515411.1_Silent_p.L391L|CACNA1G_ENST00000515165.1_Silent_p.L391L|CACNA1G_ENST00000514717.1_Silent_p.L391L|CACNA1G_ENST00000354983.4_Silent_p.L391L|CACNA1G_ENST00000514181.1_Silent_p.L391L|CACNA1G_ENST00000507609.1_Silent_p.L391L|CACNA1G_ENST00000513689.2_Silent_p.L391L|CACNA1G_ENST00000502264.1_Silent_p.L391L|CACNA1G_ENST00000514079.1_Silent_p.L391L|CACNA1G_ENST00000512389.1_Silent_p.L391L|CACNA1G_ENST00000513964.1_Silent_p.L391L|CACNA1G_ENST00000510366.1_Silent_p.L391L|CACNA1G_ENST00000442258.2_Silent_p.L391L|CACNA1G_ENST00000510115.1_Silent_p.L391L|CACNA1G_ENST00000507510.2_Silent_p.L391L|CACNA1G_ENST00000416767.4_Silent_p.L391L|CACNA1G_ENST00000507336.1_Silent_p.L391L|CACNA1G_ENST00000358244.5_Silent_p.L391L|CACNA1G_ENST00000359106.5_Silent_p.L391L|CACNA1G_ENST00000360761.4_Silent_p.L391L|CACNA1G_ENST00000505165.1_Silent_p.L391L|CACNA1G_ENST00000507896.1_Silent_p.L391L|CACNA1G_ENST00000503485.1_Silent_p.L391L NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 391 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) ACCTGTGCCTGGTGGTGATTG 0.567000 5 26 0 0 0.001984 0 0 DHPS 1725 broad.mit.edu 37 19 12790530 12790530 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:12790530G>A ENST00000210060.7 - 4 633 c.498C>T c.(496-498)atC>atT p.I166I DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000594424.1_Silent_p.I124I|DHPS_ENST00000351660.5_Silent_p.I166I NM_001930.3 NP_001921.1 P49366 DHYS_HUMAN deoxyhypusine synthase 166 peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Sulfadoxine(DB01299) GCAGGTTTCCGATCCTGAGAA 0.562000 22 91 0 0 0.001882 0 0 AKAP9 10142 broad.mit.edu 37 7 91630961 91630961 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:91630961C>T ENST00000359028.2 + 9 1991 c.1766C>T c.(1765-1767)tCt>tTt p.S589F AKAP9_ENST00000356239.3_Missense_Mutation_p.S577F|AKAP9_ENST00000358100.2_Missense_Mutation_p.S589F Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 589 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAGATTGTTTCTGCATCTGAA 0.333000 T BRAF papillary thyroid 12 75 0 0 0.001368 0 0 RBM25 58517 broad.mit.edu 37 14 73554750 73554750 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:73554750C>T ENST00000261973.7 + 6 709 c.424C>T c.(424-426)Cgt>Tgt p.R142C RBM25_ENST00000540173.1_Missense_Mutation_p.R142C|RBM25_ENST00000525321.1_Missense_Mutation_p.R142C|RBM25_ENST00000527432.1_Missense_Mutation_p.R142C|RBM25_ENST00000526754.1_Missense_Mutation_p.R142C NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 142 RRM. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) ATCTACCCTCCGTGCACTCAG 0.383000 7 43 0 0 0.001984 0 0 ABCC8 6833 broad.mit.edu 37 11 17438482 17438482 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:17438482G>A ENST00000302539.4 - 17 2378 c.2253C>T c.(2251-2253)gaC>gaT p.D751D ABCC8_ENST00000389817.3_Silent_p.D750D NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 750 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGTACCTGGGGTCCTCTCCTA 0.562000 53 280 0 0 0.003610 0 0 IQCH 64799 broad.mit.edu 37 15 67665734 67665734 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:67665734G>A ENST00000335894.4 + 10 1401 c.1335G>A c.(1333-1335)agG>agA p.R445R IQCH_ENST00000546225.1_Silent_p.R193R|IQCH_ENST00000360277.4_Silent_p.R197R|IQCH_ENST00000358767.3_Silent_p.R272R NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 445 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) ATCGCATCAGGACCTCCAGGA 0.433000 12 49 0 0 0.003163 0 0 PCSK2 5126 broad.mit.edu 37 20 17434548 17434548 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:17434548C>T ENST00000262545.2 + 9 1362 c.1047C>T c.(1045-1047)tcC>tcT p.S349S PCSK2_ENST00000536609.1_Silent_p.S314S|PCSK2_ENST00000377899.1_Silent_p.S330S NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 349 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTGCTCTTCCACCTTGGCTT 0.597000 7 87 0 0 0.001984 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726145 168726145 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:168726145G>A ENST00000305861.1 + 2 947 c.596G>A c.(595-597)cGa>cAa p.R199Q AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R199Q NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 199 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 ACCAAGCCACGAAGAAGGTAT 0.403000 6 47 0 0 0.001984 0 0 PCLO 27445 broad.mit.edu 37 7 82544905 82544905 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:82544905G>A ENST00000423517.2 - 7 12734 c.12397C>T c.(12397-12399)Cgt>Tgt p.R4133C PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4064 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCCCTCTACGAAATTCCTGT 0.408000 13 61 0 0 0.001855 0 0 WHSC1 7468 broad.mit.edu 37 4 1920068 1920068 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:1920068C>T ENST00000503128.1 + 5 1335 c.1128C>T c.(1126-1128)tcC>tcT p.S376S WHSC1_ENST00000508803.1_Silent_p.S376S|WHSC1_ENST00000382892.2_Silent_p.S376S|WHSC1_ENST00000514045.1_Silent_p.S376S|WHSC1_ENST00000382895.3_Silent_p.S376S|WHSC1_ENST00000382891.5_Silent_p.S376S|WHSC1_ENST00000398261.1_Silent_p.S376S|WHSC1_ENST00000420906.2_Silent_p.S376S O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 376 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TGGCAGAATCCTCAGGAGTCA 0.517000 T IGH@ MM 6 43 0 0 0.003080 0 0 OR6K2 81448 broad.mit.edu 37 1 158669934 158669934 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:158669934G>A ENST00000359610.2 - 1 552 c.509C>T c.(508-510)tCg>tTg p.S170L NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 170 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) AAGGTGATTCGAACCACAAAA 0.483000 12 73 0 0 0.001855 0 0 PTPRT 11122 broad.mit.edu 37 20 40980844 40980844 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:40980844C>T ENST00000373198.3 - 10 1877 c.1642G>A c.(1642-1644)Gaa>Aaa p.E548K PTPRT_ENST00000356100.2_Missense_Mutation_p.E548K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E548K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E548K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 548 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGTGGGTTTCATTCCGGAGC 0.572000 18 154 0 0 0.006122 0 0 PXDNL 137902 broad.mit.edu 37 8 52252213 52252213 + Nonsense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:52252213G>A ENST00000356297.4 - 21 4217 c.4117C>T c.(4117-4119)Cag>Tag p.Q1373* PXDNL_ENST00000543296.1_Intron NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1373 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATGGTTTCCTGAATTTCCGCT 0.378000 9 90 0 0 0.006214 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820500 35820500 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:35820500G>A ENST00000399989.1 + 2 466 c.187G>A c.(187-189)Gag>Aag p.E63K MAGEB16_ENST00000399985.1_Missense_Mutation_p.E63K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.E95K|MAGEB16_ENST00000399988.1_Missense_Mutation_p.E63K|MAGEB16_ENST00000399987.1_Missense_Mutation_p.E63K NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 63 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GAGTCCTCTTGAGGTTCCTCA 0.527000 4 11 0 0 0.000248 0 0 ZNF300 91975 broad.mit.edu 37 5 150278038 150278038 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:150278038G>A ENST00000427179.1 - 4 320 c.94C>T c.(94-96)Ctg>Ttg p.L32L ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000394226.2_Silent_p.L32L|ZNF300_ENST00000446148.2_Silent_p.L48L|ZNF300_ENST00000274599.5_Silent_p.L32L Q96RE9 ZN300_HUMAN zinc finger protein 300 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCCTGTACAGGGTCCTCTGA 0.488000 22 76 0 0 0.002299 0 0 DNAH5 1767 broad.mit.edu 37 5 13901591 13901591 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:13901591T>C ENST00000265104.4 - 14 1926 c.1822A>G c.(1822-1824)Aca>Gca p.T608A NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 608 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) TTCTGCTTTGTATACAGCTTT 0.423000 Kartagener syndrome 5 33 0 0 0.001168 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661363 22661363 + RNA SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr22:22661363G>A ENST00000426066.1 + 0 360 NR_027293.1 GGGCAACAGCGAGGGAAATGT 0.502000 5 42 0 0 0.000602 0 0 VN1R2 317701 broad.mit.edu 37 19 53761968 53761968 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:53761968C>T ENST00000341702.3 + 1 424 c.340C>T c.(340-342)Ctt>Ttt p.L114F NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 114 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TTATATGTTCCTTTACTTTAG 0.438000 6 30 0 0 0.001168 0 0 UPF3A 65110 broad.mit.edu 37 13 115051788 115051788 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:115051788C>T ENST00000375299.3 + 4 489 c.433C>T c.(433-435)Cct>Tct p.P145S UPF3A_ENST00000351487.5_Intron NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 145 mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) CCTAGAATATCCTGCAGTGGT 0.393000 8 68 0 0 0.003080 0 0 ASH1L 55870 broad.mit.edu 37 1 155449530 155449530 + Missense_Mutation SNP G G C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:155449530G>C ENST00000368346.3 - 3 3770 c.3131C>G c.(3130-3132)aCc>aGc p.T1044S ASH1L_ENST00000392403.3_Missense_Mutation_p.T1044S Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1044 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TATATAAATGGTTCCTTTCTT 0.403000 32 57 0 0 0.002445 0 0 ANXA2 302 broad.mit.edu 37 15 60653146 60653146 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:60653146G>A ENST00000396024.3 - 6 510 c.351C>T c.(349-351)tcC>tcT p.S117S ANXA2_ENST00000332680.4_Silent_p.S135S|ANXA2_ENST00000451270.2_Silent_p.S117S|ANXA2_ENST00000421017.2_Silent_p.S117S NM_001136015.2 NP_001129487.1 P07355 ANXA2_HUMAN annexin A2 117 angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) TTACCTTCATGGAAGCTTTTA 0.413000 7 49 0 0 0.003080 0 0 AP4E1 23431 broad.mit.edu 37 15 51293323 51293323 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:51293323C>T ENST00000261842.5 + 20 3302 c.3196C>T c.(3196-3198)Cct>Tct p.P1066S AP4E1_ENST00000560508.1_Missense_Mutation_p.P991S|AP4E1_ENST00000561397.1_3'UTR NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 1066 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) AGCTGCACTTCCTTCTGCACT 0.353000 11 120 0 0 0.000978 0 0 ATP2B2 491 broad.mit.edu 37 3 10452305 10452305 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:10452305C>T ENST00000397077.1 - 5 969 c.394G>A c.(394-396)Gaa>Aaa p.E132K ATP2B2_ENST00000343816.4_Missense_Mutation_p.E132K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E132K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E132K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E132K Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 132 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ATCTTACCTTCGTTGCCCTCG 0.647000 18 123 0 0 0.002780 0 0 NUTM2G 441457 broad.mit.edu 37 9 99700263 99700263 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:99700263G>A ENST00000354649.3 + 6 2135 c.1420G>A c.(1420-1422)Gaa>Aaa p.E474K HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.E474K NM_001045477.2 NP_001038942.1 NUT family member 2G GGAGCAGGAGGAAGGACTCAC 0.607000 23 138 0 0 0.004656 0 0 MYCBP2 23077 broad.mit.edu 37 13 77852997 77852997 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:77852997C>T ENST00000407578.2 - 4 910 c.644G>A c.(643-645)cGa>cAa p.R215Q MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R177Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R177Q NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATGAGAAAATCGTGTCTCTTT 0.438000 7 49 0 0 0.006214 0 0 WDR17 116966 broad.mit.edu 37 4 177056427 177056427 + Splice_Site SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:177056427G>A ENST00000393643.2 + 8 1519 c.1267_splice c.e8+1 p.G423_splice WDR17_ENST00000507824.2_Splice_Site_p.G430_splice|WDR17_ENST00000280190.4_Splice_Site_p.G447_splice|WDR17_ENST00000508596.1_Splice_Site_p.G423_splice NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 447 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTGGGCTCCAGGTAAGAGATA 0.333000 5 68 0 0 0.001168 0 0 CES1 1066 broad.mit.edu 37 16 55857517 55857517 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:55857517C>T ENST00000422046.2 - 4 762 c.481G>A c.(481-483)Gaa>Aaa p.E161K CES1_ENST00000361503.4_Missense_Mutation_p.E161K|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.E162K P23141 EST1_HUMAN carboxylesterase 1 161 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) ACCACGTTTTCATGGGCAGCA 0.567000 15 66 0 0 0.003163 0 0 STK31 56164 broad.mit.edu 37 7 23830462 23830462 + Missense_Mutation SNP A A G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:23830462A>G ENST00000354639.3 + 22 3052 c.2588A>G c.(2587-2589)aAc>aGc p.N863S STK31_ENST00000355870.3_Missense_Mutation_p.N886S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.N886S|STK31_ENST00000428484.1_Missense_Mutation_p.N863S NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 886 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 GCCTCGGTGAACATGATGGTT 0.393000 7 37 0 0 0.003080 0 0 AGAP1 116987 broad.mit.edu 37 2 236792005 236792005 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:236792005G>A ENST00000409538.1 + 10 2358 c.1862G>A c.(1861-1863)cGa>cAa p.R621Q AGAP1_ENST00000336665.5_Missense_Mutation_p.R356Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R195Q|AGAP1_ENST00000304032.7_Missense_Mutation_p.R356Q Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 356 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding p.R356Q(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CTGTTGAAGCGAAGTGGCAAA 0.388000 21 92 0 0 0.002299 0 0 C7orf55-LUC7L2 100996928 broad.mit.edu 37 7 139092034 139092034 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:139092034C>T ENST00000354926.4 + 6 979 c.625C>T c.(625-627)Cat>Tat p.H209Y LUC7L2_ENST00000541515.3_Missense_Mutation_p.H275Y|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.H206Y|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.H208Y NM_016019.3 NP_057103.2 ACTGGCTGATCATTTTGGGGG 0.398000 11 57 0 0 0.001855 0 0 EVPL 2125 broad.mit.edu 37 17 74006381 74006381 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:74006381C>T ENST00000301607.3 - 22 3158 c.2905G>A c.(2905-2907)Gag>Aag p.E969K EVPL_ENST00000586740.1_Missense_Mutation_p.E991K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 969 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 AGGCTGCCCTCCAGCTGGGGG 0.672000 11 39 0 0 0.008291 0 0 PROKR2 128674 broad.mit.edu 37 20 5283028 5283028 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:5283028C>T ENST00000546004.1 - 3 1059 c.813G>A c.(811-813)agG>agA p.R271R PROKR2_ENST00000217270.3_Silent_p.R271R Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 271 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GGACCGTCTTCCTGCGGCAGC 0.597000 HNSCC(71;0.22) 6 69 0 0 0.001168 0 0 PDE4C 5143 broad.mit.edu 37 19 18324191 18324191 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:18324191G>A ENST00000355502.3 - 17 2466 c.1595C>T c.(1594-1596)tCc>tTc p.S532F PDE4C_ENST00000594465.2_Missense_Mutation_p.S532F|PDE4C_ENST00000447275.2_Missense_Mutation_p.S426F|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.S301F|PDE4C_ENST00000594617.2_Missense_Mutation_p.S532F|PDE4C_ENST00000262805.11_Missense_Mutation_p.S500F Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 532 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GATTCGGTCGGAATAGTTGTC 0.433000 6 24 0 0 0.001984 0 0 CNTN5 53942 broad.mit.edu 37 11 99932099 99932099 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:99932099C>T ENST00000524871.1 + 10 1426 c.1136C>T c.(1135-1137)tCc>tTc p.S379F CNTN5_ENST00000418526.2_Missense_Mutation_p.S305F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S379F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S379F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S379F NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 379 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGAAAAAATTCCTTTCGTGGA 0.408000 5 45 0 0 0.001168 0 0 THSD7B 80731 broad.mit.edu 37 2 137917931 137917931 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:137917931G>A ENST00000409968.1 + 6 1696 c.1518G>A c.(1516-1518)ggG>ggA p.G506G THSD7B_ENST00000272643.3_Silent_p.G506G|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Silent_p.G475G|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATCCTCAGGGGAAAAAAGGTG 0.468000 14 31 0 0 0.002450 0 0 OSBPL6 114880 broad.mit.edu 37 2 179255833 179255833 + Nonsense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:179255833C>T ENST00000190611.4 + 22 2711 c.2335C>T c.(2335-2337)Cag>Tag p.Q779* OSBPL6_ENST00000409631.1_Nonsense_Mutation_p.Q743*|OSBPL6_ENST00000409045.3_Nonsense_Mutation_p.Q748*|OSBPL6_ENST00000392505.2_Nonsense_Mutation_p.Q804*|OSBPL6_ENST00000359685.3_Nonsense_Mutation_p.Q743*|OSBPL6_ENST00000315022.2_Nonsense_Mutation_p.Q783* NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 779 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GAATGAAGTCCAGGGGGTGGT 0.458000 19 76 0 0 0.008871 0 0 THSD7B 80731 broad.mit.edu 37 2 138373853 138373853 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:138373853G>A ENST00000409968.1 + 18 3710 c.3532G>A c.(3532-3534)Gaa>Aaa p.E1178K THSD7B_ENST00000272643.3_Missense_Mutation_p.E1181K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1150K|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTCCTGAATGAAAATTGCTT 0.453000 22 166 0 0 0.002780 0 0 OR5M1 390168 broad.mit.edu 37 11 56380880 56380880 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:56380880C>T ENST00000526538.1 - 1 98 c.99G>A c.(97-99)gcG>gcA p.A33A NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TTAGGTAGATCGCAAGGAATA 0.493000 14 105 0 0 0.001855 0 0 NUP210L 91181 broad.mit.edu 37 1 154026824 154026824 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:154026824C>T ENST00000368559.3 - 25 3434 c.3363G>A c.(3361-3363)caG>caA p.Q1121Q NUP210L_ENST00000271854.3_Silent_p.Q1121Q|NUP210L_ENST00000368553.1_Silent_p.Q54Q NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1121 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAGCCACGGTCTGATTACTGA 0.473000 36 63 0 0 0.006230 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543775 141543775 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:141543775G>A ENST00000442267.2 - 21 3449 c.3375C>T c.(3373-3375)tcC>tcT p.S1125S NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1125 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GTCCTCCAAGGGAGTGTTCCT 0.642000 15 78 0 0 0.003163 0 0 SEMA3G 56920 broad.mit.edu 37 3 52472117 52472117 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:52472117C>T ENST00000231721.2 - 14 1607 c.1608G>A c.(1606-1608)cgG>cgA p.R536R NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 536 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) AGTATGGGTCCCGGGCCAGGC 0.657000 8 30 0 0 0.004482 0 0 TPSD1 23430 broad.mit.edu 37 16 1308203 1308203 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:1308203G>A ENST00000211076.3 + 4 812 c.664G>A c.(664-666)Gaa>Aaa p.E222K TPSD1_ENST00000397534.2_Missense_Mutation_p.E215K NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 222 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) TGCGGGGAGCGAAAATCACGA 0.632000 5 27 0 0 0.001168 0 0 CCDC171 203238 broad.mit.edu 37 9 15777607 15777607 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:15777607C>T ENST00000380701.3 + 19 3009 c.2681C>T c.(2680-2682)tCc>tTc p.S894F CCDC171_ENST00000297641.3_Missense_Mutation_p.S894F NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 894 GATCCAAATTCCAGAATTTGT 0.323000 4 33 0 0 0.000248 0 0 SKAP2 8935 broad.mit.edu 37 7 26779529 26779529 + Missense_Mutation SNP C C A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:26779529C>A ENST00000345317.2 - 5 675 c.362G>T c.(361-363)gGc>gTc p.G121V SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 121 PH. B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 TTCAAGGTAGCCAGCCTTTAG 0.373000 6 28 0.000157383 0.000244042 0.003080 1 0 TRAV7 28686 broad.mit.edu 37 14 22251445 22251445 + RNA SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:22251445G>A ENST00000390429.3 + 0 62 GGGGCAAATGGAGAAAACCAG 0.408000 4 20 0 0 0.000248 0 0 FAM92B 339145 broad.mit.edu 37 16 85141502 85141502 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:85141502C>T ENST00000539556.1 - 4 531 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_198491.1 NP_940893.1 Q6ZTR7 FA92B_HUMAN family with sequence similarity 92, member B 126 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 16 TCCAGTTTTTCCAGTTGTTTG 0.517000 19 110 0 0 0.008871 0 0 C18orf8 29919 broad.mit.edu 37 18 21107779 21107779 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr18:21107779G>A ENST00000269221.3 + 14 1320 c.1210G>A c.(1210-1212)Gca>Aca p.A404T C18orf8_ENST00000590868.1_Missense_Mutation_p.A356T NM_013326.3 NP_037458.3 Q96DM3 MIC1_HUMAN chromosome 18 open reading frame 8 404 endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 21 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) GTCAGACAGAGCATCGCTGCC 0.433000 9 56 0 0 0.000978 0 0 C20orf194 25943 broad.mit.edu 37 20 3303332 3303332 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:3303332G>A ENST00000252032.9 - 15 1344 c.1277C>T c.(1276-1278)aCt>aTt p.T426I C20orf194_ENST00000453730.2_Missense_Mutation_p.T164I NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 426 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TATATGAAAAGTCATCTTGGA 0.443000 149 218 0 0 0.003610 0 0 CLVS2 134829 broad.mit.edu 37 6 123369870 123369870 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:123369870G>A ENST00000275162.4 + 4 2003 c.668G>A c.(667-669)cGg>cAg p.R223Q CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 223 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 GAGAAAACTCGGAAAAGGGTA 0.378000 17 107 0 0 0.004007 0 0 TRPM6 140803 broad.mit.edu 37 9 77343253 77343253 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:77343253C>T ENST00000451710.3 - 37 6086 c.5849G>A c.(5848-5850)gGa>gAa p.G1950E TRPM6_ENST00000376871.3_Missense_Mutation_p.G783E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1941E|TRPM6_ENST00000376872.3_Missense_Mutation_p.G901E|TRPM6_ENST00000449912.2_Missense_Mutation_p.G1941E|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1946E Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1946 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AAACACCATTCCTCTTGATCT 0.428000 6 38 0 0 0.003080 0 0 TUBA3D 113457 broad.mit.edu 37 2 132238230 132238230 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:132238230G>A ENST00000321253.6 + 4 1071 c.964G>A c.(964-966)Gac>Aac p.D322N NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 322 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GTACAGGGGGGACGTGGTCCC 0.567000 23 95 0 0 0.002299 0 0 ZNF676 163223 broad.mit.edu 37 19 22364254 22364254 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:22364254C>T ENST00000397121.2 - 3 582 c.265G>A c.(265-267)Gat>Aat p.D89N NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D89Y(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTACACTCATCCACATTGGTA 0.328000 6 76 0 0 0.001984 0 0 TRPC5 7224 broad.mit.edu 37 X 111095588 111095588 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:111095588C>T ENST00000262839.2 - 5 2233 c.1315G>A c.(1315-1317)Gat>Aat p.D439N NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 439 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ATTGCAAAATCCATCAGGTTC 0.423000 10 29 0 0 0.006214 0 0 OR10H1 26539 broad.mit.edu 37 19 15918054 15918054 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:15918054C>T ENST00000334920.2 - 1 882 c.794G>A c.(793-795)aGt>aAt p.S265N NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 AGACTGGGGACTTTTGGGCTT 0.562000 11 51 0 0 0.008291 0 0 ATG2B 55102 broad.mit.edu 37 14 96756092 96756092 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:96756092G>A ENST00000359933.4 - 41 6800 c.5907C>T c.(5905-5907)atC>atT p.I1969I NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1969 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TCTTGGGCTCGATAGAAAGGG 0.478000 15 60 0 0 0.004990 0 0 OR6C1 390321 broad.mit.edu 37 12 55714515 55714515 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:55714515C>T ENST00000379668.2 + 1 170 c.132C>T c.(130-132)atC>atT p.I44I NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I44I(1) endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TGACCCTTATCACAATTACCC 0.433000 9 35 0 0 0.006214 0 0 C2 717 broad.mit.edu 37 6 31902153 31902153 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:31902153G>A ENST00000418949.2 + 6 976 c.926G>A c.(925-927)aGa>aAa p.R309K C2_ENST00000299367.5_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Intron complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) CCCCTCCTCAGAACCCCACTC 0.483000 13 65 0 0 0.001368 0 0 IL5 3567 broad.mit.edu 37 5 131877805 131877805 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:131877805C>T ENST00000231454.1 - 3 251 c.208G>A c.(208-210)Gga>Aga p.G70R NM_000879.2 NP_000870.1 P05113 IL5_HUMAN interleukin 5 (colony-stimulating factor, eosinophil) 70 immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly extracellular space cytokine activity|growth factor activity|interleukin-5 receptor binding endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Pranlukast(DB01411) GTGCCTATTCCCTGAAAGATT 0.363000 4 52 0 0 0.000248 0 0 SLC6A11 6538 broad.mit.edu 37 3 10916718 10916718 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:10916718G>A ENST00000254488.2 + 6 895 c.829G>A c.(829-831)Ggg>Agg p.G277R NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 277 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) CACGTTGCCCGGGGCCTCAGA 0.562000 20 124 0 0 0.001882 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463764 25463764 + RNA SNP G G T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:25463764G>T ENST00000424208.1 + 0 2994 SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA NR_003305.1 GCCCTGGGTTGGGTCAGTGAT 0.537000 30 207 1.13719e-10 1.78235e-10 0.008361 1 0 PLCB4 5332 broad.mit.edu 37 20 9391708 9391708 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:9391708G>A ENST00000378501.2 + 21 2003 c.1988G>A c.(1987-1989)gGa>gAa p.G663E PLCB4_ENST00000414679.2_Missense_Mutation_p.G675E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G663E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G663E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.G663E|PLCB4_ENST00000378473.3_Missense_Mutation_p.G675E NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 663 PI-PLC Y-box. 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 TTGAATCAGGGAAAATTTGAG 0.368000 5 103 0 0 0.001984 0 0 IGFBPL1 347252 broad.mit.edu 37 9 38413254 38413254 + Missense_Mutation SNP C C G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:38413254C>G ENST00000377694.1 - 3 689 c.667G>C c.(667-669)Gag>Cag p.E223Q NM_001007563.1 NP_001007564.1 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 1 223 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) GCCGTGGCCTCATGGTCAGAA 0.478000 11 46 0 0 0.008291 0 0 SLAIN1 122060 broad.mit.edu 37 13 78337309 78337309 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:78337309C>T ENST00000466548.1 + 8 1687 c.1661C>T c.(1660-1662)tCa>tTa p.S554L SLAIN1_ENST00000488699.1_Missense_Mutation_p.S412L|SLAIN1_ENST00000418532.1_Missense_Mutation_p.S335L|SLAIN1_ENST00000358679.3_Missense_Mutation_p.S291L|SLAIN1_ENST00000314070.5_Missense_Mutation_p.S177L|SLAIN1_ENST00000267219.8_Missense_Mutation_p.S335L|SLAIN1_ENST00000351546.3_Missense_Mutation_p.S291L NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 554 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) CCTCTGTCTTCACTCAGCACT 0.393000 8 58 0 0 0.004482 0 0 TRBV6-6 28601 broad.mit.edu 37 7 142162218 142162218 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:142162218C>T ENST00000390371.3 - 0 100 CACCAGCATTCACTGGACCTG 0.532000 10 64 0 0 0.006214 0 0 TECTA 7007 broad.mit.edu 37 11 120989022 120989022 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:120989022C>T ENST00000392793.1 + 7 1069 c.798C>T c.(796-798)ttC>ttT p.F266F TECTA_ENST00000264037.2_Silent_p.F266F O75443 TECTA_HUMAN tectorin alpha 266 VWFC. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CAGGACAATTCCTTCGGCGAG 0.473000 6 44 0 0 0.001984 0 0 COL18A1 80781 broad.mit.edu 37 21 46900420 46900420 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr21:46900420C>T ENST00000359759.4 + 11 2704 c.2683C>T c.(2683-2685)Ctg>Ttg p.L895L COL18A1_ENST00000400337.2_Silent_p.L480L|COL18A1_ENST00000355480.5_Silent_p.L660L P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 895 Nonhelical region 3 (NC3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CGGGGGCGATCTGGAGGCCCT 0.632000 16 62 0 0 0.006122 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 7 33 0 0 0.001984 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430903 37430903 + Missense_Mutation SNP G G A rs77379875 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:37430903G>A ENST00000374660.1 + 7 1009 c.910G>A c.(910-912)Gaa>Aaa p.E304K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E304K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E304K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 360 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 AACACCTAGGGAAATTACGAG 0.443000 7 52 0 0 0.001984 0 0 C4orf22 255119 broad.mit.edu 37 4 81791270 81791270 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:81791270C>T ENST00000358105.3 + 4 506 c.457C>T c.(457-459)Cca>Tca p.P153S C4orf22_ENST00000508675.1_Missense_Mutation_p.P170S NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 153 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 AAGACTTCTTCCAAGGCCTAC 0.373000 12 81 0 0 0.001368 0 0 GPR113 165082 broad.mit.edu 37 2 26534301 26534301 + Silent SNP C C T rs139487408 byFrequency TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:26534301C>T ENST00000333478.6 - 8 2280 c.1698G>A c.(1696-1698)ccG>ccA p.P566P GPR113_ENST00000421160.2_Silent_p.P696P|GPR113_ENST00000541401.1_Silent_p.P368P|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Silent_p.P765P NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 765 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGGTTCTTCCGGAACAGTGT 0.627000 17 87 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179654825 179654825 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:179654825C>T ENST00000589042.1 - 12 2042 c.1818G>A c.(1816-1818)agG>agA p.R606R TTN_ENST00000359218.5_Silent_p.R560R|TTN_ENST00000342175.6_Silent_p.R560R|TTN_ENST00000360870.5_Silent_p.R606R|TTN_ENST00000342992.6_Silent_p.R606R|TTN_ENST00000591111.1_Silent_p.R606R|TTN_ENST00000460472.2_Silent_p.R560R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 606 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) CAACTGTTTTCCTAGTTTCCT 0.313000 12 49 0 0 0.001368 0 0 CXCR1 3577 broad.mit.edu 37 2 219029397 219029397 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:219029397G>A ENST00000295683.2 - 2 658 c.538C>T c.(538-540)Cca>Tca p.P180S NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 180 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GAATTGTTTGGATGGTAAGCC 0.512000 9 34 0 0 0.006214 0 0 CHD8 57680 broad.mit.edu 37 14 21876981 21876981 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:21876981G>A ENST00000399982.2 - 11 2432 c.2368C>T c.(2368-2370)Cgt>Tgt p.R790C CHD8_ENST00000557364.1_Missense_Mutation_p.R790C|CHD8_ENST00000430710.3_Missense_Mutation_p.R511C|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 790 Chromo 2. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GCCTGCGGACGATTCTAAAAA 0.368000 4 14 0 0 0.000602 0 0 LMX1A 4009 broad.mit.edu 37 1 165218847 165218847 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:165218847G>A ENST00000342310.3 - 4 676 c.294C>T c.(292-294)ttC>ttT p.F98F LMX1A_ENST00000294816.2_Silent_p.F98F|LMX1A_ENST00000367893.4_Silent_p.F98F NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 98 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CGATGGCCTCGAAGCAGCCCC 0.542000 7 17 0 0 0.003080 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610239 47610239 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:47610239C>T ENST00000371891.3 + 8 946 c.915C>T c.(913-915)atC>atT p.I305I CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Silent_p.I305I|CYP4A22_ENST00000485117.1_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 305 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATGGGAGCATCTTGTCAGACA 0.542000 5 123 0 0 0.003080 0 0 HTR3D 200909 broad.mit.edu 37 3 183756725 183756725 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:183756725T>C ENST00000382489.3 + 8 1327 c.1327T>C c.(1327-1329)Tcc>Ccc p.S443P HTR3D_ENST00000428798.2_Missense_Mutation_p.S393P|HTR3D_ENST00000334128.2_Missense_Mutation_p.S268P|HTR3D_ENST00000453435.1_Missense_Mutation_p.S222P NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 443 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CTTCATGGCCTCCTCCATCAT 0.572000 7 102 0 0 0.006214 0 0 BZW2 28969 broad.mit.edu 37 7 16736583 16736583 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:16736583C>T ENST00000433922.2 + 9 1044 c.866C>T c.(865-867)cCa>cTa p.P289L BZW2_ENST00000258761.3_Missense_Mutation_p.P289L|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000407633.1_Missense_Mutation_p.P95L|BZW2_ENST00000405202.1_Missense_Mutation_p.P213L NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 289 W2. cell differentiation|nervous system development|RNA metabolic process protein binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) AATGATCTTCCAGAAACAGCA 0.453000 6 56 0 0 0.001984 0 0 SLC39A8 64116 broad.mit.edu 37 4 103188710 103188710 + Silent SNP G G A rs143526887 byFrequency TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:103188710G>A ENST00000424970.2 - 8 1485 c.1170C>T c.(1168-1170)ttC>ttT p.F390F SLC39A8_ENST00000356736.4_Silent_p.F390F|SLC39A8_ENST00000394833.2_Silent_p.F390F NM_001135147.1 NP_001128619.1 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), member 8 390 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) TATTTGGAGCGAAATTGTTGC 0.388000 8 35 0 0 0.004482 0 0 FAT3 120114 broad.mit.edu 37 11 92087123 92087123 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:92087123C>T ENST00000298047.6 + 1 1862 c.1845C>T c.(1843-1845)atC>atT p.I615I FAT3_ENST00000409404.2_Silent_p.I615I|FAT3_ENST00000541502.1_Silent_p.I615I|FAT3_ENST00000525166.1_Silent_p.I465I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 615 Cadherin 6. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTACAAAATCATTTCTGGAA 0.363000 TCGA Ovarian(4;0.039) 62 413 0 0 0.003610 0 0 ZNF142 7701 broad.mit.edu 37 2 219508458 219508458 + Silent SNP T T A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:219508458T>A ENST00000411696.2 - 7 3560 c.2781A>T c.(2779-2781)ccA>ccT p.P927P ZNF142_ENST00000449707.1_Silent_p.P927P P52746 ZN142_HUMAN zinc finger protein 142 927 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GTGATGCAGGTGGGGGCTTCC 0.552000 27 194 0 0 0.004656 0 0 C8A 731 broad.mit.edu 37 1 57378168 57378168 + Silent SNP G G A rs148316319 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:57378168G>A ENST00000361249.3 + 10 1569 c.1473G>A c.(1471-1473)ctG>ctA p.L491L NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 491 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 ACCAGTATCTGATGGAATTCA 0.637000 21 77 0 0 0.002780 0 0 OR51L1 119682 broad.mit.edu 37 11 5020909 5020909 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:5020909C>T ENST00000321543.1 + 1 697 c.697C>T c.(697-699)Cgt>Tgt p.R233C NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TATTGCATCTCGTGAAGAGCA 0.418000 10 53 0 0 0.008291 0 0 MOGS 7841 broad.mit.edu 37 2 74689980 74689980 + Missense_Mutation SNP A A C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:74689980A>C ENST00000233616.4 - 4 1098 c.936T>G c.(934-936)agT>agG p.S312R MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.S206R NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 312 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GCCCTTGCCCACTTGGACCTC 0.572000 26 168 0 0 0.005443 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171399 39171399 + Nonsense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:39171399G>A ENST00000297668.6 - 8 1373 c.1300C>T c.(1300-1302)Cag>Tag p.Q434* CNTNAP3_ENST00000323947.7_Nonsense_Mutation_p.Q434*|CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.Q346*|CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.Q434*|CNTNAP3_ENST00000377659.1_Nonsense_Mutation_p.Q434* NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 434 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGTCCCGGCTGGAAGAGACTC 0.468000 27 106 0 0 0.004656 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247342 142247342 + RNA SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:142247342T>C ENST00000390361.3 - 0 163 ACCTGAGCTCTACATATTTTC 0.502000 6 50 0 0 0.001984 0 0 CR1 1378 broad.mit.edu 37 1 207791460 207791460 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:207791460G>A ENST00000367049.4 + 42 6934 c.6934G>A c.(6934-6936)Gga>Aga p.G2312R CR1_ENST00000367053.1_Missense_Mutation_p.G1862R|CR1_ENST00000400960.2_Missense_Mutation_p.G1862R|CR1_ENST00000367051.1_Missense_Mutation_p.G1862R|CR1_ENST00000367052.1_Missense_Mutation_p.G1862R NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1862 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTACATTGGAGGACACGTATC 0.458000 13 123 0 0 0.001368 0 0 SRSF9 8683 broad.mit.edu 37 12 120907337 120907337 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:120907337G>A ENST00000229390.3 - 1 259 c.76C>T c.(76-78)Cgc>Tgc p.R26C NM_003769.2 NP_003760.1 Q13242 SRSF9_HUMAN serine/arginine-rich splicing factor 9 26 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|RNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 9 TCCTTCTCGCGCACGTCGGTC 0.701000 4 30 0 0 0.000248 0 0 PRB3 5544 broad.mit.edu 37 12 11420830 11420830 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:11420830C>T ENST00000381842.3 - 0 390 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTCTGGCTTTCCCGGACGAGG 0.632000 29 220 0 0 0.008740 0 0 COL1A1 1277 broad.mit.edu 37 17 48265253 48265253 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:48265253C>T ENST00000225964.5 - 45 3471 c.3353G>A c.(3352-3354)gGt>gAt p.G1118D NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1118 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) GCCAGGGGGACCCTGGAGGCC 0.632000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 10 69 0 0 0.006214 0 0 FNDC3A 22862 broad.mit.edu 37 13 49765474 49765474 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:49765474C>T ENST00000492622.2 + 19 2485 c.2180C>T c.(2179-2181)cCt>cTt p.P727L FNDC3A_ENST00000541916.1_Missense_Mutation_p.P727L|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P671L NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 727 Fibronectin type-III 5. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) AGCCTTCTTCCTGGAAAGACA 0.388000 9 37 0 0 0.004482 0 0 C6 729 broad.mit.edu 37 5 41159246 41159246 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:41159246C>T ENST00000263413.3 - 12 2058 c.1794G>A c.(1792-1794)ggG>ggA p.G598G C6_ENST00000337836.5_Silent_p.G598G NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 598 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CACAGCGTTTCCCTCCTCGTT 0.498000 22 105 0 0 0.001882 0 0 NRK 203447 broad.mit.edu 37 X 105168832 105168832 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:105168832G>A ENST00000428173.2 + 19 3427 c.3124G>A c.(3124-3126)Gga>Aga p.G1042R NRK_ENST00000243300.9_Missense_Mutation_p.G1041R Q7Z2Y5 NRK_HUMAN Nik related kinase 1041 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TGCAGCCATTGGAGATCAGGA 0.512000 HNSCC(51;0.14) 6 21 0 0 0.001984 0 0 ANO2 57101 broad.mit.edu 37 12 5860054 5860054 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:5860054C>T ENST00000546188.1 - 11 1200 c.1129G>A c.(1129-1131)Gga>Aga p.G377R ANO2_ENST00000327087.8_Missense_Mutation_p.G376R|ANO2_ENST00000356134.5_Missense_Mutation_p.G377R Q9NQ90 ANO2_HUMAN anoctamin 2 381 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity 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 ACAATCACTCCAATTACAGAA 0.338000 6 19 0 0 0.001168 0 0 ZNF521 25925 broad.mit.edu 37 18 22807209 22807209 + Nonsense_Mutation SNP C C A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr18:22807209C>A ENST00000361524.3 - 4 821 c.673G>T c.(673-675)Gag>Tag p.E225* ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E225*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E5* NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 225 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGTTCCTCTCATGAACCTGC 0.507000 T PAX5 ALL 9 43 0.000442599 0.000683875 0.006214 1 0 CDH7 1005 broad.mit.edu 37 18 63511048 63511048 + Splice_Site SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr18:63511048G>A ENST00000536984.2 + 7 1676 c.981_splice c.e7-1 p.E328_splice CDH7_ENST00000397968.2_Splice_Site_p.E328_splice|CDH7_ENST00000323011.3_Splice_Site_p.E328_splice Q9ULB5 CADH7_HUMAN cadherin 7, type 2 328 Cadherin 3. 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) TTCTTTACAGGAGCTGGATTT 0.423000 7 37 0 0 0.004482 0 0 FBXO16 157574 broad.mit.edu 37 8 28309982 28309982 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:28309982C>T ENST00000380254.2 - 6 667 c.519G>A c.(517-519)aaG>aaA p.K173K RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Silent_p.K161K|FBXO16_ENST00000517436.1_Intron|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000518734.1_Silent_p.K161K NM_001258211.1|NM_172366.3 NP_001245140.1|NP_758954.1 Q8IX29 FBX16_HUMAN F-box protein 16 173 large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) CAAATCCATCCTTTGGGGGTG 0.443000 11 52 0 0 0.001368 0 0 PRKCB 5579 broad.mit.edu 37 16 24135202 24135202 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:24135202C>T ENST00000303531.7 + 9 1117 c.965C>T c.(964-966)aCc>aTc p.T322I PRKCB_ENST00000321728.7_Missense_Mutation_p.T322I NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 322 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GAAAAGACGACCAACACTGTC 0.478000 20 71 0 0 0.007413 0 0 TRHDE 29953 broad.mit.edu 37 12 73046174 73046174 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:73046174C>T ENST00000261180.4 + 16 2709 c.2613C>T c.(2611-2613)ttC>ttT p.F871F NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 871 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TCTGGGAATTCATATGGATGA 0.388000 14 54 0 0 0.002450 0 0 LRP1B 53353 broad.mit.edu 37 2 141283912 141283912 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:141283912G>A ENST00000389484.3 - 48 8741 c.7770C>T c.(7768-7770)acC>acT p.T2590T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2590 LDL-receptor class A 13. 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) CCGTGGCACAGGTTGAAACTA 0.368000 TSP Lung(27;0.18) 7 42 0 0 0.001984 0 0 ITGB3 3690 broad.mit.edu 37 17 45360790 45360790 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:45360790C>T ENST00000559488.1 + 3 252 c.236C>T c.(235-237)tCc>tTc p.S79F ITGB3_ENST00000560629.1_Silent_p.I67I|ITGB3_ENST00000435993.2_Missense_Mutation_p.S32F|ITGB3_ENST00000571680.1_Missense_Mutation_p.S79F NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 79 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) GCCCCAGAATCCATCGAGTTC 0.582000 11 76 0 0 0.008291 0 0 RGS21 431704 broad.mit.edu 37 1 192335158 192335158 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:192335158G>A ENST00000417209.2 + 5 537 c.363G>A c.(361-363)aaG>aaA p.K121K NM_001039152.3 NP_001034241.1 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 121 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 TCATGGCCAAGGATTCTTTCC 0.378000 31 59 0 0 0.001786 0 0 RBM25 58517 broad.mit.edu 37 14 73554749 73554749 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:73554749C>T ENST00000261973.7 + 6 708 c.423C>T c.(421-423)ctC>ctT p.L141L RBM25_ENST00000540173.1_Silent_p.L141L|RBM25_ENST00000525321.1_Silent_p.L141L|RBM25_ENST00000527432.1_Silent_p.L141L|RBM25_ENST00000526754.1_Silent_p.L141L NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 141 RRM. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding p.L141L(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) AATCTACCCTCCGTGCACTCA 0.383000 7 44 0 0 0.001984 0 0 IRF6 3664 broad.mit.edu 37 1 209964110 209964110 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:209964110C>T ENST00000367021.3 - 7 962 c.790G>A c.(790-792)Gag>Aag p.E264K IRF6_ENST00000542854.1_Missense_Mutation_p.E169K NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 264 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CCAAAGAGCTCCTCCTGGTCA 0.572000 HNSCC(57;0.16) 9 71 0 0 0.006214 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308858 140308858 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:140308858C>T ENST00000253807.2 + 1 2381 c.2381C>T c.(2380-2382)tCc>tTc p.S794F PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794F|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCCAATATCCTGTATTCAG 0.463000 19 62 0 0 0.007413 0 0 FAM13A 10144 broad.mit.edu 37 4 89671660 89671660 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:89671660G>A ENST00000264344.5 - 15 2062 c.1855C>T c.(1855-1857)Cgg>Tgg p.R619W FAM13A_ENST00000508369.1_Missense_Mutation_p.R293W|FAM13A_ENST00000511976.1_Missense_Mutation_p.R205W|FAM13A_ENST00000503556.1_Missense_Mutation_p.R279W|FAM13A_ENST00000395002.2_Missense_Mutation_p.R293W|FAM13A_ENST00000513837.1_Missense_Mutation_p.R265W NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 619 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GCGTAGAACCGAGGAGAGAGC 0.572000 14 79 0 0 0.006122 0 0 ZNF479 90827 broad.mit.edu 37 7 57188025 57188025 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:57188025G>A ENST00000331162.4 - 5 1367 c.1097C>T c.(1096-1098)tCg>tTg p.S366L NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S366L(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CATAAGGTTCGAGGATAAGCT 0.443000 4 25 0 0 0.000248 0 0 DNAH5 1767 broad.mit.edu 37 5 13794105 13794105 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:13794105C>T ENST00000265104.4 - 48 8054 c.7950G>A c.(7948-7950)aaG>aaA p.K2650K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2650 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGTCATCTTCTTTCCCGCAG 0.358000 Kartagener syndrome 11 33 0 0 0.000978 0 0 PABPC4 8761 broad.mit.edu 37 1 40030846 40030846 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:40030846G>A ENST00000372857.3 - 8 1969 c.1177C>T c.(1177-1179)Cct>Tct p.P393S RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.P393S|PABPC4_ENST00000372858.3_Missense_Mutation_p.P393S|PABPC4_ENST00000372862.3_Missense_Mutation_p.P393S NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 393 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCATTGGCAGGAAGTGCTCTC 0.542000 11 42 0 0 0.008291 0 0 RGS7BP 401190 broad.mit.edu 37 5 63871693 63871693 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:63871693C>T ENST00000334025.2 + 3 751 c.425C>T c.(424-426)tCc>tTc p.S142F RGS7BP_ENST00000508162.1_3'UTR NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 142 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane p.S142F(1) breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) ATGCTAAAATCCATATGTCTG 0.428000 7 44 0 0 0.001984 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684345 75684345 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:75684345G>A ENST00000370855.5 - 17 1472 c.1359C>T c.(1357-1359)atC>atT p.I453I SLC44A5_ENST00000535611.1_Silent_p.I323I|SLC44A5_ENST00000370859.3_Silent_p.I453I NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 453 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 GGAAGGTAGGGATGTACTGAT 0.418000 14 47 0 0 0.002450 0 0 ROBO1 6091 broad.mit.edu 37 3 78711157 78711157 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:78711157C>T ENST00000436010.2 - 13 2954 c.1957G>A c.(1957-1959)Gaa>Aaa p.E653K ROBO1_ENST00000464233.1_Missense_Mutation_p.E692K|ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E656K Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 692 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CAGTGCACTTCGATGGAAGAG 0.463000 4 15 0 0 0.000248 0 0 GTPBP4 23560 broad.mit.edu 37 10 1052982 1052982 + Nonsense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:1052982C>T ENST00000360803.4 + 10 1109 c.1027C>T c.(1027-1029)Cga>Tga p.R343* GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Nonsense_Mutation_p.R227*|GTPBP4_ENST00000545048.1_Nonsense_Mutation_p.R296* NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 343 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) TTTGGCTCATCGAGTGGAAAC 0.502000 5 53 0 0 0.001168 0 0 SLC16A1 6566 broad.mit.edu 37 1 113460124 113460124 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:113460124G>A ENST00000538576.1 - 4 1735 c.904C>T c.(904-906)Ctt>Ttt p.L302F SLC16A1_ENST00000433570.4_Missense_Mutation_p.L302F|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L302F NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 302 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) AGAATGGAAAGAAGGAAGGCA 0.423000 5 37 0 0 0.001984 0 0 PTK7 5754 broad.mit.edu 37 6 43098319 43098319 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:43098319C>T ENST00000230419.4 + 5 953 c.732C>T c.(730-732)ttC>ttT p.F244F PTK7_ENST00000352931.2_Silent_p.F244F|PTK7_ENST00000349241.2_Silent_p.F244F|PTK7_ENST00000481273.1_Silent_p.F252F|PTK7_ENST00000345201.2_Silent_p.F244F|PTK7_ENST00000471863.1_Silent_p.F244F NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 244 Ig-like C2-type 3. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGGCCATGTTCCATTGCCAGT 0.592000 4 37 0 0 0.000602 0 0 SCN5A 6331 broad.mit.edu 37 3 38603922 38603922 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:38603922C>T ENST00000413689.1 - 22 4140 c.3947G>A c.(3946-3948)cGa>cAa p.R1316Q SCN5A_ENST00000455624.2_Missense_Mutation_p.R1315Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1316Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1316Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1315Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1315Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1316Q NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1316 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCCCTCAAATCGTGACAGAGC 0.652000 6 20 0 0 0.001984 0 0 PLD5 200150 broad.mit.edu 37 1 242253365 242253365 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:242253365C>T ENST00000442594.2 - 11 1635 c.1126G>A c.(1126-1128)Ggc>Agc p.G376S PLD5_ENST00000427495.1_Missense_Mutation_p.G406S|PLD5_ENST00000536534.1_Missense_Mutation_p.G468S NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 468 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) ATAACAAGGCCCGTGCCAGCA 0.413000 36 47 0 0 0.003755 0 0 INHA 3623 broad.mit.edu 37 2 220437184 220437184 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:220437184C>T ENST00000243786.2 + 1 268 c.88C>T c.(88-90)Ctg>Ttg p.L30L INHA_ENST00000489456.1_Intron NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 30 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) GGAACTTGTTCTGGCCAAGGT 0.667000 OREG0003991 type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 10 0 0 0.001984 0 0 PSAT1 29968 broad.mit.edu 37 9 80921375 80921375 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:80921375C>T ENST00000376588.3 + 5 611 c.543C>T c.(541-543)ttC>ttT p.F181F PSAT1_ENST00000347159.2_Silent_p.F181F NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 181 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) CCTCAAACTTCCTGTCCAAGC 0.463000 49 288 0 0 0.003610 0 0 UBR2 23304 broad.mit.edu 37 6 42633953 42633953 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:42633953C>T ENST00000372899.1 + 34 4109 c.3851C>T c.(3850-3852)cCt>cTt p.P1284L UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.P1284L NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1284 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TTACAGCTCCCTGAAGGGTTC 0.328000 13 58 0 0 0.003163 0 0 GNA14 9630 broad.mit.edu 37 9 80049306 80049306 + Missense_Mutation SNP G G C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:80049306G>C ENST00000341700.6 - 3 955 c.442C>G c.(442-444)Cag>Gag p.Q148E NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 148 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|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 endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 TCCGACAGCTGGTACTCCCTC 0.587000 OREG0019263 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 40 0 0 0.004482 0 0 HOXB7 3217 broad.mit.edu 37 17 46685276 46685276 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:46685276C>T ENST00000239165.7 - 2 680 c.582G>A c.(580-582)aaG>aaA p.K194K HOXB7_ENST00000567101.1_5'UTR NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 194 K -> N (in Ref. 7; AAB19469). nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 TCTTGTTCTCCTTTTTCCACT 0.597000 24 138 0 0 0.005443 0 0 RHBDF1 64285 broad.mit.edu 37 16 112591 112591 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:112591C>T ENST00000262316.6 - 7 1040 c.898G>A c.(898-900)Gac>Aac p.D300N RHBDF1_ENST00000454039.2_Missense_Mutation_p.D300N NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 300 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 endoplasmic reticulum membrane|Golgi 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) CCGGTGAGGTCCGCCTGCTCC 0.647000 26 163 0 0 0.008361 0 0 ASH2L 9070 broad.mit.edu 37 8 37964684 37964684 + Splice_Site SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:37964684C>T ENST00000343823.6 + 3 710 c.401_splice c.e3+1 p.S134_splice ASH2L_ENST00000250635.7_Splice_Site_p.S40_splice|ASH2L_ENST00000428278.2_Splice_Site_p.S40_splice|ASH2L_ENST00000545394.1_Intron|ASH2L_ENST00000521652.1_Splice_Site_p.S40_splice NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 134 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) ATAGATACCTCGTGAGTACTT 0.408000 9 63 0 0 0.008291 0 0 MOGS 7841 broad.mit.edu 37 2 74689979 74689979 + Missense_Mutation SNP C C A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:74689979C>A ENST00000233616.4 - 4 1099 c.937G>T c.(937-939)Ggg>Tgg p.G313W MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.G207W NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 313 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 TGCCCTTGCCCACTTGGACCT 0.567000 26 169 1.17739e-12 1.85535e-12 0.005443 1 0 KCNH1 3756 broad.mit.edu 37 1 210977380 210977380 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:210977380C>T ENST00000367007.4 - 8 1679 c.1510G>A c.(1510-1512)Gga>Aga p.G504R KCNH1_ENST00000271751.4_Missense_Mutation_p.G531R NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 531 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TCACTCAATCCTTTTGGCACC 0.473000 37 54 0 0 0.003271 0 0 REST 5978 broad.mit.edu 37 4 57777040 57777040 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:57777040T>C ENST00000309042.7 + 2 550 c.236T>C c.(235-237)gTt>gCt p.V79A NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 79 Interaction with SIN3A. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) CTGATGCCGGTTGGGGATAAC 0.448000 7 48 0 0 0.003080 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964838 7964838 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:7964838C>T ENST00000539278.1 - 1 3589 c.429G>A c.(427-429)aaG>aaA p.K143K LRRC8E_ENST00000306708.6_Silent_p.S477S TACCCTTCTCCTTGCAGGTCT 0.642000 4 20 0 0 0.000248 0 0 DAB1 1600 broad.mit.edu 37 1 57602246 57602246 + Silent SNP T T A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:57602246T>A ENST00000371236.2 - 4 539 c.276A>T c.(274-276)ggA>ggT p.G92G DAB1_ENST00000371234.4_Silent_p.G92G|DAB1_ENST00000414851.2_Silent_p.G92G|DAB1_ENST00000371231.1_Silent_p.G92G|DAB1_ENST00000420954.2_Silent_p.G92G|DAB1_ENST00000439789.2_Silent_p.G92G|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Silent_p.G92G O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 92 PID. cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TTTTGATTCCTCCAAAGGAGA 0.388000 4 46 0 0 0.000248 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121612657 121612657 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:121612657G>A ENST00000393386.2 + 4 778 c.367G>A c.(367-369)Gca>Aca p.A123T PTPRZ1_ENST00000449182.1_Missense_Mutation_p.A123T NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 123 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GGTGTTTAAAGCAAGCAAGAT 0.368000 15 60 0 0 0.003163 0 0 MECOM 2122 broad.mit.edu 37 3 168834234 168834234 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:168834234G>A ENST00000464456.1 - 7 2062 c.862C>T c.(862-864)Cct>Tct p.P288S MECOM_ENST00000392736.3_Missense_Mutation_p.P288S|MECOM_ENST00000468789.1_Missense_Mutation_p.P288S|MECOM_ENST00000264674.3_Missense_Mutation_p.P353S|MECOM_ENST00000494292.1_Missense_Mutation_p.P476S|MECOM_ENST00000460814.1_Missense_Mutation_p.P288S|MECOM_ENST00000433243.2_Missense_Mutation_p.P289S|MECOM_ENST00000472280.1_Missense_Mutation_p.P289S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AGACCAGCAGGATGCCTATTG 0.493000 8 50 0 0 0.004482 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167893 140167893 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:140167893G>A ENST00000504120.2 + 1 2018 c.2018G>A c.(2017-2019)gGc>gAc p.G673D PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673D|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAGAGCGGCCAGGCGCCA 0.657000 7 47 0 0 0.003080 0 0 PRSS58 136541 broad.mit.edu 37 7 141952060 141952060 + Missense_Mutation SNP T T A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:141952060T>A ENST00000552471.1 - 5 1026 c.707A>T c.(706-708)aAt>aTt p.N236I PRSS58_ENST00000547058.2_Missense_Mutation_p.N236I Q8IYP2 PRS58_HUMAN protease, serine, 58 236 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 TTGGATTACATTTTCAATCCA 0.393000 3 19 0 0 0.000248 0 0 NMNAT2 23057 broad.mit.edu 37 1 183255900 183255900 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:183255900G>A ENST00000287713.6 - 5 679 c.345C>T c.(343-345)tcC>tcT p.S115S NMNAT2_ENST00000294868.4_Silent_p.S110S|NMNAT2_ENST00000473046.1_5'UTR NM_015039.3 NP_055854.1 Q9BZQ4 NMNA2_HUMAN nicotinamide nucleotide adenylyltransferase 2 115 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity p.S115S(1)|p.S115*(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 18 TGTTGACATTGGAGAGGATGC 0.502000 10 73 0 0 0.000978 0 0 TAF2 6873 broad.mit.edu 37 8 120744176 120744176 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:120744176G>A ENST00000378164.2 - 26 3886 c.3588C>T c.(3586-3588)tcC>tcT p.S1196S NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 1196 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGTCTGAAAGGGAAGGAGAAC 0.428000 7 57 0 0 0.001984 0 0 SORD 6652 broad.mit.edu 37 15 45353277 45353277 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:45353277C>T ENST00000267814.9 + 4 458 c.278C>T c.(277-279)gCc>gTc p.A93V SORD_ENST00000558580.1_Missense_Mutation_p.A72V NM_003104.5 NP_003095.2 Q00796 DHSO_HUMAN sorbitol dehydrogenase 93 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(4) 9 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) GATCGTGTTGCCATCGAGCCT 0.532000 15 35 0 0 0.004007 0 0 LAMB3 3914 broad.mit.edu 37 1 209788682 209788682 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:209788682C>T ENST00000391911.1 - 22 3842 c.3453G>A c.(3451-3453)gaG>gaA p.E1151E LAMB3_ENST00000367030.3_Silent_p.E1151E|LAMB3_ENST00000356082.4_Silent_p.E1151E NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1151 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCACACGCTTCTCCAGTCCTG 0.597000 5 93 0 0 0.001984 0 0 DNMT3A 1788 broad.mit.edu 37 2 25463248 25463248 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:25463248G>A ENST00000264709.3 - 19 2582 c.2245C>T c.(2245-2247)Cgc>Tgc p.R749C DNMT3A_ENST00000402667.1_Missense_Mutation_p.R526C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R749C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R560C|DNMT3A_ENST00000474887.1_5'UTR NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 749 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.R749C(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAAGGGGCGATCATCTCCC 0.562000 """Mis, F, N, S""" AML 21 81 0 0 0.003330 0 0 FXYD7 53822 broad.mit.edu 37 19 35639627 35639627 + Splice_Site SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:35639627G>A ENST00000270310.2 + 2 145 c.e2+1 CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000588265.1_Splice_Site|FXYD7_ENST00000586063.1_Splice_Site NM_022006.1 NP_071289.1 P58549 FXYD7_HUMAN FXYD domain containing ion transport regulator 7 integral to membrane ion channel activity NS(1)|endometrium(1)|lung(1) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) TTTTACTATGGTGAGTGTTGG 0.448000 15 101 0 0 0.003163 0 0 PRB4 5545 broad.mit.edu 37 12 11461474 11461474 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:11461474C>T ENST00000279575.1 - 3 476 c.443G>A c.(442-444)gGa>gAa p.G148E PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.G148E NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 211 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in allele M and allele S). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 CTGGTTACCTCCTTGTGGGGG 0.607000 HNSCC(22;0.051) 36 229 0 0 0.004878 0 0 NONO 4841 broad.mit.edu 37 X 70511697 70511697 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:70511697C>T ENST00000276079.8 + 4 428 c.223C>T c.(223-225)Cgt>Tgt p.R75C NONO_ENST00000373841.1_Missense_Mutation_p.R75C|NONO_ENST00000373856.3_Missense_Mutation_p.R75C|NONO_ENST00000535149.1_5'UTR NM_007363.4 NP_031389.3 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 75 DBHS.|RRM 1. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding p.R75S(1) NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) CCAACGAAGCCGTCTTTTTGT 0.418000 T TFE3 papillary renal cancer 6 10 0 0 0.001168 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136302909 136302909 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:136302909G>A ENST00000371929.3 + 13 1920 c.1476G>A c.(1474-1476)gaG>gaA p.E492E ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_Silent_p.E164E|ADAMTS13_ENST00000356589.2_Silent_p.E461E|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Silent_p.E492E NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 492 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) CCATTGGCGAGAGCTTCATCA 0.632000 14 75 0 0 0.001855 0 0 CDX4 1046 broad.mit.edu 37 X 72667171 72667171 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:72667171G>A ENST00000373514.2 + 1 82 c.82G>A c.(82-84)Ggg>Agg p.G28R NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 28 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) CGGCACAGCTGGGACAGGCGG 0.607000 5 16 0 0 0.000602 0 0 CLCA4 22802 broad.mit.edu 37 1 87045870 87045870 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:87045870C>T ENST00000370563.3 + 14 2644 c.2602C>T c.(2602-2604)Cct>Tct p.P868S RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 868 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTTGTTTATCCCTCAAGCAAA 0.348000 10 37 0 0 0.008291 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26084094 26084094 + RNA SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:26084094T>C ENST00000478176.1 - 0 363 NR_003678.1 aaaacataCATTCTTAGAATA 0.299000 4 25 0 0 0.001984 0 0 KCNK10 54207 broad.mit.edu 37 14 88652026 88652026 + Silent SNP C C T rs113347660 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:88652026C>T ENST00000340700.5 - 7 1921 c.1470G>A c.(1468-1470)acG>acA p.T490T KCNK10_ENST00000319231.5_Silent_p.T495T|KCNK10_ENST00000312350.5_Silent_p.T495T NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 490 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 ACATCTTTTCCGTCTCCTCCT 0.502000 13 67 0 0 0.001368 0 0 HSPH1 10808 broad.mit.edu 37 13 31717943 31717943 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:31717943G>A ENST00000320027.5 - 12 2046 c.1702C>T c.(1702-1704)Cca>Tca p.P568S HSPH1_ENST00000445273.2_Missense_Mutation_p.P570S|HSPH1_ENST00000380405.4_Intron|HSPH1_ENST00000429785.2_Missense_Mutation_p.P387S|HSPH1_ENST00000380406.5_Missense_Mutation_p.P527S NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 568 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TCAGCATCTGGGATTTTGTTT 0.408000 12 67 0 0 0.001368 0 0 OR2A25 392138 broad.mit.edu 37 7 143771345 143771345 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:143771345C>T ENST00000408898.2 + 1 71 c.33C>T c.(31-33)ttC>ttT p.F11F NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TCACAGAGTTCCTCCTACTGG 0.478000 13 88 0 0 0.001855 0 0 TSGA10 80705 broad.mit.edu 37 2 99614663 99614663 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:99614663G>A ENST00000393483.3 - 21 2938 c.2094C>T c.(2092-2094)ttC>ttT p.F698F TSGA10_ENST00000539964.1_Silent_p.F698F|TSGA10_ENST00000410001.1_Silent_p.F698F|TSGA10_ENST00000355053.4_Silent_p.F698F NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 698 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TCAGGTGTCAGAAATCTCTGT 0.284000 13 61 0 0 0.001855 0 0 OR51B6 390058 broad.mit.edu 37 11 5373569 5373569 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:5373569C>T ENST00000380219.1 + 1 832 c.832C>T c.(832-834)Cac>Tac p.H278Y HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCTACATCCACTTCCTTTT 0.398000 17 100 0 0 0.007413 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47533324 47533324 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:47533324C>T ENST00000334194.3 + 1 165 c.162C>T c.(160-162)ttC>ttT p.F54F NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 54 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CCCACTGGTTCTATGGCCACA 0.488000 7 85 0 0 0.003080 0 0 LRIG1 26018 broad.mit.edu 37 3 66433732 66433732 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:66433732G>A ENST00000383703.3 - 16 2699 c.2096C>T c.(2095-2097)cCc>cTc p.P699L LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.P722L|SLC25A26_ENST00000536651.1_Intron Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 722 Ig-like C2-type 3. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GGTGATGCGGGGCGGAGGGTT 0.617000 10 73 0 0 0.008291 0 0 PABPN1L 390748 broad.mit.edu 37 16 88932262 88932262 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:88932262C>T ENST00000419291.2 - 2 354 c.343G>A c.(343-345)Gaa>Aaa p.E115K PABPN1L_ENST00000378358.4_Missense_Mutation_p.E115K|PABPN1L_ENST00000411789.2_Missense_Mutation_p.E115K|PABPN1L_ENST00000427766.1_Missense_Mutation_p.E115K NM_001080487.2 NP_001073956.2 A6NDY0 EPAB2_HUMAN poly(A) binding protein, nuclear 1-like (cytoplasmic) 115 cytoplasm nucleotide binding|RNA binding kidney(1) 1 CCCTCCTCTTCCTCGGCCTGT 0.672000 5 16 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179428407 179428407 + Silent SNP A A G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:179428407A>G ENST00000589042.1 - 326 82676 c.82452T>C c.(82450-82452)gaT>gaC p.D27484D TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.D18544D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.D18611D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.D24916D|TTN_ENST00000591111.1_Silent_p.D25843D|TTN_ENST00000460472.2_Silent_p.D18419D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25843 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) CTACCATAGAATCTTTGGTGA 0.493000 12 158 0 0 0.002450 0 0 COL4A4 1286 broad.mit.edu 37 2 227912257 227912257 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:227912257C>T ENST00000396625.3 - 35 3430 c.3223G>A c.(3223-3225)Ggt>Agt p.G1075S COL4A4_ENST00000329662.7_Missense_Mutation_p.G1075S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1075 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCAGGGTCACCTTTGTTTCCT 0.403000 7 34 0 0 0.001984 0 0 CPAMD8 27151 broad.mit.edu 37 19 17049238 17049238 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:17049238C>T ENST00000443236.1 - 23 2984 c.2953G>A c.(2953-2955)Gcg>Acg p.A985T NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 938 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 TAGGTGTACGCCCGGGGGACT 0.617000 5 16 0 0 0.001168 0 0 ZC3H4 23211 broad.mit.edu 37 19 47593230 47593230 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:47593230C>T ENST00000253048.5 - 5 746 c.709G>A c.(709-711)Ggc>Agc p.G237S ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 237 Gly-rich. 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) TCACCTCGGCCGCGGCTGCTG 0.622000 7 34 0 0 0.003080 0 0 C18orf8 29919 broad.mit.edu 37 18 21109178 21109178 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr18:21109178C>T ENST00000269221.3 + 15 1442 c.1332C>T c.(1330-1332)ctC>ctT p.L444L C18orf8_ENST00000590868.1_Silent_p.L396L NM_013326.3 NP_037458.3 Q96DM3 MIC1_HUMAN chromosome 18 open reading frame 8 444 endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 21 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) GCAGCCCGCTCCTCAAGAGGC 0.552000 15 70 0 0 0.004007 0 0 ZNF142 7701 broad.mit.edu 37 2 219508131 219508131 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:219508131G>A ENST00000411696.2 - 7 3887 c.3108C>T c.(3106-3108)tcC>tcT p.S1036S ZNF142_ENST00000449707.1_Silent_p.S1036S P52746 ZN142_HUMAN zinc finger protein 142 1036 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGAGAGCCGGGAACAAAGGA 0.612000 12 65 0 0 0.000978 0 0 PLA2G7 7941 broad.mit.edu 37 6 46675788 46675788 + Missense_Mutation SNP T T G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:46675788T>G ENST00000274793.7 - 10 1176 c.980A>C c.(979-981)aAt>aCt p.N327T PLA2G7_ENST00000537365.1_Missense_Mutation_p.N327T NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 327 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TTTTATGATATTAGCAGGATA 0.338000 7 39 0 0 0.001984 0 0 MAN2B2 23324 broad.mit.edu 37 4 6588815 6588815 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:6588815C>T ENST00000285599.3 + 4 520 c.484C>T c.(484-486)Cta>Tta p.L162L MAN2B2_ENST00000504248.1_Silent_p.L162L NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 162 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 GACGCCCACCCTATTTGCGCT 0.617000 10 38 0 0 0.008291 0 0 TARS2 80222 broad.mit.edu 37 1 150464927 150464927 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:150464927C>T ENST00000369064.3 + 7 770 c.736C>T c.(736-738)Cgg>Tgg p.R246W TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.R246W|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000463555.1_3'UTR NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 246 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CCCCCACCTTCGGCATACTGG 0.512000 19 175 0 0 0.002780 0 0 CARD11 84433 broad.mit.edu 37 7 2983953 2983953 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:2983953C>T ENST00000396946.4 - 5 980 c.577G>A c.(577-579)Gag>Aag p.E193K AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 193 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGACCAGCTCGTCATTGTAG 0.552000 Mis DLBCL 10 86 0 0 0.006214 0 0 SNHG14 104472715 broad.mit.edu 37 15 25448240 25448240 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:25448240C>T ENST00000424208.1 + 0 2086 SNHG14_ENST00000424333.1_RNA NR_003305.1 ACATCAGTGTCCGTCATCCCG 0.622000 4 19 0 0 0.000602 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449164 104449164 + Missense_Mutation SNP C C T rs145326290 by1000genomes TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:104449164C>T ENST00000361820.3 - 2 1618 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 340 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTTGTAATTTCGAAAATCCGC 0.517000 8 47 0 0 0.003080 0 0 CARD9 64170 broad.mit.edu 37 9 139265127 139265127 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:139265127C>T ENST00000371732.5 - 5 819 c.654G>A c.(652-654)atG>atA p.M218I CARD9_ENST00000315908.7_Missense_Mutation_p.M218I|CARD9_ENST00000371734.3_Missense_Mutation_p.M218I NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 218 positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) CCTCGGCCTTCATGAGGCTGT 0.672000 12 54 0 0 0.001855 0 0 ATP10B 23120 broad.mit.edu 37 5 160018075 160018075 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:160018075G>A ENST00000327245.5 - 23 4482 c.3636C>T c.(3634-3636)atC>atT p.I1212I NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1212 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) CCAGGTAAGGGATAAAGAAAC 0.413000 8 72 0 0 0.004482 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 5 174 0 0 0.001168 0 0 MS4A15 219995 broad.mit.edu 37 11 60541405 60541405 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:60541405C>T ENST00000405633.3 + 6 673 c.594C>T c.(592-594)atC>atT p.I198I MS4A15_ENST00000528170.1_Silent_p.I157I|MS4A15_ENST00000337911.4_Silent_p.I105I NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 198 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 GCCAAGCCATCCATGCCCAGG 0.607000 9 50 0 0 0.001368 0 0 KRT6C 286887 broad.mit.edu 37 12 52862871 52862871 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:52862871G>A ENST00000252250.6 - 9 1717 c.1670C>T c.(1669-1671)tCc>tTc p.S557F NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 557 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) CTTCCTGCTGGAGGAGGAGGT 0.607000 16 67 0 0 0.006122 0 0 DMRT1 1761 broad.mit.edu 37 9 847071 847071 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:847071C>T ENST00000382276.3 + 2 615 c.466C>T c.(466-468)Ccg>Tcg p.P156S DMRT1_ENST00000569227.1_5'UTR NM_021951.2 NP_068770.2 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 1 156 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(10)|ovary(1) 13 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) TGGCAGTAACCCGTGCCTCAT 0.607000 12 44 0 0 0.000978 0 0 DGKK 139189 broad.mit.edu 37 X 50111995 50111995 + RNA SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:50111995G>A ENST00000376025.2 - 0 3818 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TCATCTTCACGATGTCTGCGG 0.423000 11 20 0 0 0.000978 0 0 USP26 83844 broad.mit.edu 37 X 132161995 132161995 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:132161995C>T ENST00000511190.1 - 6 723 c.254G>A c.(253-255)gGa>gAa p.G85E USP26_ENST00000406273.1_Missense_Mutation_p.G85E|USP26_ENST00000370832.1_Missense_Mutation_p.G85E NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 85 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GGAGGATAATCCTTCAATAAA 0.373000 11 29 0 0 0.000978 0 0 RASGRP4 115727 broad.mit.edu 37 19 38910555 38910555 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:38910555C>T ENST00000454404.2 - 6 821 c.608G>A c.(607-609)gGg>gAg p.G203E RASGRP4_ENST00000587753.1_Missense_Mutation_p.G203E|RASGRP4_ENST00000293062.9_Missense_Mutation_p.G203E|RASGRP4_ENST00000587738.1_Missense_Mutation_p.G203E|RASGRP4_ENST00000433821.2_Missense_Mutation_p.G203E|RASGRP4_ENST00000426920.2_Missense_Mutation_p.G203E|RASGRP4_ENST00000586305.1_Missense_Mutation_p.G189E NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 203 Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGCCAGCTCCCCCGTCTCCAA 0.642000 3 19 0 0 0.004672 0 0 EPHA8 2046 broad.mit.edu 37 1 22902712 22902712 + Nonsense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:22902712G>A ENST00000166244.3 + 3 234 c.162G>A c.(160-162)tgG>tgA p.W54* EPHA8_ENST00000374644.4_Nonsense_Mutation_p.W54*|EPHA8_ENST00000538803.1_Nonsense_Mutation_p.W54* NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 54 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) GCCCACAGTGGGACTCCATCA 0.567000 10 67 0 0 0.008291 0 0 NALCN 259232 broad.mit.edu 37 13 101714421 101714421 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr13:101714421C>T ENST00000251127.6 - 41 4735 c.4654G>A c.(4654-4656)Gaa>Aaa p.E1552K NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1552 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCCAGGAGTTCCTCCAGCTGC 0.562000 9 42 0 0 0.008291 0 0 ADD2 119 broad.mit.edu 37 2 70905880 70905880 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:70905880C>T ENST00000264436.3 - 11 1783 c.1339G>A c.(1339-1341)Gat>Aat p.D447N ADD2_ENST00000430656.1_Missense_Mutation_p.D463N|ADD2_ENST00000413157.2_Missense_Mutation_p.D447N|ADD2_ENST00000407644.2_Missense_Mutation_p.D447N|ADD2_ENST00000355733.3_Missense_Mutation_p.D447N NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 447 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TGGACCTCATCGGCCACATTG 0.662000 48 183 0 0 0.003610 0 0 CYP2B6 1555 broad.mit.edu 37 19 41522589 41522589 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:41522589G>A ENST00000324071.4 + 9 1340 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K CYP2B6_ENST00000593831.1_Missense_Mutation_p.E209K|CYP2B6_ENST00000330446.5_Missense_Mutation_p.E245K NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 445 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CGCCCGTGCGGAATTGTTCCT 0.582000 4 23 0 0 0.000248 0 0 STAG3 10734 broad.mit.edu 37 7 99801718 99801718 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:99801718C>T ENST00000426455.1 + 26 3182 c.2775C>T c.(2773-2775)tcC>tcT p.S925S GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Silent_p.S867S|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Silent_p.S925S Q9UJ98 STAG3_HUMAN stromal antigen 3 925 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTCATTGTTCCCGAATCCTGC 0.507000 10 47 0 0 0.000978 0 0 CTNNA2 1496 broad.mit.edu 37 2 79878712 79878712 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:79878712G>A ENST00000466387.1 + 6 754 c.30G>A c.(28-30)ctG>ctA p.L10L CTNNA2_ENST00000361291.4_Silent_p.L44L|CTNNA2_ENST00000540488.1_Silent_p.L10L|CTNNA2_ENST00000402739.4_Silent_p.L10L|CTNNA2_ENST00000409266.1_Silent_p.L10L|CTNNA2_ENST00000541047.1_Silent_p.L10L|CTNNA2_ENST00000496558.1_Silent_p.L10L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 10 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CTATCATTCTGAAATGGGACC 0.408000 22 81 0 0 0.002780 0 0 TYROBP 7305 broad.mit.edu 37 19 36398369 36398369 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:36398369G>A ENST00000585901.2 - 3 226 c.208C>T c.(208-210)Cgg>Tgg p.R70W TYROBP_ENST00000262629.4_Missense_Mutation_p.R70W|TYROBP_ENST00000424586.3_Missense_Mutation_p.R59W|TYROBP_ENST00000589517.1_Missense_Mutation_p.R70W|TYROBP_ENST00000544690.2_Missense_Mutation_p.R59W O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 70 axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1) 8 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) CCTCGCCCCCGAGGGACCAGC 0.657000 8 42 0 0 0.004482 0 0 NCR1 9437 broad.mit.edu 37 19 55417934 55417934 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:55417934G>A ENST00000594765.1 + 3 149 c.124G>A c.(124-126)Gaa>Aaa p.E42K NCR1_ENST00000291890.4_Missense_Mutation_p.E42K|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.E42K|NCR1_ENST00000338835.5_Missense_Mutation_p.E42K|NCR1_ENST00000598576.1_Missense_Mutation_p.E30K|NCR1_ENST00000350790.5_Intron O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 42 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GGTTCCAAAGGAAAAGCAAGT 0.547000 12 77 0 0 0.001855 0 0 FUK 197258 broad.mit.edu 37 16 70502815 70502815 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:70502815C>T ENST00000288078.6 + 9 959 c.727C>T c.(727-729)Ccg>Tcg p.P243S FUK_ENST00000378912.2_Missense_Mutation_p.P275S|FUK_ENST00000571514.1_5'UTR NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 243 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) CCACGTGAGCCCGCCCCTGGA 0.662000 18 83 0 0 0.007413 0 0 ZDHHC6 64429 broad.mit.edu 37 10 114205034 114205034 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:114205034C>T ENST00000369405.3 - 2 584 c.161G>A c.(160-162)gGa>gAa p.G54E ZDHHC6_ENST00000369404.3_Missense_Mutation_p.G54E NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 54 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) ATTCACACTTCCTCCAGTTGT 0.443000 7 32 0 0 0.004482 0 0 PIGB 9488 broad.mit.edu 37 15 55626105 55626105 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:55626105C>T ENST00000164305.5 + 6 985 c.694C>T c.(694-696)Cgt>Tgt p.R232C PIGB_ENST00000539642.1_Missense_Mutation_p.R37C NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 232 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) CTTCATAATTCGTCCCACAGC 0.383000 5 30 0 0 0.001168 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 4 44 0 0 0.001168 0 0 ADAM2 2515 broad.mit.edu 37 8 39645705 39645705 + Missense_Mutation SNP T T A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:39645705T>A ENST00000265708.4 - 9 811 c.708A>T c.(706-708)aaA>aaT p.K236N ADAM2_ENST00000347580.4_Missense_Mutation_p.K217N|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.K236N NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 236 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TGGTTGCAATTTTATTTTCAT 0.294000 11 50 0 0 0.001368 0 0 C1orf173 127254 broad.mit.edu 37 1 75038129 75038129 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:75038129C>T ENST00000326665.5 - 14 3483 c.3265G>A c.(3265-3267)Gaa>Aaa p.E1089K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1089 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AAAGCATCTTCATCCTTGAGT 0.433000 42 130 0 0 0.006230 0 0 CARD10 29775 broad.mit.edu 37 22 37892011 37892011 + Splice_Site SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr22:37892011C>T ENST00000403299.1 - 15 2276 c.e15-1 CARD10_ENST00000251973.5_Splice_Site|CARD10_ENST00000406271.3_Splice_Site Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GACTGGCAGGCTGGGCATGGA 0.637000 5 28 0 0 0.001984 0 0 NLRP12 91662 broad.mit.edu 37 19 54313967 54313967 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:54313967C>T ENST00000324134.6 - 3 1114 c.946G>A c.(946-948)Gag>Aag p.E316K NLRP12_ENST00000391775.3_Missense_Mutation_p.E316K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E316K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E316K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E316K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E316K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E316K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E316K NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 316 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGCCGTTTCTCCTCCCAGCAG 0.562000 11 50 0 0 0.008291 0 0 FGFBP1 9982 broad.mit.edu 37 4 15937978 15937978 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:15937978G>A ENST00000382333.1 - 3 572 c.278C>T c.(277-279)tCc>tTc p.S93F FGFBP1_ENST00000259988.2_Missense_Mutation_p.S93F NM_005130.4 NP_005121.1 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 93 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 AAAGACACAGGAAAATTCATG 0.488000 15 68 0 0 0.003163 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732621 37732621 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:37732621G>A ENST00000330843.4 - 3 1046 c.1034C>T c.(1033-1035)tCc>tTc p.S345F RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S345F|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S197F|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S197F NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 345 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) GCCCTTGGGGGATGGGGAGGA 0.547000 46 327 0 0 0.003610 0 0 ZNF813 126017 broad.mit.edu 37 19 53994074 53994074 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:53994074C>T ENST00000396403.4 + 4 716 c.588C>T c.(586-588)ttC>ttT p.F196F ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) GGAATAATTTCCGGAATTCTT 0.373000 14 83 0 0 0.002450 0 0 RGS18 64407 broad.mit.edu 37 1 192153620 192153620 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:192153620G>A ENST00000367460.3 + 5 825 c.644G>A c.(643-645)cGa>cAa p.R215Q NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 215 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTTAGGAGACGATCACGCTCA 0.358000 26 35 0 0 0.004656 0 0 IKZF3 22806 broad.mit.edu 37 17 37922195 37922195 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:37922195G>A ENST00000346872.3 - 8 1439 c.1378C>T c.(1378-1380)Ctc>Ttc p.L460F IKZF3_ENST00000439167.2_Missense_Mutation_p.L387F|IKZF3_ENST00000439016.2_Missense_Mutation_p.L365F|IKZF3_ENST00000394189.2_Missense_Mutation_p.L278F|IKZF3_ENST00000377958.2_Missense_Mutation_p.L373F|IKZF3_ENST00000377944.3_Missense_Mutation_p.L317F|IKZF3_ENST00000467757.1_Missense_Mutation_p.L404F|IKZF3_ENST00000583368.1_Missense_Mutation_p.L213F|IKZF3_ENST00000535189.1_Missense_Mutation_p.L426F|IKZF3_ENST00000377952.2_Missense_Mutation_p.L239F|IKZF3_ENST00000351680.3_Missense_Mutation_p.L421F|IKZF3_ENST00000346243.3_Missense_Mutation_p.L382F|IKZF3_ENST00000377945.3_Missense_Mutation_p.L326F|IKZF3_ENST00000350532.3_Missense_Mutation_p.L421F NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 460 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TCCAGGAAGAGGACGCGGCAG 0.542000 8 88 0 0 0.003080 0 0 CENPE 1062 broad.mit.edu 37 4 104068603 104068603 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:104068603G>A ENST00000265148.3 - 29 4133 c.4044C>T c.(4042-4044)acC>acT p.T1348T CENPE_ENST00000380026.3_Silent_p.T1323T NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1348 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CTCTTTCCTTGGTTAGAGATT 0.368000 7 70 0 0 0.001984 0 0 PRKCA 5578 broad.mit.edu 37 17 64728899 64728899 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:64728899G>A ENST00000413366.3 + 9 1038 c.1012G>A c.(1012-1014)Gac>Aac p.D338N NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 338 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GAAACTCACGGACTTCAATTT 0.473000 25 112 0 0 0.007291 0 0 OR2W1 26692 broad.mit.edu 37 6 29012589 29012589 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:29012589G>A ENST00000377175.1 - 1 428 c.364C>T c.(364-366)Cgt>Tgt p.R122C NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122G(1)|p.R122S(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 GCTGTAAAACGATCATAGGAC 0.398000 11 31 0 0 0.008291 0 0 C16orf78 123970 broad.mit.edu 37 16 49407910 49407910 + Nonsense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:49407910G>A ENST00000299191.3 + 1 177 c.60G>A c.(58-60)tgG>tgA p.W20* NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 20 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 AATACATGTGGAAGACTGCTG 0.537000 28 72 0 0 0.006320 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656328 40656328 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:40656328G>A ENST00000406785.1 - 2 1282 c.1093C>T c.(1093-1095)Cgc>Tgc p.R365C SLC8A1_ENST00000542024.1_Missense_Mutation_p.R365C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R365C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R365C|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R365C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R365C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R365C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R365C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R365C|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R365C P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 365 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) GCTTGAATGCGATAAAATGCT 0.433000 13 73 0 0 0.002450 0 0 CNGA1 1259 broad.mit.edu 37 4 47938625 47938625 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:47938625C>T ENST00000402813.3 - 10 2235 c.2093G>A c.(2092-2094)cGa>cAa p.R698Q CNGA1_ENST00000358519.4_Missense_Mutation_p.R629Q|CNGA1_ENST00000544810.1_Missense_Mutation_p.R629Q|CNGA1_ENST00000420489.2_Missense_Mutation_p.R629Q|CNGA1_ENST00000514170.1_Missense_Mutation_p.R629Q P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 629 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 CCCCTCCATTCGAGTAACCTT 0.433000 11 105 0 0 0.001368 0 0 TLN2 83660 broad.mit.edu 37 15 63111718 63111718 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:63111718C>T ENST00000561311.1 + 52 7005 c.6775C>T c.(6775-6777)Ctt>Ttt p.L2259F TLN2_ENST00000306829.6_Missense_Mutation_p.L2259F Q9Y4G6 TLN2_HUMAN talin 2 2259 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CCTGTAGATTCTTCAGAAACC 0.557000 33 80 0 0 0.002836 0 0 STXBP4 252983 broad.mit.edu 37 17 53068248 53068248 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:53068248G>A ENST00000376352.2 + 4 317 c.110G>A c.(109-111)gGa>gAa p.G37E STXBP4_ENST00000434978.2_Missense_Mutation_p.G37E|STXBP4_ENST00000398391.2_Intron|STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000405898.1_Missense_Mutation_p.G37E NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 37 PDZ. cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 AAGGTACTAGGAGGAATTAAC 0.408000 16 119 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 9083258 9083258 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:9083258T>C ENST00000397910.4 - 1 8760 c.8557A>G c.(8557-8559)Acc>Gcc p.T2853A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2853 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 TCAGCACTGGTGGGCTTCACA 0.547000 6 16 0 0 0.001168 0 0 TPTE 7179 broad.mit.edu 37 21 10933874 10933874 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr21:10933874C>T ENST00000298232.7 - 16 1318 c.951G>A c.(949-951)gcG>gcA p.A317A TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.A297A|TPTE_ENST00000361285.4_Silent_p.A335A NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 335 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) TACAGTGAATCGCTACGATGT 0.318000 10 230 0 0 0.006214 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 77 0 0 0.000248 0 0 CFAP54 144535 broad.mit.edu 37 12 97045530 97045530 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:97045530C>T ENST00000524981.3 + 3 390 c.390C>T c.(388-390)ttC>ttT p.F130F Q6ZTY8 CL063_HUMAN 104 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TTTTACCATTCTATTTGGGAG 0.318000 8 37 0 0 0.004482 0 0 FCRL4 83417 broad.mit.edu 37 1 157559236 157559236 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:157559236T>C ENST00000271532.1 - 3 200 c.65A>G c.(64-66)aAa>aGa p.K22R NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 22 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AATCACAGGTTTGTGTGCAGC 0.502000 8 44 0 0 0.004482 0 0 GPR87 53836 broad.mit.edu 37 3 151012467 151012467 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:151012467G>A ENST00000260843.4 - 3 1031 c.567C>T c.(565-567)atC>atT p.I189I MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 189 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCAGTCATGGATATTGTCCT 0.448000 23 103 0 0 0.002299 0 0 DMRT1 1761 broad.mit.edu 37 9 847072 847072 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:847072C>T ENST00000382276.3 + 2 616 c.467C>T c.(466-468)cCg>cTg p.P156L DMRT1_ENST00000569227.1_5'UTR NM_021951.2 NP_068770.2 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 1 156 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(10)|ovary(1) 13 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) GGCAGTAACCCGTGCCTCATG 0.612000 12 44 0 0 0.000978 0 0 FYB 2533 broad.mit.edu 37 5 39202018 39202018 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:39202018G>A ENST00000351578.6 - 2 1235 c.1045C>T c.(1045-1047)Ccc>Tcc p.P349S FYB_ENST00000512982.1_Missense_Mutation_p.P349S|FYB_ENST00000515010.1_Missense_Mutation_p.P349S|FYB_ENST00000505428.1_Missense_Mutation_p.P349S|FYB_ENST00000540520.1_Missense_Mutation_p.P359S NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 349 Interaction with SKAP1. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway 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) GTAAACAAGGGAGGCAATGGC 0.512000 5 56 0 0 0.000602 0 0 IGSF9 57549 broad.mit.edu 37 1 159897643 159897643 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:159897643C>T ENST00000368094.1 - 20 3462 c.3265G>A c.(3265-3267)Gac>Aac p.D1089N IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.D1073N NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 1089 cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AATTCTGAGTCCCACTCATAG 0.493000 15 30 0 0 0.004007 0 0 IL37 27178 broad.mit.edu 37 2 113674714 113674714 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:113674714G>A ENST00000263326.3 + 3 196 c.154G>A c.(154-156)Gtg>Atg p.V52M IL37_ENST00000349806.3_Intron|IL37_ENST00000311328.2_Missense_Mutation_p.V26M|IL37_ENST00000352179.3_Missense_Mutation_p.V31M|IL37_ENST00000353225.3_Intron NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 52 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 AGGTCCAAAGGTGAAGAACTT 0.453000 7 42 0 0 0.003080 0 0 SHH 6469 broad.mit.edu 37 7 155604594 155604594 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:155604594C>T ENST00000297261.2 - 1 373 c.223G>A c.(223-225)Gaa>Aaa p.E75K NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 75 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGGGTGAGTTCCTTAAATCGC 0.527000 37 207 0 0 0.004878 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911641 100911641 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:100911641G>A ENST00000328766.5 - 5 1387 c.934C>T c.(934-936)Cgt>Tgt p.R312C ARMCX2_ENST00000330154.2_Missense_Mutation_p.R312C|ARMCX2_ENST00000356824.4_Missense_Mutation_p.R312C NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 312 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 TCTCCAGGACGGAAGCCCATC 0.597000 18 45 0 0 0.008871 0 0 COL21A1 81578 broad.mit.edu 37 6 55925715 55925715 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:55925715C>T ENST00000244728.5 - 26 2723 c.2326G>A c.(2326-2328)Gga>Aga p.G776R COL21A1_ENST00000370819.1_Missense_Mutation_p.G773R|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G176R|COL21A1_ENST00000535941.1_Missense_Mutation_p.G776R NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 776 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) CCTGGGGGTCCCTGAGGACCT 0.493000 6 22 0 0 0.001984 0 0 CHGB 1114 broad.mit.edu 37 20 5904294 5904294 + Nonsense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:5904294C>T ENST00000378961.4 + 4 1708 c.1504C>T c.(1504-1506)Caa>Taa p.Q502* NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 502 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 AGCTAGGTTTCAAGATAAACA 0.493000 16 88 0 0 0.004990 0 0 FAM73A 374986 broad.mit.edu 37 1 78325750 78325750 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:78325750G>A ENST00000370791.3 + 11 1246 c.1214G>A c.(1213-1215)aGg>aAg p.R405K FAM73A_ENST00000443751.2_Missense_Mutation_p.R367K NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 405 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) TCAGCTAACAGGATATTCCTC 0.338000 3 28 0 0 0.004672 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90576971 90576971 + RNA SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:90576971C>T ENST00000551025.1 + 0 5399 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TTGCAAGGTTCTGATCTTTTA 0.388000 8 47 0 0 0.003080 0 0 MAN2A2 4122 broad.mit.edu 37 15 91449243 91449243 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:91449243G>A ENST00000360468.3 + 4 722 c.704G>A c.(703-705)cGa>cAa p.R235Q MAN2A2_ENST00000559717.1_Missense_Mutation_p.R235Q NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 235 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GCGGCAGTCCGAAGGCCAGTA 0.622000 89 223 0 0 0.003610 0 0 EPGN 255324 broad.mit.edu 37 4 75178754 75178754 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:75178754G>A ENST00000413830.1 + 4 335 c.274G>A c.(274-276)Gga>Aga p.G92R EPGN_ENST00000502358.1_Intron|EPGN_ENST00000503098.1_Missense_Mutation_p.G92R|EPGN_ENST00000509145.1_Intron|EPGN_ENST00000332112.4_Missense_Mutation_p.G83R|EPGN_ENST00000514968.1_Missense_Mutation_p.G83R|EPGN_ENST00000505212.1_Intron NM_001270989.1 NP_001257918.1 Q6UW88 EPGN_HUMAN epithelial mitogen 92 EGF-like. activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis extracellular region|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity breast(3)|liver(1)|lung(1)|skin(1) 6 Lung(101;0.196) TGGTTATACTGGAGAAAGGTG 0.289000 7 43 0 0 0.006214 0 0 ASGR2 433 broad.mit.edu 37 17 7011786 7011786 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:7011786G>A ENST00000380952.2 - 4 611 c.347C>T c.(346-348)aCc>aTc p.T116I ASGR2_ENST00000355035.5_Missense_Mutation_p.T116I|ASGR2_ENST00000446679.2_Missense_Mutation_p.T97I|ASGR2_ENST00000254850.7_Missense_Mutation_p.T92I NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172.1|NP_001188281.1|NP_550434.1 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 116 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) CTCACCGTGGGTGCTGATTGC 0.622000 3 7 0 0 0.004672 0 0 PDZD2 23037 broad.mit.edu 37 5 31799548 31799548 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:31799548G>A ENST00000438447.1 + 2 581 c.193G>A c.(193-195)Gaa>Aaa p.E65K PDZD2_ENST00000282493.3_Missense_Mutation_p.E65K O15018 PDZD2_HUMAN PDZ domain containing 2 65 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 CAGCCCCCCCGAAATGGAGAT 0.572000 22 112 0 0 0.003330 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21450417 21450417 + Silent SNP G G A rs111579988 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:21450417G>A ENST00000307378.6 - 10 1716 c.996C>T c.(994-996)ttC>ttT p.F332F SLCO1A2_ENST00000458504.1_Silent_p.F200F|SLCO1A2_ENST00000537524.1_Silent_p.F200F|SLCO1A2_ENST00000390670.3_Silent_p.F330F|SLCO1A2_ENST00000452078.1_Silent_p.F332F NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 332 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TCATGTTAACGAATGCATTGA 0.333000 6 33 0 0 0.001168 0 0 C1orf87 127795 broad.mit.edu 37 1 60463303 60463303 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:60463303G>A ENST00000371201.3 - 11 1565 c.1458C>T c.(1456-1458)taC>taT p.Y486Y C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Silent_p.Y120Y|C1orf87_ENST00000450089.2_Silent_p.Y257Y NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 486 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GATCACACAGGTAGAGGGCAT 0.463000 9 53 0 0 0.006214 0 0 TCOF1 6949 broad.mit.edu 37 5 149743776 149743776 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:149743776G>A ENST00000451292.1 + 3 373 c.265G>A c.(265-267)Gaa>Aaa p.E89K TCOF1_ENST00000445265.2_Missense_Mutation_p.E89K|TCOF1_ENST00000439160.2_Missense_Mutation_p.E89K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E89K|TCOF1_ENST00000394269.3_Missense_Mutation_p.E89K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E89K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E89K|TCOF1_ENST00000504761.2_Missense_Mutation_p.E89K Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 89 Poly-Glu. skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAGAGCTCGGAAGAGGAGGA 0.532000 8 62 0 0 0.006214 0 0 ACSS2 55902 broad.mit.edu 37 20 33500927 33500927 + Nonsense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr20:33500927C>T ENST00000360596.2 + 3 614 c.403C>T c.(403-405)Cag>Tag p.Q135* ACSS2_ENST00000253382.5_Nonsense_Mutation_p.Q135*|ACSS2_ENST00000336325.4_Nonsense_Mutation_p.Q85*|ACSS2_ENST00000476922.1_Intron NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 135 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding p.Q135E(2) cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGAGACCACTCAGATCACATA 0.512000 68 132 0 0 0.003610 0 0 TXK 7294 broad.mit.edu 37 4 48114430 48114430 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:48114430C>T ENST00000264316.4 - 4 359 c.274G>A c.(274-276)Gat>Aat p.D92N TXK_ENST00000510457.1_5'UTR NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 92 SH3. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 GGCAGAAAATCATAAAGTGCC 0.507000 25 150 0 0 0.002780 0 0 KRT78 196374 broad.mit.edu 37 12 53237993 53237993 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:53237993G>A ENST00000359499.4 - 6 612 c.601C>T c.(601-603)Ctt>Ttt p.L201F KRT78_ENST00000304620.4_Missense_Mutation_p.L311F Q8N1N4 K2C78_HUMAN keratin 78 311 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GACACCTGAAGTTCCTGGTAC 0.512000 27 96 0 0 0.005443 0 0 SORL1 6653 broad.mit.edu 37 11 121393405 121393405 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:121393405C>T ENST00000260197.7 + 10 1644 c.1515C>T c.(1513-1515)atC>atT p.I505I SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 505 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GCCTCATCATCGCCACTGGTA 0.577000 31 133 0 0 0.002836 0 0 SCN3A 6328 broad.mit.edu 37 2 165947682 165947682 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:165947682G>A ENST00000360093.3 - 28 5472 c.4981C>T c.(4981-4983)Ctg>Ttg p.L1661L SCN3A_ENST00000540861.1_Silent_p.L144L|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Silent_p.L1612L|SCN3A_ENST00000283254.7_Silent_p.L1661L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1661 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) AGGAAGAGCAGGAGGCCGATG 0.463000 29 92 0 0 0.007291 0 0 BPTF 2186 broad.mit.edu 37 17 65941951 65941951 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:65941951C>T ENST00000321892.4 + 23 7566 c.7505C>T c.(7504-7506)cCa>cTa p.P2502L BPTF_ENST00000424123.3_Missense_Mutation_p.P2363L|BPTF_ENST00000306378.6_Missense_Mutation_p.P2376L|BPTF_ENST00000335221.5_Missense_Mutation_p.P2502L Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2502 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAACCGATTCCAATTCAACCA 0.473000 8 70 0 0 0.003080 0 0 UBL7 84993 broad.mit.edu 37 15 74743147 74743147 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:74743147C>T ENST00000567435.1 - 6 989 c.526G>A c.(526-528)Gat>Aat p.D176N UBL7_ENST00000564488.1_Missense_Mutation_p.D176N|UBL7_ENST00000395081.2_Missense_Mutation_p.D176N|UBL7_ENST00000565335.1_Missense_Mutation_p.D176N|UBL7_ENST00000361351.4_Missense_Mutation_p.D176N Q96S82 UBL7_HUMAN ubiquitin-like 7 (bone marrow stromal cell-derived) 176 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 ACTTACGTATCAAGCATATTG 0.507000 23 70 0 0 0.002299 0 0 CHRNA6 8973 broad.mit.edu 37 8 42612105 42612105 + Missense_Mutation SNP T T C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:42612105T>C ENST00000276410.2 - 4 695 c.340A>G c.(340-342)Aag>Gag p.K114E CHRNA6_ENST00000534622.1_Missense_Mutation_p.K99E|CHRNA6_ENST00000530869.1_5'UTR NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 114 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) TTCCAAATCTTATCTGCAGGA 0.413000 13 71 0 0 0.003163 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280482 105280482 + Nonsense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chrX:105280482G>A ENST00000327674.4 - 1 903 c.568C>T c.(568-570)Caa>Taa p.Q190* SERPINA7_ENST00000372563.1_Nonsense_Mutation_p.Q190* P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 190 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) TTGAGGTCTTGAATTAGACCC 0.408000 30 68 0 0 0.006320 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102995997 102995997 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:102995997C>T ENST00000375735.2 + 12 1974 c.1830C>T c.(1828-1830)ttC>ttT p.F610F DYNC2H1_ENST00000334267.7_Silent_p.F610F|DYNC2H1_ENST00000398093.3_Silent_p.F610F NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 610 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CACAGAAATTCTGCAAGCAAG 0.358000 9 14 0 0 0.006214 0 0 ANK1 286 broad.mit.edu 37 8 41555611 41555611 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:41555611G>A ENST00000396942.1 - 24 2670 c.2587C>T c.(2587-2589)Ccc>Tcc p.P863S ANK1_ENST00000352337.4_Missense_Mutation_p.P863S|ANK1_ENST00000265709.8_Missense_Mutation_p.P904S|ANK1_ENST00000347528.4_Missense_Mutation_p.P863S|ANK1_ENST00000396945.1_Missense_Mutation_p.P863S|ANK1_ENST00000379758.2_Missense_Mutation_p.P863S|ANK1_ENST00000289734.7_Missense_Mutation_p.P863S P16157 ANK1_HUMAN ankyrin 1, erythrocytic 863 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ATGGCACAGGGAATCCTGGGG 0.562000 12 33 0 0 0.003163 0 0 MICALL2 79778 broad.mit.edu 37 7 1479646 1479646 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr7:1479646G>A ENST00000297508.7 - 9 2056 c.1881C>T c.(1879-1881)agC>agT p.S627S MICALL2_ENST00000405088.4_Silent_p.S415S NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 627 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) TCCCAGCAAAGCTGCCTGAGA 0.682000 13 35 0 0 0.002450 0 0 OR5M9 390162 broad.mit.edu 37 11 56230065 56230065 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:56230065C>T ENST00000279791.1 - 1 812 c.813G>A c.(811-813)atG>atA p.M271I NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 271 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) ACACAGCCACCATTTTGCCCT 0.453000 17 54 0 0 0.006122 0 0 UNC13C 440279 broad.mit.edu 37 15 54305845 54305845 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr15:54305845G>A ENST00000545554.1 + 1 745 c.745G>A c.(745-747)Gaa>Aaa p.E249K UNC13C_ENST00000260323.11_Missense_Mutation_p.E249K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E249K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 249 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) GATCTTTAAGGAACTTCAGGG 0.468000 8 104 0 0 0.004482 0 0 SBSN 374897 broad.mit.edu 37 19 36017567 36017567 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:36017567C>T ENST00000452271.2 - 1 1645 c.1617G>A c.(1615-1617)aaG>aaA p.K539K SBSN_ENST00000518157.1_Silent_p.K196K NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 196 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGTTGGCCTCCTTGCTGGCTT 0.597000 27 122 0 0 0.007291 0 0 BCL9 607 broad.mit.edu 37 1 147090735 147090735 + Silent SNP A A C TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:147090735A>C ENST00000234739.3 + 8 1514 c.774A>C c.(772-774)ccA>ccC p.P258P NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 258 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) AGCCAACTCCACCCATTCCGG 0.592000 T """IGH@, IGL@""" B-ALL 13 85 0 0 0.003330 0 0 DNAJC4 3338 broad.mit.edu 37 11 64001477 64001477 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:64001477C>T ENST00000321460.5 + 5 739 c.642C>T c.(640-642)tcC>tcT p.S214S RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321685.3_Intron|DNAJC4_ENST00000355040.4_3'UTR Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 0 protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding endometrium(1)|lung(1)|prostate(1) 3 TATTCTGCTCCCTGCTCCCTG 0.577000 8 49 0 0 0.006214 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736328 140736328 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr5:140736328G>A ENST00000571252.1 + 1 1561 c.1561G>A c.(1561-1563)Gac>Aac p.D521N PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCTCCTTCGACTATGAGCA 0.527000 22 130 0 0 0.001523 0 0 PKD1 5310 broad.mit.edu 37 16 2159767 2159767 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr16:2159767G>A ENST00000262304.4 - 15 5609 c.5401C>T c.(5401-5403)Cct>Tct p.P1801S PKD1_ENST00000423118.1_Missense_Mutation_p.P1801S NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1801 PKD 13. 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 CCACTCACAGGCACCTGCACA 0.677000 4 12 0 0 0.000248 0 0 OLFM3 118427 broad.mit.edu 37 1 102269864 102269864 + Nonsense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:102269864C>T ENST00000370103.4 - 6 1520 c.1307G>A c.(1306-1308)tGg>tAg p.W436* OLFM3_ENST00000338858.5_Nonsense_Mutation_p.W456*|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 456 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GCCATTGTTCCAGGCATAGAG 0.408000 9 58 0 0 0.006214 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47221041 47221041 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr6:47221041C>T ENST00000296861.2 - 4 1853 c.1460G>A c.(1459-1461)aGa>aAa p.R487K NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 487 Death. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) AACATCGTTTCTCCGGTGCTG 0.617000 5 12 0 0 0.000602 0 0 LEPREL1 55214 broad.mit.edu 37 3 189692443 189692443 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:189692443G>A ENST00000319332.5 - 9 1553 c.1356C>T c.(1354-1356)ttC>ttT p.F452F LEPREL1_ENST00000427335.2_Silent_p.F271F NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 452 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AGTTGTAGACGAATGTGATGT 0.537000 5 51 0 0 0.001168 0 0 FCGBP 8857 broad.mit.edu 37 19 40395990 40395990 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:40395990G>A ENST00000221347.6 - 15 7414 c.7407C>T c.(7405-7407)ttC>ttT p.F2469F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2469 VWFD 6. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCATGAAGTCGAAGCGGCGGC 0.672000 19 48 0 0 0.006122 0 0 ZNF142 7701 broad.mit.edu 37 2 219508457 219508457 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr2:219508457G>A ENST00000411696.2 - 7 3561 c.2782C>T c.(2782-2784)Cct>Tct p.P928S ZNF142_ENST00000449707.1_Missense_Mutation_p.P928S P52746 ZN142_HUMAN zinc finger protein 142 928 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGTGATGCAGGTGGGGGCTTC 0.552000 28 195 0 0 0.005443 0 0 ABCC3 8714 broad.mit.edu 37 17 48736713 48736713 + Missense_Mutation SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:48736713G>A ENST00000285238.8 + 7 870 c.790G>A c.(790-792)Gaa>Aaa p.E264K ABCC3_ENST00000427699.1_Missense_Mutation_p.E264K NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 264 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GAGGAAGCAGGAAAAGCAGAC 0.622000 11 74 0 0 0.000978 0 0 ANK3 288 broad.mit.edu 37 10 61830301 61830301 + Nonsense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:61830301C>T ENST00000280772.1 - 37 10529 c.10338G>A c.(10336-10338)tgG>tgA p.W3446* ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3446 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCTCTGTGTTCCAGATATCTT 0.458000 6 42 0 0 0.001168 0 0 LGI2 55203 broad.mit.edu 37 4 25005142 25005142 + Silent SNP G G A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:25005142G>A ENST00000382114.4 - 8 1754 c.1569C>T c.(1567-1569)ttC>ttT p.F523F NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 523 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) ATGCAAAAAAGAAATCTCTCC 0.393000 4 36 0 0 0.000248 0 0 CYP4F3 4051 broad.mit.edu 37 19 15763401 15763401 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr19:15763401C>T ENST00000221307.7 + 8 989 c.941C>T c.(940-942)tCc>tTc p.S314F CYP4F3_ENST00000585846.1_Missense_Mutation_p.S314F|CYP4F3_ENST00000586182.1_Missense_Mutation_p.S314F|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Missense_Mutation_p.S314F NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 314 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 AAGAAGTTGTCCGATGAGGAC 0.517000 28 133 0 0 0.002096 0 0 FLNB 2317 broad.mit.edu 37 3 58094258 58094258 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:58094258C>T ENST00000357272.4 + 13 2180 c.2015C>T c.(2014-2016)cCt>cTt p.P672L FLNB_ENST00000429972.2_Missense_Mutation_p.P672L|FLNB_ENST00000419752.2_Missense_Mutation_p.P503L|FLNB_ENST00000358537.3_Missense_Mutation_p.P672L|FLNB_ENST00000295956.4_Missense_Mutation_p.P672L|FLNB_ENST00000348383.5_Missense_Mutation_p.P672L|FLNB_ENST00000493452.1_Missense_Mutation_p.P503L|FLNB_ENST00000490882.1_Missense_Mutation_p.P672L O75369 FLNB_HUMAN filamin B, beta 672 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACTGTGGATCCTAAGGATGCT 0.473000 5 27 0 0 0.000602 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33955156 33955156 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:33955156C>T ENST00000361328.3 + 5 873 c.720C>T c.(718-720)ctC>ctT p.L240L ZSCAN20_ENST00000373413.2_Intron NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 240 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGAAGGAGCTCTGTAAAGACC 0.547000 9 69 0 0 0.004482 0 0 KIAA0232 9778 broad.mit.edu 37 4 6865206 6865206 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr4:6865206C>T ENST00000307659.5 + 7 3552 c.3097C>T c.(3097-3099)Cct>Tct p.P1033S KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1033S NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 1033 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 AGTCGAAGATCCTGGACTTGA 0.383000 10 58 0 0 0.006214 0 0 ASH1L 55870 broad.mit.edu 37 1 155307894 155307895 + Frame_Shift_Ins INS - - T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr1:155307894_155307895insT ENST00000368346.3 - 27 9442_9443 c.8803_8804insA c.(8803-8805)cccfs p.P2935fs ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.P2930fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2935 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTTTCCAGGGATTTTTTCAAGG 0.416 24 55 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 2 4 --- --- --- --- EPHX2 2053 broad.mit.edu 37 8 27382895 27382895 + Frame_Shift_Del DEL A A - TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr8:27382895delA ENST00000521400.1 + 12 1505 c.1075delA c.(1075-1077)atfs p.N359fs EPHX2_ENST00000521780.1_Frame_Shift_Del_p.N293fs|EPHX2_ENST00000518379.1_Frame_Shift_Del_p.N327fs|EPHX2_ENST00000517536.1_Frame_Shift_Del_p.N176fs|EPHX2_ENST00000380476.3_Frame_Shift_Del_p.N306fs NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 359 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) GGCCAGTTTGAATACTCCCTT 0.453 19 145 --- --- --- --- RAPGEF1 2889 broad.mit.edu 37 9 134504526 134504527 + Frame_Shift_Ins INS - - G TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr9:134504526_134504527insG ENST00000372195.1 - 7 1098_1099 c.855_856insC c.(853-858)ccagccfs p.A286fs RAPGEF1_ENST00000372190.3_Frame_Shift_Ins_p.A287fs|RAPGEF1_ENST00000372189.3_Frame_Shift_Ins_p.A269fs|RAPGEF1_ENST00000481260.1_5'UTR Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 269 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) AGAGGAGGCTTGGGGGGCGCGA 0.540 10 117 --- --- --- --- DIP2C 22982 broad.mit.edu 37 10 461748 461748 + Frame_Shift_Del DEL G G - TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:461748delG ENST00000280886.6 - 7 907 c.820delC c.(820-822)gafs p.R274fs DIP2C_ENST00000381496.3_Frame_Shift_Del_p.R167fs NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 274 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AAGAATTCTCGTAAAGGTGGT 0.438 12 146 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 5 5 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 7 211 --- --- --- --- RP11-25I15.2 0 broad.mit.edu 37 12 43072603 43072603 + RNA DEL T T - TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr12:43072603delT ENST00000548764.1 + 0 465 AGAACTCTGCttttttttttt 0.413 4 5 --- --- --- --- FOS 2353 broad.mit.edu 37 14 75747866 75747867 + Frame_Shift_Ins INS - - TC TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:75747866_75747867insTC ENST00000303562.4 + 4 1091_1092 c.882_883insTC c.(880-885)ctctggfs p.W295fs FOS_ENST00000535987.1_Frame_Shift_Ins_p.W259fs|FOS_ENST00000555347.1_Frame_Shift_Ins_p.W147fs|FOS_ENST00000555686.1_Frame_Shift_Ins_p.W181fs NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 295 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) ACATGGACCTATCTGGGTCCTT 0.624 11 78 --- --- --- --- JAG2 3714 broad.mit.edu 37 14 105614481 105614481 + Frame_Shift_Del DEL G G - TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr14:105614481delG ENST00000331782.3 - 17 2623 c.2220delC c.(2218-2220)ccfs p.P740fs JAG2_ENST00000347004.2_Frame_Shift_Del_p.P702fs NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 740 EGF-like 13. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCTTCCAGCCGGGGGGGCAGG 0.711 2 4 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35620742 35620743 + Frame_Shift_Ins INS - - A TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0919997b-7dd1-482c-a31d-7bd11f1ab8e7 9ac2d3fe-8ba7-483d-acb7-a0a6675354e3 g.chr17:35620742_35620743insA ENST00000353139.5 - 11 1655_1656 c.1174_1175insT c.(1174-1176)tcgfs p.S392fs ACACA_ENST00000394406.2_Frame_Shift_Ins_p.S355fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.S297fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.S277fs NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 355 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CAGATGACGAGATTGTTTGGCT 0.396 19 104 --- --- --- ---