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 AMIGO2 347902 broad.mit.edu 37 12 47471774 47471774 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:47471774C>T ENST00000266581.4 - 2 1478 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K AMIGO2_ENST00000429635.1_Missense_Mutation_p.E338K|AMIGO2_ENST00000321382.3_Missense_Mutation_p.E338K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E338K NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 338 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TAAAAGTTTTCCATCTCTTTA 0.438000 20 77 0 0 0.000958276 0 0 DPH2 1802 broad.mit.edu 37 1 44437122 44437122 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:44437122C>T ENST00000255108.3 + 4 720 c.548C>T c.(547-549)cCc>cTc p.P183L DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.P48L|DPH2_ENST00000529729.1_3'UTR NM_001384.4 NP_001375.2 Q9BQC3 DPH2_HUMAN DPH2 homolog (S. cerevisiae) 183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CCAGCTTTTCCCCAACCAGTG 0.607000 4 13 0 0 0.00024832 0 0 COL12A1 1303 broad.mit.edu 37 6 75839869 75839869 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:75839869C>T ENST00000322507.8 - 37 6457 c.6148G>A c.(6148-6150)Ggg>Agg p.G2050R COL12A1_ENST00000345356.6_Missense_Mutation_p.G886R|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2050R|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2050R NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2050 Fibronectin type-III 16. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TGAACTGGCCCATCAGCATGA 0.413000 7 37 0 0 0.00198382 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401369 139401369 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:139401369G>A ENST00000277541.6 - 23 3775 c.3700C>T c.(3700-3702)Cgg>Tgg p.R1234W NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1234 EGF-like 32; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TTGGGGCTCCGGGACACGGGG 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 6 0 0 6.4e-05 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133664076 133664076 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:133664076G>A ENST00000310926.4 - 10 1597 c.1324C>T c.(1324-1326)Cct>Tct p.P442S SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P366S NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 442 Kazal-like. sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CGGCAGGCAGGAGACTGCGGA 0.542000 24 123 0 0 0.00047179 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602712 96602712 + Missense_Mutation SNP C C A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr10:96602712C>A ENST00000371321.3 + 7 1162 c.1080C>A c.(1078-1080)gaC>gaA p.D360E CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 360 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GATACATCGACCTCATCCCCA 0.537000 18 41 6.49762e-13 2.84583e-12 0.00074312 1 0 FREM2 341640 broad.mit.edu 37 13 39358926 39358926 + Silent SNP C C T rs146568641 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:39358926C>T ENST00000280481.7 + 6 6216 c.6000C>T c.(5998-6000)atC>atT p.I2000I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2000 Calx-beta 3. 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) AAGTTACAATCGTTCCTGACA 0.438000 7 23 0 0 0.000274275 0 0 TCF3 6929 broad.mit.edu 37 19 1612289 1612289 + Missense_Mutation SNP A A G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:1612289A>G ENST00000344749.5 - 18 1796 c.1730T>C c.(1729-1731)cTc>cCc p.L577P TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Missense_Mutation_p.L577P|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Missense_Mutation_p.L492P NM_001136139.2 NP_001129611.1 P15923 TFE2_HUMAN transcription factor 3 580 Helix-loop-helix motif. B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCCGACTTGAGGTGCATCTG 0.667000 T """PBX1, HLF, TFPT""" pre B-ALL 5 21 0 0 0.00116845 0 0 EYA4 2070 broad.mit.edu 37 6 133834097 133834097 + Silent SNP G G A rs138141986 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:133834097G>A ENST00000367895.5 + 16 1886 c.1422G>A c.(1420-1422)ggG>ggA p.G474G EYA4_ENST00000431403.2_Silent_p.G474G|EYA4_ENST00000452339.2_Silent_p.G420G|EYA4_ENST00000355286.6_Silent_p.G451G|EYA4_ENST00000430974.2_Silent_p.G426G|EYA4_ENST00000531901.1_Silent_p.G480G|EYA4_ENST00000355167.3_Silent_p.G474G|EYA4_ENST00000525849.1_Silent_p.G451G|RP3-323P13.2_ENST00000607033.1_RNA NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 474 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TAAGAGGAGGGGTTGACTGGA 0.418000 4 17 0 0 0.00024832 0 0 COG1 9382 broad.mit.edu 37 17 71197605 71197605 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:71197605G>A ENST00000299886.4 + 7 1719 c.1639G>A c.(1639-1641)Gtt>Att p.V547I NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 547 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) GCCCAAGGACGTTTCTCCCAC 0.532000 20 65 0 0 0.00152264 0 0 TNFSF13B 10673 broad.mit.edu 37 13 108955898 108955898 + Nonsense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:108955898C>T ENST00000375887.4 + 5 869 c.691C>T c.(691-693)Cga>Tga p.R231* TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000430559.1_Nonsense_Mutation_p.R212* NM_006573.4 NP_006564.1 Q9Y275 TN13B_HUMAN tumor necrosis factor (ligand) superfamily, member 13b 231 cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) GACTTTGTTTCGATGTATTCA 0.383000 16 52 0 0 0.000566183 0 0 ZNF566 84924 broad.mit.edu 37 19 36940898 36940898 + Missense_Mutation SNP C C G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:36940898C>G ENST00000454319.1 - 5 375 c.241G>C c.(241-243)Gaa>Caa p.E81Q ZNF566_ENST00000424129.2_Missense_Mutation_p.E80Q|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000392170.2_Missense_Mutation_p.E81Q|ZNF566_ENST00000434377.2_Missense_Mutation_p.E80Q NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) CATCTTGATTCCAGGACTGAA 0.303000 7 23 0 0 0.00198382 0 0 TLR5 7100 broad.mit.edu 37 1 223285504 223285504 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:223285504C>T ENST00000540964.1 - 4 1331 c.870G>A c.(868-870)gtG>gtA p.V290V TLR5_ENST00000342210.6_Silent_p.V290V O60602 TLR5_HUMAN toll-like receptor 5 290 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) CCAGGTGTCTCACTGAACTTC 0.478000 8 50 0 0 0.000274275 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73933883 73933883 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:73933883C>T ENST00000476977.1 + 6 2441 c.750C>T c.(748-750)tcC>tcT p.S250S GTF2IRD1_ENST00000455841.2_Silent_p.S282S|GTF2IRD1_ENST00000424337.2_Silent_p.S250S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Silent_p.S250S Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 250 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CCGCCACCTCCTCCTCCATGG 0.672000 9 17 0 0 0.000274275 0 0 CA10 56934 broad.mit.edu 37 17 50008440 50008440 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:50008440C>T ENST00000451037.2 - 3 1129 c.189G>A c.(187-189)ggG>ggA p.G63G CA10_ENST00000340813.6_Silent_p.G69G|CA10_ENST00000285273.4_Silent_p.G63G|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Silent_p.G63G NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 63 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) ACTGCCGTTTCCCCACAGAGC 0.493000 27 62 0 0 0.000720815 0 0 OR2W3 343171 broad.mit.edu 37 1 248059274 248059274 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:248059274C>T ENST00000537741.1 + 3 643 c.386C>T c.(385-387)cCc>cTc p.P129L OR2W3_ENST00000360358.3_Missense_Mutation_p.P129L Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ATCTGCAAGCCCCTGCACTAC 0.612000 13 34 0 0 0.00185496 0 0 CFHR4 10877 broad.mit.edu 37 1 196887426 196887426 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:196887426G>A ENST00000367416.2 + 10 1761 c.1624G>A c.(1624-1626)Ggg>Agg p.G542R CFHR4_ENST00000367418.1_Missense_Mutation_p.G296R|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.G296R NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TGCAAAAACAGGGGATACCAT 0.318000 10 56 0 0 0.000978159 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751321 19751321 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:19751321G>A ENST00000400113.3 - 4 906 c.802C>T c.(802-804)Ccc>Tcc p.P268S NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 268 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GTGGCCAGGGGGAAGTGGATG 0.617000 7 48 0 0 0.000274275 0 0 IPO5 3843 broad.mit.edu 37 13 98637698 98637698 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:98637698C>T ENST00000261574.5 + 6 429 c.249C>T c.(247-249)ctC>ctT p.L83L IPO5_ENST00000490680.1_Silent_p.L65L|IPO5_ENST00000539640.1_Silent_p.L65L NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 65 Importin N-terminal. interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 CCGCCGTTCTCCTAAGACGTC 0.388000 23 71 0 0 0.000720815 0 0 MIA3 375056 broad.mit.edu 37 1 222803275 222803275 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:222803275C>T ENST00000344922.5 + 4 2738 c.2713C>T c.(2713-2715)Cac>Tac p.H905Y MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.H905Y|MIA3_ENST00000470521.1_3'UTR NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 905 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TGACTCGTTCCACTGGACTCC 0.483000 38 229 0 0 0.00128727 0 0 ISM1 140862 broad.mit.edu 37 20 13279725 13279725 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr20:13279725C>T ENST00000262487.3 + 6 1020 c.1014C>T c.(1012-1014)ttC>ttT p.F338F TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 338 AMOP. extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 CCGACATCTTCGACCGCATCA 0.597000 4 14 0 0 0.000602214 0 0 DDX53 168400 broad.mit.edu 37 X 23019218 23019218 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:23019218C>T ENST00000327968.5 + 1 1132 c.1044C>T c.(1042-1044)atC>atT p.I348I RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 348 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 GTGTAGATATCATTATTGCAA 0.353000 8 14 0 0 0.000442599 0 0 GUCY2C 2984 broad.mit.edu 37 12 14772205 14772205 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:14772205G>A ENST00000261170.3 - 24 2951 c.2815C>T c.(2815-2817)Cgt>Tgt p.R939C RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 939 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGACAATAACGAGGCATCTTG 0.473000 19 68 0 0 0.000586117 0 0 SYT12 91683 broad.mit.edu 37 11 66807659 66807659 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:66807659C>T ENST00000393946.2 + 7 1768 c.606C>T c.(604-606)atC>atT p.I202I SYT12_ENST00000525457.1_Silent_p.I202I|SYT12_ENST00000527043.1_Silent_p.I202I|SYT12_ENST00000526281.1_3'UTR Q8IV01 SYT12_HUMAN synaptotagmin XII 202 C2 1. cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 ACGAGCAGATCGTGGGCATTT 0.672000 7 34 0 0 0.000274275 0 0 KIAA1210 57481 broad.mit.edu 37 X 118239003 118239003 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:118239003C>T ENST00000402510.2 - 7 1019 c.1020G>A c.(1018-1020)aaG>aaA p.K340K NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 340 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 TTTGTGGATTCTTAGGTGACT 0.453000 31 39 0 0 0.00283554 0 0 WIPF2 147179 broad.mit.edu 37 17 38418887 38418887 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:38418887G>A ENST00000323571.4 + 4 547 c.307G>A c.(307-309)Ggt>Agt p.G103S WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.G103S|WIPF2_ENST00000585043.1_Missense_Mutation_p.G103S NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 103 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 AGCCAAGGATGGTTCAGGTAT 0.537000 HNSCC(43;0.11) 11 44 0 0 0.00136819 0 0 FBXO40 51725 broad.mit.edu 37 3 121345715 121345715 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:121345715C>T ENST00000338040.4 + 4 2502 c.2088C>T c.(2086-2088)gtC>gtT p.V696V NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 696 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AGAGCTTAGTCTCCACCTTTA 0.478000 6 39 0 0 0.00198382 0 0 PPP1R36 145376 broad.mit.edu 37 14 65053991 65053991 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:65053991G>A ENST00000298705.1 + 10 887 c.791G>A c.(790-792)gGg>gAg p.G264E RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 264 GAAGAAGTAGGGAGACTCTTT 0.418000 7 30 0 0 0.00198382 0 0 SCAND3 114821 broad.mit.edu 37 6 28542979 28542979 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:28542979G>A ENST00000452236.2 - 3 2120 c.1503C>T c.(1501-1503)ttC>ttT p.F501F NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 501 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.F501F(1) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ACATCTGAATGAACCACAAAA 0.433000 14 57 0 0 0.000308642 0 0 VPS33A 65082 broad.mit.edu 37 12 122716937 122716937 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:122716937G>A ENST00000267199.4 - 13 1759 c.1647C>T c.(1645-1647)ttC>ttT p.F549F RP11-512M8.5_ENST00000535844.1_Silent_p.F510F NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 549 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CGCCCCCAAGGAAAAATATCA 0.398000 9 31 0 0 0.000274275 0 0 DEFB121 245934 broad.mit.edu 37 20 29993947 29993947 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr20:29993947G>A ENST00000376314.2 - 1 122 c.9C>T c.(7-9)ctC>ctT p.L3L DEFB121_ENST00000376312.3_Intron NM_001011878.2 NP_001011878.1 Q5J5C9 DB121_HUMAN defensin, beta 121 3 defense response to bacterium extracellular region large_intestine(1)|lung(1) 2 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GCAGAAGAAGGAGCTTCATGA 0.488000 7 27 0 0 0.000157383 0 0 DOCK8 81704 broad.mit.edu 37 9 332409 332409 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:332409C>T ENST00000432829.2 + 10 1168 c.852C>T c.(850-852)gtC>gtT p.V284V DOCK8_ENST00000469391.1_Silent_p.V284V|DOCK8_ENST00000453981.1_Silent_p.V352V NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 352 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TTGAAAAAGTCCTGCAGCAGG 0.348000 5 9 0 0 0.00116845 0 0 C19orf45 374877 broad.mit.edu 37 19 7570315 7570315 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:7570315G>A ENST00000361664.2 + 5 1029 c.888G>A c.(886-888)agG>agA p.R296R NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 296 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 TCTATGCCAGGGAGCCAGGTG 0.642000 8 10 0 0 0.000157383 0 0 CD163 9332 broad.mit.edu 37 12 7639216 7639216 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:7639216C>T ENST00000359156.4 - 10 2539 c.2337G>A c.(2335-2337)ggG>ggA p.G779G CD163_ENST00000541972.1_Silent_p.G767G|CD163_ENST00000432237.2_Silent_p.G779G|CD163_ENST00000396620.3_Silent_p.G812G NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 779 SRCR 7. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCCAGATGGGCCCTGTTCCTT 0.547000 26 109 0 0 0.00209593 0 0 OR52E2 119678 broad.mit.edu 37 11 5080816 5080816 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:5080816G>A ENST00000321522.2 - 1 41 c.42C>T c.(40-42)ttC>ttT p.F14F NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CCAGCAACAGGAAGGAGGAGG 0.483000 9 26 0 0 0.000442599 0 0 FMN2 56776 broad.mit.edu 37 1 240370352 240370352 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:240370352C>T ENST00000319653.9 + 5 2470 c.2240C>T c.(2239-2241)tCc>tTc p.S747F NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 747 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ATACAGACTTCCCCCACGGAA 0.572000 6 12 0 0 0.00198382 0 0 FCRL6 343413 broad.mit.edu 37 1 159779934 159779934 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:159779934C>T ENST00000321935.6 + 7 1044 c.958C>T c.(958-960)Cct>Tct p.P320S FCRL6_ENST00000392235.3_Missense_Mutation_p.P218S|FCRL6_ENST00000368106.3_Missense_Mutation_p.P313S|FCRL6_ENST00000339348.5_Missense_Mutation_p.P313S Q6DN72 FCRL6_HUMAN Fc receptor-like 6 313 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) TCCTTGGCTTCCTGCGAGCCT 0.517000 19 77 0 0 0.000958276 0 0 SEZ6L 23544 broad.mit.edu 37 22 26736566 26736566 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr22:26736566G>A ENST00000529632.2 + 10 2376 c.2180G>A c.(2179-2181)gGa>gAa p.G727E SEZ6L_ENST00000403121.1_Missense_Mutation_p.G500E|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G500E|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G727E|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G727E|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G727E|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G727E NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 727 CUB 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTCATCTTTGGAAAGGGCCAG 0.468000 10 32 0 0 0.00185496 0 0 HTR1E 3354 broad.mit.edu 37 6 87725331 87725331 + Silent SNP C C T rs143123336 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:87725331C>T ENST00000305344.4 + 2 982 c.279C>T c.(277-279)ttC>ttT p.F93F HTR1E_ENST00000369584.1_Silent_p.F93F NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 93 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TTGGGTACTTCCTCTGTGAGG 0.562000 9 56 0 0 0.000442599 0 0 SPINK5 11005 broad.mit.edu 37 5 147498040 147498040 + Missense_Mutation SNP G G C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:147498040G>C ENST00000359874.3 + 23 2226 c.2153G>C c.(2152-2154)aGa>aCa p.R718T SPINK5_ENST00000256084.7_Missense_Mutation_p.R718T|SPINK5_ENST00000398454.1_Missense_Mutation_p.R718T NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 718 Kazal-like 11. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAATGGAAGACTCAGCTGT 0.408000 14 50 0 0 0.00185496 0 0 AE000661.37 0 broad.mit.edu 37 14 22933244 22933244 + RNA SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:22933244G>A ENST00000514473.2 - 0 225 TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA ACAGTGCTTGGGCTACGAATG 0.433000 9 17 0 0 0.00136819 0 0 NACA2 342538 broad.mit.edu 37 17 59668251 59668251 + Nonsense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:59668251C>T ENST00000521764.1 - 1 312 c.291G>A c.(289-291)tgG>tgA p.W97* NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 97 NAC-A/B. protein transport cytoplasm|nucleus p.W97*(1) large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TCTTAGATTTCCAGATAGTGA 0.448000 29 113 0 0 0.000814825 0 0 CPS1 1373 broad.mit.edu 37 2 211525297 211525297 + Missense_Mutation SNP T T A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:211525297T>A ENST00000233072.5 + 32 4041 c.3845T>A c.(3844-3846)gTg>gAg p.V1282E CPS1_ENST00000451903.2_Missense_Mutation_p.V831E|CPS1_ENST00000430249.2_Missense_Mutation_p.V1288E NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1282 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GCCACCAAGGTGATGATTGGA 0.403000 30 79 0 0 0.00178596 0 0 SGCD 6444 broad.mit.edu 37 5 156184689 156184689 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:156184689C>T ENST00000435422.3 + 7 1157 c.670C>T c.(670-672)Ctg>Ttg p.L224L SGCD_ENST00000337851.4_Silent_p.L225L|SGCD_ENST00000447401.1_Silent_p.L225L|SGCD_ENST00000517913.1_Silent_p.L225L NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 224 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGGACAGAGCTGAGACTGGA 0.522000 19 98 0 0 0.00152264 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85492217 85492217 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:85492217C>T ENST00000393217.2 + 12 3033 c.2972C>T c.(2971-2973)cCt>cTt p.P991L NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 991 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TGTGATACACCTACCATTGTA 0.328000 11 32 0 0 0.000978159 0 0 E2F8 79733 broad.mit.edu 37 11 19246901 19246901 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:19246901G>A ENST00000527884.1 - 12 2520 c.2288C>T c.(2287-2289)cCa>cTa p.P763L E2F8_ENST00000250024.4_Missense_Mutation_p.P763L|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 763 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity p.P763Q(1) 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 CTCTATTCTTGGAGACACAGG 0.532000 8 42 0 0 0.000274275 0 0 C2orf78 388960 broad.mit.edu 37 2 74044065 74044065 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:74044065C>T ENST00000409561.1 + 3 2836 c.2715C>T c.(2713-2715)ttC>ttT p.F905F NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 905 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TGCAGTTTTTCATTGAAAGGG 0.443000 5 10 0 0 0.000602214 0 0 NPC1L1 29881 broad.mit.edu 37 7 44575876 44575876 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:44575876G>A ENST00000289547.4 - 4 1888 c.1833C>T c.(1831-1833)ttC>ttT p.F611F NPC1L1_ENST00000546276.1_Silent_p.F611F|NPC1L1_ENST00000381160.3_Silent_p.F611F|NPC1L1_ENST00000423141.1_Silent_p.F611F NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 611 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) ACGTGACCTGGAACATGCCAG 0.642000 10 33 0 0 0.000978159 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389911 150389911 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:150389911C>T ENST00000223293.5 + 3 631 c.537C>T c.(535-537)atC>atT p.I179I NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 179 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGGGCGAATCTGTGCCTTTA 0.483000 9 34 0 0 0.000673444 0 0 ADAM2 2515 broad.mit.edu 37 8 39694659 39694659 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:39694659G>A ENST00000265708.4 - 2 231 c.128C>T c.(127-129)tCg>tTg p.S43L ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.S43L|ADAM2_ENST00000521880.1_Missense_Mutation_p.S43L|ADAM2_ENST00000379853.2_Missense_Mutation_p.S43L NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 43 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.S43L(1) 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) CATTACCTGCGATTCAATTCC 0.303000 9 48 0 0 0.000673444 0 0 DSP 1832 broad.mit.edu 37 6 7580074 7580074 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:7580074G>A ENST00000379802.3 + 23 3992 c.3651G>A c.(3649-3651)acG>acA p.T1217T DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1217 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTAACATTACGAAGACCACCA 0.368000 4 20 0 0 0.00024832 0 0 STIM1 6786 broad.mit.edu 37 11 4080625 4080625 + Splice_Site SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:4080625C>T ENST00000300737.4 + 5 1181 c.613_splice c.e5+1 p.L204_splice STIM1_ENST00000527651.1_Splice_Site_p.L204_splice|STIM1_ENST00000533977.1_Splice_Site_p.L31_splice|STIM1_ENST00000527484.1_3'UTR NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 204 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) GGCCTCCTCTCTGTGAGTCTT 0.542000 4 11 0 0 0.00024832 0 0 GJB6 10804 broad.mit.edu 37 13 20797525 20797525 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:20797525C>T ENST00000356192.6 - 5 715 c.95G>A c.(94-96)cGa>cAa p.R32Q GJB6_ENST00000241124.6_Missense_Mutation_p.R32Q|GJB6_ENST00000400066.3_Missense_Mutation_p.R32Q|GJB6_ENST00000400065.3_Missense_Mutation_p.R32Q NM_001110219.2 NP_001103689.1 O95452 CXB6_HUMAN gap junction protein, beta 6, 30kDa 32 cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) GATCATGACTCGGAAAATAAA 0.532000 12 50 0 0 0.00185496 0 0 PTPRT 11122 broad.mit.edu 37 20 41076937 41076937 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr20:41076937C>T ENST00000373198.3 - 9 1718 c.1483G>A c.(1483-1485)Ggg>Agg p.G495R PTPRT_ENST00000373190.1_Missense_Mutation_p.G495R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G495R|PTPRT_ENST00000373187.1_Missense_Mutation_p.G495R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G495R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G495R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G495R NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 495 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) AAGGGCCCCCCTTGGATGGAT 0.507000 11 68 0 0 0.00185496 0 0 KRT6A 3853 broad.mit.edu 37 12 52886863 52886863 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:52886863G>A ENST00000330722.6 - 1 178 c.110C>T c.(109-111)tCc>tTc p.S37F NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 37 Head. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GCGGGACACGGAGACGCTGCT 0.662000 15 39 0 0 0.000308642 0 0 ADAM23 8745 broad.mit.edu 37 2 207432017 207432017 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:207432017G>A ENST00000264377.3 + 15 1793 c.1465G>A c.(1465-1467)Gga>Aga p.G489R ADAM23_ENST00000374415.3_Missense_Mutation_p.G489R|ADAM23_ENST00000374416.1_Missense_Mutation_p.G489R NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 489 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GAGAGGAGGTGGAGCCTGCCT 0.383000 15 40 0 0 0.000308642 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58551914 58551914 + Splice_Site SNP T T G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:58551914T>G ENST00000282326.1 + 4 712 c.e4+2 NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCATCGCAGGTGAGCCCGGGG 0.617000 6 16 0 0 0.00116845 0 0 SALL1 6299 broad.mit.edu 37 16 51173383 51173383 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:51173383G>A ENST00000440970.1 - 2 2890 c.2459C>T c.(2458-2460)cCa>cTa p.P820L SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P917L|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 917 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGAGATGGCTGGGCTGCCAGC 0.552000 13 25 0 0 0.00244969 0 0 CYP3A5 1577 broad.mit.edu 37 7 99272200 99272200 + Nonsense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:99272200C>T ENST00000343703.5 - 4 530 c.144G>A c.(142-144)tgG>tgA p.W48* CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Nonsense_Mutation_p.W58*|CYP3A5_ENST00000222982.4_Nonsense_Mutation_p.W58* cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) TGTCAAATTTCCAGAGACCCT 0.398000 7 21 0 0 0.000157383 0 0 SLC14A2 8170 broad.mit.edu 37 18 43212336 43212336 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr18:43212336C>T ENST00000255226.6 + 5 1359 c.543C>T c.(541-543)ctC>ctT p.L181L SLC14A2_ENST00000586448.1_Silent_p.L181L NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 181 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCTCAGGACTCCATGGGTACA 0.537000 8 56 0 0 0.000442599 0 0 BRPF1 7862 broad.mit.edu 37 3 9785987 9785987 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:9785987G>A ENST00000383829.2 + 9 3119 c.2715G>A c.(2713-2715)ccG>ccA p.P905P BRPF1_ENST00000457855.1_Silent_p.P899P|BRPF1_ENST00000424362.1_Silent_p.P898P|BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000302054.3_Silent_p.P899P NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 899 Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) AAAAGAACCCGAAGACAGCTG 0.632000 12 32 0 0 0.000978159 0 0 CDKL5 6792 broad.mit.edu 37 X 18622217 18622217 + Silent SNP G G T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:18622217G>T ENST00000379989.3 + 13 1458 c.1173G>T c.(1171-1173)ggG>ggT p.G391G CDKL5_ENST00000379996.3_Silent_p.G391G|CDKL5_ENST00000463994.1_3'UTR NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 391 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) GCCAGCCTGGGTCTACCAGCA 0.453000 21 20 4.96729e-08 2.17036e-07 0.00121646 1 0 DNAH10 196385 broad.mit.edu 37 12 124285974 124285974 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:124285974C>T ENST00000409039.3 + 15 2280 c.2255C>T c.(2254-2256)tCa>tTa p.S752L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 752 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AACTGGAACTCACTAGGTAAC 0.378000 14 39 0 0 0.000308642 0 0 F13B 2165 broad.mit.edu 37 1 197029651 197029651 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:197029651C>T ENST00000367412.1 - 5 693 c.650G>A c.(649-651)aGa>aAa p.R217K NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 217 Sushi 4. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TTCAATTAATCTTAAAGAAGA 0.274000 5 41 0 0 0.00116845 0 0 UBASH3A 53347 broad.mit.edu 37 21 43862599 43862599 + Silent SNP A A G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr21:43862599A>G ENST00000319294.6 + 12 1555 c.1524A>G c.(1522-1524)gaA>gaG p.E508E UBASH3A_ENST00000398367.1_Silent_p.E470E|UBASH3A_ENST00000291535.6_Silent_p.E470E NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 508 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 TACGAGTGGAACCTGGAATCT 0.413000 17 72 0 0 0.000422831 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921271 12921271 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:12921271C>T ENST00000240189.2 + 4 1149 c.1062C>T c.(1060-1062)ctC>ctT p.L354L NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 354 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCGAGACCCTCGTGTTAGAGG 0.537000 31 62 0 0 0.00178596 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321797 79321797 + Missense_Mutation SNP A A G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:79321797A>G ENST00000428286.1 - 8 5516 c.4316T>C c.(4315-4317)gTt>gCt p.V1439A PRUNE2_ENST00000376718.3_Missense_Mutation_p.V1798A Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1798 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTGCCATGCAACATCTCCTGT 0.463000 8 18 0 0 0.000157383 0 0 SLFN13 146857 broad.mit.edu 37 17 33767892 33767892 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:33767892G>A ENST00000285013.6 - 6 2691 c.2416C>T c.(2416-2418)Cca>Tca p.P806S SLFN13_ENST00000542635.1_Missense_Mutation_p.P806S|SLFN13_ENST00000360502.2_Missense_Mutation_p.P488S|SLFN13_ENST00000534689.1_Missense_Mutation_p.P488S|SLFN13_ENST00000526861.1_Missense_Mutation_p.P806S|SLFN13_ENST00000533791.1_Missense_Mutation_p.P806S NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 806 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ACATCCTTTGGAGAATAGCCC 0.448000 14 34 0 0 0.00244969 0 0 PRPF40A 55660 broad.mit.edu 37 2 153527837 153527837 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:153527837G>A ENST00000410080.1 - 14 1970 c.1429C>T c.(1429-1431)Cgt>Tgt p.R477C NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 504 FF 2. mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 ATTTCAAGACGATCACGTTCT 0.264000 20 85 0 0 0.000720815 0 0 BCMO1 53630 broad.mit.edu 37 16 81295858 81295858 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:81295858C>T ENST00000258168.2 + 4 902 c.441C>T c.(439-441)atC>atT p.I147I BCMO1_ENST00000564552.1_Silent_p.I147I|BCMO1_ENST00000425577.2_Silent_p.I78I NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 147 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 TCAGGAAAATCAACCCACAGA 0.507000 18 38 0 0 0.00121646 0 0 DNAH14 127602 broad.mit.edu 37 1 225155175 225155175 + Silent SNP C C A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:225155175C>A ENST00000430092.1 + 6 756 c.541C>A c.(541-543)Cgg>Agg p.R181R DNAH14_ENST00000439375.2_Silent_p.R181R|DNAH14_ENST00000366849.1_Silent_p.R181R|DNAH14_ENST00000366850.3_Silent_p.R181R|DNAH14_ENST00000366848.1_Silent_p.R181R|DNAH14_ENST00000400952.3_Silent_p.R181R NM_001373.1 NP_001364.1 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 308 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 TTGCCTTCCTCGGAAAAGTCC 0.294000 46 91 2.64514e-33 1.16131e-32 0.000781405 1 0 PTPRN 5798 broad.mit.edu 37 2 220166879 220166879 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:220166879G>A ENST00000295718.2 - 6 1214 c.974C>T c.(973-975)gCt>gTt p.A325V AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.A235V|PTPRN_ENST00000409251.3_Missense_Mutation_p.A325V NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 325 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) AGCTGGGGAAGCAGGCTTCTC 0.612000 4 21 0 0 0.000602214 0 0 LYZ 4069 broad.mit.edu 37 12 69746962 69746962 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:69746962G>A ENST00000261267.2 + 4 478 c.410G>A c.(409-411)aGa>aAa p.R137K LYZ_ENST00000549690.1_Missense_Mutation_p.E111K NM_000239.2 NP_000230.1 P61626 LYSC_HUMAN lysozyme 137 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) TGTCAAAACAGAGATGTCCGT 0.378000 9 79 0 0 0.000673444 0 0 TF 7018 broad.mit.edu 37 3 133497452 133497452 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:133497452C>T ENST00000402696.3 + 17 2570 c.2085C>T c.(2083-2085)ttC>ttT p.F695F TF_ENST00000264998.3_Silent_p.F568F NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 695 cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CCTGCACTTTCCGTAGACCTT 0.463000 5 29 0 0 0.000602214 0 0 SAMD4A 23034 broad.mit.edu 37 14 55251330 55251330 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:55251330C>T ENST00000251091.5 + 10 2161 c.1856C>T c.(1855-1857)gCc>gTc p.A619V SAMD4A_ENST00000357634.3_Missense_Mutation_p.A706V|SAMD4A_ENST00000392067.3_Missense_Mutation_p.A707V|SAMD4A_ENST00000554335.1_Missense_Mutation_p.A707V|SAMD4A_ENST00000555192.1_Missense_Mutation_p.A334V NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 707 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 ACCGAACACGCCCTGGGAGGT 0.552000 14 55 0 0 0.000308642 0 0 IL7R 3575 broad.mit.edu 37 5 35867477 35867477 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:35867477G>A ENST00000303115.3 + 3 420 c.291G>A c.(289-291)aaG>aaA p.K97K IL7R_ENST00000511982.1_Silent_p.K97K|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Silent_p.K97K|IL7R_ENST00000343305.4_Silent_p.K97K NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 97 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TCGAGACAAAGAAATTCTTAC 0.378000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 14 31 0 0 0.00244969 0 0 IL13RA2 3598 broad.mit.edu 37 X 114239877 114239877 + Splice_Site SNP A A C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:114239877A>C ENST00000371936.1 - 10 1248 c.997_splice c.e10-1 p.G333_splice IL13RA2_ENST00000243213.1_Splice_Site_p.G333_splice Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 333 Fibronectin type-III 3. extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 ATAGGTCTTCACCTAGGATTA 0.348000 10 7 0 0 0.000673444 0 0 FAM184A 79632 broad.mit.edu 37 6 119345462 119345462 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:119345462C>T ENST00000338891.7 - 2 1119 c.676G>A c.(676-678)Gag>Aag p.E226K FAM184A_ENST00000522284.1_Missense_Mutation_p.E106K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E106K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E226K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E106K NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 226 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 GACTCCACCTCCATTCTGTGT 0.433000 7 39 0 0 0.000157383 0 0 UGT2A3 79799 broad.mit.edu 37 4 69811058 69811058 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr4:69811058C>T ENST00000251566.4 - 2 860 c.830G>A c.(829-831)gGa>gAa p.G277E UGT2A3_ENST00000420231.2_5'UTR NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 277 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ACAGTGCAATCCTCCAACAAA 0.363000 9 28 0 0 0.000673444 0 0 UQCRC2 7385 broad.mit.edu 37 16 21968575 21968575 + Missense_Mutation SNP T T C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:21968575T>C ENST00000268379.4 + 2 817 c.53T>C c.(52-54)gTt>gCt p.V18A UQCRC2_ENST00000561553.1_Missense_Mutation_p.V18A NM_003366.2 NP_003357.2 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 18 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(48;0.0264) TCCCTCAAAGTTGCCCCCAAA 0.448000 8 27 0 0 0.000442599 0 0 SELE 6401 broad.mit.edu 37 1 169697037 169697037 + Silent SNP C C T rs144324234 byFrequency TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:169697037C>T ENST00000333360.7 - 9 1450 c.1311G>A c.(1309-1311)ccG>ccA p.P437P SELE_ENST00000367779.4_Intron|SELE_ENST00000367781.4_Silent_p.P374P|SELE_ENST00000367776.1_Silent_p.P374P|SELE_ENST00000367777.1_Intron|SELE_ENST00000367775.1_Silent_p.P312P|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367780.4_Silent_p.P312P NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 437 Sushi 5. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CCAAACCCTTCGGGGGCTGGT 0.488000 12 45 0 0 0.000978159 0 0 SALL1 6299 broad.mit.edu 37 16 51173738 51173738 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:51173738G>A ENST00000440970.1 - 2 2535 c.2104C>T c.(2104-2106)Ccc>Tcc p.P702S SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P799S|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 799 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TAGCTGTCGGGGACTGGGGTG 0.507000 17 56 0 0 0.00121646 0 0 DSTYK 25778 broad.mit.edu 37 1 205138706 205138706 + Silent SNP A A G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:205138706A>G ENST00000367162.3 - 3 939 c.909T>C c.(907-909)ctT>ctC p.L303L DSTYK_ENST00000367160.4_Silent_p.L303L|DSTYK_ENST00000367161.3_Silent_p.L303L NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 303 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 GCTGGCGATAAAGCGGTGATC 0.488000 4 29 0 0 0.000602214 0 0 GJD2 57369 broad.mit.edu 37 15 35044924 35044924 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:35044924C>T ENST00000290374.4 - 2 1197 c.721G>A c.(721-723)Gaa>Aaa p.E241K NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 241 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) ACATAACATTCCACCTCCTTG 0.483000 5 19 0 0 0.000602214 0 0 MLKL 197259 broad.mit.edu 37 16 74709293 74709293 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:74709293G>A ENST00000306247.7 - 4 884 c.545C>T c.(544-546)tCg>tTg p.S182L MLKL_ENST00000308807.7_Silent_p.I400I NM_001142497.1 NP_001135969.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 182 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 CCCAGAGGACGATTCCAAAGC 0.478000 6 37 0 0 0.00198382 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50453419 50453419 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:50453419C>T ENST00000447370.2 - 11 1995 c.1905G>A c.(1903-1905)ggG>ggA p.G635G SIGLEC11_ENST00000426971.2_Silent_p.G539G|CTC-326K19.6_ENST00000451973.1_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 635 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CTTCCCCCTTCCCCGGGGTGT 0.662000 4 5 0 0 0.00024832 0 0 HOXA2 3199 broad.mit.edu 37 7 27142096 27142096 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:27142096C>T ENST00000222718.5 - 1 334 c.24G>A c.(22-24)gaG>gaA p.E8E NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 8 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 TAAAACCAATCTCTCGCTCAA 0.502000 6 43 0 0 0.000157383 0 0 MAP3K5 4217 broad.mit.edu 37 6 136888793 136888793 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:136888793C>T ENST00000359015.4 - 26 4097 c.3737G>A c.(3736-3738)gGa>gAa p.G1246E MAP3K5_ENST00000355845.4_Missense_Mutation_p.G493E NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1246 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TTTCATCCTTCCAAGCTGTAC 0.438000 6 20 0 0 0.00116845 0 0 BRDT 676 broad.mit.edu 37 1 92446461 92446461 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:92446461G>A ENST00000370389.2 + 10 2181 c.1257G>A c.(1255-1257)agG>agA p.R419R BRDT_ENST00000399546.2_Silent_p.R492R|BRDT_ENST00000362005.3_Silent_p.R492R|BRDT_ENST00000394530.3_Silent_p.R446R|BRDT_ENST00000402388.1_Silent_p.R492R NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CAAAGAAAAGGAAACAACAGT 0.308000 8 27 0 0 0.000442599 0 0 KRT74 121391 broad.mit.edu 37 12 52967381 52967381 + Missense_Mutation SNP A A G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:52967381A>G ENST00000549343.1 - 1 219 c.181T>C c.(181-183)Ttc>Ctc p.F61L KRT74_ENST00000305620.2_Missense_Mutation_p.F61L Q7RTS7 K2C74_HUMAN keratin 74 61 Gly-rich.|Head. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GCCACATTGAAAGAAATACGC 0.612000 4 18 0 0 0.00024832 0 0 GRIK5 2901 broad.mit.edu 37 19 42563645 42563645 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:42563645G>A ENST00000262895.3 - 5 542 c.543C>T c.(541-543)ttC>ttT p.F181F GRIK5_ENST00000301218.4_Silent_p.F181F|GRIK5_ENST00000593562.1_Silent_p.F181F NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 181 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) TGGAGATGAGGAAGCCACGCA 0.607000 10 13 0 0 0.000978159 0 0 APOL6 80830 broad.mit.edu 37 22 36055516 36055516 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr22:36055516G>A ENST00000409652.3 + 3 1181 c.905G>A c.(904-906)gGg>gAg p.G302E NM_030641.3 NP_085144.1 Q9BWW8 APOL6_HUMAN apolipoprotein L, 6 302 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 AGGGCCAGAGGGGTGGGGAAG 0.542000 8 38 0 0 0.000274275 0 0 APP 351 broad.mit.edu 37 21 27327992 27327992 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr21:27327992G>A ENST00000358918.3 - 12 1735 c.1536C>T c.(1534-1536)ttC>ttT p.F512F APP_ENST00000359726.3_Silent_p.F456F|APP_ENST00000357903.3_Silent_p.F493F|APP_ENST00000354192.3_Silent_p.F381F|APP_ENST00000348990.5_Silent_p.F437F|APP_ENST00000448388.2_Silent_p.F402F|APP_ENST00000346798.3_Silent_p.F512F|APP_ENST00000440126.3_Silent_p.F488F|APP_ENST00000439274.2_Silent_p.F456F NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 512 Heparin-binding. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity p.F512F(2) endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) GCACATGCTCGAAATGCTTTA 0.493000 15 38 0 0 0.000308642 0 0 KCNK13 56659 broad.mit.edu 37 14 90651108 90651108 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:90651108G>A ENST00000282146.4 + 2 1429 c.988G>A c.(988-990)Gac>Aac p.D330N NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 330 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CATAGAGACAGACGGGGTGGC 0.622000 19 49 0 0 0.000958276 0 0 MTMR14 64419 broad.mit.edu 37 3 9719742 9719742 + Splice_Site SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:9719742G>A ENST00000296003.4 + 9 1019 c.897_splice c.e9+1 p.Q299_splice MTMR14_ENST00000351233.5_Splice_Site_p.Q299_splice|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Splice_Site_p.Q299_splice NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 299 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) GCCAGTATCAGGTGAGGGGCC 0.552000 7 33 0 0 0.000274275 0 0 NPAS4 266743 broad.mit.edu 37 11 66190353 66190353 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:66190353C>T ENST00000311034.2 + 4 815 c.639C>T c.(637-639)ttC>ttT p.F213F NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 213 PAS 2. transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CCTCGCTCTTCCTGGCCATGT 0.612000 9 22 0 0 0.000442599 0 0 SFTPB 6439 broad.mit.edu 37 2 85892448 85892448 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:85892448C>T ENST00000393822.3 - 7 771 c.672G>A c.(670-672)agG>agA p.R224R SFTPB_ENST00000342375.3_Silent_p.R212R|SFTPB_ENST00000409383.1_Silent_p.R224R|SFTPB_ENST00000519937.2_Silent_p.R212R P07988 PSPB_HUMAN surfactant protein B 212 Saposin B-type 2. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 TGATCAGAGCCCTGCAGAGCC 0.597000 17 88 0 0 0.00121646 0 0 BRINP2 57795 broad.mit.edu 37 1 177250324 177250324 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:177250324C>T ENST00000361539.4 + 8 2324 c.2012C>T c.(2011-2013)cCc>cTc p.P671L FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 671 extracellular region p.P671H(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 ATGACTGATCCCTCTAAGAAT 0.463000 14 63 0 0 0.000566183 0 0 AXL 558 broad.mit.edu 37 19 41744418 41744418 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:41744418G>A ENST00000301178.4 + 8 1228 c.1038G>A c.(1036-1038)ggG>ggA p.G346G AXL_ENST00000359092.3_Silent_p.G346G|AXL_ENST00000593513.1_Silent_p.G78G NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 346 Fibronectin type-III 2. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 CGCGGAATGGGAGCCAGGCCT 0.667000 6 19 0 0 0.00116845 0 0 OR4K14 122740 broad.mit.edu 37 14 20483005 20483005 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:20483005C>T ENST00000305045.2 - 1 347 c.348G>A c.(346-348)ctG>ctA p.L116L NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) CCATGGAAACCAGGAGCACCA 0.463000 8 37 0 0 0.000274275 0 0 ME1 4199 broad.mit.edu 37 6 84117513 84117513 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:84117513G>A ENST00000369705.3 - 2 302 c.186C>T c.(184-186)ttC>ttT p.F62F ME1_ENST00000543031.1_Intron|ME1_ENST00000541327.1_Intron NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 62 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TCAGATGCTCGAAATTTTTTA 0.383000 18 71 0 0 0.00121646 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43535765 43535765 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:43535765G>A ENST00000430334.3 - 6 1482 c.1349C>T c.(1348-1350)cCt>cTt p.P450L PLEKHM1_ENST00000421073.2_Missense_Mutation_p.P361L|AC091132.1_ENST00000433601.1_RNA NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 450 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) CTCCCGGGAAGGCCGGTAGAA 0.483000 7 18 0 0 0.00198382 0 0 OR5P2 120065 broad.mit.edu 37 11 7817955 7817955 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:7817955G>A ENST00000329434.2 - 1 565 c.535C>T c.(535-537)Ccc>Tcc p.P179S RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCAAGTAAGGGAGCGAAATCA 0.403000 7 42 0 0 0.00198382 0 0 DACH1 1602 broad.mit.edu 37 13 72147103 72147103 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:72147103G>A ENST00000305425.4 - 4 1596 c.1174C>T c.(1174-1176)Cct>Tct p.P392S DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P444S|DACH1_ENST00000313174.7_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 442 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGGCTGACAGGAATTAGAGGG 0.438000 10 28 0 0 0.000978159 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 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) 274 79 0 0 0.000781405 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558403 106558403 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:106558403G>A ENST00000526355.1 - 8 2539 c.2071C>T c.(2071-2073)Cct>Tct p.P691S GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P722S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P712S NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 691 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CAGATCCCAGGAATTTCCTTT 0.423000 24 63 0 0 0.00047179 0 0 ECM2 1842 broad.mit.edu 37 9 95277165 95277165 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:95277165C>T ENST00000344604.5 - 4 951 c.802G>A c.(802-804)Gga>Aga p.G268R ECM2_ENST00000444490.2_Missense_Mutation_p.G246R|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 268 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 tcctccCTTCCTTGGCGTTGT 0.587000 15 83 0 0 0.000422831 0 0 FAM117B 150864 broad.mit.edu 37 2 203589651 203589651 + Silent SNP A A C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:203589651A>C ENST00000303116.6 + 3 775 c.33A>C c.(31-33)gcA>gcC p.A11A FAM117B_ENST00000392238.2_Silent_p.A255A NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 255 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 CAGAGAGTGCATGGGCTGAAG 0.368000 30 114 0 0 0.00283554 0 0 SYNE1 23345 broad.mit.edu 37 6 152832162 152832162 + Missense_Mutation SNP A A T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:152832162A>T ENST00000367255.5 - 7 987 c.386T>A c.(385-387)aTt>aAt p.I129N SYNE1_ENST00000448038.1_Missense_Mutation_p.I136N|SYNE1_ENST00000466159.2_Missense_Mutation_p.I129N|SYNE1_ENST00000423061.1_Missense_Mutation_p.I136N|SYNE1_ENST00000413186.2_Missense_Mutation_p.I129N|SYNE1_ENST00000367253.4_Missense_Mutation_p.I129N|SYNE1_ENST00000265368.4_Missense_Mutation_p.I129N|SYNE1_ENST00000367248.3_Missense_Mutation_p.I136N|SYNE1_ENST00000341594.5_Missense_Mutation_p.I129N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 129 Actin-binding.|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATATAGAATAATGGTCCACAT 0.383000 HNSCC(10;0.0054) 38 121 0 0 0.00222228 0 0 PCNXL2 80003 broad.mit.edu 37 1 233152864 233152864 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:233152864G>A ENST00000258229.8 - 27 4876 c.4642C>T c.(4642-4644)Ctc>Ttc p.L1548F PCNXL2_ENST00000344698.2_Missense_Mutation_p.L200F NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1548 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ATCCAGGAGAGGAGTTTGGGA 0.368000 20 75 0 0 0.00121646 0 0 ABHD5 51099 broad.mit.edu 37 3 43753208 43753208 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:43753208C>T ENST00000458276.2 + 4 637 c.514C>T c.(514-516)Cat>Tat p.H172Y NM_016006.4 NP_057090.2 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 172 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1) 14 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) CAGGGTTAATCATCTCATTTT 0.393000 7 47 0 0 0.00198382 0 0 KRT6A 3853 broad.mit.edu 37 12 52881593 52881593 + Missense_Mutation SNP C C A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:52881593C>A ENST00000330722.6 - 9 1674 c.1606G>T c.(1606-1608)Ggg>Tgg p.G536W NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 536 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGCCACCCCCAATGGCTCTG 0.587000 5 43 0.00198382 0.00856521 0.00198382 1 0 LBR 3930 broad.mit.edu 37 1 225591097 225591097 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:225591097G>A ENST00000338179.2 - 14 1881 c.1756C>T c.(1756-1758)Cgt>Tgt p.R586C LBR_ENST00000272163.4_Missense_Mutation_p.R586C NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 586 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) TACTCGTCACGAGCTTCTCGG 0.403000 15 40 0 0 0.000308642 0 0 CABP5 56344 broad.mit.edu 37 19 48543898 48543898 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:48543898C>T ENST00000293255.2 - 3 332 c.202G>A c.(202-204)Gaa>Aaa p.E68K NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 68 EF-hand 2. signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) TCAATCAGTTCCATCTCCGTG 0.537000 9 28 0 0 0.000673444 0 0 IGKV2D-29 28882 broad.mit.edu 37 2 89986949 89986949 + RNA SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:89986949C>T ENST00000491977.1 + 0 260 TATGAAGTTTCCAACCGGTTC 0.522000 6 28 0 0 0.000157383 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18657720 18657720 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:18657720C>T ENST00000380548.4 + 8 1257 c.918C>T c.(916-918)ttC>ttT p.F306F ADAMTSL1_ENST00000276935.6_Silent_p.F306F|ADAMTSL1_ENST00000327883.7_Silent_p.F306F|ADAMTSL1_ENST00000380566.4_Silent_p.F306F NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 306 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) AGACGGATTTCTTTCCTTGCT 0.468000 12 22 0 0 0.00244969 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702594 27702594 + Missense_Mutation SNP G G T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr10:27702594G>T ENST00000438700.3 - 1 703 c.586C>A c.(586-588)Cgc>Agc p.R196S NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 196 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GCGGAGAAGCGGTAGGAGTCG 0.607000 5 44 0.00116845 0.00505679 0.00116845 1 0 SUPT6H 6830 broad.mit.edu 37 17 27020796 27020796 + Missense_Mutation SNP T T C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:27020796T>C ENST00000314616.6 + 28 3999 c.3716T>C c.(3715-3717)tTc>tCc p.F1239S SUPT6H_ENST00000347486.4_Missense_Mutation_p.F1239S NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1239 S1 motif. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GTCACCGGCTTCATCCCCACC 0.527000 15 30 0 0 0.000422831 0 0 OSBPL2 9885 broad.mit.edu 37 20 60847231 60847231 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr20:60847231C>T ENST00000313733.3 + 5 511 c.309C>T c.(307-309)ttC>ttT p.F103F OSBPL2_ENST00000358053.2_Silent_p.F91F|OSBPL2_ENST00000439951.2_Silent_p.F11F NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 103 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) CTCTGAGCTTCTTGCAGCGGA 0.602000 7 33 0 0 0.000157383 0 0 TUBAL3 79861 broad.mit.edu 37 10 5442975 5442975 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr10:5442975C>T ENST00000380419.3 - 2 116 c.79G>A c.(79-81)Gaa>Aaa p.E27K TUBAL3_ENST00000479328.1_Intron NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 27 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 ATTCCATGTTCCAGGCAATAG 0.473000 22 30 0 0 0.00152264 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032225 46032225 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr21:46032225C>T ENST00000334662.2 + 1 230 c.208C>T c.(208-210)Ccc>Tcc p.P70S TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 70 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 TGCCCCAGCCCCCTGCCTGGC 0.657000 4 28 0 0 0.00024832 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065456 55065456 + RNA SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:55065456C>T ENST00000526016.1 - 0 252 NR_038174.2 CTTTGTCTCTCTGTGCATCCC 0.473000 5 9 0 0 0.000602214 0 0 OR2A25 392138 broad.mit.edu 37 7 143771522 143771522 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:143771522C>T ENST00000408898.2 + 1 248 c.210C>T c.(208-210)atC>atT p.I70I NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 70 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) TCGTCGACATCGCCTGTGCTT 0.572000 8 24 0 0 0.000673444 0 0 SLC26A8 116369 broad.mit.edu 37 6 35912096 35912096 + Missense_Mutation SNP T T C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:35912096T>C ENST00000490799.1 - 20 2847 c.2494A>G c.(2494-2496)Atg>Gtg p.M832V SLC26A8_ENST00000355574.2_Missense_Mutation_p.M832V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.M727V NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 832 Interaction with RACGAP1. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CTGCTGCTCATTTTATATCTT 0.388000 8 39 0 0 0.000274275 0 0 MCHR2 84539 broad.mit.edu 37 6 100390896 100390896 + Silent SNP C C T rs140465249 byFrequency TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:100390896C>T ENST00000281806.2 - 4 830 c.516G>A c.(514-516)tcG>tcA p.S172S MCHR2_ENST00000369212.1_Silent_p.S172S|MCHR2_ENST00000445970.1_Silent_p.S172S NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 172 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TGATGACCTTCGAGTAGACCC 0.448000 11 54 0 0 0.000673444 0 0 CACNA1S 779 broad.mit.edu 37 1 201052414 201052414 + Nonsense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:201052414C>T ENST00000362061.3 - 10 1495 c.1269G>A c.(1267-1269)tgG>tgA p.W423* CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.W423* NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 423 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CATGGCACTTCCAGCGAAAGA 0.557000 16 55 0 0 0.000422831 0 0 PCDH15 65217 broad.mit.edu 37 10 55582378 55582378 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr10:55582378G>A ENST00000361849.3 - 34 5508 c.5114C>T c.(5113-5115)tCa>tTa p.S1705L PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1703L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1700L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1663L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1634L|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1680L NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1703 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) ACAAGGCCTTGAAGGAGAAAG 0.383000 HNSCC(58;0.16) 4 16 0 0 0.000602214 0 0 KRT6A 3853 broad.mit.edu 37 12 52885512 52885512 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:52885512G>A ENST00000330722.6 - 2 617 c.549C>T c.(547-549)ttC>ttT p.F183F NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 183 Coil 1A.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GCTGCTCCAGGAACCGCACCT 0.542000 6 16 0 0 0.00116845 0 0 TRPV5 56302 broad.mit.edu 37 7 142612698 142612698 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:142612698C>T ENST00000265310.1 - 9 1511 c.1163G>A c.(1162-1164)gGg>gAg p.G388E NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 388 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.G388E(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CACCAGCTCCCCCACCAGCCT 0.542000 3 6 0 0 0.00024832 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20488801 20488801 + RNA SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:20488801C>T ENST00000555186.1 + 0 284 NR_038836.1 CTCATGAGAACTTTATGTGGA 0.418000 5 95 0 0 0.00198382 0 0 PTPN13 5783 broad.mit.edu 37 4 87696665 87696665 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr4:87696665C>T ENST00000436978.1 + 35 6246 c.5766C>T c.(5764-5766)tcC>tcT p.S1922S PTPN13_ENST00000411767.2_Silent_p.S1917S|PTPN13_ENST00000316707.6_Silent_p.S1726S|PTPN13_ENST00000511467.1_Silent_p.S1922S|PTPN13_ENST00000427191.2_Silent_p.S1898S NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1917 PDZ 5. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) ATCCAAGGTCCGTCGCAGCCA 0.388000 6 9 0 0 0.00116845 0 0 CD1A 909 broad.mit.edu 37 1 158226833 158226833 + Nonsense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:158226833C>T ENST00000289429.5 + 4 1395 c.862C>T c.(862-864)Cag>Tag p.Q288* NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 288 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TCTAGAGGGCCAGGACATCGT 0.582000 6 32 0 0 0.00116845 0 0 KNG1 3827 broad.mit.edu 37 3 186435389 186435389 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:186435389G>A ENST00000265023.4 + 1 270 c.58G>A c.(58-60)Gaa>Aaa p.E20K RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.E20K|KNG1_ENST00000287611.2_Missense_Mutation_p.E20K NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 20 Cystatin 1. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) TTTAACCCAGGAATCACAGTC 0.413000 12 42 0 0 0.00185496 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796684 62796684 + RNA SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:62796684G>A ENST00000582986.1 - 0 1236 NR_024386.1 GGGTTCCTCAGGCTGGTCTGA 0.682000 5 28 0 0 0.00116845 0 0 XIRP2 129446 broad.mit.edu 37 2 168105599 168105599 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:168105599C>T ENST00000409195.1 + 9 7786 c.7697C>T c.(7696-7698)tCt>tTt p.S2566F XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2566F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2344F|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2391 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAGGAGAGTTCTTACTACAAC 0.318000 21 66 0 0 0.00188189 0 0 DSG1 1828 broad.mit.edu 37 18 28934929 28934929 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr18:28934929G>A ENST00000257192.4 + 15 2982 c.2770G>A c.(2770-2772)Gaa>Aaa p.E924K RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E283K NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 924 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GGTAGTGACAGAAAGAGTAAT 0.453000 32 87 0 0 0.001512 0 0 POT1 25913 broad.mit.edu 37 7 124469351 124469351 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:124469351G>A ENST00000357628.3 - 16 2149 c.1551C>T c.(1549-1551)tcC>tcT p.S517S POT1_ENST00000393329.1_Silent_p.S386S NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 517 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 TATCAACCAGGGAATTTAGAT 0.308000 13 52 0 0 0.00185496 0 0 ACSM4 341392 broad.mit.edu 37 12 7476100 7476100 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:7476100G>A ENST00000399422.4 + 9 1300 c.1252G>A c.(1252-1254)Gaa>Aaa p.E418K NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 418 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 CAAAGAAGGGGAAATTGCCCT 0.373000 14 42 0 0 0.000308642 0 0 CA6 765 broad.mit.edu 37 1 9009336 9009336 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:9009336G>A ENST00000377443.2 + 2 98 c.94G>A c.(94-96)Gaa>Aaa p.E32K CA6_ENST00000377442.2_Intron|CA6_ENST00000319474.2_Missense_Mutation_p.E32K|CA6_ENST00000377436.3_Missense_Mutation_p.E32K|CA6_ENST00000476083.1_Intron NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 32 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GGCACTGGACGAAGCGCACTG 0.627000 6 10 0 0 0.000157383 0 0 GPR101 83550 broad.mit.edu 37 X 136112884 136112884 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:136112884C>T ENST00000298110.1 - 1 949 c.950G>A c.(949-951)aGc>aAc p.S317N NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 317 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) ACCCTCCATGCTGCCGTCGCT 0.587000 36 56 0 0 0.00148497 0 0 FBN2 2201 broad.mit.edu 37 5 127800563 127800563 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:127800563C>T ENST00000508053.1 - 12 1654 c.680G>A c.(679-681)gGg>gAg p.G227E FBN2_ENST00000262464.4_Missense_Mutation_p.G227E|FBN2_ENST00000508989.1_Missense_Mutation_p.G194E P35556 FBN2_HUMAN fibrillin 2 227 TB 1. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGTCAGCTGCCCTTGGCACAT 0.532000 15 30 0 0 0.000422831 0 0 FCRL1 115350 broad.mit.edu 37 1 157771259 157771259 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:157771259C>T ENST00000368176.3 - 6 1062 c.995G>A c.(994-996)aGa>aAa p.R332K FCRL1_ENST00000491942.1_Missense_Mutation_p.R332K|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron NM_001159398.1|NM_052938.4 NP_001152870.1|NP_443170.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 332 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACCTATTTTTCTTTTGAGGCC 0.428000 7 23 0 0 0.000157383 0 0 TREML2 79865 broad.mit.edu 37 6 41166074 41166074 + Missense_Mutation SNP A A C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:41166074A>C ENST00000483722.1 - 2 334 c.149T>G c.(148-150)gTg>gGg p.V50G NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 50 Ig-like V-type. V -> M (in dbSNP:rs35512890). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CTTGCCCTCCACGCGGTTTTT 0.552000 24 107 0 0 0.000878237 0 0 TMEM176A 55365 broad.mit.edu 37 7 150501930 150501930 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:150501930G>A ENST00000484928.1 + 7 1263 c.682G>A c.(682-684)Gaa>Aaa p.E228K TMEM176A_ENST00000004103.3_Missense_Mutation_p.E228K|TMEM176A_ENST00000461345.1_Missense_Mutation_p.E169K Q96HP8 T176A_HUMAN transmembrane protein 176A 228 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGACCAGAAGGAAATGTTGGA 0.522000 11 47 0 0 0.00185496 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780807 106780807 + RNA SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:106780807G>A ENST00000390612.2 - 0 128 GCTGCACCTGGGACAGGACCA 0.587000 9 23 0 0 0.000673444 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452068 43452068 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:43452068G>A ENST00000282388.3 - 2 1168 c.875C>T c.(874-876)tCc>tTc p.S292F THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 292 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) cgaagagcaggaggGCGGCGG 0.761000 4 14 0 0 0.00024832 0 0 ISM2 145501 broad.mit.edu 37 14 77944663 77944663 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:77944663C>T ENST00000393684.3 - 7 1247 c.856G>A c.(856-858)Gag>Aag p.E286K ISM2_ENST00000429906.1_Missense_Mutation_p.E293K|ISM2_ENST00000342219.4_Missense_Mutation_p.E374K|ISM2_ENST00000412904.1_Missense_Mutation_p.E293K|ISM2_ENST00000493585.1_Silent_p.L258L Q6H9L7 ISM2_HUMAN isthmin 2 374 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 TCCTTGTCCTCAGTGCCTTTG 0.627000 17 29 0 0 0.000566183 0 0 GNAI2 2771 broad.mit.edu 37 3 50290554 50290554 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:50290554C>T ENST00000313601.6 + 4 786 c.402C>T c.(400-402)gaC>gaT p.D134D GNAI2_ENST00000536647.1_Silent_p.D53D|GNAI2_ENST00000266027.5_Silent_p.D118D|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Silent_p.D97D|GNAI2_ENST00000422163.1_Silent_p.D118D|GNAI2_ENST00000440628.1_Silent_p.D82D NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 134 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) TCTGGGCTGACCATGGTGTGC 0.647000 16 114 0 0 0.000958276 0 0 CXorf58 254158 broad.mit.edu 37 X 23933856 23933856 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:23933856C>T ENST00000379211.3 + 4 805 c.256C>T c.(256-258)Ccc>Tcc p.P86S NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 86 p.P86A(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 GAAAGTGGCCCCCTTAGAGGC 0.353000 4 9 0 0 0.000602214 0 0 RNPEP 6051 broad.mit.edu 37 1 201970888 201970888 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:201970888C>T ENST00000295640.4 + 8 1462 c.1419C>T c.(1417-1419)atC>atT p.I473I RNPEP_ENST00000367286.3_Silent_p.I434I|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 473 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) GAGTGGATATCATTCCAGGTA 0.423000 15 69 0 0 0.00244969 0 0 ACTR10 55860 broad.mit.edu 37 14 58701160 58701160 + Missense_Mutation SNP G G C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:58701160G>C ENST00000254286.4 + 13 1225 c.1145G>C c.(1144-1146)gGc>gCc p.G382A ACTR10_ENST00000554402.1_3'UTR NM_018477.2 NP_060947.1 Q9NZ32 ARP10_HUMAN actin-related protein 10 homolog (S. cerevisiae) 382 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 13 AATCAGACGGGCCGTATACCT 0.393000 16 46 0 0 0.000422831 0 0 SULT1A2 6799 broad.mit.edu 37 16 28607162 28607162 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:28607162G>A ENST00000533150.1 - 1 1206 c.90C>T c.(88-90)ccC>ccT p.P30P SULT1A2_ENST00000335715.4_Silent_p.P30P|SULT1A2_ENST00000395630.1_Silent_p.P30P P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 30 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 AGCTCTGCAGGGGCCCCAGTG 0.637000 8 16 0 0 0.000673444 0 0 GPR176 11245 broad.mit.edu 37 15 40094226 40094226 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:40094226C>T ENST00000299092.3 - 4 850 c.652G>A c.(652-654)Gtg>Atg p.V218M GPR176_ENST00000561100.1_Missense_Mutation_p.V219M|GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000543580.1_Missense_Mutation_p.V174M NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 219 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) AACACCACCACCACAGGCACA 0.557000 OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 20 0 0 0.00116845 0 0 PARK2 5071 broad.mit.edu 37 6 161990439 161990439 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:161990439G>A ENST00000366898.1 - 8 983 c.881C>T c.(880-882)cCc>cTc p.P294L PARK2_ENST00000366897.1_Missense_Mutation_p.P266L|PARK2_ENST00000366896.1_Missense_Mutation_p.P145L|PARK2_ENST00000338468.3_Missense_Mutation_p.P103L|PARK2_ENST00000366892.1_Missense_Mutation_p.P294L|PARK2_ENST00000366894.1_Missense_Mutation_p.P103L NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 294 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CAAGGAGTTGGGACAGCCAGC 0.428000 13 44 0 0 0.00244969 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101813566 101813566 + Splice_Site SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:101813566C>T ENST00000506729.1 - 3 788 c.e3-1 SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Splice_Site Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TCGCAAATATCTTTTGAAAAT 0.308000 17 57 0 0 0.000422831 0 0 GOLGB1 2804 broad.mit.edu 37 3 121410904 121410904 + Missense_Mutation SNP T T C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:121410904T>C ENST00000393667.3 - 14 7417 c.7307A>G c.(7306-7308)aAc>aGc p.N2436S GOLGB1_ENST00000340645.5_Missense_Mutation_p.N2431S NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2431 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AGCCTTTTTGTTCTCCTCTTC 0.383000 14 71 0 0 0.000308642 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529751 5529751 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:5529751G>A ENST00000311659.4 - 2 1185 c.1038C>T c.(1036-1038)ctC>ctT p.L346L HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 346 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTAATTGCTGGAGATAGTCAT 0.493000 19 39 0 0 0.000958276 0 0 FBXO34 55030 broad.mit.edu 37 14 55818782 55818782 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:55818782C>T ENST00000313833.4 + 2 1919 c.1674C>T c.(1672-1674)ttC>ttT p.F558F FBXO34_ENST00000440021.1_Silent_p.F558F NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 558 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 CGCATGACTTCCTGGAGACCA 0.488000 15 54 0 0 0.000308642 0 0 PKP2 5318 broad.mit.edu 37 12 33031217 33031217 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:33031217G>A ENST00000340811.4 - 3 705 c.597C>T c.(595-597)atC>atT p.I199I PKP2_ENST00000070846.6_Silent_p.I199I NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 199 cell-cell adhesion desmosome|integral to membrane|nucleus binding p.I199I(1) NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGACCCCCACGATCTCGGAAC 0.597000 6 22 0 0 0.00116845 0 0 SHANK2 22941 broad.mit.edu 37 11 70331862 70331862 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:70331862G>A ENST00000338508.4 - 32 4538 c.4539C>T c.(4537-4539)acC>acT p.T1513T SHANK2_ENST00000449833.2_Silent_p.T917T|SHANK2_ENST00000423696.2_Silent_p.T1133T|SHANK2_ENST00000409161.1_Silent_p.T916T Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1133 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGCTAGACACGGTGGAGATAG 0.577000 6 28 0 0 0.00116845 0 0 BRINP2 57795 broad.mit.edu 37 1 177250323 177250323 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:177250323C>T ENST00000361539.4 + 8 2323 c.2011C>T c.(2011-2013)Ccc>Tcc p.P671S FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 671 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GATGACTGATCCCTCTAAGAA 0.458000 14 63 0 0 0.000566183 0 0 SELM 140606 broad.mit.edu 37 22 31501034 31501034 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr22:31501034G>A ENST00000402395.1 - 7 777 c.360C>T c.(358-360)ccC>ccT p.P120P RP3-412A9.11_ENST00000465536.1_5'UTR|RP3-412A9.11_ENST00000400299.2_Silent_p.P120P CCTGCGCGTCGGGCGCCGCCT 0.692000 8 17 0 0 0.000157383 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54917697 54917697 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:54917697C>T ENST00000293373.6 + 20 2192 c.2113C>T c.(2113-2115)Cct>Tct p.P705S NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P655S NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 705 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 TACTATCTTCCCTTCTGAGTA 0.443000 14 43 0 0 0.000308642 0 0 OR8K3 219473 broad.mit.edu 37 11 56086125 56086125 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:56086125C>T ENST00000312711.1 + 1 343 c.343C>T c.(343-345)Ctc>Ttc p.L115F NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) ACTTTTTATTCTCTCAGCCAT 0.388000 18 57 0 0 0.000566183 0 0 ZHX2 22882 broad.mit.edu 37 8 123965415 123965415 + Silent SNP C C T rs145887684 byFrequency TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:123965415C>T ENST00000314393.4 + 3 2500 c.1665C>T c.(1663-1665)acC>acT p.T555T NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 555 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CTTTTCCTACCCAAGCAGAAC 0.498000 9 33 0 0 0.000673444 0 0 ASPM 259266 broad.mit.edu 37 1 197070021 197070021 + Missense_Mutation SNP A A G rs111685217 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:197070021A>G ENST00000367409.4 - 18 8616 c.8360T>C c.(8359-8361)gTt>gCt p.V2787A ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2787 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTCACTTTGAACAGCTTCATA 0.393000 23 82 0 0 0.00047179 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38205261 38205261 + Silent SNP C C A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:38205261C>A ENST00000317025.8 - 2 946 c.429G>T c.(427-429)gtG>gtT p.V143V WHSC1L1_ENST00000433384.2_Silent_p.V143V|WHSC1L1_ENST00000316985.3_Silent_p.V143V|WHSC1L1_ENST00000527502.1_Silent_p.V143V NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 143 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TCTTTGGAATCACAGTTTGTG 0.413000 T NUP98 AML 16 79 5.35267e-07 2.32758e-06 0.000958276 1 0 OR56A3 390083 broad.mit.edu 37 11 5969480 5969480 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:5969480G>A ENST00000329564.6 + 1 911 c.904G>A c.(904-906)Gaa>Aaa p.E302K NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGAACCCAAGAAATTAAGCA 0.413000 9 29 0 0 0.000274275 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62611258 62611258 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:62611258G>A ENST00000281156.4 - 5 780 c.502C>T c.(502-504)Cgt>Tgt p.R168C NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TGTTCCTGACGAATTTCATCA 0.403000 11 39 0 0 0.00136819 0 0 VPS39 23339 broad.mit.edu 37 15 42453930 42453930 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:42453930G>A ENST00000318006.5 - 24 2664 c.2502C>T c.(2500-2502)atC>atT p.I834I VPS39_ENST00000348544.4_Silent_p.I845I NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 845 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) CCTCTGTGATGATGCACTTCA 0.522000 31 116 0 0 0.00058488 0 0 TLL1 7092 broad.mit.edu 37 4 166996152 166996152 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr4:166996152G>A ENST00000061240.2 + 17 2958 c.2311G>A c.(2311-2313)Gaa>Aaa p.E771K TLL1_ENST00000507499.1_Missense_Mutation_p.E794K NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 771 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGATTGCAAGGAAGGTATGGA 0.398000 14 44 0 0 0.000566183 0 0 IKZF3 22806 broad.mit.edu 37 17 37922110 37922110 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:37922110C>T ENST00000346872.3 - 8 1524 c.1463G>A c.(1462-1464)cGa>cAa p.R488Q IKZF3_ENST00000377958.2_Missense_Mutation_p.R401Q|IKZF3_ENST00000535189.1_Missense_Mutation_p.R454Q|IKZF3_ENST00000583368.1_Missense_Mutation_p.R241Q|IKZF3_ENST00000377952.2_Missense_Mutation_p.R267Q|IKZF3_ENST00000351680.3_Missense_Mutation_p.R449Q|IKZF3_ENST00000394189.2_Missense_Mutation_p.R306Q|IKZF3_ENST00000377945.3_Missense_Mutation_p.R354Q|IKZF3_ENST00000350532.3_Missense_Mutation_p.R449Q|IKZF3_ENST00000346243.3_Missense_Mutation_p.R410Q|IKZF3_ENST00000467757.1_Missense_Mutation_p.R432Q|IKZF3_ENST00000439016.2_Missense_Mutation_p.R393Q|IKZF3_ENST00000439167.2_Missense_Mutation_p.R415Q|IKZF3_ENST00000377944.3_Missense_Mutation_p.R345Q NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 488 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) ATCATGGCTTCGATATCCACA 0.512000 18 60 0 0 0.000958276 0 0 PLK1 5347 broad.mit.edu 37 16 23695351 23695351 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:23695351C>T ENST00000300093.4 + 5 1088 c.977C>T c.(976-978)tCg>tTg p.S326L NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 326 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding p.S326L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) CCAAGGTTTTCGATTGCTCCC 0.547000 24 77 0 0 0.00178596 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40839796 40839796 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:40839796C>T ENST00000264638.4 + 8 1320 c.1103C>T c.(1102-1104)cCt>cTt p.P368L CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 368 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TTCGGAGGCCCTCACAACTTC 0.607000 7 29 0 0 0.000274275 0 0 DNAH5 1767 broad.mit.edu 37 5 13814881 13814881 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:13814881C>T ENST00000265104.4 - 43 7167 c.7063G>A c.(7063-7065)Gat>Aat p.D2355N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2355 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTTTTGTTATCATCCAAAACA 0.418000 Kartagener syndrome 19 38 0 0 0.00121646 0 0 AQP1 358 broad.mit.edu 37 7 30961812 30961812 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:30961812C>T ENST00000311813.4 + 2 571 c.516C>T c.(514-516)atC>atT p.I172I AQP1_ENST00000409899.1_Silent_p.I57I|AQP1_ENST00000434909.2_Silent_p.I232I|AQP1_ENST00000409611.1_Silent_p.I121I|AQP1_ENST00000509504.1_Silent_p.I349I|AQP1_ENST00000441328.2_Silent_p.I89I|AQP1_ENST00000482461.1_3'UTR NM_198098.2 NP_932766.1 aquaporin 1 kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) CCCTTGCCATCGGCCTCTCTG 0.682000 4 10 0 0 0.00024832 0 0 OSMR 9180 broad.mit.edu 37 5 38919026 38919026 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:38919026C>T ENST00000274276.3 + 11 1849 c.1447C>T c.(1447-1449)Ctc>Ttc p.L483F NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 483 Fibronectin type-III 2. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CAGTTCAGAGCTCCATTCCAT 0.423000 10 27 0 0 0.000673444 0 0 SRCAP 10847 broad.mit.edu 37 16 30731619 30731619 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:30731619C>T ENST00000262518.4 + 19 3339 c.2954C>T c.(2953-2955)cCc>cTc p.P985L SRCAP_ENST00000395059.2_Missense_Mutation_p.P985L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P985L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 985 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) GACCCCCCACCCCGGCCCAAG 0.572000 27 82 0 0 0.00283554 0 0 FAM117B 150864 broad.mit.edu 37 2 203589649 203589649 + Missense_Mutation SNP G G C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:203589649G>C ENST00000303116.6 + 3 773 c.31G>C c.(31-33)Gca>Cca p.A11P FAM117B_ENST00000392238.2_Missense_Mutation_p.A255P NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 255 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 GACAGAGAGTGCATGGGCTGA 0.368000 30 111 0 0 0.00283554 0 0 THSD7A 221981 broad.mit.edu 37 7 11676536 11676536 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:11676536C>T ENST00000423059.3 - 2 494 c.243G>A c.(241-243)acG>acA p.T81T THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 81 TSP type-1 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACACAGCCCTCGTTTGGATGC 0.458000 HNSCC(18;0.044) 10 51 0 0 0.00136819 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66988913 66988913 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:66988913C>T ENST00000276570.5 + 4 425 c.138C>T c.(136-138)caC>caT p.H46H DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 46 J. protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) CCCTGAAACACCATCCAGACA 0.378000 18 80 0 0 0.00121646 0 0 INO80 54617 broad.mit.edu 37 15 41275119 41275119 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:41275119G>A ENST00000361937.3 - 35 4818 c.4394C>T c.(4393-4395)gCc>gTc p.A1465V INO80_ENST00000401393.3_Missense_Mutation_p.A1465V Q9ULG1 INO80_HUMAN INO80 complex subunit 1465 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGCAGCCCCGGCTTTGGCTCC 0.622000 25 51 0 0 0.000878237 0 0 MAP2K7 5609 broad.mit.edu 37 19 7975960 7975960 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:7975960C>T ENST00000545011.1 + 7 962 c.897C>T c.(895-897)atC>atT p.I299I MAP2K7_ENST00000397981.3_Silent_p.I257I|MAP2K7_ENST00000397983.3_Silent_p.I273I|MAP2K7_ENST00000397979.3_Silent_p.I257I O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 257 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) GGGGCCAGATCAAGCTCTGCG 0.642000 5 12 0 0 0.00198382 0 0 LRP6 4040 broad.mit.edu 37 12 12279645 12279645 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:12279645G>A ENST00000261349.4 - 20 4368 c.4292C>T c.(4291-4293)tCt>tTt p.S1431F LRP6_ENST00000540415.1_Intron|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.S1386F NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1431 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TCCTGACAAAGAACTTGGGTG 0.453000 44 166 0 0 0.000781405 0 0 DUOX2 50506 broad.mit.edu 37 15 45392980 45392980 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:45392980G>A ENST00000389039.6 - 23 3363 c.2978C>T c.(2977-2979)cCt>cTt p.P993L DUOX2_ENST00000603300.1_Missense_Mutation_p.P993L Q9NRD8 DUOX2_HUMAN dual oxidase 2 993 Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTTCAGTCCAGGGCCTCCCAG 0.592000 6 46 0 0 0.000157383 0 0 OR2J3 442186 broad.mit.edu 37 6 29080214 29080214 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:29080214G>A ENST00000377169.1 + 1 547 c.547G>A c.(547-549)Gaa>Aaa p.E183K NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 CTTTTTCTGTGAAGTTCCAGC 0.463000 12 37 0 0 0.00136819 0 0 CLPX 10845 broad.mit.edu 37 15 65456425 65456425 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:65456425G>A ENST00000300107.3 - 5 803 c.615C>T c.(613-615)atC>atT p.I205I NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 205 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 GATTAGCTGGGATATTATTAT 0.368000 34 76 0 0 0.00170553 0 0 VEGFA 7422 broad.mit.edu 37 6 43746213 43746213 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:43746213C>T ENST00000372067.3 + 4 1366 c.872C>T c.(871-873)cCt>cTt p.P291L VEGFA_ENST00000482630.2_Missense_Mutation_p.P291L|VEGFA_ENST00000523873.1_Missense_Mutation_p.P111L|VEGFA_ENST00000417285.2_Missense_Mutation_p.P291L|VEGFA_ENST00000372077.4_Missense_Mutation_p.P111L|VEGFA_ENST00000425836.2_Missense_Mutation_p.P291L|VEGFA_ENST00000523125.1_Missense_Mutation_p.P111L|VEGFA_ENST00000520948.1_Missense_Mutation_p.P111L|VEGFA_ENST00000523950.1_Missense_Mutation_p.P111L|VEGFA_ENST00000518689.1_Missense_Mutation_p.P111L|VEGFA_ENST00000372055.4_Missense_Mutation_p.P291L|VEGFA_ENST00000324450.6_Missense_Mutation_p.P291L|VEGFA_ENST00000372064.4_Missense_Mutation_p.P291L|VEGFA_ENST00000518824.1_Missense_Mutation_p.P111L|VEGFA_ENST00000457104.2_Missense_Mutation_p.P111L|VEGFA_ENST00000413642.3_Missense_Mutation_p.P291L|VEGFA_ENST00000230480.6_Missense_Mutation_p.P83L NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5 NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4 P15692 VEGFA_HUMAN vascular endothelial growth factor A 111 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) CGGATCAAACCTCACCAAGGC 0.517000 4 12 0 0 0.000602214 0 0 BRINP1 1620 broad.mit.edu 37 9 121929936 121929936 + Missense_Mutation SNP T T C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:121929936T>C ENST00000265922.3 - 8 2173 c.1712A>G c.(1711-1713)cAt>cGt p.H571R DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 571 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCCCTCCGAATGGCTCCCGCT 0.552000 12 16 0 0 0.00136819 0 0 MARCO 8685 broad.mit.edu 37 2 119739012 119739012 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:119739012G>A ENST00000541757.1 + 10 940 c.560G>A c.(559-561)gGa>gAa p.G187E MARCO_ENST00000327097.4_Missense_Mutation_p.G265E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 265 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 GGCATGAAAGGAGATGCAGGG 0.562000 5 9 0 0 0.00198382 0 0 MUC6 4588 broad.mit.edu 37 11 1021237 1021237 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:1021237C>T ENST00000421673.2 - 27 3617 c.3567G>A c.(3565-3567)gaG>gaA p.E1189E NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1189 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACACCCCCTCCTCGTGGTCGA 0.627000 3 6 0 0 0.00024832 0 0 TUBE1 51175 broad.mit.edu 37 6 112393144 112393144 + Missense_Mutation SNP C C A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:112393144C>A ENST00000368662.5 - 11 1308 c.1230G>T c.(1228-1230)atG>atT p.M410I TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 410 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) CTTTCAGTTCCATGAAGGTGG 0.393000 17 43 3.32936e-07 1.45122e-06 0.00074312 1 0 SYCP2L 221711 broad.mit.edu 37 6 10898272 10898272 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:10898272G>A ENST00000283141.6 + 5 661 c.365G>A c.(364-366)gGa>gAa p.G122E RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 122 nucleus p.G122E(1) breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) AGAACAACAGGAATTCTGACC 0.418000 17 35 0 0 0.00074312 0 0 MYO16 23026 broad.mit.edu 37 13 109661278 109661278 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:109661278C>T ENST00000356711.2 + 22 2536 c.2410C>T c.(2410-2412)Cac>Tac p.H804Y MYO16_ENST00000457511.2_Missense_Mutation_p.H316Y|MYO16_ENST00000251041.5_Missense_Mutation_p.H804Y|MYO16_ENST00000357550.2_Missense_Mutation_p.H804Y NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 804 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GAAGATGCACCACTATATCAA 0.403000 10 29 0 0 0.000673444 0 0 OR4N5 390437 broad.mit.edu 37 14 20612776 20612776 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:20612776G>A ENST00000333629.1 + 1 882 c.882G>A c.(880-882)gtG>gtA p.V294V NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ACCAGGAGGTGAAAGCTTCCA 0.403000 16 51 0 0 0.000566183 0 0 GPR112 139378 broad.mit.edu 37 X 135498645 135498645 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:135498645C>T ENST00000394143.1 + 26 9529 c.9238C>T c.(9238-9240)Cct>Tct p.P3080S GPR112_ENST00000412101.1_Missense_Mutation_p.P2875S|GPR112_ENST00000394141.1_Missense_Mutation_p.P2875S|GPR112_ENST00000370652.1_Missense_Mutation_p.P3080S|GPR112_ENST00000287534.4_Intron NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 3080 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTGTTCCTCTCCTTGATTTGT 0.368000 13 19 0 0 0.000422831 0 0 CD163 9332 broad.mit.edu 37 12 7640024 7640024 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:7640024C>T ENST00000359156.4 - 8 2183 c.1981G>A c.(1981-1983)Gat>Aat p.D661N CD163_ENST00000541972.1_Missense_Mutation_p.D649N|CD163_ENST00000432237.2_Missense_Mutation_p.D661N|CD163_ENST00000396620.3_Missense_Mutation_p.D694N NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 661 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 ACAGGACAATCTCCCATGTGC 0.507000 14 40 0 0 0.00244969 0 0 ITGAE 3682 broad.mit.edu 37 17 3657180 3657180 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:3657180G>A ENST00000263087.4 - 13 1522 c.1424C>T c.(1423-1425)tCc>tTc p.S475F NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 475 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CGCGATGTAGGAGAGGCTGCA 0.627000 7 25 0 0 0.00198382 0 0 OR2M7 391196 broad.mit.edu 37 1 248487835 248487835 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:248487835G>A ENST00000317965.2 - 1 64 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCAGGAGGAGGAAGTCAGAGT 0.458000 29 131 0 0 0.00283554 0 0 ITIH2 3698 broad.mit.edu 37 10 7751049 7751049 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr10:7751049C>T ENST00000358415.4 + 4 423 c.257C>T c.(256-258)gCc>gTc p.A86V ITIH2_ENST00000480387.1_Intron|ITIH2_ENST00000379587.4_Missense_Mutation_p.A75V NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 86 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCTCGGATGGCCACCACCATG 0.428000 11 31 0 0 0.000673444 0 0 GPR119 139760 broad.mit.edu 37 X 129518464 129518464 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:129518464C>T ENST00000276218.2 - 1 1047 c.958G>A c.(958-960)Gaa>Aaa p.E320K NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 320 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 CAGGAACTTTCCCTGGGCCTC 0.542000 17 21 0 0 0.00121646 0 0 PLXNB2 23654 broad.mit.edu 37 22 50719920 50719920 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr22:50719920G>A ENST00000449103.1 - 22 3671 c.3531C>T c.(3529-3531)ttC>ttT p.F1177F PLXNB2_ENST00000359337.4_Silent_p.F1177F O15031 PLXB2_HUMAN plexin B2 1177 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGCGAGAGCCGAACTTCACCT 0.687000 7 23 0 0 0.00198382 0 0 OR5D13 390142 broad.mit.edu 37 11 55540913 55540913 + Splice_Site SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:55540913C>T ENST00000361760.1 + 1 0 c.e1-1 NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) CAACAAGTATCATGATGGCAT 0.373000 13 48 0 0 0.00136819 0 0 DCTN4 51164 broad.mit.edu 37 5 150090912 150090912 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:150090912G>A ENST00000447998.2 - 13 1297 c.1182C>T c.(1180-1182)ttC>ttT p.F394F DCTN4_ENST00000446090.2_Silent_p.F401F|DCTN4_ENST00000424236.1_Silent_p.F337F NM_016221.3 NP_057305.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) 394 centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGCCTTTCTGAAGGCTATAA 0.373000 16 24 0 0 0.000308642 0 0 LNX2 222484 broad.mit.edu 37 13 28127488 28127488 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:28127488G>A ENST00000316334.3 - 8 1764 c.1635C>T c.(1633-1635)tcC>tcT p.S545S NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 545 PDZ 3. zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) CAACAGCAGGGGACGCGGCAC 0.488000 11 54 0 0 0.00136819 0 0 RHOQ 23433 broad.mit.edu 37 2 46770907 46770907 + Missense_Mutation SNP G G C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:46770907G>C ENST00000238738.4 + 2 476 c.157G>C c.(157-159)Ggg>Cgg p.G53R RHOQ_ENST00000465198.1_Intron NM_012249.3 NP_036381.2 P17081 RHOQ_HUMAN ras homolog family member Q 53 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CGTCACCGTGGGGGGCAAGCA 0.642000 3 10 0 0 0.00024832 0 0 ITGBL1 9358 broad.mit.edu 37 13 102359193 102359193 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:102359193C>T ENST00000376180.3 + 9 1439 c.1220C>T c.(1219-1221)aCg>aTg p.T407M ITGBL1_ENST00000545560.2_Missense_Mutation_p.T266M|ITGBL1_ENST00000376162.3_Missense_Mutation_p.T314M NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 407 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity p.T407M(1) breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGTAACATGACGGAAGAACAA 0.517000 8 70 0 0 0.000274275 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187703815 187703815 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:187703815C>T ENST00000295131.2 - 4 404 c.365G>A c.(364-366)gGa>gAa p.G122E NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 122 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GTCATTTGTTCCTGGTTGGGG 0.403000 32 99 0 0 0.00209593 0 0 FLT1 2321 broad.mit.edu 37 13 29004206 29004206 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:29004206G>A ENST00000282397.4 - 8 1338 c.1087C>T c.(1087-1089)Ccc>Tcc p.P363S FLT1_ENST00000539099.1_Missense_Mutation_p.P363S|FLT1_ENST00000541932.1_Missense_Mutation_p.P363S NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 363 Ig-like C2-type 4. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TCCGGCGAGGGAAATGCCTTC 0.448000 21 59 0 0 0.00047179 0 0 CDH8 1006 broad.mit.edu 37 16 61761011 61761011 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:61761011C>T ENST00000577390.1 - 9 2477 c.1523G>A c.(1522-1524)gGa>gAa p.G508E CDH8_ENST00000584337.1_Missense_Mutation_p.G508E|CDH8_ENST00000577730.1_Missense_Mutation_p.G508E|CDH8_ENST00000299345.6_Missense_Mutation_p.G508E NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 508 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCCGGGTTTTCCATTTTCACA 0.378000 10 42 0 0 0.00136819 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805643 20805643 + RNA SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:20805643G>A ENST00000577537.1 + 0 827 RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA AGACGACGACGAAGTCTCCCA 0.557000 9 39 0 0 0.000274275 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148080748 148080748 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:148080748G>A ENST00000361727.3 + 22 3999 c.3483G>A c.(3481-3483)ggG>ggA p.G1161G CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.G220G NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1161 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TAGAAACAGGGAAAATTGACC 0.433000 HNSCC(39;0.1) 10 26 0 0 0.000978159 0 0 OR4N4 283694 broad.mit.edu 37 15 22382594 22382594 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:22382594G>A ENST00000328795.4 + 1 213 c.122G>A c.(121-123)gGa>gAa p.G41E RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTCCCTGGAAATTTTCTC 0.443000 21 264 0 0 0.00188189 0 0 SPEG 10290 broad.mit.edu 37 2 220333434 220333434 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:220333434C>T ENST00000312358.7 + 11 3409 c.3277C>T c.(3277-3279)Cct>Tct p.P1093S SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1093 Ig-like 5. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CACCCCGCCCCCTGTTGTTAC 0.657000 6 27 0 0 0.00198382 0 0 DSCAM 1826 broad.mit.edu 37 21 41414514 41414514 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr21:41414514C>T ENST00000400454.1 - 32 5947 c.5470G>A c.(5470-5472)Gaa>Aaa p.E1824K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1824 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) AGTTGCTCTTCCATCTTGGCG 0.537000 11 33 0 0 0.000978159 0 0 ERCC1 2067 broad.mit.edu 37 19 45924602 45924602 + Missense_Mutation SNP G G A rs149666093 byFrequency TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:45924602G>A ENST00000300853.3 - 3 746 c.155C>T c.(154-156)tCg>tTg p.S52L ERCC1_ENST00000340192.7_Missense_Mutation_p.S52L|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000591636.1_Missense_Mutation_p.S52L|ERCC1_ENST00000589165.1_Missense_Mutation_p.S52L|ERCC1_ENST00000013807.5_Missense_Mutation_p.S52L NM_001983.3 NP_001974.1 P07992 ERCC1_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) 52 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1) 15 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) CGCCTGGGCCGAGGTGTCCAC 0.637000 Nucleotide excision repair (NER) 9 20 0 0 0.000673444 0 0 PDE8B 8622 broad.mit.edu 37 5 76633115 76633115 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:76633115G>A ENST00000264917.5 + 6 817 c.772G>A c.(772-774)Gaa>Aaa p.E258K PDE8B_ENST00000346042.3_Missense_Mutation_p.E258K|PDE8B_ENST00000340978.3_Missense_Mutation_p.E258K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E258K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E238K NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 258 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) AGAACATGGGGAAGTTCGCTC 0.333000 40 187 0 0 0.000781405 0 0 C6 729 broad.mit.edu 37 5 41186273 41186273 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:41186273G>A ENST00000263413.3 - 6 889 c.625C>T c.(625-627)Ctt>Ttt p.L209F C6_ENST00000337836.5_Missense_Mutation_p.L209F|C6_ENST00000475349.1_Intron NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 209 MACPF. 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) GAGTTATCAAGGACTTCTCCT 0.388000 4 29 0 0 0.000602214 0 0 AJAP1 55966 broad.mit.edu 37 1 4832501 4832501 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:4832501G>A ENST00000378191.4 + 4 1460 c.1079G>A c.(1078-1080)tGc>tAc p.C360Y AJAP1_ENST00000378190.3_Missense_Mutation_p.C360Y NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 360 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TCTCACGAGTGCGTCAGGGCA 0.592000 6 6 0 0 0.00116845 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324854 150324854 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:150324854C>T ENST00000328902.5 - 3 1048 c.832G>A c.(832-834)Gaa>Aaa p.E278K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 278 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCTCAGATTCCTTCTGGATC 0.572000 9 36 0 0 0.00136819 0 0 ZNF664 144348 broad.mit.edu 37 12 124496840 124496840 + Nonsense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:124496840G>A ENST00000539644.1 + 6 1979 c.149G>A c.(148-150)tGg>tAg p.W50* ZNF664_ENST00000392404.3_Nonsense_Mutation_p.W50*|ZNF664_ENST00000337815.4_Nonsense_Mutation_p.W50*|ZNF664_ENST00000538932.2_Nonsense_Mutation_p.W50*|RP11-522N14.1_ENST00000540762.1_RNA Q8N3J9 ZN664_HUMAN zinc finger protein 664 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) CATATTCATTGGAGAGACCAT 0.353000 8 81 0 0 0.000157383 0 0 CNBD2 140894 broad.mit.edu 37 20 34572599 34572599 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr20:34572599G>A ENST00000373973.3 + 6 788 c.615G>A c.(613-615)atG>atA p.M205I CNBD2_ENST00000538900.1_Missense_Mutation_p.M205I|CNBD2_ENST00000349339.1_Missense_Mutation_p.M205I cyclic nucleotide binding domain containing 2 TCGTCTGTATGGAAGAAACGG 0.502000 9 34 0 0 0.000442599 0 0 GRM7 2917 broad.mit.edu 37 3 7721964 7721964 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:7721964G>A ENST00000486284.1 + 9 2954 c.2680G>A c.(2680-2682)Gaa>Aaa p.E894K GRM7_ENST00000389336.4_Missense_Mutation_p.E894K|GRM7_ENST00000402647.2_Missense_Mutation_p.E894K|GRM7_ENST00000403881.1_Missense_Mutation_p.E894K|GRM7_ENST00000357716.4_Missense_Mutation_p.E894K NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 894 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CGAGCTCTGTGAAAACGTAGA 0.527000 5 20 0 0 0.000602214 0 0 ITGA8 8516 broad.mit.edu 37 10 15639291 15639291 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr10:15639291C>T ENST00000378076.3 - 21 2479 c.2126G>A c.(2125-2127)cGa>cAa p.R709Q ITGA8_ENST00000477064.1_5'UTR NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 709 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GCTCAGTGGTCGAAATCCCTA 0.502000 10 28 0 0 0.000978159 0 0 NRXN1 9378 broad.mit.edu 37 2 50724774 50724774 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:50724774G>A ENST00000404971.1 - 15 4035 c.2696C>T c.(2695-2697)tCt>tTt p.S899F NRXN1_ENST00000406316.2_Missense_Mutation_p.S859F|NRXN1_ENST00000405472.3_Missense_Mutation_p.S851F|NRXN1_ENST00000406859.3_Missense_Mutation_p.S859F|NRXN1_ENST00000402717.3_Missense_Mutation_p.S851F|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.S859F NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 859 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGGGACAGAAGAAAGATACCG 0.418000 8 25 0 0 0.000274275 0 0 EIF2D 1939 broad.mit.edu 37 1 206770521 206770521 + Silent SNP T T C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:206770521T>C ENST00000271764.2 - 12 1525 c.1317A>G c.(1315-1317)ctA>ctG p.L439L EIF2D_ENST00000367114.3_Silent_p.L315L NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 439 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 TGCAGTCACATAGGATGGGAT 0.448000 7 27 0 0 0.000274275 0 0 SUPT6H 6830 broad.mit.edu 37 17 27020797 27020797 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:27020797C>T ENST00000314616.6 + 28 4000 c.3717C>T c.(3715-3717)ttC>ttT p.F1239F SUPT6H_ENST00000347486.4_Silent_p.F1239F NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1239 S1 motif. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCACCGGCTTCATCCCCACCA 0.527000 15 30 0 0 0.000422831 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296076 233296076 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:233296076G>A ENST00000258229.8 - 19 3704 c.3470C>T c.(3469-3471)tCa>tTa p.S1157L PCNXL2_ENST00000488780.2_Missense_Mutation_p.S290L|PCNXL2_ENST00000520463.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1157 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AATGGGGTGTGAAATCCACAT 0.443000 10 45 0 0 0.00136819 0 0 CASR 846 broad.mit.edu 37 3 122002676 122002676 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:122002676C>T ENST00000498619.1 + 7 2343 c.1905C>T c.(1903-1905)ttC>ttT p.F635F CASR_ENST00000296154.5_Silent_p.F625F|CASR_ENST00000490131.1_Silent_p.F625F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 625 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGGGCATTTTCCTGACAGCCT 0.552000 10 32 0 0 0.000673444 0 0 RGS22 26166 broad.mit.edu 37 8 101014533 101014533 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:101014533C>T ENST00000360863.6 - 18 2881 c.2687G>A c.(2686-2688)cGa>cAa p.R896Q RGS22_ENST00000523287.1_Missense_Mutation_p.R715Q|RGS22_ENST00000523437.1_Missense_Mutation_p.R884Q NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 896 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CCTTTGATTTCGATCTCTGTA 0.338000 5 32 0 0 0.000602214 0 0 ABCA13 154664 broad.mit.edu 37 7 48259057 48259057 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:48259057G>A ENST00000435803.1 + 4 418 c.394G>A c.(394-396)Gca>Aca p.A132T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 132 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GATGGACAAGGCAAAAAACTT 0.428000 13 66 0 0 0.00244969 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576270 158576270 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:158576270C>T ENST00000361284.1 + 1 42 c.42C>T c.(40-42)ttC>ttT p.F14F NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) ATTTTGTCTTCCTGGGCTTCT 0.473000 13 52 0 0 0.00185496 0 0 COX6A1 1337 broad.mit.edu 37 12 120875936 120875936 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:120875936G>A ENST00000229379.2 + 1 44 c.7G>A c.(7-9)Gta>Ata p.V3I NM_004373.3 NP_004364.2 P12074 CX6A1_HUMAN cytochrome c oxidase subunit VIa polypeptide 1 3 respiratory electron transport chain mitochondrial respiratory chain complex IV cytochrome-c oxidase activity all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAAAATGGCGGTAGTTGGTGT 0.612000 4 13 0 0 0.000602214 0 0 OBSCN 84033 broad.mit.edu 37 1 228400271 228400271 + Missense_Mutation SNP G G C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:228400271G>C ENST00000570156.2 + 2 861 c.787G>C c.(787-789)Ggc>Cgc p.G263R C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.G263R|OBSCN_ENST00000422127.1_Missense_Mutation_p.G263R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 263 Ig-like 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTACGTGACCGGCGAGCCCAA 0.706000 4 51 0 0 0.000602214 0 0 SLC18A1 6570 broad.mit.edu 37 8 20031896 20031896 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:20031896C>T ENST00000440926.1 - 6 1077 c.607G>A c.(607-609)Gga>Aga p.G203R SLC18A1_ENST00000437980.1_Missense_Mutation_p.G203R|SLC18A1_ENST00000265808.7_Missense_Mutation_p.G203R|SLC18A1_ENST00000519026.1_Missense_Mutation_p.G203R|SLC18A1_ENST00000276373.5_Missense_Mutation_p.G203R|SLC18A1_ENST00000381608.4_Missense_Mutation_p.G203R|SLC18A1_ENST00000524272.1_5'UTR NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 203 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) AATGAAGATCCAATGCCTTGA 0.448000 4 37 0 0 0.00116845 0 0 ADCY7 113 broad.mit.edu 37 16 50342697 50342697 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:50342697C>T ENST00000394697.2 + 17 2395 c.2055C>T c.(2053-2055)atC>atT p.I685I ADCY7_ENST00000254235.3_Silent_p.I685I|ADCY7_ENST00000566433.2_Silent_p.I685I|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.I685I P51828 ADCY7_HUMAN adenylate cyclase 7 685 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TGGCCATCATCAACCTGGTGG 0.622000 6 23 0 0 0.00198382 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496630 20496630 + RNA SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:20496630G>A ENST00000555186.1 + 0 683 NR_038836.1 TCATGAAGGGGAAGCCGAGGG 0.438000 5 75 0 0 0.000602214 0 0 IGSF9 57549 broad.mit.edu 37 1 159907562 159907562 + Nonsense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:159907562C>T ENST00000368094.1 - 4 511 c.314G>A c.(313-315)tGg>tAg p.W105* IGSF9_ENST00000361509.3_Nonsense_Mutation_p.W105* NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 105 Ig-like 1. 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) GCACTCGTACCAGCCCTGGTC 0.592000 7 32 0 0 0.00198382 0 0 OR2K2 26248 broad.mit.edu 37 9 114089805 114089805 + Missense_Mutation SNP C C G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:114089805C>G ENST00000374428.1 - 1 995 c.996G>C c.(994-996)ttG>ttC p.L332F OR2K2_ENST00000302681.1_Missense_Mutation_p.L303F Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 332 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 TTTTGCCCAGCAATTTCTTCA 0.413000 4 28 0 0 0.00024832 0 0 FAM13A 10144 broad.mit.edu 37 4 89653209 89653209 + Missense_Mutation SNP T T A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr4:89653209T>A ENST00000264344.5 - 22 2994 c.2787A>T c.(2785-2787)aaA>aaT p.K929N FAM13A_ENST00000395002.2_Missense_Mutation_p.K575N|FAM13A_ENST00000503556.1_Missense_Mutation_p.K589N|FAM13A_ENST00000511976.1_Missense_Mutation_p.K515N|FAM13A_ENST00000508369.1_Missense_Mutation_p.K603N|FAM13A_ENST00000513837.1_Missense_Mutation_p.K575N NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 929 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 TTGATGGTATTTTATCATCCA 0.418000 12 22 0 0 0.00136819 0 0 FAM131A 131408 broad.mit.edu 37 3 184062315 184062315 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:184062315C>T ENST00000310585.4 + 3 1929 c.565C>T c.(565-567)Ctc>Ttc p.L189F FAM131A_ENST00000453072.1_Missense_Mutation_p.L135F|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Missense_Mutation_p.L97F|FAM131A_ENST00000383847.2_Missense_Mutation_p.L220F|FAM131A_ENST00000450976.1_Missense_Mutation_p.L135F|FAM131A_ENST00000340957.5_Missense_Mutation_p.L135F Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 189 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGGCCGCACCTCCAGGACCT 0.632000 14 66 0 0 0.000422831 0 0 HAUS1 115106 broad.mit.edu 37 18 43685196 43685196 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr18:43685196C>T ENST00000282058.6 + 2 147 c.67C>T c.(67-69)Cct>Tct p.P23S HAUS1_ENST00000585518.1_Missense_Mutation_p.P23S NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 23 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 TGGAGATCATCCTATTCCACA 0.403000 6 23 0 0 0.00198382 0 0 GRIA2 2891 broad.mit.edu 37 4 158242620 158242620 + Nonsense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr4:158242620C>T ENST00000296526.7 + 6 1076 c.751C>T c.(751-753)Cag>Tag p.Q251* GRIA2_ENST00000264426.9_Nonsense_Mutation_p.Q251*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.Q204*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.Q204*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.Q204* NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 251 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATTAAAAATCCAGTTTGGAGG 0.333000 17 50 0 0 0.00152264 0 0 ACACB 32 broad.mit.edu 37 12 109634839 109634839 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:109634839C>T ENST00000338432.7 + 17 2627 c.2508C>T c.(2506-2508)ttC>ttT p.F836F ACACB_ENST00000377848.3_Silent_p.F836F|ACACB_ENST00000377854.5_Silent_p.F836F O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 836 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TGACCATGTTCGTTCTCATCA 0.587000 9 9 0 0 0.000673444 0 0 MYH1 4619 broad.mit.edu 37 17 10419889 10419889 + Missense_Mutation SNP C C T rs61730792 byFrequency TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:10419889C>T ENST00000226207.5 - 3 165 c.71G>A c.(70-72)cGa>cAa p.R24Q CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 24 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.R24Q(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGCTTCAATTCGCTCCCTTTC 0.507000 18 56 0 0 0.00152264 0 0 BTNL8 79908 broad.mit.edu 37 5 180377220 180377220 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:180377220C>T ENST00000340184.4 + 8 1385 c.1179C>T c.(1177-1179)ccC>ccT p.P393P BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Silent_p.P277P|BTNL8_ENST00000400707.3_Silent_p.P268P|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Silent_p.P209P|BTNL8_ENST00000505126.1_Silent_p.P186P NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 393 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATTAAATCCCCGTTTTATCA 0.468000 11 14 0 0 0.000673444 0 0 STAB2 55576 broad.mit.edu 37 12 104092978 104092978 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:104092978C>T ENST00000388887.2 + 34 3891 c.3687C>T c.(3685-3687)ttC>ttT p.F1229F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1229 FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TCTCCTATTTCCTTAGCTTCT 0.473000 4 24 0 0 0.00024832 0 0 DDX60L 91351 broad.mit.edu 37 4 169315758 169315758 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr4:169315758C>T ENST00000511577.1 - 28 3915 c.3668G>A c.(3667-3669)aGg>aAg p.R1223K DDX60L_ENST00000505890.1_Missense_Mutation_p.R1224K|DDX60L_ENST00000260184.7_Missense_Mutation_p.R1223K Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1223 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CGGTAATACCCTCTCCAAAGT 0.358000 12 25 0 0 0.00185496 0 0 ITSN2 50618 broad.mit.edu 37 2 24533444 24533444 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:24533444G>A ENST00000355123.4 - 6 913 c.470C>T c.(469-471)cCc>cTc p.P157L ITSN2_ENST00000406921.3_Missense_Mutation_p.P157L|ITSN2_ENST00000361999.3_Missense_Mutation_p.P157L NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 157 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGCACTAGGGGAGTGGGCAT 0.463000 10 37 0 0 0.00185496 0 0 TMEM199 147007 broad.mit.edu 37 17 26688180 26688180 + Splice_Site SNP G G T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:26688180G>T ENST00000292114.3 + 6 623 c.531_splice c.e6-1 p.R178_splice CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_Splice_Site_p.R4_splice|TMEM199_ENST00000509083.1_Intron NM_152464.1 NP_689677.1 Q8N511 TM199_HUMAN transmembrane protein 199 178 integral to membrane p.R178L(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CATCTCCAGCGGGTGCTAGCT 0.582000 5 50 0.00116845 0.00505679 0.00116845 1 0 OTOP3 347741 broad.mit.edu 37 17 72937810 72937810 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:72937810C>T ENST00000328801.4 + 2 396 c.396C>T c.(394-396)tcC>tcT p.S132S NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 132 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) AGGTCCTCTCCCTGCTTTGGC 0.622000 4 29 0 0 0.000602214 0 0 ENC1 8507 broad.mit.edu 37 5 73931223 73931223 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:73931223G>A ENST00000302351.4 - 2 2218 c.1088C>T c.(1087-1089)aCc>aTc p.T363I ENC1_ENST00000537006.1_Missense_Mutation_p.T363I|ENC1_ENST00000510316.1_Missense_Mutation_p.T290I NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 363 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) CTCGTGCAGGGTATCATAAAC 0.547000 8 27 0 0 0.000157383 0 0 UMODL1 89766 broad.mit.edu 37 21 43504239 43504239 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr21:43504239C>T ENST00000400427.1 + 3 545 c.149C>T c.(148-150)cCc>cTc p.P50L UMODL1_ENST00000408910.2_Missense_Mutation_p.P122L|UMODL1_ENST00000408989.2_Missense_Mutation_p.P122L|UMODL1_ENST00000400424.1_Missense_Mutation_p.P50L NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 122 EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GGGGCCTGCCCCGCAGAGGGG 0.562000 17 48 0 0 0.000422831 0 0 MNDA 4332 broad.mit.edu 37 1 158815426 158815426 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:158815426C>T ENST00000368141.4 + 5 881 c.620C>T c.(619-621)cCc>cTc p.P207L NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 207 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AGAAATGTTCCCCAAAACGAC 0.468000 7 21 0 0 0.00198382 0 0 KLHL13 90293 broad.mit.edu 37 X 117032951 117032951 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:117032951G>A ENST00000371876.1 - 6 4156 c.1735C>T c.(1735-1737)Cgt>Tgt p.R579C KLHL13_ENST00000371878.1_Missense_Mutation_p.R579C|KLHL13_ENST00000545703.1_Missense_Mutation_p.R588C|KLHL13_ENST00000541812.1_Missense_Mutation_p.R614C|KLHL13_ENST00000371882.1_Missense_Mutation_p.R579C|KLHL13_ENST00000540167.1_Missense_Mutation_p.R614C|KLHL13_ENST00000539496.1_Missense_Mutation_p.R633C|KLHL13_ENST00000262820.3_Missense_Mutation_p.R630C|KLHL13_ENST00000469946.1_Missense_Mutation_p.R579C Q9P2N7 KLH13_HUMAN kelch-like family member 13 630 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GTGCAAGCACGAATGCCACCA 0.418000 16 19 0 0 0.00074312 0 0 ACSM5 54988 broad.mit.edu 37 16 20448487 20448487 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:20448487G>A ENST00000331849.4 + 11 1569 c.1422G>A c.(1420-1422)gtG>gtA p.V474V NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 474 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 ACGACGATGTGATCAATTCTT 0.478000 19 70 0 0 0.000720815 0 0 RGS7 6000 broad.mit.edu 37 1 240966273 240966273 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:240966273C>T ENST00000366565.1 - 16 1671 c.1290G>A c.(1288-1290)atG>atA p.M430I RGS7_ENST00000366564.1_Missense_Mutation_p.M430I|RGS7_ENST00000366562.4_Missense_Mutation_p.M430I|RGS7_ENST00000331110.7_Missense_Mutation_p.M404I|RGS7_ENST00000401882.1_Missense_Mutation_p.M377I|RGS7_ENST00000446183.2_Missense_Mutation_p.M346I|RGS7_ENST00000348120.2_Missense_Mutation_p.M377I|RGS7_ENST00000407727.1_Missense_Mutation_p.M430I|RGS7_ENST00000366563.1_Missense_Mutation_p.M430I NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 430 RGS. 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) AATCACTTTTCATCAGTTTGT 0.348000 16 92 0 0 0.000958276 0 0 ZNF674 641339 broad.mit.edu 37 X 46359367 46359367 + Missense_Mutation SNP A A G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:46359367A>G ENST00000523374.1 - 6 1867 c.1657T>C c.(1657-1659)Tat>Cat p.Y553H ZNF674_ENST00000414387.2_Missense_Mutation_p.Y547H NM_001039891.2|NM_001146291.1|NM_001190417.1 NP_001034980.1|NP_001139763.1|NP_001177346.1 Q2M3X9 ZN674_HUMAN zinc finger protein 674 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 CTGCATTCATAAGGTTTCTCT 0.398000 4 6 0 0 0.000602214 0 0 GPX6 257202 broad.mit.edu 37 6 28473580 28473580 + Splice_Site SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:28473580C>T ENST00000361902.1 - 4 409 c.e4-1 GPX6_ENST00000474923.1_Intron NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) ACACACATACCTGCAGTGAAC 0.423000 7 34 0 0 0.000442599 0 0 ABCC11 85320 broad.mit.edu 37 16 48226507 48226507 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:48226507C>T ENST00000394747.1 - 19 2979 c.2630G>A c.(2629-2631)gGg>gAg p.G877E ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.G877E|ABCC11_ENST00000356608.2_Missense_Mutation_p.G877E|ABCC11_ENST00000394748.1_Missense_Mutation_p.G877E NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 877 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GGAGCAGACCCCCACACAGAT 0.572000 9 26 0 0 0.000442599 0 0 AFF4 27125 broad.mit.edu 37 5 132238168 132238168 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:132238168G>A ENST00000265343.5 - 7 1478 c.1099C>T c.(1099-1101)Cct>Tct p.P367S AFF4_ENST00000378595.3_Missense_Mutation_p.P367S NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 367 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTTTTAGAAGGATTATATCTT 0.289000 15 30 0 0 0.00074312 0 0 HTR5A 3361 broad.mit.edu 37 7 154876080 154876080 + Nonsense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:154876080G>A ENST00000287907.2 + 2 1533 c.957G>A c.(955-957)tgG>tgA p.W319* HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 319 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CCGCCATCTGGAAAAGCATCT 0.522000 22 70 0 0 0.00229938 0 0 TRPM2 7226 broad.mit.edu 37 21 45815418 45815418 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr21:45815418G>A ENST00000397928.1 + 12 2361 c.1916G>A c.(1915-1917)gGa>gAa p.G639E TRPM2_ENST00000300482.5_Missense_Mutation_p.G639E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.G619E|TRPM2_ENST00000397932.2_Missense_Mutation_p.G639E NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 639 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GAGCTGGCAGGAATCATCTGG 0.577000 18 53 0 0 0.000958276 0 0 DMD 1756 broad.mit.edu 37 X 32509577 32509577 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:32509577G>A ENST00000357033.4 - 20 2645 c.2439C>T c.(2437-2439)atC>atT p.I813I DMD_ENST00000378677.2_Silent_p.I809I NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 813 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGCAGAATTCGATCCACCGGC 0.403000 5 10 0 0 0.000602214 0 0 MEGF10 84466 broad.mit.edu 37 5 126755745 126755745 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:126755745G>A ENST00000274473.6 + 13 1703 c.1436G>A c.(1435-1437)gGg>gAg p.G479E MEGF10_ENST00000508365.1_Missense_Mutation_p.G479E|MEGF10_ENST00000503335.2_Missense_Mutation_p.G479E|MEGF10_ENST00000418761.2_Missense_Mutation_p.G479E NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 479 EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup p.G479E(1) breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) GGCTGGCACGGGGTGGACTGC 0.572000 7 19 0 0 0.000157383 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136402628 136402628 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:136402628G>A ENST00000393061.3 + 3 951 c.519G>A c.(517-519)ggG>ggA p.G173G ADAMTSL2_ENST00000354484.4_Silent_p.G64G|ADAMTSL2_ENST00000393060.1_Silent_p.G64G Q86TH1 ATL2_HUMAN ADAMTS-like 2 64 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) GCAGTTGCGGGGGTGGGGTGA 0.677000 12 28 0 0 0.00185496 0 0 OR4C12 283093 broad.mit.edu 37 11 50003858 50003858 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:50003858G>A ENST00000335238.4 - 1 213 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F60F(1) NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 GGTGGGTCAGGAAGAAGTACA 0.408000 6 40 0 0 0.000157383 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114181 117114181 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:117114181C>T ENST00000310357.3 - 6 1926 c.1905G>A c.(1903-1905)gtG>gtA p.V635V GPRC6A_ENST00000368549.3_Silent_p.V564V|GPRC6A_ENST00000530250.1_Silent_p.V460V NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 635 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AGAGAAGGATCACATAGCAGA 0.408000 9 39 0 0 0.000274275 0 0 FOXP1 27086 broad.mit.edu 37 3 71037191 71037191 + Missense_Mutation SNP G G C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:71037191G>C ENST00000318789.4 - 14 1625 c.1100C>G c.(1099-1101)aCc>aGc p.T367S FOXP1_ENST00000475937.1_Missense_Mutation_p.T367S|FOXP1_ENST00000491238.1_Missense_Mutation_p.T369S|FOXP1_ENST00000498215.1_Missense_Mutation_p.T367S|FOXP1_ENST00000468577.1_Missense_Mutation_p.T367S|FOXP1_ENST00000484350.1_Missense_Mutation_p.T291S|FOXP1_ENST00000493089.1_Missense_Mutation_p.T367S NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 367 Leucine-zipper. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) ATGCAGGTGGGTCATCATGGC 0.438000 T PAX5 ALL 4 172 0 0 0.00116845 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3639001 3639001 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:3639001G>A ENST00000335312.3 - 16 1889 c.1801C>T c.(1801-1803)Ccg>Tcg p.P601S PIP5K1C_ENST00000539785.1_Missense_Mutation_p.P601S|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.P601S|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.P601S NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 601 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GCACCGGCCGGGGAAGCCTCC 0.692000 5 35 0 0 0.00198382 0 0 TPK1 27010 broad.mit.edu 37 7 144245645 144245645 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:144245645G>A ENST00000549981.1 - 10 924 c.201C>T c.(199-201)ggC>ggT p.G67G TPK1_ENST00000378099.3_Silent_p.G135G|TPK1_ENST00000538212.2_Silent_p.G130G|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000360057.3_Silent_p.G184G Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 184 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) CAGGAATAAGGCCACACCAAT 0.428000 22 61 0 0 0.000720815 0 0 CUX2 23316 broad.mit.edu 37 12 111748436 111748436 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:111748436C>T ENST00000261726.6 + 15 2004 c.1850C>T c.(1849-1851)tCg>tTg p.S617L NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 617 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CAGTTCCTGTCGGATGAGCAG 0.647000 6 24 0 0 0.000157383 0 0 IKBKB 3551 broad.mit.edu 37 8 42174317 42174317 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:42174317C>T ENST00000520810.1 + 11 1206 c.1020C>T c.(1018-1020)atC>atT p.I340I IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.I338I|IKBKB_ENST00000416505.2_Silent_p.I281I|IKBKB_ENST00000379708.3_Silent_p.I117I NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 340 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) AGGCCAGAATCCAACAGGACA 0.562000 6 20 0 0 0.000274275 0 0 CCAR2 57805 broad.mit.edu 37 8 22464830 22464830 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:22464830C>T ENST00000308511.4 + 6 728 c.479C>T c.(478-480)cCt>cTt p.P160L KIAA1967_ENST00000520861.1_5'UTR|KIAA1967_ENST00000389279.3_Missense_Mutation_p.P160L Q8N163 K1967_HUMAN 160 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCACTCTTTCCTCAGAAGCGT 0.542000 9 31 0 0 0.000978159 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444230 15444230 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr4:15444230G>A ENST00000295297.4 + 3 957 c.698G>A c.(697-699)gGa>gAa p.G233E C1QTNF7_ENST00000429690.1_Missense_Mutation_p.G226E|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.G226E NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 226 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 GCCAACACAGGAAACCATGAT 0.458000 17 47 0 0 0.00074312 0 0 CD1A 909 broad.mit.edu 37 1 158226832 158226832 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:158226832C>T ENST00000289429.5 + 4 1394 c.861C>T c.(859-861)ggC>ggT p.G287G NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 287 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GTCTAGAGGGCCAGGACATCG 0.587000 6 33 0 0 0.00116845 0 0 LRP2 4036 broad.mit.edu 37 2 170097627 170097627 + Missense_Mutation SNP G G C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:170097627G>C ENST00000263816.3 - 25 4201 c.3916C>G c.(3916-3918)Cct>Gct p.P1306A LRP2_ENST00000443831.1_Missense_Mutation_p.P1169A NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1306 LDL-receptor class A 14. 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) GGCTGAGTAGGGCAGTCCTTC 0.502000 17 37 0 0 0.00074312 0 0 PPFIA4 8497 broad.mit.edu 37 1 203024755 203024755 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:203024755C>T ENST00000367240.2 + 15 2489 c.1962C>T c.(1960-1962)tcC>tcT p.S654S PPFIA4_ENST00000272198.6_Silent_p.S169S|PPFIA4_ENST00000447715.2_Silent_p.S653S|PPFIA4_ENST00000414050.2_Silent_p.S382S|PPFIA4_ENST00000599966.1_Silent_p.S169S|PPFIA4_ENST00000295706.4_Silent_p.S169S O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 169 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AGCTCACCTCCCGCAGTGCTG 0.682000 5 36 0 0 0.000602214 0 0 TTN 7273 broad.mit.edu 37 2 179614337 179614337 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:179614337C>T ENST00000360870.5 - 46 13012 c.12790G>A c.(12790-12792)Gaa>Aaa p.E4264K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 415 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) CCATAAATTTCACCAATATTT 0.393000 8 35 0 0 0.000157383 0 0 DPP3 10072 broad.mit.edu 37 11 66258775 66258775 + Missense_Mutation SNP G G C TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:66258775G>C ENST00000532677.1 + 7 1177 c.776G>C c.(775-777)cGg>cCg p.R259P DPP3_ENST00000360510.2_Missense_Mutation_p.R240P|DPP3_ENST00000453114.1_Missense_Mutation_p.R240P|DPP3_ENST00000541961.1_Missense_Mutation_p.R240P|DPP3_ENST00000531863.1_Missense_Mutation_p.R260P|DPP3_ENST00000530165.1_Missense_Mutation_p.R210P NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 240 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 TATGAATTCCGGGGAAGCCCT 0.577000 OREG0021109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 54 0 0 0.000308642 0 0 OR4S2 219431 broad.mit.edu 37 11 55418737 55418737 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:55418737C>T ENST00000312422.2 + 1 358 c.358C>T c.(358-360)Cgt>Tgt p.R120C NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R120C(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) GGCCTATGATCGTTATGTGGC 0.428000 29 33 0 0 0.00127121 0 0 MYOCD 93649 broad.mit.edu 37 17 12656204 12656204 + Nonsense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:12656204G>A ENST00000425538.1 + 10 1799 c.1599G>A c.(1597-1599)tgG>tgA p.W533* MYOCD_ENST00000395988.1_Nonsense_Mutation_p.W437*|MYOCD_ENST00000343344.4_Nonsense_Mutation_p.W533* NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 533 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AACTCACCTGGAAACTCCAGC 0.537000 5 18 0 0 0.00116845 0 0 FOLH1 2346 broad.mit.edu 37 11 49179553 49179553 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:49179553C>T ENST00000340334.7 - 15 1806 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K FOLH1_ENST00000256999.2_Missense_Mutation_p.E495K|FOLH1_ENST00000343844.4_Missense_Mutation_p.E187K|FOLH1_ENST00000356696.3_Missense_Mutation_p.E495K|FOLH1_ENST00000533034.1_Missense_Mutation_p.E480K NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 495 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTCCAACTTTCATAAAGAGAT 0.348000 12 50 0 0 0.00074312 0 0 SPTSSB 165679 broad.mit.edu 37 3 161063940 161063940 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:161063940G>A ENST00000359175.4 - 3 1742 c.172C>T c.(172-174)Cgc>Tgc p.R58C SPTSSB_ENST00000497137.1_Missense_Mutation_p.R58C NM_001040100.1 NP_001035189.1 Q8NFR3 SSPTB_HUMAN serine palmitoyltransferase, small subunit B 58 sphingolipid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex protein binding CAAGCCAGGCGAATGTGGATT 0.368000 6 30 0 0 0.00198382 0 0 KRT75 9119 broad.mit.edu 37 12 52827609 52827609 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:52827609G>A ENST00000252245.5 - 1 700 c.480C>T c.(478-480)ttC>ttT p.F160F NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 160 Coil 1A.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) TGAAGGAGGCGAACTTATTGT 0.562000 12 46 0 0 0.00244969 0 0 FASLG 356 broad.mit.edu 37 1 172634797 172634797 + Missense_Mutation SNP G G A rs80358236 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:172634797G>A ENST00000367721.2 + 4 671 c.487G>A c.(487-489)Gaa>Aaa p.E163K FASLG_ENST00000340030.3_3'UTR NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 163 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 TCTGGAATGGGAAGACACCTA 0.408000 13 27 0 0 0.00185496 0 0 OR4C12 283093 broad.mit.edu 37 11 50003708 50003708 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:50003708G>A ENST00000335238.4 - 1 363 c.330C>T c.(328-330)atC>atT p.I110I NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TCAGCAGGATGATCTCAGTAG 0.458000 31 82 0 0 0.00209593 0 0 ANGPT1 284 broad.mit.edu 37 8 108296931 108296931 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:108296931C>T ENST00000520734.1 - 6 869 c.584G>A c.(583-585)gGa>gAa p.G195E ANGPT1_ENST00000520052.1_Missense_Mutation_p.G194E|ANGPT1_ENST00000518386.1_Intron Q15389 ANGP1_HUMAN angiopoietin 1 395 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) CTTTTCATTTCCTATGTGGAA 0.378000 6 38 0 0 0.000157383 0 0 CD207 50489 broad.mit.edu 37 2 71058321 71058321 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:71058321G>A ENST00000410009.3 - 6 892 c.847C>T c.(847-849)Cca>Tca p.P283S NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 283 C-type lectin. 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 GGCTCACCTGGAATCCAGAAC 0.433000 14 34 0 0 0.00244969 0 0 NLRC5 84166 broad.mit.edu 37 16 57060564 57060564 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:57060564C>T ENST00000436936.1 + 6 1934 c.1709C>T c.(1708-1710)tCc>tTc p.S570F NLRC5_ENST00000308149.7_Missense_Mutation_p.S570F|NLRC5_ENST00000539144.1_Missense_Mutation_p.S570F|NLRC5_ENST00000262510.6_Missense_Mutation_p.S570F Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 570 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GGCCTGGCATCCTGCACCTGC 0.617000 9 30 0 0 0.000274275 0 0 C3 718 broad.mit.edu 37 19 6685030 6685030 + Nonsense_Mutation SNP C C T rs112522704 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:6685030C>T ENST00000245907.6 - 30 4030 c.3938G>A c.(3937-3939)tGg>tAg p.W1313* NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1313 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGCAGATTCCCAGTGGATACG 0.582000 4 20 0 0 0.00024832 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626960 108626960 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:108626960C>T ENST00000264047.2 + 9 1662 c.1386C>T c.(1384-1386)taC>taT p.Y462Y SLC5A7_ENST00000540517.1_Silent_p.Y357Y|SLC5A7_ENST00000409059.1_Silent_p.Y462Y NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 462 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGATCTTCTACCCTGGCTATT 0.423000 9 41 0 0 0.000673444 0 0 DSC1 1823 broad.mit.edu 37 18 28720210 28720210 + Missense_Mutation SNP C C T rs141453659 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr18:28720210C>T ENST00000257197.3 - 10 1576 c.1315G>A c.(1315-1317)Gag>Aag p.E439K RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E439K NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 439 Cadherin 3. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AATTGTGCCTCGTTAATGACA 0.368000 13 37 0 0 0.00244969 0 0 OR6A2 8590 broad.mit.edu 37 11 6816325 6816325 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:6816325G>A ENST00000332601.3 - 1 803 c.615C>T c.(613-615)ttC>ttT p.F205F NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGGCCAGGATGAAATCTGTAA 0.493000 18 55 0 0 0.00121646 0 0 NXF5 55998 broad.mit.edu 37 X 101091776 101091776 + Nonsense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:101091776C>T ENST00000361708.2 - 16 1469 c.1110G>A c.(1108-1110)tgG>tgA p.W370* NXF5_ENST00000537026.1_Intron|NXF5_ENST00000473265.2_Intron Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 370 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 GACCATCCTTCCACTTCAGAG 0.502000 6 18 0 0 0.00116845 0 0 GRIN2B 2904 broad.mit.edu 37 12 13828684 13828684 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:13828684C>T ENST00000279593.3 - 4 1329 c.1120G>A c.(1120-1122)Gaa>Aaa p.E374K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 374 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTTACCCTTTCCCACTTCCTC 0.418000 21 63 0 0 0.00188189 0 0 PTH2R 5746 broad.mit.edu 37 2 209309571 209309571 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:209309571C>T ENST00000272847.2 + 7 1025 c.812C>T c.(811-813)tCg>tTg p.S271L PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 271 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GCTTTCTTTTCGGACACCAAA 0.398000 21 86 0 0 0.00229938 0 0 NOS1 4842 broad.mit.edu 37 12 117660592 117660592 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:117660592G>A ENST00000317775.6 - 26 4588 c.3903C>T c.(3901-3903)acC>acT p.T1301T NOS1_ENST00000338101.4_Silent_p.T1335T|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1301 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGGCCTGCAGGGTCTCTTCCC 0.577000 22 43 0 0 0.00278032 0 0 DIAPH2 1730 broad.mit.edu 37 X 96136645 96136645 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:96136645C>T ENST00000324765.8 + 5 862 c.515C>T c.(514-516)tCg>tTg p.S172L DIAPH2_ENST00000355827.4_Missense_Mutation_p.S172L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.S172L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.S168L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S172L O60879 DIAP2_HUMAN diaphanous-related formin 2 172 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 GAATTACGATCGGGTATATCA 0.383000 11 7 0 0 0.000978159 0 0 SCN2A 6326 broad.mit.edu 37 2 166179919 166179919 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:166179919G>A ENST00000375437.2 + 12 2215 c.1925G>A c.(1924-1926)gGg>gAg p.G642E SCN2A_ENST00000375427.2_Missense_Mutation_p.G642E|SCN2A_ENST00000357398.3_Missense_Mutation_p.G642E|SCN2A_ENST00000283256.6_Missense_Mutation_p.G642E NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 642 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CCCATGAATGGGAAGATGCAT 0.622000 5 17 0 0 0.00116845 0 0 UNC13C 440279 broad.mit.edu 37 15 54799360 54799360 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:54799360G>A ENST00000545554.1 + 22 5347 c.5347G>A c.(5347-5349)Gat>Aat p.D1783N UNC13C_ENST00000260323.11_Missense_Mutation_p.D1783N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1781N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1783 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) TGTATCAAGTGATTTCAGTTC 0.318000 5 18 0 0 0.00116845 0 0 CADM2 253559 broad.mit.edu 37 3 86028334 86028334 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:86028334C>T ENST00000407528.2 + 8 1026 c.964C>T c.(964-966)Ccc>Tcc p.P322S CADM2_ENST00000405615.2_Missense_Mutation_p.P324S|CADM2_ENST00000383699.3_Intron NM_001167674.1 NP_001161146.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 322 Thr-rich. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CACTTTGCTTCCCACTACTAT 0.403000 23 88 0 0 0.000878237 0 0 ACAN 176 broad.mit.edu 37 15 89400917 89400917 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:89400917G>A ENST00000439576.2 + 12 5475 c.5101G>A c.(5101-5103)Gac>Aac p.D1701N ACAN_ENST00000559004.1_Missense_Mutation_p.D1701N|ACAN_ENST00000561243.1_Missense_Mutation_p.D1701N|ACAN_ENST00000352105.7_Missense_Mutation_p.D1701N NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1701 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CAGTGAGCTGGACATTAGTGG 0.542000 23 82 0 0 0.00229938 0 0 PMVK 10654 broad.mit.edu 37 1 154901531 154901531 + Missense_Mutation SNP T T G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:154901531T>G ENST00000368467.3 - 3 586 c.281A>C c.(280-282)aAg>aCg p.K94T NM_006556.3 NP_006547.1 Q15126 PMVK_HUMAN phosphomevalonate kinase 94 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTCCACAATCTTCCTGCAAAA 0.562000 20 57 0 0 0.00152264 0 0 LAMC2 3918 broad.mit.edu 37 1 183196718 183196718 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:183196718G>A ENST00000264144.4 + 10 1419 c.1354G>A c.(1354-1356)Gat>Aat p.D452N LAMC2_ENST00000493293.1_Missense_Mutation_p.D452N NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 452 Laminin EGF-like 5. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 TTTCTACAACGATCCGCACGA 0.557000 23 74 0 0 0.000586117 0 0 ATG2A 23130 broad.mit.edu 37 11 64676602 64676602 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:64676602G>A ENST00000421419.2 - 16 2339 c.2225C>T c.(2224-2226)cCc>cTc p.P742L ATG2A_ENST00000377264.3_Missense_Mutation_p.P742L Q2TAZ0 ATG2A_HUMAN autophagy related 2A 742 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GCTGGACTGGGGGTTCACAGT 0.672000 11 19 0 0 0.00185496 0 0 C19orf45 374877 broad.mit.edu 37 19 7570316 7570316 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:7570316G>A ENST00000361664.2 + 5 1030 c.889G>A c.(889-891)Gag>Aag p.E297K NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 297 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 CTATGCCAGGGAGCCAGGTGA 0.642000 9 10 0 0 0.000274275 0 0 PCDH18 54510 broad.mit.edu 37 4 138451778 138451778 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr4:138451778C>T ENST00000344876.4 - 1 1851 c.1465G>A c.(1465-1467)Gcc>Acc p.A489T PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A269T|PCDH18_ENST00000412923.2_Missense_Mutation_p.A489T NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 489 Cadherin 5. 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) GGATCTGTGGCTGTAACAGTG 0.403000 20 69 0 0 0.000958276 0 0 CNTN3 5067 broad.mit.edu 37 3 74350824 74350824 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:74350824G>A ENST00000263665.6 - 14 1946 c.1919C>T c.(1918-1920)tCc>tTc p.S640F NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 640 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CCAACCCACGGAGAAAGGTGT 0.453000 7 30 0 0 0.000157383 0 0 MXRA5 25878 broad.mit.edu 37 X 3240995 3240995 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:3240995G>A ENST00000217939.6 - 5 2885 c.2731C>T c.(2731-2733)Cct>Tct p.P911S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 911 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATAAGTGTAGGGGCTGCTGTC 0.483000 9 25 0 0 0.000442599 0 0 UXS1 80146 broad.mit.edu 37 2 106721260 106721260 + Nonsense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:106721260G>A ENST00000283148.7 - 11 1010 c.913C>T c.(913-915)Cag>Tag p.Q305* UXS1_ENST00000428048.2_Nonsense_Mutation_p.Q144*|UXS1_ENST00000409501.3_Nonsense_Mutation_p.Q300*|UXS1_ENST00000409032.1_Nonsense_Mutation_p.Q132*|UXS1_ENST00000540130.1_Nonsense_Mutation_p.Q243* NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 300 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 CTGACGTACTGGAACGCCCTT 0.527000 OREG0014864 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 48 0 0 0.000308642 0 0 MISP 126353 broad.mit.edu 37 19 757922 757922 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:757922C>T ENST00000215582.6 + 2 1079 c.976C>T c.(976-978)Ccc>Tcc p.P326S NM_173481.2 NP_775752.1 mitotic spindle positioning GGTGGAAATCCCCACCAGGCC 0.662000 6 8 0 0 0.00116845 0 0 CRB1 23418 broad.mit.edu 37 1 197398659 197398659 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:197398659G>A ENST00000367397.1 + 4 1758 c.900G>A c.(898-900)ggG>ggA p.G300G CRB1_ENST00000535699.1_Silent_p.G895G|CRB1_ENST00000367400.3_Silent_p.G919G|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.G400G|CRB1_ENST00000367399.2_Silent_p.G807G P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 919 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TCACAAGTGGGAAAGCCTGTG 0.532000 11 65 0 0 0.000978159 0 0 C9orf131 138724 broad.mit.edu 37 9 35043926 35043926 + Missense_Mutation SNP A A G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:35043926A>G ENST00000312292.5 + 2 1347 c.1300A>G c.(1300-1302)Aac>Gac p.N434D C9orf131_ENST00000421362.2_Missense_Mutation_p.N386D|C9orf131_ENST00000354479.5_Missense_Mutation_p.N361D NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 434 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CTTGGACCTCAACCCAGAGCT 0.507000 13 35 0 0 0.000308642 0 0 PCLO 27445 broad.mit.edu 37 7 82583809 82583809 + Nonsense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:82583809G>A ENST00000423517.2 - 5 6797 c.6460C>T c.(6460-6462)Caa>Taa p.Q2154* PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q2154* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2085 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 ATTATCTCTTGAATTTCTCTT 0.408000 10 46 0 0 0.000978159 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471800 47471800 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:47471800C>T ENST00000266581.4 - 2 1452 c.986G>A c.(985-987)aGa>aAa p.R329K AMIGO2_ENST00000429635.1_Missense_Mutation_p.R329K|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R329K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R329K NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 329 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) CTCTAGCAGTCTGTTATCTGG 0.448000 26 87 0 0 0.000720815 0 0 KCTD3 51133 broad.mit.edu 37 1 215781439 215781439 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:215781439C>T ENST00000259154.4 + 14 1684 c.1390C>T c.(1390-1392)Cct>Tct p.P464S NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 464 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) AGGTTCTACTCCTTTAGCGTC 0.438000 12 51 0 0 0.00136819 0 0 TAAR5 9038 broad.mit.edu 37 6 132910798 132910798 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:132910798C>T ENST00000258034.2 - 1 79 c.28G>A c.(28-30)Gaa>Aaa p.E10K NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 10 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GGGTGCTCTTCAGCACCTTGG 0.493000 6 19 0 0 0.000157383 0 0 CACNA1I 8911 broad.mit.edu 37 22 40068313 40068313 + Splice_Site SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr22:40068313G>A ENST00000336649.4 + 30 4667 c.4667_splice c.e30+1 p.R1556_splice CACNA1I_ENST00000404898.1_Splice_Site_p.R1515_splice|CACNA1I_ENST00000400164.3_Splice_Site_p.R1515_splice|CACNA1I_ENST00000407673.1_Splice_Site_p.R1515_splice|CACNA1I_ENST00000402142.3_Splice_Site_p.R1550_splice|CACNA1I_ENST00000401624.1_Splice_Site_p.R1550_splice Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1550 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) TTCAAGGACCGGTGAGTGGCC 0.537000 25 85 0 0 0.00047179 0 0 COL12A1 1303 broad.mit.edu 37 6 75834000 75834000 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:75834000G>A ENST00000322507.8 - 41 7004 c.6695C>T c.(6694-6696)tCc>tTc p.S2232F COL12A1_ENST00000345356.6_Missense_Mutation_p.S1068F|COL12A1_ENST00000483888.2_Missense_Mutation_p.S2232F|COL12A1_ENST00000416123.2_Missense_Mutation_p.S2232F NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2232 Fibronectin type-III 18. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TAGCCTGTAGGAGGTGGCTGC 0.373000 4 33 0 0 0.00024832 0 0 MLF2 8079 broad.mit.edu 37 12 6859416 6859416 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:6859416G>A ENST00000203630.5 - 6 970 c.326C>T c.(325-327)tCc>tTc p.S109F MLF2_ENST00000539187.1_Missense_Mutation_p.S109F|MLF2_ENST00000435120.1_Missense_Mutation_p.S109F|MLF2_ENST00000542154.1_Missense_Mutation_p.S109F Q15773 MLF2_HUMAN myeloid leukemia factor 2 109 defense response cytoplasm|nucleus protein binding kidney(2)|large_intestine(3)|lung(4) 9 ATTGGAGTAGGAGATGACAGT 0.587000 10 63 0 0 0.000673444 0 0 CDSN 1041 broad.mit.edu 37 6 31084733 31084733 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:31084733G>A ENST00000376288.2 - 2 685 c.659C>T c.(658-660)tCg>tTg p.S220L PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 220 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 GGGGATGTCCGAACTACAGGG 0.617000 11 29 0 0 0.000978159 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8661948 8661948 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:8661948G>A ENST00000270328.4 - 7 1229 c.963C>T c.(961-963)atC>atT p.I321I ADAMTS10_ENST00000597188.1_Silent_p.I321I Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 321 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TGTGGTTCACGATGGATTTCT 0.572000 18 45 0 0 0.00152264 0 0 COL12A1 1303 broad.mit.edu 37 6 75801104 75801104 + Splice_Site SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:75801104C>T ENST00000322507.8 - 62 8996 c.8685_splice c.e62-1 p.G2896_splice COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Splice_Site_p.G1732_splice|COL12A1_ENST00000483888.2_Splice_Site_p.G2892_splice|COL12A1_ENST00000416123.2_Splice_Site_p.G2820_splice NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2896 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AGCAATGTCTCCCTTGTTGAA 0.299000 9 59 0 0 0.000442599 0 0 BAI3 577 broad.mit.edu 37 6 70071226 70071226 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:70071226C>T ENST00000370598.1 + 29 4882 c.4061C>T c.(4060-4062)cCt>cTt p.P1354L BAI3_ENST00000546190.1_Missense_Mutation_p.P318L|BAI3_ENST00000238918.8_Missense_Mutation_p.P560L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1354 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATGAATCCCCCTGTAATGGAC 0.413000 18 80 0 0 0.00074312 0 0 SCN2A 6326 broad.mit.edu 37 2 166179918 166179918 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:166179918G>A ENST00000375437.2 + 12 2214 c.1924G>A c.(1924-1926)Ggg>Agg p.G642R SCN2A_ENST00000375427.2_Missense_Mutation_p.G642R|SCN2A_ENST00000357398.3_Missense_Mutation_p.G642R|SCN2A_ENST00000283256.6_Missense_Mutation_p.G642R NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 642 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.G642R(1) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GCCCATGAATGGGAAGATGCA 0.622000 4 17 0 0 0.000602214 0 0 SCN9A 6335 broad.mit.edu 37 2 167055825 167055825 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:167055825C>T ENST00000375387.4 - 27 5667 c.5327G>A c.(5326-5328)aGt>aAt p.S1776N SCN9A_ENST00000409435.1_Missense_Mutation_p.S1775N|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1764N|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1776N Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1775 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GTCATCCTCACTCAGAGGTTC 0.418000 15 63 0 0 0.00074312 0 0 PTPRT 11122 broad.mit.edu 37 20 40730818 40730818 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr20:40730818G>A ENST00000373198.3 - 27 3961 c.3726C>T c.(3724-3726)ttC>ttT p.F1242F PTPRT_ENST00000373190.1_Silent_p.F1219F|PTPRT_ENST00000373193.3_Silent_p.F1223F|PTPRT_ENST00000373187.1_Silent_p.F1220F|PTPRT_ENST00000373201.1_Silent_p.F1210F|PTPRT_ENST00000356100.2_Silent_p.F1229F|PTPRT_ENST00000373184.1_Silent_p.F1230F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1220 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTGAGATAAGGAAGGGCAGGC 0.582000 12 26 0 0 0.00244969 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679314 37679314 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr13:37679314G>A ENST00000379800.3 - 1 489 c.80C>T c.(79-81)tCc>tTc p.S27F NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 27 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity p.S27F(1) NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GTCTCCAAAGGAGCCAGACCC 0.542000 15 47 0 0 0.000308642 0 0 C17orf66 256957 broad.mit.edu 37 17 34192270 34192270 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:34192270C>T ENST00000311880.2 - 3 417 c.269G>A c.(268-270)cGa>cAa p.R90Q C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.R90Q NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 90 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CCTTTCCTCTCGCTGATCATA 0.507000 9 35 0 0 0.000673444 0 0 TESPA1 9840 broad.mit.edu 37 12 55367269 55367269 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:55367269C>T ENST00000449076.1 - 3 330 c.198G>A c.(196-198)caG>caA p.Q66Q TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Silent_p.Q66Q|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR NM_001136030.2 NP_001129502.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 66 ACCCGCAATCCTGCAGCCAGT 0.468000 18 38 0 0 0.00152264 0 0 IGFN1 91156 broad.mit.edu 37 1 201184794 201184794 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:201184794G>A ENST00000335211.4 + 15 9253 c.9123G>A c.(9121-9123)aaG>aaA p.K3041K IGFN1_ENST00000295591.8_Silent_p.K201K|IGFN1_ENST00000451870.2_Intron 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 CCTGGAGGAAGGACGGGGCTG 0.642000 4 18 0 0 0.00024832 0 0 PAPPA2 60676 broad.mit.edu 37 1 176740149 176740149 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:176740149C>T ENST00000367662.3 + 17 5712 c.4548C>T c.(4546-4548)ctC>ctT p.L1516L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1516 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCTGGTCTCTCCCTGAAGTCT 0.522000 7 43 0 0 0.000274275 0 0 OR4K13 390433 broad.mit.edu 37 14 20502702 20502702 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:20502702G>A ENST00000315693.2 - 1 217 c.216C>T c.(214-216)atC>atT p.I72I NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AAGAAGCCAGGATCATATCAA 0.443000 11 39 0 0 0.000978159 0 0 RASGRP3 25780 broad.mit.edu 37 2 33749032 33749032 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:33749032C>T ENST00000403687.3 + 8 1343 c.603C>T c.(601-603)atC>atT p.I201I RASGRP3_ENST00000407811.1_Silent_p.I201I|RASGRP3_ENST00000402538.3_Silent_p.I201I NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 201 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TTAATGGAATCTCTAAGTGGG 0.418000 35 111 0 0 0.00058488 0 0 NEB 4703 broad.mit.edu 37 2 152404158 152404158 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:152404158G>A ENST00000427231.2 - 132 20454 c.20252C>T c.(20251-20253)gCt>gTt p.A6751V NEB_ENST00000603639.1_Missense_Mutation_p.A6751V|NEB_ENST00000409198.1_Missense_Mutation_p.A5050V|NEB_ENST00000172853.10_Missense_Mutation_p.A5050V|NEB_ENST00000604864.1_Missense_Mutation_p.A6751V|NEB_ENST00000397345.3_Missense_Mutation_p.A6751V NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5050 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCACTGACAGCCTCTTGTGT 0.428000 5 15 0 0 0.00198382 0 0 SCN11A 11280 broad.mit.edu 37 3 38888526 38888526 + Missense_Mutation SNP G G A rs143537709 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:38888526G>A ENST00000302328.3 - 26 5233 c.5035C>T c.(5035-5037)Cgc>Tgc p.R1679C SCN11A_ENST00000456224.3_Missense_Mutation_p.R1641C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1679C NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1679 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1679C(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAGTGGAGGCGATCTTCACTC 0.463000 11 43 0 0 0.000673444 0 0 SLC22A25 387601 broad.mit.edu 37 11 62984908 62984908 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:62984908C>T ENST00000403374.2 - 5 513 c.210G>A c.(208-210)ttG>ttA p.L70L SLC22A25_ENST00000306494.6_Silent_p.L236L|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron Q6T423 S22AP_HUMAN solute carrier family 22, member 25 236 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CACAAAGTGTCAATGTCAATG 0.433000 6 20 0 0 0.00116845 0 0 SLC28A1 9154 broad.mit.edu 37 15 85451966 85451966 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:85451966G>A ENST00000394573.1 + 9 937 c.735G>A c.(733-735)acG>acA p.T245T SLC28A1_ENST00000537703.1_Silent_p.T167T|SLC28A1_ENST00000286749.3_Silent_p.T245T|SLC28A1_ENST00000537624.1_Silent_p.T245T|SLC28A1_ENST00000538177.1_Silent_p.T245T|SLC28A1_ENST00000537216.1_Silent_p.T245T NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 245 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGAGCTACACGAAGGCTGGCT 0.552000 21 71 0 0 0.00047179 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918165 51918165 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:51918165G>A ENST00000356298.5 - 8 1644 c.1528C>T c.(1528-1530)Cat>Tat p.H510Y SIGLEC10_ENST00000339313.5_Missense_Mutation_p.H510Y|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.H452Y NM_033130.4 NP_149121.2 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 510 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AGCCCTCCATGGAGGCTCAGG 0.687000 12 20 0 0 0.00136819 0 0 SYCP1 6847 broad.mit.edu 37 1 115527431 115527431 + Missense_Mutation SNP G G A rs147186440 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:115527431G>A ENST00000369522.3 + 30 2885 c.2645G>A c.(2644-2646)aGa>aAa p.R882K SYCP1_ENST00000477590.1_Intron|SYCP1_ENST00000369518.1_Missense_Mutation_p.R882K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 882 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|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)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAAAAAAGAGAAAAATGGCC 0.254000 14 277 0 0 0.00074312 0 0 SHMT2 6472 broad.mit.edu 37 12 57627814 57627814 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:57627814C>T ENST00000328923.3 + 11 1760 c.1308C>T c.(1306-1308)ttC>ttT p.F436F SHMT2_ENST00000449049.3_Silent_p.F415F|SHMT2_ENST00000414700.3_Silent_p.F415F|SHMT2_ENST00000393827.4_Silent_p.F340F|SHMT2_ENST00000553474.1_Silent_p.F415F|SHMT2_ENST00000557487.1_Silent_p.F426F NM_001166356.1|NM_005412.5 NP_001159828.1|NP_005403.2 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 436 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTCGACAGTTCCGTGAGGATG 0.557000 21 34 0 0 0.00188189 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938278 116938278 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:116938278G>A ENST00000229554.5 + 1 629 c.492G>A c.(490-492)agG>agA p.R164R RSPH4A_ENST00000368580.4_Silent_p.R164R|RSPH4A_ENST00000368581.4_Silent_p.R164R NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 164 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GTGGACGAAGGGACGTGAGCT 0.468000 Kartagener syndrome 19 54 0 0 0.00188189 0 0 RNF31 55072 broad.mit.edu 37 14 24619941 24619941 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:24619941C>T ENST00000324103.6 + 8 1652 c.1332C>T c.(1330-1332)gcC>gcT p.A444A RNF31_ENST00000559275.1_Silent_p.A293A|RNF31_ENST00000382687.3_Silent_p.A293A NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 444 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) CACAACATGCCCCCCGGCCCT 0.592000 17 30 0 0 0.00229938 0 0 FLNC 2318 broad.mit.edu 37 7 128482328 128482328 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:128482328G>A ENST00000325888.8 + 14 2426 c.2165G>A c.(2164-2166)gGc>gAc p.G722D FLNC_ENST00000346177.6_Missense_Mutation_p.G722D NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 722 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ATCCCCAACGGCGACGGCACC 0.617000 OREG0018297 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 14 0 0 0.00116845 0 0 NR2E1 7101 broad.mit.edu 37 6 108497842 108497842 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:108497842C>T ENST00000368986.4 + 4 1103 c.395C>T c.(394-396)aCc>aTc p.T132I NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.T169I NM_003269.3 NP_003260.1 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 132 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) GCCTTCTTCACCGCGGTCACG 0.701000 7 15 0 0 0.00198382 0 0 ZFP36L1 677 broad.mit.edu 37 14 69257039 69257039 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:69257039G>A ENST00000439696.2 - 2 529 c.228C>T c.(226-228)gcC>gcT p.A76A ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.A76A NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 76 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P77fs*67(1) breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TCAGAGCGGGGGCTGGCTCAC 0.701000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 14 0 0 0.00116845 0 0 GABRG1 2565 broad.mit.edu 37 4 46067417 46067417 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr4:46067417C>T ENST00000295452.4 - 4 673 c.506G>A c.(505-507)cGa>cAa p.R169Q NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 169 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) ATTCCAAATTCGAAGCAGACG 0.323000 7 24 0 0 0.000442599 0 0 VAV3 10451 broad.mit.edu 37 1 108303444 108303444 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:108303444G>A ENST00000370056.4 - 10 1253 c.979C>T c.(979-981)Cct>Tct p.P327S VAV3_ENST00000371846.4_Missense_Mutation_p.P262S|VAV3_ENST00000527011.1_Missense_Mutation_p.P327S|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 327 DH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CGTTGCATAGGAACCACAAGC 0.323000 4 25 0 0 0.000602214 0 0 SLC43A1 8501 broad.mit.edu 37 11 57254631 57254631 + Silent SNP G G A rs142620907 byFrequency TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:57254631G>A ENST00000278426.3 - 14 1825 c.1470C>T c.(1468-1470)ttC>ttT p.F490F SLC43A1_ENST00000528450.1_Silent_p.F490F NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 490 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 GAAGCAAGGCGAACACAGCAC 0.612000 7 16 0 0 0.000274275 0 0 PCLO 27445 broad.mit.edu 37 7 82784661 82784661 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:82784661C>T ENST00000423517.2 - 2 1633 c.1296G>A c.(1294-1296)aaG>aaA p.K432K PCLO_ENST00000333891.8_Silent_p.K432K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 384 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. 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 GCCCAGGTGCCTTAGCTGGAG 0.592000 21 74 0 0 0.00229938 0 0 CR2 1380 broad.mit.edu 37 1 207648331 207648331 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:207648331G>A ENST00000367057.3 + 14 2675 c.2486G>A c.(2485-2487)gGa>gAa p.G829E CR2_ENST00000367059.3_Missense_Mutation_p.G770E|CR2_ENST00000367058.3_Missense_Mutation_p.G770E|CR2_ENST00000458541.2_Missense_Mutation_p.G743E NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 898 Sushi 13. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 AAAGGACATGGATCTTGGAGC 0.438000 7 73 0 0 0.00198382 0 0 GABRE 2564 broad.mit.edu 37 X 151124307 151124307 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:151124307G>A ENST00000370325.1 - 7 863 c.810C>T c.(808-810)ttC>ttT p.F270F GABRE_ENST00000370328.3_Silent_p.F270F|GABRE_ENST00000483564.1_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 270 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TCACATTGAAGAAAATCGTCA 0.473000 14 18 0 0 0.000958276 0 0 MUC16 94025 broad.mit.edu 37 19 9069926 9069926 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:9069926G>A ENST00000397910.4 - 3 17723 c.17520C>T c.(17518-17520)tcC>tcT p.S5840S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5842 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 TGGTTTCTGTGGAGATGTAGG 0.473000 22 58 0 0 0.00278032 0 0 SLAMF1 6504 broad.mit.edu 37 1 160607290 160607290 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:160607290G>A ENST00000302035.6 - 2 455 c.106C>T c.(106-108)Ctc>Ttc p.L36F SLAMF1_ENST00000235739.5_Missense_Mutation_p.L36F|SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000355199.3_Missense_Mutation_p.L36F|SLAMF1_ENST00000538290.1_Missense_Mutation_p.L36F NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 36 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AACTGCCGGAGAATCTTTGGG 0.473000 6 14 0 0 0.00198382 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18747486 18747486 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:18747486C>T ENST00000433979.1 + 29 4063 c.3947C>T c.(3946-3948)tCa>tTa p.S1316L PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1316L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1357L NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1316 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GTTGAAGAATCATCACCTGTG 0.284000 6 47 0 0 0.00198382 0 0 SSH1 54434 broad.mit.edu 37 12 109201429 109201429 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:109201429G>A ENST00000326495.5 - 8 804 c.711C>T c.(709-711)tcC>tcT p.S237S SSH1_ENST00000551165.1_Silent_p.S237S|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.S248S NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 237 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATAGCGCGGGGGAGTCGGGCC 0.622000 16 45 0 0 0.00074312 0 0 F9 2158 broad.mit.edu 37 X 138630645 138630645 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:138630645C>T ENST00000218099.2 + 5 522 c.515C>T c.(514-516)cCa>cTa p.P172L F9_ENST00000394090.2_Missense_Mutation_p.P134L NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 172 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TCCTGTGAACCAGCAGGTCAT 0.368000 10 11 0 0 0.000673444 0 0 KCNH1 3756 broad.mit.edu 37 1 210857430 210857430 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:210857430C>T ENST00000367007.4 - 11 2251 c.2082G>A c.(2080-2082)atG>atA p.M694I KCNH1_ENST00000271751.4_Missense_Mutation_p.M721I NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 721 Calmodulin-binding. 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) TCTTTCGTTTCATGCGTTCTT 0.562000 10 36 0 0 0.00185496 0 0 PRSS45 377047 broad.mit.edu 37 3 46784046 46784046 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:46784046C>T ENST00000442359.2 - 4 480 c.481G>A c.(481-483)Gaa>Aaa p.E161K PRSS50_ENST00000460241.1_Intron NM_199183.2 NP_954652.2 Q7RTY3 PRS45_HUMAN protease, serine, 45 193 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 CCCTCAACTTCACAAGCCAAT 0.582000 10 42 0 0 0.000978159 0 0 RYR2 6262 broad.mit.edu 37 1 237756850 237756850 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:237756850C>T ENST00000366574.2 + 33 4667 c.4350C>T c.(4348-4350)ttC>ttT p.F1450F RYR2_ENST00000360064.6_Silent_p.F1448F|RYR2_ENST00000542537.1_Silent_p.F1434F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1450 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATCAGATTTCCATCAGTATG 0.408000 8 46 0 0 0.000274275 0 0 MOG 4340 broad.mit.edu 37 6 29627155 29627155 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:29627155G>A ENST00000376894.4 + 2 266 c.148G>A c.(148-150)Gaa>Aaa p.E50K MOG_ENST00000490427.1_Intron|MOG_ENST00000376902.3_Missense_Mutation_p.E50K|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Missense_Mutation_p.E50K|MOG_ENST00000483013.1_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.E50K|MOG_ENST00000396704.3_Missense_Mutation_p.E50K|MOG_ENST00000376891.4_Missense_Mutation_p.E50K|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.E50K|MOG_ENST00000376917.3_Missense_Mutation_p.E50K|MOG_ENST00000533330.2_Missense_Mutation_p.E50K|MOG_ENST00000494692.1_Missense_Mutation_p.E50K|MOG_ENST00000416766.2_Missense_Mutation_p.E50K Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 50 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 GGATGAAGTGGAATTGCCATG 0.542000 21 105 0 0 0.00188189 0 0 CES4A 283848 broad.mit.edu 37 16 67029701 67029701 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr16:67029701G>A ENST00000540947.2 + 2 413 c.229G>A c.(229-231)Gga>Aga p.G77R CES4A_ENST00000541479.1_Missense_Mutation_p.G100R|CES4A_ENST00000398354.1_Missense_Mutation_p.G77R|CES4A_ENST00000338718.4_Missense_Mutation_p.G100R|CES4A_ENST00000326686.5_Missense_Mutation_p.G77R NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 77 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 GCCCTGGAAAGGAATCAGAGA 0.587000 7 33 0 0 0.000157383 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5209252 5209252 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr5:5209252G>A ENST00000274181.7 + 10 1636 c.1498G>A c.(1498-1500)Gaa>Aaa p.E500K ADAMTS16_ENST00000511368.1_Missense_Mutation_p.E500K NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 500 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCCTGTGAAGGAATACAAGTA 0.468000 25 69 0 0 0.00047179 0 0 NISCH 11188 broad.mit.edu 37 3 52526445 52526445 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:52526445C>T ENST00000345716.4 + 21 4596 c.4462C>T c.(4462-4464)Cgc>Tgc p.R1488C NISCH_ENST00000479054.1_Missense_Mutation_p.R1488C NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1488 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GCTGTTGGCTCGCCAGTGGGA 0.667000 8 37 0 0 0.000274275 0 0 STXBP5L 9515 broad.mit.edu 37 3 120941953 120941953 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:120941953G>A ENST00000273666.6 + 11 1331 c.1060G>A c.(1060-1062)Gat>Aat p.D354N STXBP5L_ENST00000492541.1_Missense_Mutation_p.D354N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D354N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D354N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D354N NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 354 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ACTTGAAATGGATCATCCTAT 0.333000 19 46 0 0 0.000958276 0 0 SYT16 83851 broad.mit.edu 37 14 62547953 62547953 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr14:62547953G>A ENST00000430451.2 + 4 1592 c.1395G>A c.(1393-1395)atG>atA p.M465I NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 465 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) AAGGGGAAATGAAAGTGACTC 0.498000 4 24 0 0 0.000602214 0 0 PTPRK 5796 broad.mit.edu 37 6 128294823 128294823 + Silent SNP C C T rs138416879 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:128294823C>T ENST00000368227.3 - 29 4536 c.4170G>A c.(4168-4170)acG>acA p.T1390T PTPRK_ENST00000368207.3_Silent_p.T1405T|PTPRK_ENST00000368210.3_Silent_p.T1391T|PTPRK_ENST00000368213.5_Silent_p.T1379T|PTPRK_ENST00000368226.4_Silent_p.T1373T|PTPRK_ENST00000368215.3_Silent_p.T1372T|PTPRK_ENST00000532331.1_Silent_p.T1395T Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1372 Tyrosine-protein phosphatase 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AGTGGATAATCGTCCGGCCTT 0.483000 18 63 0 0 0.00152264 0 0 TMEM176A 55365 broad.mit.edu 37 7 150499314 150499314 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:150499314C>T ENST00000484928.1 + 3 767 c.186C>T c.(184-186)atC>atT p.I62I TMEM176A_ENST00000004103.3_Silent_p.I62I|TMEM176A_ENST00000461345.1_Silent_p.I3I Q96HP8 T176A_HUMAN transmembrane protein 176A 62 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGATGCAGATCGTGCTGGGGA 0.562000 7 38 0 0 0.000442599 0 0 ERCC2 2068 broad.mit.edu 37 19 45860600 45860600 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:45860600C>T ENST00000391945.4 - 15 1484 c.1407G>A c.(1405-1407)aaG>aaA p.K469K ERCC2_ENST00000391944.3_Silent_p.K391K NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 469 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) AGTCCAGGATCTTGGGGTAGA 0.647000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 10 0 0 0.00198382 0 0 CYP7A1 1581 broad.mit.edu 37 8 59410911 59410911 + Silent SNP A A T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:59410911A>T ENST00000301645.3 - 2 335 c.198T>A c.(196-198)gtT>gtA p.V66V NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 66 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TGCAGGTAAAAACATGACCAT 0.388000 Neonatal Giant Cell Hepatitis 14 65 0 0 0.000422831 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220392 130220392 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:130220392G>A ENST00000276211.5 + 10 1716 c.1371G>A c.(1369-1371)agG>agA p.R457R ARHGAP36_ENST00000370922.1_Silent_p.R445R|ARHGAP36_ENST00000370921.1_Silent_p.R321R NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 457 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GGAACTTGAGGAAGATCCAGT 0.473000 12 17 0 0 0.00185496 0 0 CCAR2 57805 broad.mit.edu 37 8 22464832 22464832 + Nonsense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:22464832C>T ENST00000308511.4 + 6 730 c.481C>T c.(481-483)Cag>Tag p.Q161* KIAA1967_ENST00000520861.1_5'UTR|KIAA1967_ENST00000389279.3_Nonsense_Mutation_p.Q161* Q8N163 K1967_HUMAN 161 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) ACTCTTTCCTCAGAAGCGTGA 0.532000 10 31 0 0 0.00136819 0 0 UNC45B 146862 broad.mit.edu 37 17 33513548 33513548 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:33513548G>A ENST00000268876.5 + 20 2863 c.2766G>A c.(2764-2766)atG>atA p.M922I UNC45B_ENST00000591048.1_Missense_Mutation_p.M841I|UNC45B_ENST00000378449.1_Missense_Mutation_p.M841I|UNC45B_ENST00000433649.1_Missense_Mutation_p.M920I|UNC45B_ENST00000394570.2_Missense_Mutation_p.M920I NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 922 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TCAAGTGCATGGATTATGGTT 0.527000 5 40 0 0 0.000602214 0 0 RALB 5899 broad.mit.edu 37 2 121047207 121047207 + Silent SNP C C T rs148143386 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:121047207C>T ENST00000272519.5 + 4 645 c.375C>T c.(373-375)gtC>gtT p.V125V RALB_ENST00000470417.1_3'UTR|RALB_ENST00000404963.3_Silent_p.V146V|RALB_ENST00000474855.2_Silent_p.V147V|RALB_ENST00000420510.1_Silent_p.V125V NM_002881.2 NP_002872.1 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 125 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding p.V125V(1) endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(154;0.122) CACTGCTCGTCGTGGGAAACA 0.502000 21 72 0 0 0.00229938 0 0 FCGBP 8857 broad.mit.edu 37 19 40433354 40433354 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:40433354G>A ENST00000221347.6 - 2 922 c.915C>T c.(913-915)ctC>ctT p.L305L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 305 IgGFc-binding. 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) CAGACAGGTAGAGTGGCCAGG 0.557000 6 17 0 0 0.00116845 0 0 BAGE2 85319 broad.mit.edu 37 21 11038949 11038949 + RNA SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr21:11038949G>A ENST00000470054.1 - 0 1254 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) TGCTGATAATGAAAATGATGA 0.423000 11 246 0 0 0.000673444 0 0 INHBA 3624 broad.mit.edu 37 7 41729722 41729722 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr7:41729722C>T ENST00000242208.4 - 3 1053 c.807G>A c.(805-807)ggG>ggA p.G269G INHBA_ENST00000442711.1_Silent_p.G269G|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 269 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 ccttctttttcccttccccct 0.587000 TSP Lung(11;0.080) 5 13 0 0 0.000602214 0 0 FCRL4 83417 broad.mit.edu 37 1 157556060 157556060 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:157556060C>T ENST00000271532.1 - 6 1168 c.1033G>A c.(1033-1035)Gag>Aag p.E345K FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 345 Ig-like C2-type 4. 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) GCAGGGAGCTCCAGCTCTGCT 0.577000 10 47 0 0 0.000673444 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532073 84532073 + RNA SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:84532073G>A ENST00000527857.1 + 0 2095 NR_026851.1 CTGAGGTAAGGAAGAAACTAG 0.502000 6 34 0 0 0.00116845 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6243335 6243335 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr18:6243335C>T ENST00000400104.3 - 7 618 c.418G>A c.(418-420)Gga>Aga p.G140R L3MBTL4_ENST00000284898.6_Missense_Mutation_p.G140R|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.G140R|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.G140R Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 140 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TCACACCATCCTACTGGATGA 0.393000 13 44 0 0 0.00244969 0 0 OR52E6 390078 broad.mit.edu 37 11 5862438 5862438 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:5862438G>A ENST00000329322.5 - 1 689 c.690C>T c.(688-690)ccC>ccT p.P230P OR52E6_ENST00000379946.2_Silent_p.P234P|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 230 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) CTTCCCAGGAGGGCAGGCAGA 0.433000 5 25 0 0 0.000602214 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814304 106814304 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr8:106814304G>A ENST00000407775.2 + 8 2244 c.1994G>A c.(1993-1995)gGa>gAa p.G665E RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G533E|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G533E|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G396E NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 665 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AAAATTAATGGAAAACCTGTT 0.433000 7 18 0 0 0.000157383 0 0 CYP4B1 1580 broad.mit.edu 37 1 47282763 47282763 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:47282763G>A ENST00000271153.4 + 9 1150 c.1114G>A c.(1114-1116)Gag>Aag p.E372K CYP4B1_ENST00000452782.2_Missense_Mutation_p.E210K|CYP4B1_ENST00000371923.4_Missense_Mutation_p.E373K|CYP4B1_ENST00000371919.4_Missense_Mutation_p.E358K P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 372 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GTGCATCAAGGAGAGCTTCCG 0.552000 11 45 0 0 0.00136819 0 0 MUC16 94025 broad.mit.edu 37 19 9028320 9028320 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:9028320C>T ENST00000397910.4 - 11 36675 c.36472G>A c.(36472-36474)Gac>Aac p.D12158N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12160 SEA 1. 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 CGCTCTCTGTCCAGTCCGAGG 0.557000 18 46 0 0 0.00074312 0 0 CERS3 204219 broad.mit.edu 37 15 101016291 101016291 + Splice_Site SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr15:101016291C>T ENST00000284382.4 - 9 1032 c.609_splice c.e9+1 p.K203_splice CERS3_ENST00000538112.2_Splice_Site_p.K203_splice|CERS3_ENST00000394113.1_Splice_Site_p.K203_splice|CERS3_ENST00000560944.1_Intron NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 203 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AGACACTTACCTTTCTCTTGA 0.353000 15 50 0 0 0.000422831 0 0 RFX6 222546 broad.mit.edu 37 6 117237415 117237415 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr6:117237415C>T ENST00000332958.2 + 9 926 c.910C>T c.(910-912)Ccc>Tcc p.P304S RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 304 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CCATCTCCTTCCCCTGCTCGA 0.343000 9 72 0 0 0.000442599 0 0 ZNF233 353355 broad.mit.edu 37 19 44770435 44770435 + Nonsense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr19:44770435C>T ENST00000592581.1 + 3 206 c.100C>T c.(100-102)Caa>Taa p.Q34* ZNF233_ENST00000391958.2_Nonsense_Mutation_p.Q34*|ZNF233_ENST00000334152.1_Missense_Mutation_p.P151L|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000589522.1_Nonsense_Mutation_p.Q34* NM_001207005.1 NP_001193934.1 A6NK53 ZN233_HUMAN zinc finger protein 233 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) AAAGCTGTACCAAGATGTGAT 0.522000 18 40 0 0 0.000958276 0 0 LRP6 4040 broad.mit.edu 37 12 12397300 12397300 + Missense_Mutation SNP T T G TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr12:12397300T>G ENST00000261349.4 - 2 421 c.345A>C c.(343-345)gaA>gaC p.E115D LRP6_ENST00000543091.1_Missense_Mutation_p.E115D NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 115 Beta-propeller 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TCCGATTAGTTTCAGAATCTG 0.393000 75 207 0 0 0.000781405 0 0 ULK2 9706 broad.mit.edu 37 17 19699574 19699574 + Missense_Mutation SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr17:19699574G>A ENST00000395544.4 - 19 2330 c.1831C>T c.(1831-1833)Cct>Tct p.P611S ULK2_ENST00000361658.2_Missense_Mutation_p.P611S NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 611 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) TGAGTTTTAGGGATTTTGAAA 0.413000 10 26 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179648854 179648854 + Silent SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr2:179648854G>A ENST00000589042.1 - 16 2942 c.2718C>T c.(2716-2718)atC>atT p.I906I TTN_ENST00000591111.1_Silent_p.I906I|TTN_ENST00000342992.6_Silent_p.I906I|TTN_ENST00000460472.2_Silent_p.I860I|TTN_ENST00000360870.5_Silent_p.I906I|TTN_ENST00000359218.5_Silent_p.I860I|TTN_ENST00000342175.6_Silent_p.I860I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 906 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) TGGTGCCAGTGATGCTCACCC 0.552000 11 51 0 0 0.00185496 0 0 PIP5KL1 138429 broad.mit.edu 37 9 130687530 130687530 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr9:130687530C>T ENST00000388747.4 - 9 817 c.773G>A c.(772-774)cGg>cAg p.R258Q PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R55Q NM_001135219.1 NP_001128691.1 Q5T9C9 PI5L1_HUMAN phosphatidylinositol-4-phosphate 5-kinase-like 1 258 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 GAACCAGCTCCGCTGGGGCCC 0.617000 7 21 0 0 0.00198382 0 0 CNTN4 152330 broad.mit.edu 37 3 2908630 2908630 + Translation_Start_Site SNP G G A TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr3:2908630G>A ENST00000358480.3 + 0 279 CNTN4_ENST00000418658.1_Missense_Mutation_p.D217N|CNTN4_ENST00000427331.1_Missense_Mutation_p.D217N|CNTN4_ENST00000397461.1_Missense_Mutation_p.D217N Q8IWV2 CNTN4_HUMAN contactin 4 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATTGAGAAATGATGGTGAGTT 0.383000 5 20 0 0 0.00116845 0 0 TACSTD2 4070 broad.mit.edu 37 1 59041883 59041883 + Frame_Shift_Del DEL C C - TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr1:59041883delC ENST00000371225.2 - 1 1283 c.946delG c.(946-948)agfs p.E316fs NM_002353.2 NP_002344.2 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 316 cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity all_cancers(7;6.54e-05) TTTCTCAACTCCCCCAGTTCC 0.612 2 4 --- --- --- --- FAM86EP 348926 broad.mit.edu 37 4 3951121 3951122 + RNA INS - - TGTC rs35568143 TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr4:3951121_3951122insTGTC ENST00000281228.8 - 0 344 FAM86EP_ENST00000313946.8_RNA cgttttcACTTTGTGCAGGAAG 0.515 4 4 --- --- --- --- SLCO2B1 11309 broad.mit.edu 37 11 74876960 74876960 + Frame_Shift_Del DEL C C - TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chr11:74876960delC ENST00000289575.5 + 4 809 c.414delC c.(412-414)atfs p.I138fs SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Frame_Shift_Del_p.I22fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Del_p.I116fs|SLCO2B1_ENST00000341411.4_Frame_Shift_Del_p.I22fs|SLCO2B1_ENST00000532236.1_Frame_Shift_Del_p.I22fs NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 138 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CGCACTTCATCTCGGAGCCAT 0.617 31 84 --- --- --- --- DMD 1756 broad.mit.edu 37 X 31187635 31187635 + Frame_Shift_Del DEL T T - TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:31187635delT ENST00000357033.4 - 74 10684 c.10478delA c.(10477-10479)cgfs p.Q3493fs DMD_ENST00000378702.4_Frame_Shift_Del_p.Q425fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.Q1033fs|DMD_ENST00000378707.3_Frame_Shift_Del_p.Q1033fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.Q425fs|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000359836.1_Frame_Shift_Del_p.Q1020fs|DMD_ENST00000541735.1_Intron|DMD_ENST00000361471.4_Frame_Shift_Del_p.Q412fs|DMD_ENST00000378680.2_Intron|DMD_ENST00000378677.2_Frame_Shift_Del_p.Q3489fs|DMD_ENST00000343523.2_Intron NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3493 Binds to SNTB1. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AATCAAGATCTGGGCAGGACT 0.438 2 4 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 41010280 41010283 + Frame_Shift_Del DEL GTTT GTTT - TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx dbcdc00e-8a5c-435a-9d24-c03a727612ba 5d6a97e5-dc5e-41a7-927c-dd782d05fb15 g.chrX:41010280_41010283delGTTT ENST00000324545.7 + 13 2366_2369 c.1733_1736delGTTT c.(1732-1737)agfs p.SL578fs USP9X_ENST00000378308.2_Frame_Shift_Del_p.SL578fs NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 578 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GAAATTTGTAGTTTGTTTGGTGAA 0.314 8 8 --- --- --- ---