Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut FGF13 2258 broad.mit.edu 37 X 137715099 137715099 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:137715099C>T uc004fam.3 - 4 1312 c.650G>A c.(649-651)cGa>cAa p.R217Q FGF13_uc004fan.3_Missense_Mutation_p.R164Q|FGF13_uc011mwi.2_Missense_Mutation_p.R198Q|FGF13_uc004faq.3_Missense_Mutation_p.R227Q|FGF13_uc004far.3_Missense_Mutation_p.R198Q|FGF13_uc011mwj.2_Missense_Mutation_p.R227Q|FGF13_uc011mwk.2_Missense_Mutation_p.R171Q NM_004114 NP_004105 Q92913 FGF13_HUMAN Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA. 217 MAPKKK cascade|cell-cell signaling|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity p.R217Q(4)|p.R227Q(2)|p.R164Q(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) GCTTCCAGATCGGGAGAACTC 0.517000 26 11 0 0 0.00010058 0 0 KRT5 3852 broad.mit.edu 37 12 52913666 52913666 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:52913666C>T uc001san.3 - 0 578 c.415G>A c.(415-417)Ggt>Agt p.G139S KRT5_uc009zmh.3_Missense_Mutation_p.G139S NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 139 Gly-rich.|Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TCTTGGATACCTCCAGGAGGG 0.622000 48 11 0 0 0.000673444 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:35930362T>C uc010kxc.3 + 9 1175 c.951T>C c.(949-951)taT>taC p.Y317Y SEPT7_uc011kat.2_Silent_p.Y317Y|SEPT7_uc011kau.2_Silent_p.Y283Y|SEPT7_uc011kav.2_Silent_p.Y266Y NM_001788 NP_001779 Q16181 SEPT7_HUMAN Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA. 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 15 4 0 0 0.00024832 0 0 PBXIP1 57326 broad.mit.edu 37 1 154923827 154923827 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:154923827C>T uc001ffr.3 - 4 349 c.290G>A c.(289-291)gGa>gAa p.G97E PBXIP1_uc001ffs.3_Missense_Mutation_p.G68E|PBXIP1_uc010pep.2_Intron|PBXIP1_uc009woy.1_Non-coding_Transcript NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA. 97 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TACTGTGTCTCCTGGGCCAGG 0.627000 34 32 0 0 0.000409698 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356406 37356406 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:37356406G>A uc002xjc.3 + 1 965 c.702G>A c.(700-702)ccG>ccA p.P234P NM_080552 NP_542119 Q9H598 VIAAT_HUMAN Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA. 234 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) ACAGCTTCCCGGGGCTGCCCG 0.597000 33 8 0 0 0.000442599 0 0 C1orf201 90529 broad.mit.edu 37 1 24687382 24687382 + Missense_Mutation SNP C A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:24687382C>A uc001bjc.3 - 7 1054 c.887G>T c.(886-888)cGg>cTg p.R296L GRHL3_uc021oiw.1_Intron|C1orf201_uc010oej.2_Intron|C1orf201_uc001bjb.3_Missense_Mutation_p.R204L|C1orf201_uc001bja.3_Missense_Mutation_p.R249L|C1orf201_uc001bjd.3_Missense_Mutation_p.R296L NM_001199013 NP_001185942 Q5TH74 CA201_HUMAN Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA. 296 breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 15 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145) CGCTGTCCACCGGCTGGTATT 0.517000 213 7 0.000978159 0.00955341 0.000978159 1 0 SLC6A18 348932 broad.mit.edu 37 5 1238113 1238113 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:1238113C>T uc003jby.2 + 4 793 c.670C>T c.(670-672)Ctc>Ttc p.L224F NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 224 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GACCATCTTTCTCATCAGAGG 0.493000 92 22 0 0 0.00106085 0 0 TMC1 117531 broad.mit.edu 37 9 75387400 75387400 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:75387400C>T uc004aiz.1 + 12 1353 c.813C>T c.(811-813)ttC>ttT p.F271F TMC1_uc010moz.1_Silent_p.F229F|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.F125F|TMC1_uc010mpa.1_Silent_p.F125F NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. 271 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GGATGAATTTCAGGTTGCCGC 0.398000 37 38 0 0 0.000228196 0 0 KANSL1 284058 broad.mit.edu 37 17 44108899 44108899 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:44108899G>A uc002ikc.3 - 14 3732 c.3261C>T c.(3259-3261)ccC>ccT p.P1087P KANSL1_uc002ikd.3_Silent_p.P1087P|KANSL1_uc010dav.3_Silent_p.P1086P|KANSL1_uc010wkb.2_Silent_p.P418P|KANSL1_uc010wkc.2_Silent_p.P355P NM_001193466 NP_056258 Q7Z3B3 K1267_HUMAN Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA. 1087 MLL1 complex protein binding GACTCTTGAGGGGGACAATGG 0.617000 50 5 0 0 8.12818e-05 0 0 KDM5C 8242 broad.mit.edu 37 X 53245345 53245345 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:53245345G>A uc004drz.3 - 5 1225 c.692C>T c.(691-693)cCa>cTa p.P231L KDM5C_uc022bxe.1_Missense_Mutation_p.P164L|KDM5C_uc004dsa.3_Missense_Mutation_p.P230L NM_004187 NP_004178 P41229 KDM5C_HUMAN Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA. 231 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 TTTCAGCTCTGGATTCTTCTC 0.502000 """N, F, S""" clear cell renal carcinoma 54 12 0 0 0.000422831 0 0 INPP4A 3631 broad.mit.edu 37 2 99204045 99204045 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:99204045G>A uc002syy.3 + 25 3301 c.2908G>A c.(2908-2910)Ggg>Agg p.G970R INPP4A_uc010yvk.2_Missense_Mutation_p.G931R|INPP4A_uc002syx.3_Missense_Mutation_p.G965R|INPP4A_uc010fik.3_Missense_Mutation_p.G299R NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA. 970 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity p.E969K(1) breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 GCCTCCCGAAGGGACTTACGG 0.403000 109 28 0 0 0.000339439 0 0 SSX3 10214 broad.mit.edu 37 X 48214155 48214155 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:48214155G>A uc004djd.1 - 2 190 c.96C>T c.(94-96)ttC>ttT p.F32F SSX3_uc004dje.3_Silent_p.F32F|SSX3_uc010nic.3_Silent_p.F32F NM_021014 NP_066294 Q99909 SSX3_HUMAN Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA. 32 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CTTCCTTAGAGAAGTATTTGG 0.408000 35 8 0 0 0.000157383 0 0 CASC5 57082 broad.mit.edu 37 15 40949309 40949309 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:40949309C>T uc010bbs.1 + 23 6793 c.6632C>T c.(6631-6633)tCc>tTc p.S2211F CASC5_uc010bbt.1_Missense_Mutation_p.S2185F NM_170589 NP_733468 Q8NG31 CASC5_HUMAN Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA. 2211 Necessary for kinetochore localization and for interaction with NSL1 and DSN1. CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) gaaaaggaatcctggaagaag 0.388000 61 11 0 0 0.000978159 0 0 CILP2 148113 broad.mit.edu 37 19 19654772 19654772 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:19654772G>A uc002nmw.4 + 7 1521 c.1436G>A c.(1435-1437)gGg>gAg p.G479E CILP2_uc002nmv.4_Missense_Mutation_p.G473E NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 473 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CCCCCTCGGGGGCTGGTCCGG 0.667000 26 4 0 0 0.000602214 0 0 VPS33A 65082 broad.mit.edu 37 12 122723180 122723181 + Missense_Mutation DNP CC AA AA rs149119632 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:122723180_122723181CC>AA uc001ucd.3 - 9 1368_1369 c.1255_1256GG>TT c.(1255-1257)ggg>TTg p.G419L VPS33A_uc001ucc.3_Non-coding_Transcript NM_022916 NP_075067 Q96AX1 VP33A_HUMAN Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA. 419 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 p.G419W(2) 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) TTGTTTGAGCCCACTATTACAC 0.356000 277 10 0 0 6.4e-05 0 0 SPTLC2 9517 broad.mit.edu 37 14 77987828 77987829 + Missense_Mutation DNP GG AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:77987828_77987829GG>AA uc001xub.3 - 9 1587_1588 c.1399_1400CC>TT c.(1399-1401)cca>TTa p.P467L NM_004863 NP_004854 O15270 SPTC2_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA. 467 KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AGGCACTACTGGAGAGTCTTCA 0.446000 35 10 0 0 6.4e-05 0 0 CPNE5 57699 broad.mit.edu 37 6 36711495 36711495 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:36711495C>T uc003omr.1 - 19 1601 c.1534G>A c.(1534-1536)Ggg>Agg p.G512R CPNE5_uc003omp.1_Missense_Mutation_p.G220R|CPNE5_uc010jwn.1_Missense_Mutation_p.G162R|CPNE5_uc003omq.1_Missense_Mutation_p.G162R NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN Homo sapiens copine V (CPNE5), mRNA. 512 VWFA. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GCCAGCTTCCCCCGGGAGGAG 0.657000 99 16 0 0 0.00074312 0 0 NMBR 4829 broad.mit.edu 37 6 142409673 142409673 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:142409673C>T uc003qiu.3 - 0 264 c.123G>A c.(121-123)gtG>gtA p.V41V NM_002511 NP_002502 P28336 NMBR_HUMAN Homo sapiens neuromedin B receptor (NMBR), mRNA. 41 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CACAGCGGATCACCAACTCCG 0.607000 17 8 0 0 0.000274275 0 0 ATP2C2 9914 broad.mit.edu 37 16 84486767 84486767 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:84486767G>A uc010chj.3 + 18 1944 c.1855G>A c.(1855-1857)Ggg>Agg p.G619R ATP2C2_uc002fhx.3_Missense_Mutation_p.G619R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G636R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G468R NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 619 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding p.G619R(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CCTGTGCAACGGGAAGCTGCA 0.672000 26 9 0 0 0.000274275 0 0 ZNF610 162963 broad.mit.edu 37 19 52857508 52857508 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:52857508C>T uc002pyx.4 + 4 601 c.195C>T c.(193-195)atC>atT p.I65I ZNF610_uc002pyy.4_Silent_p.I65I|ZNF610_uc002pyz.4_Intron|ZNF610_uc002pza.3_Silent_p.I65I NM_001161426 NP_775801 Q8N9Z0 ZN610_HUMAN Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA. 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) TAACAGGAATCTGTCTTCCTG 0.388000 59 6 0 0 8.12818e-05 0 0 GPAA1 8733 broad.mit.edu 37 8 145138651 145138652 + Missense_Mutation DNP GG AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:145138651_145138652GG>AA uc003zax.3 + 3 511_512 c.401_402GG>AA c.(400-402)cgg>cAA p.R134Q GPAA1_uc003zav.1_Missense_Mutation_p.R12Q|GPAA1_uc003zaw.1_Missense_Mutation_p.R74Q NM_003801 NP_003792 O43292 GPAA1_HUMAN Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA. 134 C-terminal protein lipidation|attachment of GPI anchor to protein|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGCATCCTGCGGGCCCCGCGTG 0.653000 36 6 0 0 6.4e-05 0 0 APC2 10297 broad.mit.edu 37 19 1468588 1468588 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:1468588G>A uc002lsr.1 + 14 5496 c.5288G>A c.(5287-5289)gGg>gAg p.G1763E APC2_uc002lss.1_Missense_Mutation_p.G1345E|APC2_uc002lst.1_Missense_Mutation_p.G1763E|APC2_uc002lsu.1_Missense_Mutation_p.G1762E|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA. 1763 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) 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) AAGACCAGCGGGAGCCCCCGT 0.672000 6 3 0 0 0.00024832 0 0 MYB 4602 broad.mit.edu 37 6 135507108 135507108 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:135507108C>T uc003qfh.3 + 1 290 c.91C>T c.(91-93)Ccc>Tcc p.P31S MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.P31S|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_5'UTR|MYB_uc010kgi.3_Missense_Mutation_p.P31S|MYB_uc003qfq.3_Missense_Mutation_p.P31S|MYB_uc010kgj.3_Missense_Mutation_p.P31S|MYB_uc003qfo.3_Missense_Mutation_p.P31S|MYB_uc003qfu.3_Missense_Mutation_p.P31S|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.P31S|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.P31S|MYB_uc003qgd.1_5'Flank NM_001130173 NP_001123645 P10242 MYB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA. 31 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) TGGGCTGCTTCCCAAGTCTGG 0.438000 T NFIB adenoid cystic carcinoma 29 10 0 0 0.000673444 0 0 ITGA1 3672 broad.mit.edu 37 5 52229798 52229798 + Missense_Mutation SNP T C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:52229798T>C uc003jou.3 + 22 3350 c.2936T>C c.(2935-2937)aTt>aCt p.I979T ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.I510T NM_181501 NP_852478 P56199 ITA1_HUMAN Homo sapiens integrin, alpha 1 (ITGA1), mRNA. 979 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) ACTGAGGACATTGGAAATGAA 0.274000 45 6 0 0 3.59834e-05 0 0 OTOA 146183 broad.mit.edu 37 16 21728346 21728346 + Missense_Mutation SNP A T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:21728346A>T uc002djh.3 + 13 1608 c.1607A>T c.(1606-1608)gAt>gTt p.D536V LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.D457V|OTOA_uc002dji.3_Missense_Mutation_p.D212V|OTOA_uc010vbk.2_Missense_Mutation_p.D184V NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 550 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GTCCTGAAGGATAAGGAACTT 0.433000 61 8 0 0 0.000673444 0 0 VIL1 7429 broad.mit.edu 37 2 219295545 219295545 + Nonsense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:219295545G>A uc002vib.3 + 8 1068 c.1046G>A c.(1045-1047)tGg>tAg p.W349* VIL1_uc010zke.2_Nonsense_Mutation_p.W38*|VIL1_uc002via.3_Nonsense_Mutation_p.W349*|VIL1_uc002vic.1_Nonsense_Mutation_p.W349* NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 349 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCCAGAAGTGGACAGCGTCC 0.612000 39 5 0 0 0.000602214 0 0 SLC22A7 10864 broad.mit.edu 37 6 43269383 43269383 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:43269383C>T uc021yzt.1 + 6 1113 c.1014C>T c.(1012-1014)ttC>ttT p.F338F SLC22A7_uc010jyl.1_Silent_p.F339F|SLC22A7_uc003ous.3_Silent_p.F336F|SLC22A7_uc003out.3_Silent_p.F336F NM_153320 NP_696961 Q9Y694 S22A7_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA. 338 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) TAGACCTGTTCCGCACACCAC 0.602000 35 8 0 0 0.000274275 0 0 CLIC1 1192 broad.mit.edu 37 6 31698736 31698736 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:31698736G>A uc003nwr.3 - 5 873 c.609C>T c.(607-609)ttC>ttT p.F203F DDAH2_uc003nwp.3_5'Flank|DDAH2_uc003nwq.3_5'Flank NM_001288 NP_001279 O00299 CLIC1_HUMAN Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA. 203 GST C-terminal. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 GCACTCCCCGGAAGGCCTCGG 0.577000 328 63 0 0 0.000781405 0 0 NYAP1 222950 broad.mit.edu 37 7 100087049 100087049 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:100087049G>A uc003uvd.1 + 3 1864 c.1705G>A c.(1705-1707)Gct>Act p.A569T NYAP1_uc003uve.1_Missense_Mutation_p.A351T NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA. 569 GAGCCTCAAGGCTGGGGGGGT 0.647000 28 24 0 0 0.000720815 0 0 ALDH3B2 222 broad.mit.edu 37 11 67430814 67430814 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:67430814G>A uc001omr.3 - 9 1469 c.1030C>T c.(1030-1032)Cac>Tac p.H344Y ALDH3B2_uc001oms.3_Missense_Mutation_p.H344Y NM_000695 NP_001026786 P48448 AL3B2_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA. 344 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) CAGGTGCGGTGGTGGGAGAAG 0.612000 28 12 0 0 0.000151284 0 0 RP1L1 94137 broad.mit.edu 37 8 10466293 10466293 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:10466293C>T uc003wtc.3 - 3 5544 c.5315G>A c.(5314-5316)aGa>aAa p.R1772K NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1772 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTTCCCTTCTCTCTCCTGAGC 0.577000 105 22 0 0 0.000878237 0 0 PROKR2 128674 broad.mit.edu 37 20 5283169 5283169 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:5283169G>A uc010zqw.2 - 1 680 c.672C>T c.(670-672)ttC>ttT p.F224F PROKR2_uc010zqx.2_Silent_p.F224F|PROKR2_uc010zqy.2_Silent_p.F224F NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 224 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AGATGAAGAGGAAGTAGGACT 0.537000 HNSCC(71;0.22) 67 13 0 0 0.000151284 0 0 SCARF1 8578 broad.mit.edu 37 17 1538734 1538734 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:1538734C>T uc002fsz.1 - 10 1861 c.1811G>A c.(1810-1812)cGa>cAa p.R604Q SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.R518Q NM_003693 NP_003684 Q14162 SREC_HUMAN Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA. 604 Pro/Ser-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCCTGAGCTTCGGCGACTCTG 0.677000 64 14 0 0 0.000308642 0 0 BCOR 54880 broad.mit.edu 37 X 39923809 39923809 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:39923809G>A uc004den.4 - 6 3574 c.3282C>T c.(3280-3282)gcC>gcT p.A1094A BCOR_uc004dep.4_Silent_p.A1094A|BCOR_uc004deo.4_Silent_p.A1076A|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Silent_p.A1094A NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA. 1094 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TGTCCTCTGGGGCTTCAAAGG 0.577000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 36 18 0 0 0.000175454 0 0 PDE1C 5137 broad.mit.edu 37 7 31890260 31890260 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:31890260C>T uc003tcm.2 - 7 1307 c.846G>A c.(844-846)caG>caA p.Q282Q PDE1C_uc003tcn.1_Silent_p.Q282Q|PDE1C_uc003tco.2_Silent_p.Q342Q|PDE1C_uc003tcr.3_Silent_p.Q282Q|PDE1C_uc003tcs.3_Silent_p.Q282Q NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 282 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CTCACCGAGTCTGAATGTGGA 0.453000 25 7 0 0 0.000274275 0 0 CSMD1 64478 broad.mit.edu 37 8 2830697 2830697 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:2830697G>A uc022aqr.1 - 56 9255 c.8865C>T c.(8863-8865)tcC>tcT p.S2955S CSMD1_uc011kwj.2_Silent_p.S2285S|CSMD1_uc010lrg.3_Silent_p.S966S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2956 Sushi 22. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCGTTCAGGGGAGCCCCTCA 0.547000 21 7 0 0 0.000157383 0 0 KIAA2022 340533 broad.mit.edu 37 X 73965442 73965442 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:73965442C>T uc004eby.3 - 1 661 c.44G>A c.(43-45)gGa>gAa p.G15E NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 15 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AGTGTTTTCTCCGTTGGCTGA 0.358000 13 4 0 0 0.00024832 0 0 DNAJC10 54431 broad.mit.edu 37 2 183621054 183621054 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:183621054C>T uc002uow.1 + 17 2082 c.1667C>T c.(1666-1668)cCt>cTt p.P556L DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.P510L|DNAJC10_uc010fro.1_Non-coding_Transcript NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA. 556 ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CTTATGAATCCTTCAGTGGTC 0.383000 33 10 0 0 0.000978159 0 0 SYNE2 23224 broad.mit.edu 37 14 64587649 64587649 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:64587649C>T uc001xgl.3 + 67 13258 c.13028C>T c.(13027-13029)cCt>cTt p.P4343L SYNE2_uc001xgm.3_Missense_Mutation_p.P4343L|SYNE2_uc021ruh.1_Missense_Mutation_p.P4358L|SYNE2_uc010apy.3_Missense_Mutation_p.P728L|SYNE2_uc010apz.1_Missense_Mutation_p.P235L NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 4343 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding p.P4343A(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTGCAGCATCCTACCATTCTA 0.343000 41 7 0 0 8.12818e-05 0 0 LOC440563 440563 broad.mit.edu 37 1 13183335 13183335 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:13183335G>A uc010obg.2 - 1 781 c.538C>T c.(538-540)Ctt>Ttt p.L180F NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA. 180 ribonucleoprotein complex nucleic acid binding|nucleotide binding ATGGCCTGAAGGTCATCTCCT 0.453000 354 17 0 0 0.00074312 0 0 COL11A1 1301 broad.mit.edu 37 1 103428302 103428302 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:103428302C>T uc001dum.3 - 38 3285 c.2967G>A c.(2965-2967)gaG>gaA p.E989E COL11A1_uc001duk.3_Silent_p.E173E|COL11A1_uc001dul.3_Silent_p.E977E|COL11A1_uc001dun.3_Silent_p.E938E|COL11A1_uc009weh.3_Silent_p.E861E NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 977 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGGACCAGTCTCACCGGTTG 0.443000 23 9 0 0 0.000673444 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012782 73012782 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:73012782C>T uc003hgg.2 + 3 920 c.822C>T c.(820-822)atC>atT p.I274I NPFFR2_uc010iig.2_Silent_p.I56I|NPFFR2_uc003hgi.2_Silent_p.I175I|NPFFR2_uc003hgh.2_Silent_p.I172I NM_004885 NP_444264 Q9Y5X5 NPFF2_HUMAN Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA. 274 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TCCTAGCCATCACCATTATGT 0.408000 66 8 0 0 0.000274275 0 0 GPATCH8 23131 broad.mit.edu 37 17 42477247 42477247 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:42477247G>A uc002igw.2 - 7 2417 c.2198C>T c.(2197-2199)cCa>cTa p.P733L GPATCH8_uc002igv.2_Missense_Mutation_p.P655L|GPATCH8_uc010wiz.2_Missense_Mutation_p.P655L NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 733 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AGGGGGTTCTGGTTTGGGTCC 0.542000 62 11 0 0 0.000978159 0 0 GEM 2669 broad.mit.edu 37 8 95262715 95262715 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:95262715C>T uc003ygi.3 - 4 838 c.714G>A c.(712-714)caG>caA p.Q238Q GEM_uc003ygj.3_Silent_p.Q238Q NM_181702 NP_859053 P55040 GEM_HUMAN Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA. 238 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GAAGGCGCACCTGTCGCACAA 0.582000 30 5 0 0 3.59834e-05 0 0 KIAA0430 9665 broad.mit.edu 37 16 15702291 15702291 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:15702291G>A uc002ddr.3 - 20 4246 c.4039C>T c.(4039-4041)Ctt>Ttt p.L1347F KIAA0430_uc002ddq.3_Missense_Mutation_p.L1181F|KIAA0430_uc010uzv.2_Missense_Mutation_p.L1344F|KIAA0430_uc010uzw.2_Missense_Mutation_p.L1347F NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 1346 peroxisome RNA binding|nucleotide binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TGGGACCGAAGGAGTTTAACA 0.413000 74 16 0 0 0.000958276 0 0 OR8K5 219453 broad.mit.edu 37 11 55927077 55927077 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:55927077G>A uc010rja.2 - 0 717 c.717C>T c.(715-717)tcC>tcT p.S239S NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) AACCACATGTGGAGAAAGCCT 0.408000 6 3 0 0 0.00024832 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517364 140517364 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:140517364G>A uc003liq.3 + 0 2565 c.2348G>A c.(2347-2349)gGg>gAg p.G783E NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 783 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAGAAATAGGGAAAACTGCT 0.468000 114 24 0 0 0.000586117 0 0 DNAH7 56171 broad.mit.edu 37 2 196774799 196774799 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:196774799G>A uc002utj.4 - 24 4157 c.4056C>T c.(4054-4056)ttC>ttT p.F1352F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1352 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CAGAGCAGTTGAAAACAACAC 0.423000 19 5 0 0 0.000602214 0 0 ATN1 1822 broad.mit.edu 37 12 7048061 7048061 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:7048061C>T uc001qrw.1 + 6 3172 c.2935C>T c.(2935-2937)Ctg>Ttg p.L979L ATN1_uc001qrx.1_Silent_p.L979L NM_001007026 NP_001931 P54259 ATN1_HUMAN Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA. 979 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GGGCCTGGCTCTGCAGCCTGG 0.672000 74 12 0 0 0.000219431 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887203 9887203 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:9887203C>T uc002koi.4 + 1 1176 c.727C>T c.(727-729)Cca>Tca p.P243S TXNDC2_uc002koh.4_Missense_Mutation_p.P176S|TXNDC2_uc021ugx.1_Missense_Mutation_p.P176S NM_001098529 NP_115619 Q86VQ3 TXND2_HUMAN Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA. 243 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CCCCAAGTCCCCAGAAGAAAC 0.572000 44 9 0 0 0.000673444 0 0 SPTA1 6708 broad.mit.edu 37 1 158615155 158615155 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:158615155C>T uc001fst.1 - 28 4216 c.4017G>A c.(4015-4017)gaG>gaA p.E1339E NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1339 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.E1339D(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GAGCCTCTGCCTCCATGTCAG 0.483000 22 6 0 0 8.12818e-05 0 0 TMC2 117532 broad.mit.edu 37 20 2559848 2559848 + Nonsense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:2559848G>A uc002wgf.1 + 5 717 c.702G>A c.(700-702)tgG>tgA p.W234* TMC2_uc002wgg.1_Nonsense_Mutation_p.W218*|TMC2_uc010zpw.1_Nonsense_Mutation_p.W66*|TMC2_uc010zpx.1_Nonsense_Mutation_p.W65* NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 234 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GTATCCCCTGGGAAATGAAGA 0.368000 38 12 0 0 0.000422831 0 0 TTN 7273 broad.mit.edu 37 2 179569996 179569996 + Missense_Mutation SNP T C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:179569996T>C uc021vsy.1 - 99 26002 c.25777A>G c.(25777-25779)Aaa>Gaa p.K8593E TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K5254E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9520 Ig-like 68. 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) CGGGCATATTTTTCATATTCT 0.373000 26 9 0 0 0.000274275 0 0 C15orf23 90417 broad.mit.edu 37 15 40675118 40675119 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:40675118_40675119CC>TT uc001zll.3 + 0 197_198 c.82_83CC>TT c.(82-84)ccg>TTg p.P28L C15orf23_uc001zlo.3_Missense_Mutation_p.P28L|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.P28L NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA. 28 nucleus protein binding central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 14 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) CCACCCACTTCCGCCTAGCTAC 0.564000 87 10 0 0 6.4e-05 0 0 ZNF554 115196 broad.mit.edu 37 19 2832352 2832352 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:2832352C>T uc002lwm.2 + 3 503 c.305C>T c.(304-306)tCc>tTc p.S102F ZNF554_uc002lwl.2_Missense_Mutation_p.S51F NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN Homo sapiens zinc finger protein 554 (ZNF554), mRNA. 102 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) 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) GGTCCACTTTCCCCAGCACAA 0.438000 117 23 0 0 0.00047179 0 0 RNF181 51255 broad.mit.edu 37 2 85824241 85824241 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:85824241C>T uc002spv.1 + 3 392 c.342C>T c.(340-342)ccC>ccT p.P114P NM_016494 NP_057578 Q9P0P0 RN181_HUMAN Homo sapiens ring finger protein 181 (RNF181), mRNA. 114 ligase activity|zinc ion binding lung(1)|stomach(1) 2 ATTCCTGTCCCTTGTGCCGCT 0.512000 150 40 0 0 0.000680045 0 0 TEX101 83639 broad.mit.edu 37 19 43920687 43920687 + Missense_Mutation SNP G T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:43920687G>T uc002owk.3 + 6 986 c.425G>T c.(424-426)tGg>tTg p.W142L TEX101_uc010xwo.2_Missense_Mutation_p.W124L NM_031451 NP_001123483 Q9BY14 TX101_HUMAN Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA. 124 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) TCTCAGTTTTGGGAGTTCAGT 0.488000 171 32 1.08052e-11 1.07475e-10 0.000814825 1 0 STARD13 90627 broad.mit.edu 37 13 33681026 33681026 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:33681026G>A uc001uuw.3 - 12 3219 c.3093C>T c.(3091-3093)tcC>tcT p.S1031S STARD13_uc001uuu.3_Silent_p.S1023S|STARD13_uc001uuv.3_Silent_p.S913S|STARD13_uc001uux.3_Silent_p.S996S NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 1031 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CCACGGAGAGGGACACCAGGG 0.532000 64 8 0 0 0.000442599 0 0 MYH8 4626 broad.mit.edu 37 17 10293814 10293814 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:10293814C>T uc002gmm.2 - 39 5866 c.5771G>A c.(5770-5772)cGa>cAa p.R1924Q AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1924 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCTCTTCACTCGCAATTTGTT 0.468000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 151 27 0 0 0.000720815 0 0 POLR2B 5431 broad.mit.edu 37 4 57876932 57876933 + Missense_Mutation DNP GT AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:57876932_57876933GT>AA uc003hcl.1 + 11 1610_1611 c.1567_1568GT>AA c.(1567-1569)gtg>AAg p.V523K POLR2B_uc011cae.1_Missense_Mutation_p.V516K|POLR2B_uc011caf.1_Missense_Mutation_p.V448K|POLR2B_uc003hcm.1_Missense_Mutation_p.V16K NM_000938 NP_000929 P30876 RPB2_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA. 523 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) TGTAGGACTTGTGAAGAATTTA 0.327000 97 16 0 0 6.4e-05 0 0 DNAH11 8701 broad.mit.edu 37 7 21628922 21628922 + Nonsense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:21628922G>A uc003svc.3 + 11 2101 c.2070G>A c.(2068-2070)tgG>tgA p.W690* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 690 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ATAATGAATGGAAAAGTAATG 0.343000 Kartagener syndrome 56 8 0 0 0.000157383 0 0 SPINK13 153218 broad.mit.edu 37 5 147653946 147653946 + Splice_Site SNP A C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:147653946A>C uc003lpc.3 + 3 311 c.108_splice c.e3+1 p.K36_splice AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Splice_Site NM_001040129 NP_001035218 Q1W4C9 ISK13_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA. 36 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity breast(2)|lung(3) 5 AGGTGGCCTAAGGTAAATTTA 0.363000 111 21 0 0 0.000720815 0 0 PEG3 5178 broad.mit.edu 37 19 57327719 57327719 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:57327719G>A uc002qnu.2 - 6 2442 c.2091C>T c.(2089-2091)agC>agT p.S697S PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.S668S|PEG3_uc002qnv.2_Silent_p.S697S|PEG3_uc002qnw.2_Silent_p.S573S|PEG3_uc002qnx.2_Silent_p.S571S|PEG3_uc010etr.2_Silent_p.S697S NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 697 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGAGCTCTGAGCTTTGCATGA 0.433000 35 6 0 0 3.59834e-05 0 0 SP100 6672 broad.mit.edu 37 2 231331029 231331029 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:231331029C>T uc002vqt.3 + 11 1296 c.1155C>T c.(1153-1155)ttC>ttT p.F385F SP100_uc002vqs.3_Silent_p.F385F|SP100_uc002vqu.1_Silent_p.F385F|SP100_uc002vqq.2_Silent_p.F385F|SP100_uc010zmc.2_Silent_p.F360F|SP100_uc002vqv.2_Silent_p.F350F NM_003113 NP_003104 P23497 SP100_HUMAN Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA. 385 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon PML body|cytoplasm|nuclear periphery|nucleolus DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCATGGATTTCAGAAAATTAT 0.338000 38 14 0 0 0.000308642 0 0 HK3 3101 broad.mit.edu 37 5 176314301 176314301 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:176314301C>T uc003mfa.3 - 11 1730 c.1638G>A c.(1636-1638)acG>acA p.T546T HK3_uc003mez.3_Silent_p.T102T NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 546 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACGGAAGTTCGTGCCCCCGA 0.642000 49 13 0 0 0.000219431 0 0 ATP7B 540 broad.mit.edu 37 13 52539038 52539038 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:52539038G>A uc001vfw.2 - 4 1996 c.1839C>T c.(1837-1839)atC>atT p.I613I ATP7B_uc001vfy.2_Silent_p.I502I|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.I613I|ATP7B_uc010tgt.1_Silent_p.I613I|ATP7B_uc010tgu.1_Silent_p.I613I|ATP7B_uc010tgv.1_Silent_p.I613I|ATP7B_uc010tgs.1_5'Flank|ATP7B_uc010tgw.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. 613 HMA 6. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCCGTGGACCGATAATTTCCG 0.368000 Wilson disease 89 20 0 0 0.000229342 0 0 BHMT 635 broad.mit.edu 37 5 78411693 78411693 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:78411693C>T uc003kfu.4 + 1 242 c.137C>T c.(136-138)cCt>cTt p.P46L BHMT_uc011cti.2_Missense_Mutation_p.P46L NM_001713 NP_001704 Q93088 BHMT1_HUMAN Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA. 46 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2) 29 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) CCCTGGACTCCTGAAGCTGCT 0.517000 28 9 0 0 0.000274275 0 0 GPR119 139760 broad.mit.edu 37 X 129519283 129519283 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:129519283G>A uc011muv.2 - 0 229 c.139C>T c.(139-141)Ctg>Ttg p.L47L NM_178471 NP_848566 Q8TDV5 GP119_HUMAN Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA. 47 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 GCCACAGCCAGATTCAAGGTG 0.552000 63 26 0 0 0.00047179 0 0 SLC16A14 151473 broad.mit.edu 37 2 230902209 230902209 + Missense_Mutation SNP A T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:230902209A>T uc002vqd.2 - 4 1879 c.1420T>A c.(1420-1422)Ttc>Atc p.F474I FBXO36_uc010fxi.1_Intron NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 474 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CATATGTAGAAGGAAAAATCA 0.328000 44 10 0 0 0.000442599 0 0 ANK2 287 broad.mit.edu 37 4 114294472 114294472 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:114294472C>T uc003ibe.4 + 44 11826 c.11726C>T c.(11725-11727)tCc>tTc p.S3909F ANK2_uc003ibd.4_Missense_Mutation_p.S1815F|ANK2_uc003ibf.4_Missense_Mutation_p.S1824F|ANK2_uc011cgc.2_Missense_Mutation_p.S1000F|ANK2_uc003ibg.4_Missense_Mutation_p.S839F|ANK2_uc003ibh.4_Missense_Mutation_p.S529F|ANK2_uc010ims.3_5'UTR|ANK2_uc010imr.3_5'UTR NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3876 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CGGTATGTATCCTCTGAAGGC 0.383000 19 9 0 0 0.000978159 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:21971029C>T uc003zpk.3 - 1 635 c.329G>A c.(328-330)tGg>tAg p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.W110*|CDKN2A_uc003zpl.3_Silent_p.L124L NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 110 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.W110*(58)|p.?(44)|p.L165L(2)|p.A109V(2)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A109T(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.A109A(1)|p.W110fs*36(1)|p.W110C(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 94 92 0 0 0.000781405 0 0 UGT1A1 54658 broad.mit.edu 37 2 234545621 234545621 + Missense_Mutation SNP T A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:234545621T>A uc002vur.3 + 0 499 c.453T>A c.(451-453)gaT>gaA p.D151E UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.D151E NM_019075 NP_061948 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA. 154 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding p.D151N(1)|p.T150M(1) breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) ATCCTTTTGATACCTGTGGCT 0.403000 72 15 0 0 0.000219431 0 0 ABCA4 24 broad.mit.edu 37 1 94506906 94506906 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:94506906C>T uc001dqh.3 - 22 3485 c.3381G>A c.(3379-3381)ggG>ggA p.G1127G NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 1127 ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAATGCGGTCCCCAAGGAGGT 0.592000 40 10 0 0 0.000673444 0 0 GZMK 3003 broad.mit.edu 37 5 54326316 54326316 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:54326316G>A uc003jpl.1 + 2 311 c.267G>A c.(265-267)aaG>aaA p.K89K NM_002104 NP_002095 P49863 GRAK_HUMAN Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA. 89 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CTCTCTCAAAGAATGAGGCCT 0.393000 48 14 0 0 0.000151284 0 0 MDH1B 130752 broad.mit.edu 37 2 207629981 207629981 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:207629981G>A uc002vbs.3 - 0 70 c.15C>T c.(13-15)gtC>gtT p.V5V MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Silent_p.V5V|MDH1B_uc021vvm.1_5'UTR|FASTKD2_uc002vbu.3_5'Flank|FASTKD2_uc002vbv.3_5'Flank|FASTKD2_uc002vbx.3_5'Flank|FASTKD2_uc002vbw.1_5'Flank NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA. 5 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) CACCCGCGATGACGAATTTGG 0.637000 79 13 0 0 0.000219431 0 0 KCNH1 3756 broad.mit.edu 37 1 210857430 210857430 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:210857430C>T uc001hib.2 - 10 2333 c.2163G>A c.(2161-2163)atG>atA p.M721I KCNH1_uc001hic.2_Missense_Mutation_p.M694I NM_172362 NP_758872 O95259 KCNH1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA. 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 91 20 0 0 0.000175454 0 0 WASF3 10810 broad.mit.edu 37 13 27241676 27241676 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:27241676G>A uc001uqv.3 + 4 516 c.291G>A c.(289-291)atG>atA p.M97I WASF3_uc001uqw.3_Missense_Mutation_p.M97I NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN Homo sapiens WAS protein family, member 3 (WASF3), mRNA. 97 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) ATATCAACATGAAAAAAGCTT 0.348000 53 7 0 0 0.000442599 0 0 TRIP12 9320 broad.mit.edu 37 2 230636271 230636271 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:230636271G>A uc002vpx.1 - 38 5800 c.5691C>T c.(5689-5691)ttC>ttT p.F1897F TRIP12_uc021vxw.1_Silent_p.F1882F|TRIP12_uc002vpy.1_Silent_p.F1579F|TRIP12_uc002vpw.1_Silent_p.F1849F NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 1849 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GACTGAGTGGGAAGACTGATT 0.383000 26 11 0 0 0.000219431 0 0 OR56A4 120793 broad.mit.edu 37 11 6023653 6023653 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:6023653G>A uc010qzv.2 - 0 726 c.726C>T c.(724-726)ctC>ctT p.L242L NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA. 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCACAAGAGAGTTTGGACA 0.433000 15 17 0 0 0.00074312 0 0 VSX2 338917 broad.mit.edu 37 14 74711925 74711925 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:74711925C>T uc001xpq.3 + 2 603 c.513C>T c.(511-513)caC>caT p.H171H NM_182894 NP_878314 P58304 VSX2_HUMAN Homo sapiens visual system homeobox 2 (VSX2), mRNA. 171 multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) ACGAAGCCCACTACCCAGACG 0.562000 25 6 0 0 3.59834e-05 0 0 NLRP8 126205 broad.mit.edu 37 19 56487605 56487605 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:56487605G>A uc002qmh.3 + 7 2883 c.2812G>A c.(2812-2814)Gat>Aat p.D938N NLRP8_uc010etg.3_Missense_Mutation_p.D919N NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 938 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TAGCCTGAAGGATGATGGGGT 0.463000 34 9 0 0 0.000442599 0 0 C9orf174 100499483 broad.mit.edu 37 9 100122382 100122382 + Splice_Site SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:100122382C>T uc011lut.2 + 40 5038 c.4032_splice c.e40+1 p.T1344_splice C9orf174_uc004axe.2_Splice_Site_p.T1176_splice|C9orf174_uc011lus.2_Splice_Site_p.T994_splice|C9orf174_uc004axg.2_Splice_Site_p.T1205_splice|C9orf174_uc004axh.2_Splice_Site NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 1176 integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 CTGGTCTTTACCGTAAGGAAT 0.547000 93 18 0 0 0.000175454 0 0 MARK3 4140 broad.mit.edu 37 14 103958222 103958222 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:103958222C>T uc001ymz.4 + 14 2361 c.1695C>T c.(1693-1695)ttC>ttT p.F565F MARK3_uc001ymx.4_Silent_p.F565F|MARK3_uc001ymw.4_Silent_p.F565F|MARK3_uc001yna.4_Silent_p.F549F|MARK3_uc001ymy.4_Silent_p.F486F|MARK3_uc010awp.3_Silent_p.F588F|MARK3_uc010tyb.2_Silent_p.F360F|MARK3_uc010awq.3_Silent_p.F147F NM_001128918 NP_001122390 P27448 MARK3_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA. 565 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) GTAGCACTTTCCACGGCCAGC 0.577000 23 11 0 0 0.00010058 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100821446 100821446 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:100821446G>A uc002bvv.1 - 3 856 c.777C>T c.(775-777)acC>acT p.T259T ADAMTS17_uc002bvx.1_Silent_p.T16T NM_139057 NP_620688 Q8TE56 ATS17_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA. 259 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TGTTCATGACGGTCAGGATGA 0.627000 104 10 0 0 0.000978159 0 0 CR1L 1379 broad.mit.edu 37 1 207851566 207851566 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:207851566G>A uc001hga.4 + 2 422 c.301G>A c.(301-303)Gat>Aat p.D101N CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 101 Sushi 2. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TAATCCTCCAGATCCTGTGAA 0.383000 51 6 0 0 0.000157383 0 0 KCNQ3 3786 broad.mit.edu 37 8 133187715 133187715 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:133187715G>A uc003ytj.3 - 4 1143 c.918C>T c.(916-918)gcC>gcT p.A306A KCNQ3_uc003yti.3_Silent_p.A186A|KCNQ3_uc010mdt.3_Silent_p.A306A NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 306 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCCACCACAGGGCATCTGCAT 0.502000 59 14 0 0 0.00074312 0 0 KRT5 3852 broad.mit.edu 37 12 52910587 52910587 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:52910587G>A uc001san.3 - 6 1436 c.1273C>T c.(1273-1275)Ctc>Ttc p.L425F KRT5_uc009zmh.3_Missense_Mutation_p.L425F NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 425 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GCATCCTTGAGGGCCAGCTCC 0.617000 61 5 0 0 0.000602214 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140745591 140745591 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:140745591C>T uc003lju.2 + 0 1694 c.1694C>T c.(1693-1695)cCc>cTc p.P565L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.P565L NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 567 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCTGTACCCCGCCCTCCCC 0.612000 100 18 0 0 0.000229342 0 0 DDX51 317781 broad.mit.edu 37 12 132624716 132624716 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:132624716C>T uc001ujy.4 - 11 1741 c.1702G>A c.(1702-1704)Ggc>Agc p.G568S NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA. 568 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) ACGTCGATGCCTCGCGCGGTG 0.711000 39 13 0 0 0.000219431 0 0 CLCNKA 1187 broad.mit.edu 37 1 16378904 16378904 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:16378904C>T uc001axx.4 + 14 1756 c.1620C>T c.(1618-1620)atC>atT p.I540I CLCNKA_uc021ogl.1_Silent_p.I187I|CLCNKA_uc021ogm.1_Silent_p.I371I|CLCNKA_uc001axy.4_Silent_p.I371I NM_000085 NP_000076 P51800 CLCKA_HUMAN Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA. 540 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GCCGCAACATCGGGTGAGTGG 0.587000 57 13 0 0 0.000422831 0 0 OGDHL 55753 broad.mit.edu 37 10 50959916 50959916 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:50959916C>T uc009xog.3 - 4 821 c.787G>A c.(787-789)Gag>Aag p.E263K OGDHL_uc001jie.3_Missense_Mutation_p.E236K|OGDHL_uc010qgt.2_Missense_Mutation_p.E179K|OGDHL_uc010qgu.2_Missense_Mutation_p.E27K|OGDHL_uc009xoh.2_Missense_Mutation_p.E27K NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 236 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CGCTTCTCCTCGCTGGAGAAC 0.602000 71 14 0 0 0.000151284 0 0 PCLO 27445 broad.mit.edu 37 7 82546123 82546123 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:82546123G>A uc003uhx.2 - 6 11468 c.11179C>T c.(11179-11181)Cca>Tca p.P3727S PCLO_uc003uhv.2_Missense_Mutation_p.P3727S|PCLO_uc010lec.3_Missense_Mutation_p.P692S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3658 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 TCAGGAGGTGGATTTGGCAGA 0.423000 21 6 0 0 0.000274275 0 0 CCDC40 55036 broad.mit.edu 37 17 78022387 78022387 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:78022387C>T uc010dht.3 + 4 713 c.682C>T c.(682-684)Ccc>Tcc p.P228S CCDC40_uc010wub.2_Missense_Mutation_p.P228S|CCDC40_uc021uem.1_Missense_Mutation_p.P228S|CCDC40_uc002jxm.4_Missense_Mutation_p.P11S NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA. 228 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCCAGTGATCCCCCCAGGGGT 0.627000 24 31 0 0 0.000409698 0 0 PARP4 143 broad.mit.edu 37 13 25029201 25029202 + Missense_Mutation DNP GG AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:25029201_25029202GG>AA uc001upl.3 - 21 2817_2818 c.2711_2712CC>TT c.(2710-2712)tcc>tTT p.S904F PARP4_uc010tdc.2_Missense_Mutation_p.S904F NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 904 VWFA. DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CACCCACCAAGGACAGCGCATG 0.510000 213 33 0 0 6.4e-05 0 0 GBP6 163351 broad.mit.edu 37 1 89844124 89844124 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:89844124C>T uc001dnf.2 + 4 851 c.577C>T c.(577-579)Cct>Tct p.P193S GBP6_uc010ost.1_Missense_Mutation_p.P63S NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA. 193 GTP binding|GTPase activity p.H192Q(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) GAACGGTCACCCTATCACAGA 0.488000 29 4 0 0 0.000602214 0 0 CARD11 84433 broad.mit.edu 37 7 2985512 2985513 + Missense_Mutation DNP GG TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:2985512_2985513GG>TT uc003smv.3 - 3 632_633 c.298_299CC>AA c.(298-300)cca>AAa p.P100K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 100 CARD. T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GTACAGTTCTGGGTAATAAAAT 0.495000 Mis DLBCL 323 14 0 0 6.4e-05 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835175 12835175 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:12835175G>A uc001aui.3 + 0 192 c.165G>A c.(163-165)atG>atA p.M55I NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 55 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGACAACTATGGTGCAGGCCT 0.582000 78 11 0 0 0.000978159 0 0 KCNB2 9312 broad.mit.edu 37 8 73480322 73480322 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:73480322C>T uc003xzb.3 + 1 941 c.353C>T c.(352-354)tCg>tTg p.S118L NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 118 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.S118L(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGTGCACTTTCGTTTGGCCAA 0.423000 21 17 0 0 0.00074312 0 0 CYP2B6 1555 broad.mit.edu 37 19 41512885 41512885 + Missense_Mutation SNP G A A rs141530852 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:41512885G>A uc002opr.1 + 3 567 c.560G>A c.(559-561)cGa>cAa p.R187Q CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 187 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) TTTGGAAAACGATTCCACTAC 0.507000 47 11 0 0 0.000151284 0 0 ZNF804A 91752 broad.mit.edu 37 2 185798353 185798353 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:185798353G>A uc002uph.3 + 2 873 c.279G>A c.(277-279)agG>agA p.R93R NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 93 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGAAACAAAGGGAATTTGCTC 0.353000 3 7 0 0 8.12818e-05 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336468 30336468 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:30336468C>T uc009xle.2 - 1 411 c.274G>A c.(274-276)Gag>Aag p.E92K KIAA1462_uc001iux.3_Missense_Mutation_p.E92K|KIAA1462_uc001iuy.3_Missense_Mutation_p.E92K|KIAA1462_uc001iuz.3_5'UTR NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 92 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TACCCCGCCTCCGAGGTTCTG 0.557000 33 8 0 0 0.000442599 0 0 SEPP1 6414 broad.mit.edu 37 5 42801047 42801047 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:42801047C>T uc011cps.2 - 5 1109 c.1011G>A c.(1009-1011)ctG>ctA p.L337L CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Silent_p.L307L|SEPP1_uc011cpu.2_Silent_p.L307L|SEPP1_uc003jna.3_Non-coding_Transcript NM_001093726 P49908 SEPP1_HUMAN Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA. 307 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 TTTCAAATATCAGATGTCGAC 0.433000 44 5 0 0 8.12818e-05 0 0 TARBP1 6894 broad.mit.edu 37 1 234541794 234541794 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:234541794G>A uc001hwd.3 - 23 3844 c.3844C>T c.(3844-3846)Cac>Tac p.H1282Y NM_005646 NP_005637 Q13395 TARB1_HUMAN Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA. 1282 RNA processing|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CTAAAATTGTGATTGAAACAC 0.378000 76 28 0 0 0.000491102 0 0 OR8B4 283162 broad.mit.edu 37 11 124294611 124294611 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:124294611G>A uc010sak.2 - 0 157 c.157C>T c.(157-159)Cct>Tct p.P53S NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA. 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGAAGGCTAGGATTTATCCCA 0.438000 7 4 0 0 0.00024832 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086700 39086700 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:39086700G>A uc011aej.1 - 2 813 c.760C>T c.(760-762)Ccg>Tcg p.P254S KCNJ6_uc002ywo.2_Missense_Mutation_p.P254S NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 254 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.P254P(1)|p.P254Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) TGGTTCAACGGGATGAACTCC 0.502000 76 16 0 0 0.000308642 0 0 SNTG2 54221 broad.mit.edu 37 2 1079206 1079206 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:1079206G>A uc002qwq.3 + 1 204 c.75G>A c.(73-75)acG>acA p.T25T SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Silent_p.T25T NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 25 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding p.T25T(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CCCTACAGACGAAAACCACTA 0.478000 104 6 0 0 8.12818e-05 0 0 GRID1 2894 broad.mit.edu 37 10 87614336 87614336 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:87614336G>A uc001kdl.1 - 7 1251 c.1150C>T c.(1150-1152)Cgg>Tgg p.R384W GRID1_uc009xsu.1_Non-coding_Transcript NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 384 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.R384W(4) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGTCCTCCCGAAACTCCATC 0.507000 Multiple Myeloma(13;0.14) 33 6 0 0 8.12818e-05 0 0 RERE 473 broad.mit.edu 37 1 8418267 8418267 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:8418267G>A uc001ape.3 - 20 5138 c.4328C>T c.(4327-4329)cCc>cTc p.P1443L RERE_uc001apf.3_Missense_Mutation_p.P1443L|RERE_uc001apd.3_Missense_Mutation_p.P889L NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 1443 His-rich. NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) Ttggtggagggggtcctgctg 0.632000 25 4 0 0 0.00024832 0 0 TNXB 7148 broad.mit.edu 37 6 32015584 32015584 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:32015584C>T uc003nzl.2 - 29 10447 c.10245G>A c.(10243-10245)agG>agA p.R3415R TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3462 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACCTGTATTTCCTACTGGGCT 0.602000 100 16 0 0 0.000308642 0 0 NCOA7 135112 broad.mit.edu 37 6 126242091 126242091 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:126242091C>T uc003qai.3 + 11 2616 c.2247C>T c.(2245-2247)atC>atT p.I749I NCOA7_uc010kes.3_Silent_p.I749I|NCOA7_uc003qae.4_Silent_p.I749I|NCOA7_uc010ket.3_Silent_p.I634I|NCOA7_uc003qah.3_Silent_p.I738I|NCOA7_uc003qak.3_Silent_p.I26I NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA. 749 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CATTTCAGATCATCACTGTTG 0.463000 12 4 0 0 0.00024832 0 0 ACSS3 79611 broad.mit.edu 37 12 81472039 81472039 + Missense_Mutation SNP G T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:81472039G>T uc001szl.1 + 0 231 c.140G>T c.(139-141)gGg>gTg p.G47V ACSS3_uc001szm.1_Missense_Mutation_p.G47V NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 47 mitochondrion ATP binding|acetate-CoA ligase activity p.L46F(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GGCGGTCTCGGGGGCCGGGGA 0.736000 3 5 3.59834e-05 0.000354 3.59834e-05 1 0 GHSR 2693 broad.mit.edu 37 3 172165570 172165570 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:172165570C>T uc003fib.2 - 0 677 c.634G>A c.(634-636)Gtc>Atc p.V212I GHSR_uc011bpv.2_Missense_Mutation_p.V212I NM_198407 NP_940799 Q92847 GHSR_HUMAN Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA. 212 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CACACCATGACCGTGAGCAGT 0.622000 27 9 0 0 0.000673444 0 0 UBC 7316 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T G G rs149119138 by1000genomes TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:21731144T>G uc002gyy.3 + 1 571 c.446T>G c.(445-447)cTg>cGg p.L149R P0CG48 UBC_HUMAN SubName: Full=Uncharacterized protein; 301 Ubiquitin-like 2. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.L149R(18)|p.R148S(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GTCCTGCGTCTGAGAGGTGGT 0.542000 57 4 0 0 0.00024832 0 0 DNAH11 8701 broad.mit.edu 37 7 21631164 21631164 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:21631164G>A uc003svc.3 + 13 2667 c.2636G>A c.(2635-2637)gGa>gAa p.G879E NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 879 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTAATCCAAGGAGATGGCTGC 0.423000 Kartagener syndrome 57 19 0 0 0.000175454 0 0 WDR93 56964 broad.mit.edu 37 15 90276242 90276242 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:90276242C>T uc002boj.3 + 12 1437 c.1336C>T c.(1336-1338)Cct>Tct p.P446S WDR93_uc010bnr.3_Intron|WDR93_uc010upz.2_Missense_Mutation_p.P163S NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN Homo sapiens WD repeat domain 93 (WDR93), mRNA. 446 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TCTAGGATTCCCTCTTGGGGT 0.512000 160 18 0 0 0.000958276 0 0 MRPL38 64978 broad.mit.edu 37 17 73898149 73898149 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:73898149C>T uc010wso.1 - 2 559 c.334G>A c.(334-336)Gag>Aag p.E112K FBF1_uc002jqa.1_Non-coding_Transcript|MRPL38_uc002jpz.1_Non-coding_Transcript NM_032478 NP_115867 Q96DV4 RM38_HUMAN Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA. 112 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCCGAAGCTCCTGGATGGCC 0.597000 14 23 0 0 0.000720815 0 0 DST 667 broad.mit.edu 37 6 56422233 56422233 + Nonsense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:56422233G>A uc003pcy.4 - 39 6763 c.6655C>T c.(6655-6657)Cag>Tag p.Q2219* NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 4631 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTACAGTCTGGAACTGGGTT 0.373000 26 6 0 0 3.59834e-05 0 0 DNAH7 56171 broad.mit.edu 37 2 196729046 196729046 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:196729046C>T uc002utj.4 - 40 7434 c.7333G>A c.(7333-7335)Gat>Aat p.D2445N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2445 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R2444L(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTGGTTTTATCCCGCTGGCGA 0.453000 24 11 0 0 0.000151284 0 0 TSPYL6 388951 broad.mit.edu 37 2 54483133 54483133 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:54483133G>A uc002rxr.2 - 0 277 c.156C>T c.(154-156)ccC>ccT p.P52P ACYP2_uc002rxq.4_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN Homo sapiens TSPY-like 6 (TSPYL6), mRNA. 52 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 CTGGAAGCCGGGGCGGTGGGA 0.607000 102 23 0 0 0.000878237 0 0 HIPK2 28996 broad.mit.edu 37 7 139416787 139416787 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:139416787G>A uc003vvf.4 - 1 318 c.47C>T c.(46-48)tCc>tTc p.S16F HIPK2_uc003vvd.4_Missense_Mutation_p.S16F NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA. 16 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction PML body|centrosome|nuclear membrane ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GGTGTGAGGGGAGAAAACTTG 0.463000 30 14 0 0 0.000422831 0 0 GBA3 57733 broad.mit.edu 37 4 22749269 22749269 + Nonsense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:22749269C>T uc003gqp.4 + 2 728 c.637C>T c.(637-639)Cga>Tga p.R213* GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Nonsense_Mutation_p.R214* NM_020973 NP_066024 Q9H227 GBA3_HUMAN Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA. 213 R -> P (in dbSNP:rs17612341). glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity p.R213*(2) breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTCCTTATTTCGAAAAAAGCA 0.473000 71 6 0 0 3.59834e-05 0 0 SULT2A1 6822 broad.mit.edu 37 19 48378071 48378071 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:48378071C>T uc002phr.2 - 4 728 c.588G>A c.(586-588)gaG>gaA p.E196E NM_003167 NP_003158 Q06520 ST2A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA. 196 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) GACAGATCTTCTCTATGGTTC 0.433000 74 17 0 0 0.000132079 0 0 NAP1L4 4676 broad.mit.edu 37 11 2979666 2979667 + Missense_Mutation DNP GG TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:2979666_2979667GG>TT uc010qxm.2 - 10 1138_1139 c.854_855CC>AA c.(853-855)ccc>cAA p.P285Q NAP1L4_uc001lxc.3_Missense_Mutation_p.P285Q|NAP1L4_uc010qxn.2_Missense_Mutation_p.P285Q NM_005969 NP_005960 Q99733 NP1L4_HUMAN Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA. 285 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) AGGACTCATTGGGTACTTGTTT 0.342000 586 14 0 0 6.4e-05 0 0 SLC27A2 11001 broad.mit.edu 37 15 50519357 50519357 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:50519357G>A uc001zxw.3 + 6 1671 c.1439G>A c.(1438-1440)aGa>aAa p.R480K SLC27A2_uc010bes.3_Missense_Mutation_p.R427K|SLC27A2_uc001zxx.3_Missense_Mutation_p.R245K NM_003645 NP_003636 O14975 S27A2_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA. 480 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TTCCACGACAGAGTTGGAGAT 0.393000 59 6 0 0 8.12818e-05 0 0 AFF2 2334 broad.mit.edu 37 X 148039955 148039955 + Missense_Mutation SNP C A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:148039955C>A uc004fcp.3 + 11 3136 c.2657C>A c.(2656-2658)cCa>cAa p.P886Q AFF2_uc004fcq.3_Missense_Mutation_p.P876Q|AFF2_uc004fcr.3_Missense_Mutation_p.P847Q|AFF2_uc011mxb.2_Missense_Mutation_p.P851Q|AFF2_uc004fcs.3_Missense_Mutation_p.P853Q|AFF2_uc011mxc.2_Missense_Mutation_p.P527Q NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 886 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TGCATCTCACCAGCCCCACCC 0.517000 44 10 1.33987e-11 1.33026e-10 0.000673444 1 0 PAPPA2 60676 broad.mit.edu 37 1 176734808 176734808 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:176734808C>T uc001gkz.3 + 14 5322 c.4158C>T c.(4156-4158)atC>atT p.I1386I PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1386 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 CCAGCTGTATCCATCGGCCCT 0.507000 46 38 0 0 0.000374591 0 0 FBLN2 2199 broad.mit.edu 37 3 13669404 13669404 + Missense_Mutation SNP T G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:13669404T>G uc011avc.2 + 10 2886 c.2504T>G c.(2503-2505)tTc>tGc p.F835C FBLN2_uc011auz.2_Missense_Mutation_p.F814C|FBLN2_uc011avb.2_Missense_Mutation_p.F788C|FBLN2_uc011ava.2_Missense_Mutation_p.F835C NM_001165035 NP_001158507 P98095 FBLN2_HUMAN Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA. 834 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AAGGGCTCCTTCTACTGCCAG 0.642000 63 8 0 0 0.000157383 0 0 GRK4 2868 broad.mit.edu 37 4 3029658 3029658 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:3029658C>T uc003ggn.1 + 10 1445 c.990C>T c.(988-990)gaC>gaT p.D330D GRK4_uc003ggo.1_Silent_p.D330D|GRK4_uc003ggp.1_Silent_p.D298D|GRK4_uc003ggq.1_Silent_p.D298D NM_182982 NP_892027 P32298 GRK4_HUMAN Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA. 330 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGATTTCAGACCTCGGTTTGG 0.493000 111 11 0 0 0.000219431 0 0 RGS3 5998 broad.mit.edu 37 9 116269666 116269666 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:116269666G>A uc004bhq.3 + 13 1394 c.1185G>A c.(1183-1185)tcG>tcA p.S395S RGS3_uc004bhr.3_Silent_p.S283S|RGS3_uc004bhs.3_Silent_p.S285S|RGS3_uc004bht.3_Silent_p.S114S|RGS3_uc010muy.3_Silent_p.S114S|RGS3_uc004bhu.3_Silent_p.S21S NM_144488 NP_652759 P49796 RGS3_HUMAN Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA. 395 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CCTGCAAGTCGACACATGACC 0.647000 45 22 0 0 0.000375601 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28327101 28327101 + Missense_Mutation SNP T G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:28327101T>G uc002ymg.3 - 1 1923 c.1194A>C c.(1192-1194)gaA>gaC p.E398D NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA. 398 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GGCCATCGTCTTCAATCACAG 0.517000 22 5 0 0 3.59834e-05 0 0 DSE 29940 broad.mit.edu 37 6 116720663 116720663 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:116720663G>A uc011ebg.2 + 1 406 c.307G>A c.(307-309)Gaa>Aaa p.E103K DSE_uc011ebf.1_Missense_Mutation_p.E84K|DSE_uc003pwq.1_Missense_Mutation_p.E84K|DSE_uc003pws.3_Missense_Mutation_p.E84K|DSE_uc003pwt.3_Missense_Mutation_p.E84K NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 84 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CAGCCCCTTGGAATACCTCCC 0.587000 27 9 0 0 0.000274275 0 0 FAM151A 338094 broad.mit.edu 37 1 55075104 55075104 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:55075104G>A uc001cxn.3 - 7 1727 c.1595C>T c.(1594-1596)tCc>tTc p.S532F ACOT11_uc001cxj.2_3'UTR|ACOT11_uc001cxl.2_3'UTR|ACOT11_uc001cxm.2_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA. 532 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 GGCCCGGGGGGAGGATGCCAG 0.647000 70 21 0 0 0.000229342 0 0 C1orf106 55765 broad.mit.edu 37 1 200877908 200877908 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:200877908C>T uc001gvo.3 + 6 922 c.880C>T c.(880-882)Cgg>Tgg p.R294W C1orf106_uc010ppm.2_Missense_Mutation_p.R209W NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 294 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CCCACCTTCTCGGCCTCTCCC 0.612000 223 14 0 0 0.000566183 0 0 ESPNP 284729 broad.mit.edu 37 1 17029294 17029294 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:17029294G>A uc001azn.1 - 5 1072 c.958C>T c.(958-960)Cca>Tca p.P320S Homo sapiens espin pseudogene (ESPNP), non-coding RNA. TTGGGAGATGGGTAGCTAggt 0.652000 47 6 0 0 8.12818e-05 0 0 SHANK2 22941 broad.mit.edu 37 11 70505998 70505998 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:70505998C>T uc001oqc.3 - 13 1916 c.1804G>A c.(1804-1806)Gag>Aag p.E602K SHANK2_uc010rqn.2_Missense_Mutation_p.E78K|SHANK2_uc001opz.3_Missense_Mutation_p.E78K|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.E78K NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 287 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor 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) TCCACGGACTCCAGGTACTGT 0.557000 27 10 0 0 0.000151284 0 0 ROBO3 64221 broad.mit.edu 37 11 124740156 124740156 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:124740156C>T uc001qbc.3 + 4 1031 c.862C>T c.(862-864)Cgt>Tgt p.R288C NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA. 288 Ig-like C2-type 3. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TCCCCCACCTCGTCTACGCTG 0.582000 23 12 0 0 0.000978159 0 0 CXorf21 80231 broad.mit.edu 37 X 30577915 30577915 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:30577915G>A uc022bui.1 - 0 558 c.558C>T c.(556-558)tcC>tcT p.S186S CXorf21_uc004dcg.2_Silent_p.S186S NM_025159 NP_079435 Q9HAI6 CX021_HUMAN Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA. 186 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 TTCTCCAATAGGATGAGTACC 0.443000 26 4 0 0 0.00024832 0 0 ADAM29 11086 broad.mit.edu 37 4 175896987 175896987 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:175896987G>A uc003iuc.3 + 4 981 c.311G>A c.(310-312)gGt>gAt p.G104D ADAM29_uc003iud.3_Missense_Mutation_p.G104D|ADAM29_uc010irr.3_Missense_Mutation_p.G104D|ADAM29_uc011cki.2_Missense_Mutation_p.G104D|ADAM29_uc021xuo.1_Missense_Mutation_p.G104D NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 104 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TACTATCATGGTTATGTGGAA 0.438000 12 4 0 0 0.000602214 0 0 ZNF786 136051 broad.mit.edu 37 7 148769496 148769496 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:148769496G>A uc003wfh.2 - 3 505 c.368C>T c.(367-369)tCc>tTc p.S123F ZNF786_uc011kuk.1_Missense_Mutation_p.S86F|ZNF786_uc003wfi.2_Missense_Mutation_p.S37F NM_152411 NP_689624 Q8N393 ZN786_HUMAN Homo sapiens zinc finger protein 786 (ZNF786), mRNA. 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S122S(1) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGATCCAAAGGAACACTGGCT 0.507000 16 17 0 0 0.000566183 0 0 NCEH1 57552 broad.mit.edu 37 3 172351310 172351310 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:172351310G>A uc011bpx.2 - 4 1440 c.1302C>T c.(1300-1302)atC>atT p.I434I NCEH1_uc003fig.3_Silent_p.I426I|NCEH1_uc011bpw.2_Silent_p.I261I|NCEH1_uc011bpy.2_Silent_p.I261I NM_001146276 NP_001139750 Q6PIU2 NCEH1_HUMAN Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA. 394 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 TCCTAGTCCGGATTCCCACTG 0.502000 46 6 0 0 8.12818e-05 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29907155 29907155 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:29907155C>T uc010vec.2 - 3 783 c.538G>A c.(538-540)Ggc>Agc p.G180S BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.G110S|SEZ6L2_uc002dur.4_Missense_Mutation_p.G110S|SEZ6L2_uc002duq.4_Missense_Mutation_p.G180S|SEZ6L2_uc010ved.2_Missense_Mutation_p.G136S|SEZ6L2_uc002dus.4_Intron NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 180 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane p.E179K(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TACCCTTCGCCCTCGGAGATG 0.567000 81 6 0 0 0.000157383 0 0 RPL7L1 285855 broad.mit.edu 37 6 42851233 42851233 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:42851233C>T uc003osq.1 + 2 170 c.165C>T c.(163-165)ttC>ttT p.F55F RPL7L1_uc011dux.1_Silent_p.F55F|RPL7L1_uc010jxw.1_5'UTR|RPL7L1_uc003osr.1_5'UTR|RPL7L1_uc011duy.1_Silent_p.F55F|RPL7L1_uc003ost.3_Silent_p.F55F|RPL7L1_uc003oss.2_5'UTR NM_198486 NP_940888 Q6DKI1 RL7L_HUMAN Homo sapiens ribosomal protein L7-like 1 (RPL7L1), mRNA. 55 translation large ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) TGGAATCATTCCTACATGATT 0.448000 96 16 0 0 0.000422831 0 0 SAMD9 54809 broad.mit.edu 37 7 92730882 92730882 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:92730882G>A uc003umf.3 - 2 4799 c.4529C>T c.(4528-4530)tCc>tTc p.S1510F SAMD9_uc003umg.3_Missense_Mutation_p.S1510F|SAMD9_uc022ahg.1_Missense_Mutation_p.S1510F NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1510 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTGCCACAAGGAATTAATATC 0.358000 29 7 0 0 8.12818e-05 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68250149 68250149 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:68250149G>A uc001xka.2 - 20 3859 c.3720C>T c.(3718-3720)tcC>tcT p.S1240S ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.S1240S NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 1240 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GGCTTTGCCGGGATGAGCAAA 0.592000 47 9 0 0 0.000274275 0 0 OSCP1 127700 broad.mit.edu 37 1 36887763 36887763 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:36887763G>A uc001caq.3 - 6 923 c.807C>T c.(805-807)gcC>gcT p.A269A OSCP1_uc021olk.1_Silent_p.A279A NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA. 279 transport basal plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 GGGTCCATGAGGCTAAGTTCT 0.473000 80 14 0 0 0.000308642 0 0 ZP4 57829 broad.mit.edu 37 1 238050772 238050772 + Missense_Mutation SNP A C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:238050772A>C uc001hym.3 - 4 930 c.643T>G c.(643-645)Ttg>Gtg p.L215V LOC100130331_uc010pyc.2_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA. 215 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.R214L(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CTAAGGGCCAAGCGCACAGAA 0.507000 123 15 0 0 0.000308642 0 0 COL6A3 1293 broad.mit.edu 37 2 238270405 238270405 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:238270405G>A uc002vwl.2 - 14 6418 c.6133C>T c.(6133-6135)Ccc>Tcc p.P2045S COL6A3_uc002vwo.2_Missense_Mutation_p.P1839S|COL6A3_uc010znj.1_Missense_Mutation_p.P1438S NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2045 Collagen-like 1.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGCCGATGGGCCCGCGGTCT 0.562000 127 18 0 0 0.000175454 0 0 C14orf43 91748 broad.mit.edu 37 14 74206073 74206074 + Missense_Mutation DNP GG AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:74206073_74206074GG>AA uc010tud.1 - 0 885_886 c.638_639CC>TT c.(637-639)ccc>cTT p.P213L C14orf43_uc001xot.3_Missense_Mutation_p.P213L|C14orf43_uc001xou.3_Missense_Mutation_p.P213L|C14orf43_uc010arw.2_Non-coding_Transcript NM_194278 NP_919254 Q6PJG2 CN043_HUMAN Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA. 213 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4) 37 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) AGGGTTGCAGGGGCAGTGACTG 0.644000 88 11 0 0 6.4e-05 0 0 DPYSL4 10570 broad.mit.edu 37 10 134016294 134016294 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:134016294G>A uc009ybb.3 + 11 1580 c.1426G>A c.(1426-1428)Gac>Aac p.D476N NM_006426 NP_006417 O14531 DPYL4_HUMAN Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA. 476 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) AACATTCCCGGACTTTGTCTA 0.622000 54 11 0 0 0.000978159 0 0 SLC28A1 9154 broad.mit.edu 37 15 85461754 85461754 + Splice_Site SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:85461754G>A uc002blg.3 + 10 998 c.796_splice c.e10-1 p.V266_splice SLC28A1_uc010upd.1_Splice_Site_p.V188_splice|SLC28A1_uc010bnb.3_Splice_Site_p.V266_splice|SLC28A1_uc010upe.2_Splice_Site_p.V266_splice|SLC28A1_uc010upf.1_Splice_Site_p.V266_splice|SLC28A1_uc010upg.1_Splice_Site_p.V266_splice NM_004213 NP_004204 O00337 S28A1_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA. 266 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) CTTCCCGGCAGGTTCTGCCCA 0.592000 148 23 0 0 0.000720815 0 0 HCN2 610 broad.mit.edu 37 19 603747 603747 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:603747C>T uc002lpe.3 + 1 889 c.836C>T c.(835-837)cCc>cTc p.P279L NM_001194 NP_001185 Q9UL51 HCN2_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA. 279 cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCCTGGACCCCGAGAAGATC 0.537000 51 13 0 0 0.000308642 0 0 TMEM211 255349 broad.mit.edu 37 22 25331491 25331491 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:25331491C>T uc003abk.1 - 2 224 c.199G>A c.(199-201)Gaa>Aaa p.E67K NM_001001663 NP_001001663 Q6ICI0 TM211_HUMAN Homo sapiens transmembrane protein 211 (TMEM211), mRNA. 138 integral to membrane endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 GAGGAGGCTTCGCACACTTCC 0.532000 40 28 0 0 0.000279167 0 0 BEST3 144453 broad.mit.edu 37 12 70049108 70049108 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:70049108G>A uc001svg.3 - 9 1813 c.1586C>T c.(1585-1587)tCt>tTt p.S529F BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.S316F|BEST3_uc010stm.2_Missense_Mutation_p.S423F NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 529 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TGTAAACTCAGAGCTCAAGAT 0.572000 48 13 0 0 0.00010058 0 0 BSND 7809 broad.mit.edu 37 1 55464879 55464880 + Missense_Mutation DNP TC GT GT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:55464879_55464880TC>GT uc001cye.3 + 0 263_264 c.20_21TC>GT c.(19-21)ttc>tGT p.F7C NM_057176 NP_476517 Q8WZ55 BSND_HUMAN Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA. 7 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex p.F7F(2) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 GAGAAGACCTTCCGGATCGGCT 0.614000 92 38 0 0 6.4e-05 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227493 56227493 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:56227493G>A uc002xyq.3 - 3 873 c.480C>T c.(478-480)ccC>ccT p.P160P PMEPA1_uc002xyr.3_Silent_p.P110P|PMEPA1_uc002xys.3_Silent_p.P125P|PMEPA1_uc002xyt.3_Silent_p.P110P NM_020182 NP_954640 Q969W9 PMEPA_HUMAN Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA. 160 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGCCCTGGTAGGGTGGGGGCT 0.662000 44 5 0 0 0.000157383 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806489 97806489 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:97806489C>T uc011bgs.2 + 0 473 c.473C>T c.(472-474)cCt>cTt p.P158L NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 TTCCTGCATCCTCTGGTTCAT 0.353000 90 14 0 0 0.000308642 0 0 SLAMF6 114836 broad.mit.edu 37 1 160460440 160460440 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:160460440G>A uc001fwe.2 - 3 752 c.682C>T c.(682-684)Ctg>Ttg p.L228L SLAMF6_uc010pji.2_Silent_p.L117L|SLAMF6_uc001fwd.2_Silent_p.L228L|SLAMF6_uc010pjh.2_Silent_p.L179L|SLAMF6_uc010pjj.2_Silent_p.L117L|SLAMF6_uc009wtm.2_3'UTR NM_001184714 NP_001171643 Q96DU3 SLAF6_HUMAN Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA. 228 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) ACCATAAACAGAATCATTTTG 0.368000 34 5 0 0 3.59834e-05 0 0 PDE6B 5158 broad.mit.edu 37 4 651250 651250 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:651250G>A uc003gap.3 + 9 1421 c.1368G>A c.(1366-1368)gtG>gtA p.V456V PDE6B_uc003gao.4_Silent_p.V456V|PDE6B_uc011buy.2_Silent_p.V177V|BC020343_uc003gaq.1_5'Flank NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 456 GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 TTTACCACGTGAAGTGCGACA 0.612000 66 8 0 0 0.000978159 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010224 73010224 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:73010224C>T uc003tyn.1 - 13 2182 c.2134G>A c.(2134-2136)Gag>Aag p.E712K MLXIPL_uc003tyj.1_Missense_Mutation_p.E91K|MLXIPL_uc003tyk.1_Missense_Mutation_p.E691K|MLXIPL_uc003tym.1_Missense_Mutation_p.E693K|MLXIPL_uc003tyl.1_Missense_Mutation_p.E710K|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.E618K NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 712 Leucine-zipper. anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TGGGCCTCCTCCTGCAAGCCC 0.627000 21 5 0 0 0.000602214 0 0 ADAM15 8751 broad.mit.edu 37 1 155026956 155026956 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:155026956C>T uc001fgr.1 + 5 687 c.586C>T c.(586-588)Ccc>Tcc p.P196S LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.P180S|ADAM15_uc010peu.1_Missense_Mutation_p.P213S|ADAM15_uc001fgx.1_Missense_Mutation_p.P196S|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.P196S|ADAM15_uc001fgs.1_Missense_Mutation_p.P196S|ADAM15_uc010pev.1_Missense_Mutation_p.P206S|ADAM15_uc001fgu.1_Missense_Mutation_p.P196S|ADAM15_uc001fgv.1_Missense_Mutation_p.P196S|ADAM15_uc001fgw.1_Missense_Mutation_p.P196S NM_207197 NP_997080 Q13444 ADA15_HUMAN Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA. 196 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) ACCAGAGCACCCCCTGGGACA 0.587000 99 9 0 0 0.00010058 0 0 OR4D6 219983 broad.mit.edu 37 11 59224633 59224633 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:59224633C>T uc010rku.2 + 0 200 c.200C>T c.(199-201)tCa>tTa p.S67L NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA. 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 CGGAACAAATCAGTCCTGGAC 0.468000 30 19 0 0 0.00074312 0 0 DIS3L 115752 broad.mit.edu 37 15 66615079 66615079 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:66615079G>A uc010ujm.2 + 9 1396 c.1381G>A c.(1381-1383)Gag>Aag p.E461K DIS3L_uc010ujl.1_Missense_Mutation_p.E91K|DIS3L_uc002app.3_Missense_Mutation_p.E378K|DIS3L_uc002apq.2_Missense_Mutation_p.E461K|DIS3L_uc010bho.3_Missense_Mutation_p.E327K NM_001143688 NP_588616 Q8TF46 DI3L1_HUMAN Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like (DIS3L), transcript variant 1, mRNA. 461 rRNA catabolic process cytoplasm|exosome (RNase complex) RNA binding|exonuclease activity|protein binding|ribonuclease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GAGTCCTGAAGAGGAACAAAA 0.428000 43 6 0 0 8.12818e-05 0 0 TPO 7173 broad.mit.edu 37 2 1459887 1459887 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:1459887G>A uc002qwr.3 + 6 738 c.652G>A c.(652-654)Gag>Aag p.E218K TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.E218K|TPO_uc002qwx.3_Missense_Mutation_p.E218K|TPO_uc002qwu.3_Missense_Mutation_p.E218K|TPO_uc010yio.2_Missense_Mutation_p.E218K|TPO_uc010yip.2_Missense_Mutation_p.E218K NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 218 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AGTTTCAAATGAGGTTGTCAC 0.512000 21 8 0 0 0.000442599 0 0 MLXIPL 51085 broad.mit.edu 37 7 73021319 73021319 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:73021319G>A uc003tyn.1 - 4 651 c.603C>T c.(601-603)ctC>ctT p.L201L MLXIPL_uc003tyk.1_Silent_p.L201L|MLXIPL_uc003tym.1_Silent_p.L201L|MLXIPL_uc003tyl.1_Silent_p.L201L|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Intron|MLXIPL_uc003tyq.1_5'Flank NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 201 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TAGGGGCCAGGAGGTCATCTT 0.597000 OREG0018107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 6 0 0 8.12818e-05 0 0 ARSI 340075 broad.mit.edu 37 5 149677575 149677575 + Silent SNP C T T rs142802678 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:149677575C>T uc003lrv.2 - 1 1501 c.912G>A c.(910-912)tcG>tcA p.S304S NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN Homo sapiens arylsulfatase family, member I (ARSI), mRNA. 304 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCTGCCCCCCGAGAAAGTCT 0.587000 34 12 0 0 0.00010058 0 0 KIAA0232 9778 broad.mit.edu 37 4 6865866 6865866 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:6865866C>T uc003gjr.4 + 6 4220 c.3757C>T c.(3757-3759)Cct>Tct p.P1253S KIAA0232_uc003gjq.4_Missense_Mutation_p.P1253S NM_014743 NP_055558 Q92628 K0232_HUMAN Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA. 1253 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 TTGTCAGTTTCCTGCTTATGA 0.378000 45 6 0 0 0.000157383 0 0 CD96 10225 broad.mit.edu 37 3 111325559 111325559 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:111325559C>T uc003dxw.3 + 8 1318 c.1148C>T c.(1147-1149)tCc>tTc p.S383F CD96_uc003dxv.3_Missense_Mutation_p.S367F|CD96_uc003dxx.3_Missense_Mutation_p.S367F|CD96_uc010hpy.1_Missense_Mutation_p.S367F NM_198196 NP_937839 P40200 TACT_HUMAN Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA. 383 Pro/Ser/Thr-rich. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TCTGAAATTTCCTCAACAGAC 0.358000 Opitz Trigonocephaly syndrome 24 6 0 0 3.59834e-05 0 0 F10 2159 broad.mit.edu 37 13 113803660 113803660 + Silent SNP C T T rs139031355 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:113803660C>T uc001vsx.3 + 7 1353 c.1296C>T c.(1294-1296)ttC>ttT p.F432F F10_uc001vsy.3_3'UTR NM_000504 NP_000495 P00742 FA10_HUMAN Homo sapiens coagulation factor X (F10), mRNA. 432 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACCTACTTCGTGACAGGCA 0.622000 80 11 0 0 0.000673444 0 0 DLK2 65989 broad.mit.edu 37 6 43420853 43420853 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:43420853C>T uc003ova.3 - 3 370 c.161G>A c.(160-162)gGg>gAg p.G54E DLK2_uc003ovb.3_Missense_Mutation_p.G54E NM_023932 NP_996262 Q6UY11 DLK2_HUMAN Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA. 54 EGF-like 1. integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) ACAGTGCAGCCCCTCCCAGCC 0.612000 21 4 0 0 0.00024832 0 0 EFNB3 1949 broad.mit.edu 37 17 7608943 7608943 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:7608943G>A uc002gis.3 + 0 424 c.27G>A c.(25-27)ggG>ggA p.G9G NM_001406 NP_001397 Q15768 EFNB3_HUMAN Homo sapiens ephrin-B3 (EFNB3), mRNA. 9 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) CTGGGCCGGGGGGCGTGCGAG 0.711000 12 9 0 0 0.000442599 0 0 NCAN 1463 broad.mit.edu 37 19 19360700 19360700 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:19360700G>A uc002nlz.3 + 14 4045 c.3946G>A c.(3946-3948)Gac>Aac p.D1316N NCAN_uc002nma.3_Silent_p.R71R NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 1316 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding p.D1316E(1) breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CTGGGAGAAGGACGAAGGGAA 0.537000 12 5 0 0 0.000602214 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172358 47172358 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:47172358G>A uc001rpi.2 - 10 1318 c.919C>T c.(919-921)Cat>Tat p.H307Y SLC38A4_uc001rpj.2_Missense_Mutation_p.H307Y NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 307 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CCACTGTCATGAAGAGAGCCC 0.478000 7 4 0 0 3.59834e-05 0 0 TRHDE 29953 broad.mit.edu 37 12 73012805 73012805 + Missense_Mutation SNP A G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:73012805A>G uc001sxa.3 + 12 2351 c.2321A>G c.(2320-2322)tAc>tGc p.Y774C NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 774 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ATGGAAAACTACAACATTTTC 0.333000 12 6 0 0 8.12818e-05 0 0 HIBADH 11112 broad.mit.edu 37 7 27565985 27565986 + Nonsense_Mutation DNP CC AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:27565985_27565986CC>AA uc003szf.3 - 7 1071_1072 c.858_859GG>TT c.(856-861)ctggga>ctTTga p.G287* HIBADH_uc003szg.3_Nonsense_Mutation_p.G238* NM_152740 NP_689953 P31937 3HIDH_HUMAN Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA. 287 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) TGTGCCAATCCCAGATCCTAAA 0.460000 126 7 0 0 6.4e-05 0 0 XPO6 23214 broad.mit.edu 37 16 28117463 28117463 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:28117463G>A uc002dpa.1 - 19 3186 c.2685C>T c.(2683-2685)atC>atT p.I895I XPO6_uc002dpb.1_Silent_p.I881I|XPO6_uc010vcp.1_Silent_p.I895I NM_015171 NP_055986 Q96QU8 XPO6_HUMAN Homo sapiens exportin 6 (XPO6), mRNA. 895 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CCACCTGCAGGATCTTCAGAA 0.592000 49 21 0 0 0.000229342 0 0 FAM47A 158724 broad.mit.edu 37 X 34148193 34148193 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:34148193C>T uc004ddg.3 - 0 2255 c.2203G>A c.(2203-2205)Gga>Aga p.G735R NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 735 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GCAATTGGTCCATAAAGATCG 0.428000 77 23 0 0 0.000586117 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421446 62421446 + Missense_Mutation SNP C G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:62421446C>G uc002ygv.2 - 1 866 c.665G>C c.(664-666)gGc>gCc p.G222A ZBTB46_uc002ygu.3_Non-coding_Transcript NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA. 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) AGGCCCGTAGCCCACGTCTCC 0.587000 40 5 0 0 8.12818e-05 0 0 HAL 3034 broad.mit.edu 37 12 96387588 96387588 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:96387588C>T uc001tem.1 - 6 810 c.513G>A c.(511-513)ggG>ggA p.G171G HAL_uc010sux.1_Silent_p.G171G|HAL_uc009zti.1_Intron|HAL_uc010suw.1_Intron NM_002108 NP_002099 P42357 HUTH_HUMAN Homo sapiens histidine ammonia-lyase (HAL), mRNA. 171 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) TGGCAAATTTCCCAAAACCTG 0.284000 42 5 0 0 0.000157383 0 0 OR6K6 128371 broad.mit.edu 37 1 158724725 158724725 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:158724725C>T uc001fsw.1 + 0 120 c.120C>T c.(118-120)ttC>ttT p.F40F NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA. 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TGACTGAGTTCCTCTTCTCTA 0.428000 86 11 0 0 0.000978159 0 0 NLRP2 55655 broad.mit.edu 37 19 55494629 55494629 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:55494629G>A uc021vbq.1 + 5 1674 c.1563G>A c.(1561-1563)gaG>gaA p.E521E NLRP2_uc010yfp.2_Silent_p.E498E|NLRP2_uc002qij.3_Silent_p.E521E|NLRP2_uc010esp.3_Silent_p.E499E|NLRP2_uc010esn.3_Silent_p.E497E|NLRP2_uc010eso.3_Silent_p.E518E NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 521 NACHT.|Poly-Glu. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGAAGGAGGAGGAAGAGGATA 0.567000 77 12 0 0 0.000308642 0 0 COL15A1 1306 broad.mit.edu 37 9 101765859 101765859 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:101765859G>A uc004azb.1 + 7 1396 c.1190G>A c.(1189-1191)gGg>gAg p.G397E NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 397 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CCAGAGGAAGGGGTCACTCCA 0.607000 37 6 0 0 3.59834e-05 0 0 AP1G2 8906 broad.mit.edu 37 14 24036410 24036410 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:24036410G>A uc001wkl.2 - 1 451 c.114C>T c.(112-114)tcC>tcT p.S38S AP1G2_uc001wkk.3_Intron|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Silent_p.S38S|AP1G2_uc010aks.3_5'UTR|AP1G2_uc010akt.3_5'UTR|AP1G2_uc010tnq.1_Non-coding_Transcript NM_003917 NP_003908 O75843 AP1G2_HUMAN Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA. 38 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CGTCGCGGAAGGAGGCCCGGA 0.632000 OREG0022606 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 8 0 0 0.000442599 0 0 CNTN5 53942 broad.mit.edu 37 11 99690287 99690287 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:99690287C>T uc001pga.3 + 3 572 c.68C>T c.(67-69)tCt>tTt p.S23F CNTN5_uc009ywv.2_Missense_Mutation_p.S23F|CNTN5_uc001pfz.3_Missense_Mutation_p.S23F|CNTN5_uc021qpb.1_Missense_Mutation_p.S23F|CNTN5_uc021qpc.1_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 23 S -> A (in dbSNP:rs10790978). cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TATTCAAAATCTCTTCCTGGT 0.323000 77 12 0 0 0.00010058 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373960 86373960 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:86373960G>A uc010sum.2 - 5 775 c.616C>T c.(616-618)Cta>Tta p.L206L MGAT4C_uc001tal.4_Silent_p.L182L|MGAT4C_uc001taj.4_Silent_p.L182L|MGAT4C_uc001tak.4_Silent_p.L182L|MGAT4C_uc001tai.4_Silent_p.L182L|MGAT4C_uc001tah.4_Silent_p.L182L NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA. 182 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AGGCCATCTAGGATTGGGTAA 0.373000 16 6 0 0 3.59834e-05 0 0 HIVEP1 3096 broad.mit.edu 37 6 12163947 12163947 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:12163947C>T uc003nac.3 + 8 7589 c.7410C>T c.(7408-7410)ggC>ggT p.G2470G HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 2470 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TTCCTATCGGCCAAATCCGCG 0.502000 41 7 0 0 8.12818e-05 0 0 C2orf55 343990 broad.mit.edu 37 2 99439605 99439605 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:99439605G>A uc002szf.1 - 6 1425 c.1131C>T c.(1129-1131)ccC>ccT p.P377P NM_207362 NP_997245 Q6NV74 CB055_HUMAN Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA. 377 Pro-rich. NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 ACGGGCCTGCGGGGGGCGCCT 0.751000 18 4 0 0 0.000602214 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734769 16734769 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:16734769C>T uc010vwr.1 - 2 806 c.364G>A c.(364-366)Gaa>Aaa p.E122K Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA. TTCAGGCCTTCCATCTGCATC 0.632000 50 7 0 0 0.000442599 0 0 POTEE 445582 broad.mit.edu 37 2 132021837 132021837 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:132021837G>A uc002tsn.2 + 14 2861 c.2809G>A c.(2809-2811)Gag>Aag p.E937K PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E537K|POTEE_uc002tsl.2_Missense_Mutation_p.E519K|POTEE_uc010fmy.1_Missense_Mutation_p.E401K NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 937 Actin-like. ATP binding p.E937K(1) CTCCTCCCTAGAGAAGAGCTA 0.627000 179 36 0 0 0.00111076 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922825 17922825 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:17922825G>A uc002nhl.1 + 2 1160 c.1013G>A c.(1012-1014)cGa>cAa p.R338Q B3GNT3_uc010ebd.1_Missense_Mutation_p.R338Q|B3GNT3_uc010ebe.1_Missense_Mutation_p.R338Q NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA. 338 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 TGCTTCTACCGAGACCTGCTG 0.612000 116 29 0 0 0.000227799 0 0 NLRP3 114548 broad.mit.edu 37 1 247587448 247587448 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:247587448C>T uc001icr.3 + 4 841 c.703C>T c.(703-705)Ctg>Ttg p.L235L NLRP3_uc001ics.3_Silent_p.L235L|NLRP3_uc001icu.3_Silent_p.L235L|NLRP3_uc001icw.3_Silent_p.L235L|NLRP3_uc001icv.3_Silent_p.L235L|NLRP3_uc010pyw.2_Silent_p.L233L|NLRP3_uc001ict.1_Silent_p.L233L NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 235 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAAAACAATCCTGGCCAGGAA 0.532000 56 10 0 0 0.000442599 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984761 41984761 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:41984761C>T uc003gwk.2 + 0 1049 c.952C>T c.(952-954)Ctg>Ttg p.L318L NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA. 318 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 GTCCGCCTATCTGCCCCTGCA 0.552000 64 16 0 0 0.000566183 0 0 MUC16 94025 broad.mit.edu 37 19 9068756 9068756 + Silent SNP T A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:9068756T>A uc002mkp.3 - 2 18894 c.18690A>T c.(18688-18690)acA>acT p.T6230T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6232 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.V6229V(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGGTGAGGTTGTCACAAGGA 0.488000 51 8 0 0 0.000274275 0 0 DDX10 1662 broad.mit.edu 37 11 108562663 108562663 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:108562663C>T uc001pkm.3 + 7 1101 c.1036C>T c.(1036-1038)Cat>Tat p.H346Y DDX10_uc001pkl.1_Missense_Mutation_p.H346Y NM_004398 NP_004389 Q13206 DDX10_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA. 346 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) CCTTGCACTCCATGGTCGACA 0.468000 T NUP98 AML* 28 14 0 0 0.000219431 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885041 12885041 + Missense_Mutation SNP T C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:12885041T>C uc001auk.2 - 3 1266 c.1070A>G c.(1069-1071)aAc>aGc p.N357S NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 357 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GCTCAGCAGGTTCTCCAGGGT 0.542000 125 78 0 0 0.000781405 0 0 PGC 5225 broad.mit.edu 37 6 41712205 41712205 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:41712205G>A uc003ora.2 - 2 325 c.258C>T c.(256-258)ttC>ttT p.F86F PGC_uc021yzm.1_Silent_p.F86F NM_002630 NP_002621 P20142 PEPC_HUMAN Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA. 86 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) AAAGGACCAGGAAGTTCTGGG 0.622000 68 16 0 0 0.000566183 0 0 MARCH1 55016 broad.mit.edu 37 4 164506904 164506904 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:164506904C>T uc003iqs.2 - 5 602 c.420G>A c.(418-420)cgG>cgA p.R140R MARCH1_uc003iqr.2_Silent_p.R123R NM_001166373 NP_001159845 Q8TCQ1 MARH1_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA. 140 antigen processing and presentation of peptide antigen via MHC class II|immune response Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.R123R(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ACTGTACCTTCCGGAGGGGTT 0.453000 38 7 0 0 0.000157383 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433836 72433836 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:72433836C>T uc004ebi.3 - 0 875 c.493G>A c.(493-495)Gaa>Aaa p.E165K NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 165 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TATTCACATTCCTCTTCTGTA 0.378000 57 41 0 0 0.000680045 0 0 GRB10 2887 broad.mit.edu 37 7 50682476 50682476 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:50682476G>A uc003tpi.2 - 8 1132 c.1086C>T c.(1084-1086)ctC>ctT p.L362L GRB10_uc003tph.3_Silent_p.L304L|GRB10_uc003tpj.2_Silent_p.L316L|GRB10_uc003tpk.2_Silent_p.L362L|GRB10_uc010kzb.2_Silent_p.L304L|GRB10_uc003tpl.2_Silent_p.L356L|GRB10_uc003tpm.2_Silent_p.L304L NM_005311 NP_005302 Q13322 GRB10_HUMAN Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA. 362 PH. insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane SH3/SH2 adaptor activity|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) CCTTTATGCAGAGCCCGTGGT 0.582000 Russell-Silver syndrome 141 18 0 0 0.000229342 0 0 ZNF683 257101 broad.mit.edu 37 1 26691131 26691131 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:26691131G>A uc001bmg.1 - 3 1024 c.906C>T c.(904-906)tcC>tcT p.S302S ZNF683_uc001bmh.1_Silent_p.S302S|ZNF683_uc009vsj.1_Silent_p.S302S NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA. 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S302F(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) TGCCTGTCTGGGAACTCAATG 0.587000 139 66 0 0 0.000781405 0 0 MAP3K15 389840 broad.mit.edu 37 X 19413209 19413209 + Missense_Mutation SNP C A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:19413209C>A uc022btq.1 - 15 2184 c.2184G>T c.(2182-2184)caG>caT p.Q728H MAP3K15_uc004czj.2_Missense_Mutation_p.Q163H|MAP3K15_uc004czk.2_Missense_Mutation_p.Q203H NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 728 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CTCCAGGCACCTGCTCCATAA 0.463000 50 14 9.31168e-06 9.17744e-05 0.000151284 1 0 SPA17 53340 broad.mit.edu 37 11 124545172 124545172 + Silent SNP A G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:124545172A>G uc001qap.3 + 1 148 c.12A>G c.(10-12)ccA>ccG p.P4P SIAE_uc001qan.3_5'Flank|SIAE_uc021qru.1_5'UTR|SIAE_uc001qao.2_5'Flank NM_017425 NP_059121 Q15506 SP17_HUMAN Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA. 4 binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis cytoplasm|flagellum|membrane|motile cilium|primary cilium cAMP-dependent protein kinase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 5 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223) TGTCGATTCCATTCTCCAACA 0.398000 65 39 0 0 0.000509022 0 0 DSEL 92126 broad.mit.edu 37 18 65181271 65181271 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:65181271C>T uc002lke.1 - 1 1829 c.605G>A c.(604-606)cGa>cAa p.R202Q LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.R202Q NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA. 192 integral to membrane isomerase activity|sulfotransferase activity p.R202Q(2)|p.R202*(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TTTTTGTCTTCGATGATTATC 0.398000 54 9 0 0 0.000673444 0 0 LY6H 4062 broad.mit.edu 37 8 144240439 144240439 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:144240439G>A uc003yxt.3 - 1 829 c.82C>T c.(82-84)Cca>Tca p.P28S LY6H_uc011lka.2_Intron|LY6H_uc011lkb.2_Intron|LY6H_uc011lkc.2_Intron O94772 LY6H_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA. 122 UPAR/Ly6. nervous system development|organ morphogenesis anchored to membrane|plasma membrane endometrium(1)|lung(1)|stomach(2) 4 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GGCACTCCTGGGAGAGCCCGA 0.711000 1 4 0 0 0.00024832 0 0 SDHAP1 255812 broad.mit.edu 37 3 195692311 195692311 + Missense_Mutation SNP T C C rs62282793 by1000genomes TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:195692311T>C uc003fvy.3 - 2 346 c.232A>G c.(232-234)Agc>Ggc p.S78G SDHAP1_uc003fvx.3_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA. TTCCCAGTGCTGACGTCCACA 0.607000 17 4 0 0 3.59834e-05 0 0 KCND2 3751 broad.mit.edu 37 7 119915143 119915143 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:119915143G>A uc003vjj.1 + 0 1422 c.457G>A c.(457-459)Gat>Aat p.D153N NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 153 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding p.A152A(1)|p.A152S(1)|p.A152E(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGACGACGCGGATACCGACAC 0.632000 73 11 0 0 0.000978159 0 0 OR2C3 81472 broad.mit.edu 37 1 247695301 247695301 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:247695301C>T uc021pmb.1 - 0 513 c.513G>A c.(511-513)ggG>ggA p.G171G C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.G171G NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGCAATTGTTCCCACACAGCG 0.562000 26 9 0 0 0.000442599 0 0 SMARCC1 6599 broad.mit.edu 37 3 47730890 47730890 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:47730890G>A uc003crq.2 - 12 1368 c.1250C>T c.(1249-1251)aCa>aTa p.T417I SMARCC1_uc011bbd.1_Missense_Mutation_p.T308I NM_003074 NP_003065 Q92922 SMRC1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA. 417 chromatin remodeling|nervous system development|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TCCTCCTGCTGTGACTGTTTC 0.398000 31 11 0 0 0.000151284 0 0 OTOGL 283310 broad.mit.edu 37 12 80750683 80750683 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:80750683C>T uc001szd.3 + 47 5987 c.5981C>T c.(5980-5982)tCc>tTc p.S1994F OTOGL_uc021rba.1_Missense_Mutation_p.S13F|OTOGL_uc009zsg.2_5'UTR NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGTTGTTTTTCCCCTTTTTGT 0.368000 11 5 0 0 0.000602214 0 0 MYO18B 84700 broad.mit.edu 37 22 26423473 26423473 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:26423473C>T uc003abz.1 + 42 7783 c.7533C>T c.(7531-7533)tcC>tcT p.S2511S MYO18B_uc003aca.1_Silent_p.S2392S|MYO18B_uc010guy.1_Silent_p.S2393S|MYO18B_uc010guz.1_Silent_p.S2391S|MYO18B_uc011aka.1_Silent_p.S1665S|MYO18B_uc011akb.1_Silent_p.S2024S|MYO18B_uc010gva.1_Silent_p.S494S|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2511 Poly-Ser. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CGTCCTCATCCTCCGGCTCCA 0.577000 21 19 0 0 0.000175454 0 0 PDK2 5164 broad.mit.edu 37 17 48185985 48185985 + Nonsense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:48185985C>T uc002iqc.3 + 8 1032 c.871C>T c.(871-873)Cga>Tga p.R291* PDK2_uc002iqb.3_Nonsense_Mutation_p.R227*|PDK2_uc021tzx.1_Nonsense_Mutation_p.R227* NM_002611 NP_001186828 Q15119 PDK2_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 291 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.R291R(2) central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 GATGAGTGACCGAGGTGGGGG 0.592000 Autosomal Dominant Polycystic Kidney Disease 15 31 0 0 0.000409698 0 0 SHH 6469 broad.mit.edu 37 7 155599242 155599243 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:155599242_155599243CC>TT uc003wmk.1 - 1 460_461 c.309_310GG>AA c.(307-312)aaggac>aaAAac p.D104N SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.D17N|SHH_uc003wmj.1_Missense_Mutation_p.D17N NM_000193 NP_000184 Q15465 SHH_HUMAN Homo sapiens sonic hedgehog (SHH), mRNA. 104 CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCAACTTGTCCTTACACCTCT 0.634000 52 11 0 0 6.4e-05 0 0 VWA2 340706 broad.mit.edu 37 10 116045915 116045915 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:116045915C>T uc001lbl.1 + 10 1536 c.1215C>T c.(1213-1215)gaC>gaT p.D405D VWA2_uc001lbk.1_Silent_p.D405D|VWA2_uc009xyf.1_Silent_p.D101D NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA. 405 VWFA 2. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) ATGTGCCTGACCTGGTCTGGA 0.687000 72 20 0 0 0.000229342 0 0 TRIM38 10475 broad.mit.edu 37 6 25983438 25983438 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:25983438C>T uc003nfm.3 + 7 1356 c.921C>T c.(919-921)ctC>ctT p.L307L TRIM38_uc010jqd.3_5'UTR NM_006355 NP_006346 O00635 TRI38_HUMAN Homo sapiens tripartite motif containing 38 (TRIM38), mRNA. 307 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 AACTAATTCTCTCTGAGGATC 0.433000 34 10 0 0 0.00010058 0 0 HMCN1 83872 broad.mit.edu 37 1 185963949 185963949 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:185963949C>T uc001grq.1 + 23 3737 c.3508C>T c.(3508-3510)Cct>Tct p.P1170S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 1170 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATTTCTAGTTCCTCCAAAGAT 0.393000 11 5 0 0 0.000602214 0 0 CCDC108 255101 broad.mit.edu 37 2 219888059 219888059 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:219888059G>A uc002vjl.1 - 15 2774 c.2690C>T c.(2689-2691)tCc>tTc p.S897F NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 897 MSP. integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCTGGTGGAGGAGCAGCC 0.632000 49 7 0 0 0.000157383 0 0 NALCN 259232 broad.mit.edu 37 13 101763483 101763483 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:101763483C>T uc001vox.1 - 18 2476 c.2287G>A c.(2287-2289)Gag>Aag p.E763K NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 763 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TACCTGCGCTCTTGGCGGATA 0.547000 40 11 0 0 0.00010058 0 0 WBSCR17 64409 broad.mit.edu 37 7 70885919 70885919 + Nonsense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:70885919C>T uc003tvy.3 + 4 790 c.790C>T c.(790-792)Cag>Tag p.Q264* WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 264 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ATCCCGCATCCAGGAAAACCG 0.537000 148 65 0 0 0.000781405 0 0 FGFBP1 9982 broad.mit.edu 37 4 15937835 15937835 + Nonsense_Mutation SNP T A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:15937835T>A uc003gom.3 - 2 716 c.421A>T c.(421-423)Aag>Tag p.K141* FGFBP1_uc021xml.1_Nonsense_Mutation_p.K141* NM_005130 NP_005121 Q14512 FGFP1_HUMAN Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA. 141 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 GGAAAATCCTTTCTGCACACT 0.468000 41 8 0 0 0.000274275 0 0 KL 9365 broad.mit.edu 37 13 33635042 33635042 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:33635042C>T uc001uus.3 + 3 1834 c.1826C>T c.(1825-1827)tCc>tTc p.S609F KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 609 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.Q608H(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GGTAACCAGTCCCAGGTGAAC 0.582000 76 8 0 0 0.000274275 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227583 56227583 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:56227583G>A uc002xyq.3 - 3 783 c.390C>T c.(388-390)ttC>ttT p.F130F PMEPA1_uc002xyr.3_Silent_p.F80F|PMEPA1_uc002xys.3_Silent_p.F95F|PMEPA1_uc002xyt.3_Silent_p.F80F NM_020182 NP_954640 Q969W9 PMEPA_HUMAN Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA. 130 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGAAGCGGTGGAAGCGCTCCC 0.711000 15 6 0 0 0.000157383 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485020 97485020 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:97485020G>A uc001vmw.3 + 1 1008 c.984G>A c.(982-984)atG>atA p.M328I NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA. 328 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TGACTTTCATGAACGAGAGTG 0.502000 41 8 0 0 0.000978159 0 0 ATR 545 broad.mit.edu 37 3 142172027 142172027 + Silent SNP T C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:142172027T>C uc003eux.4 - 45 7826 c.7704A>G c.(7702-7704)ccA>ccG p.P2568P ATR_uc003euy.1_Silent_p.P454P NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 2568 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GCCCTTTCACTGGTTTACTCC 0.368000 Other conserved DNA damage response genes 51 27 0 0 0.000409698 0 0 ADRA1D 146 broad.mit.edu 37 20 4202630 4202630 + Missense_Mutation SNP T C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:4202630T>C uc002wkr.2 - 1 1314 c.1259A>G c.(1258-1260)cAg>cGg p.Q420R NM_000678 NP_000669 P25100 ADA1D_HUMAN Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA. 420 DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) ACGACGGCACTGGCAGCGCAG 0.692000 7 3 0 0 6.4e-05 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779554 31779555 + Missense_Mutation DNP GG TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:31779554_31779555GG>TT uc003nxh.3 - 1 378_379 c.195_196CC>AA c.(193-198)ccccag>ccAAag p.Q66K HSPA1L_uc010jte.3_Missense_Mutation_p.Q66K|HSPA1L_uc021yuz.1_Missense_Mutation_p.Q66K NM_005527 NP_005518 P34931 HS71L_HUMAN Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA. 66 response to unfolded protein ATP binding p.Q66Q(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 ACAGTGTTCTGGGGATTCATTG 0.495000 520 15 0 0 6.4e-05 0 0 IGSF9B 22997 broad.mit.edu 37 11 133791039 133791039 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:133791039C>T uc001qgx.4 - 17 2812 c.2581G>A c.(2581-2583)Gac>Aac p.D861N NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 861 integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TCGGCAGGGTCCATCACGAAG 0.657000 46 25 0 0 0.000878237 0 0 GPR123 84435 broad.mit.edu 37 10 134898381 134898381 + Silent SNP C T T rs140828209 by1000genomes TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:134898381C>T uc001llw.3 + 7 1443 c.1443C>T c.(1441-1443)atC>atT p.I481I Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 230 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) AGGAAGGAATCGCACCTGGGG 0.622000 23 5 0 0 0.000602214 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003881 34003881 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:34003881C>T uc002yqh.2 - 31 4263 c.4263G>A c.(4261-4263)cgG>cgA p.R1421R SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.R1335R|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.4_Silent_p.R7R NM_003895 NP_003886 O43426 SYNJ1_HUMAN Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA. 1382 Pro-rich. RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GGGATTGACTCCGAGCTGGAA 0.468000 21 5 0 0 0.000602214 0 0 SLC4A10 57282 broad.mit.edu 37 2 162834230 162834230 + Splice_Site SNP A G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:162834230A>G uc002ubx.4 + 26 3529 c.3345_splice c.e26-2 p.S1115_splice SLC4A10_uc010zcs.2_Splice_Site_p.S1096_splice|SLC4A10_uc002uby.4_Splice_Site_p.S1085_splice NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 1115 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTTTGTCATAAGCTCCCCTTC 0.333000 63 11 0 0 0.00010058 0 0 PDHA2 5161 broad.mit.edu 37 4 96762141 96762141 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:96762141G>A uc003htr.4 + 0 903 c.840G>A c.(838-840)atG>atA p.M280I NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 280 M -> L (in dbSNP:rs2229137). glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCATACTGATGGAGCTGCAAA 0.458000 34 8 0 0 0.000157383 0 0 KCNN2 3781 broad.mit.edu 37 5 113740249 113740249 + Missense_Mutation SNP T C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:113740249T>C uc003kqo.3 + 2 1154 c.697T>C c.(697-699)Tat>Cat p.Y233H NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA. 233 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ACCTGGGAATTATACATTCAC 0.438000 33 7 0 0 0.000673444 0 0 PTPRF 5792 broad.mit.edu 37 1 44085235 44085235 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:44085235C>T uc001cjr.3 + 27 5263 c.4923C>T c.(4921-4923)ctC>ctT p.L1641L PTPRF_uc001cjs.3_Silent_p.L1632L|PTPRF_uc001cju.3_Silent_p.L1030L|PTPRF_uc009vwt.3_Silent_p.L1201L|PTPRF_uc001cjv.3_Silent_p.L1112L|PTPRF_uc001cjw.3_Silent_p.L867L NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1641 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCATGGAGCTCGAGTTCAAGG 0.652000 49 15 0 0 0.000229342 0 0 HABP2 3026 broad.mit.edu 37 10 115335690 115335690 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:115335690G>A uc001lai.4 + 3 361 c.258G>A c.(256-258)ggG>ggA p.G86G HABP2_uc021pyr.1_Silent_p.G60G|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.G75E NM_004132 NP_001171131 Q14520 HABP2_HUMAN Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA. 86 EGF-like 1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) AACACGGTGGGGACTGCCTCG 0.547000 88 21 0 0 0.000295444 0 0 ADAM29 11086 broad.mit.edu 37 4 175898651 175898651 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:175898651G>A uc003iuc.3 + 4 2645 c.1975G>A c.(1975-1977)Gga>Aga p.G659R ADAM29_uc003iud.3_Missense_Mutation_p.G659R|ADAM29_uc010irr.3_Missense_Mutation_p.G659R|ADAM29_uc011cki.2_Missense_Mutation_p.G659R|ADAM29_uc021xuo.1_Missense_Mutation_p.G659R NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 659 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AAAAGGCTATGGAGGTAGTGT 0.403000 10 4 0 0 0.000602214 0 0 CLEC4C 170482 broad.mit.edu 37 12 7894077 7894077 + Nonsense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:7894077G>A uc001qtg.1 - 2 349 c.175C>T c.(175-177)Cga>Tga p.R59* CLEC4C_uc001qth.1_Nonsense_Mutation_p.R59*|CLEC4C_uc001qti.1_Nonsense_Mutation_p.R28* NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA. 59 innate immune response integral to membrane sugar binding p.R59*(4)|p.R59L(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) TGATACTCTCGTAACTTGGAC 0.423000 149 37 0 0 0.000589545 0 0 XKR4 114786 broad.mit.edu 37 8 56435900 56435900 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:56435900C>T uc003xsf.3 + 2 1099 c.1067C>T c.(1066-1068)gCc>gTc p.A356V NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 356 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TACCAGAAGGCCCTCCGGGAC 0.572000 21 6 0 0 3.59834e-05 0 0 MUC2 4583 broad.mit.edu 37 11 1095748 1095748 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:1095748G>A uc001lsx.1 + 34 6274 c.6247G>A c.(6247-6249)Gag>Aag p.E2083K NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 4449 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|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;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGTGGAGTGTGAGCCGCCGCC 0.652000 7 5 0 0 3.59834e-05 0 0 POLD1 5424 broad.mit.edu 37 19 50906833 50906833 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:50906833C>T uc010eny.3 + 8 1222 c.1221C>T c.(1219-1221)atC>atT p.I407I POLD1_uc002psb.4_Silent_p.I407I|POLD1_uc002psc.4_Silent_p.I407I|POLD1_uc010enx.3_Non-coding_Transcript NM_002691 NP_002682 P28340 DPOD1_HUMAN Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA. 407 DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CGTACCTCATCTCTCGGGCCC 0.637000 DNA polymerases (catalytic subunits) 71 30 0 0 0.000409698 0 0 LMX1A 4009 broad.mit.edu 37 1 165183036 165183036 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:165183036C>T uc001gcz.2 - 4 705 c.511G>A c.(511-513)Gaa>Aaa p.E171K LMX1A_uc021pdz.1_Missense_Mutation_p.E171K|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank NM_001174069 NP_796372 Q8TE12 LMX1A_HUMAN Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA. 171 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) AGACTTTCTTCATCATCACTT 0.498000 125 7 0 0 0.000157383 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415711 105415711 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:105415711G>A uc010axc.1 - 6 6197 c.6077C>T c.(6076-6078)tCc>tTc p.S2026F AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S1926F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 2026 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCTGCATGGAGGGGAGACT 0.642000 164 38 0 0 0.000814825 0 0 MYF5 4617 broad.mit.edu 37 12 81112667 81112667 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:81112667C>T uc001szg.2 + 2 740 c.605C>T c.(604-606)tCc>tTc p.S202F NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 202 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 AACTCCTTATCCAGCTTGGAT 0.438000 67 33 0 0 0.00111076 0 0 KIR2DL5B 553128 broad.mit.edu 37 GL000209.1 95472 95472 + Splice_Site SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrGL000209.1:95472G>A uc002quk.1 + 8 914 c.859_splice c.e8-1 p.D287_splice KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank NM_001018081 NP_001018091 Q8NHK4 Q8NHK4_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA. 287 receptor activity CCTCTCTCCAGGACTCTGATG 0.498000 85 29 0 0 0.000491102 0 0 ZFP82 284406 broad.mit.edu 37 19 36884606 36884606 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:36884606G>A uc002ody.1 - 4 871 c.636C>T c.(634-636)caC>caT p.H212H NM_133466 NP_597723 Q8N141 ZFP82_HUMAN Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA. 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H212R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTCGAGTAAGGTGTGCAGTCT 0.423000 64 12 0 0 0.000978159 0 0 DCAF11 80344 broad.mit.edu 37 14 24588419 24588419 + Missense_Mutation SNP G C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:24588419G>C uc001wlv.3 + 8 1125 c.845G>C c.(844-846)gGa>gCa p.G282A DCAF11_uc001wlw.3_Missense_Mutation_p.G282A|DCAF11_uc001wlz.3_Missense_Mutation_p.G182A|DCAF11_uc001wly.3_Missense_Mutation_p.G238A|DCAF11_uc010tny.2_Missense_Mutation_p.G149A|DCAF11_uc001wmc.3_Missense_Mutation_p.G182A|DCAF11_uc001wmb.4_Missense_Mutation_p.G256A|DCAF11_uc001wma.4_Missense_Mutation_p.G282A NM_001163484 NP_079506 Q8TEB1 DCA11_HUMAN Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA. 282 CUL4 RING ubiquitin ligase complex protein binding GAAGTACTAGGAGGGTAAGTG 0.507000 126 24 0 0 0.000586117 0 0 AFF2 2334 broad.mit.edu 37 X 148044319 148044319 + Missense_Mutation SNP A C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:148044319A>C uc004fcp.3 + 12 3244 c.2765A>C c.(2764-2766)gAg>gCg p.E922A AFF2_uc004fcq.3_Missense_Mutation_p.E912A|AFF2_uc004fcr.3_Missense_Mutation_p.E883A|AFF2_uc011mxb.2_Missense_Mutation_p.E887A|AFF2_uc004fcs.3_Missense_Mutation_p.E889A|AFF2_uc011mxc.2_Missense_Mutation_p.E563A NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 922 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CCACTGCCAGAGGACCCTCCA 0.443000 6 6 0 0 0.000274275 0 0 WDR86 349136 broad.mit.edu 37 7 151082316 151082316 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:151082316G>A uc011kvk.1 - 3 1233 c.784C>T c.(784-786)Ctc>Ttc p.L262F WDR86_uc003wka.2_Intron|WDR86_uc003wkb.2_Intron|WDR86_uc003wkc.2_Intron Q86TI4 WDR86_HUMAN Homo sapiens WD repeat domain 86 (WDR86), mRNA. 262 breast(1)|endometrium(2)|kidney(1)|lung(6) 10 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCAGCTGCGAGGAGGAGCAGG 0.642000 47 10 0 0 0.000151284 0 0 STRA6 64220 broad.mit.edu 37 15 74472546 74472546 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:74472546C>T uc002axj.3 - 18 2356 c.1996G>A c.(1996-1998)Gga>Aga p.G666R STRA6_uc002axi.3_Missense_Mutation_p.G436R|STRA6_uc010ulh.2_Missense_Mutation_p.G665R|STRA6_uc002axk.3_Missense_Mutation_p.G627R|STRA6_uc002axl.3_Missense_Mutation_p.G559R|STRA6_uc010bji.3_Missense_Mutation_p.G627R|STRA6_uc021sqg.1_Missense_Mutation_p.G642R|STRA6_uc002axm.3_Missense_Mutation_p.G627R|STRA6_uc002axn.3_Missense_Mutation_p.G618R|STRA6_uc010uli.2_Missense_Mutation_p.G664R NM_001199042 NP_001185971 Q9BX79 STRA6_HUMAN Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA. 627 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 GGCCTAGCTCCCTTGGCCATG 0.637000 167 29 0 0 0.000814825 0 0 ZNF677 342926 broad.mit.edu 37 19 53740999 53740999 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:53740999G>A uc002qbg.1 - 4 1132 c.981C>T c.(979-981)gtC>gtT p.V327V ZNF677_uc002qbf.1_Silent_p.V327V NM_182609 NP_872415 Q86XU0 ZN677_HUMAN Homo sapiens zinc finger protein 677 (ZNF677), mRNA. 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TTTGACTACAGACCTTGCCAC 0.413000 31 5 0 0 0.000602214 0 0 SYT13 57586 broad.mit.edu 37 11 45267949 45267949 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:45267949C>T uc001myq.2 - 4 1087 c.961G>A c.(961-963)Gag>Aag p.E321K SYT13_uc009yku.1_Missense_Mutation_p.E177K NM_020826 NP_001234916 Q7L8C5 SYT13_HUMAN Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA. 321 C2 2. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CCCAGGAGCTCCTTGGACTGG 0.592000 22 16 0 0 0.000566183 0 0 KLHL1 57626 broad.mit.edu 37 13 70371056 70371056 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:70371056G>A uc001vip.3 - 6 2247 c.1453C>T c.(1453-1455)Ctg>Ttg p.L485L KLHL1_uc010thm.2_Silent_p.L424L NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA. 485 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.L485L(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TGGATCCACAGATTTGTTCTC 0.388000 58 10 0 0 0.00010058 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670604 131670604 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:131670604C>T uc004bwl.4 + 2 1415 c.1161C>T c.(1159-1161)tcC>tcT p.S387S LRRC8A_uc010myp.3_Silent_p.S387S|LRRC8A_uc010myq.3_Silent_p.S387S NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA. 387 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 CGCTCTACTCCAAGCGCTTCG 0.587000 48 27 0 0 0.000491102 0 0 KLC4 89953 broad.mit.edu 37 6 43030861 43030861 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:43030861G>A uc003otw.1 + 2 838 c.519G>A c.(517-519)caG>caA p.Q173Q KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otu.3_Silent_p.Q155Q|KLC4_uc003otv.1_Silent_p.Q155Q|KLC4_uc011dvd.1_Intron|KLC4_uc003otx.1_Silent_p.Q155Q|KLC4_uc003oty.1_Silent_p.Q155Q|KLC4_uc003otz.1_Silent_p.Q155Q NM_201523 NP_958930 Q9NSK0 KLC4_HUMAN Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA. 155 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) AGCTGCGGCAGTATGATGAGG 0.617000 38 5 0 0 8.12818e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 19 15 0 0 0.000422831 0 0 MYH8 4626 broad.mit.edu 37 17 10299683 10299683 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:10299683C>T uc002gmm.2 - 32 4712 c.4617G>A c.(4615-4617)gaG>gaA p.E1539E AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1539 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTTCACATTTCTCTTGTTCTA 0.373000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 33 8 0 0 0.000442599 0 0 NOS1 4842 broad.mit.edu 37 12 117768790 117768790 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:117768790C>T uc001twn.2 - 1 796 c.85G>A c.(85-87)Gga>Aga p.G29R NOS1_uc001twm.2_Missense_Mutation_p.G29R NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 29 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ACCAGAAATCCCAGGCCCCCA 0.562000 63 8 0 0 0.000157383 0 0 OR13C4 138804 broad.mit.edu 37 9 107289083 107289083 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:107289083C>T uc011lvn.2 - 0 408 c.408G>A c.(406-408)atG>atA p.M136I NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 CCACCTTGTTCATGATGATGG 0.458000 19 12 0 0 0.00010058 0 0 COL22A1 169044 broad.mit.edu 37 8 139734322 139734322 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:139734322C>T uc003yvd.3 - 25 2705 c.2258G>A c.(2257-2259)gGa>gAa p.G753E COL22A1_uc011ljo.2_Missense_Mutation_p.G53E NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 753 Collagen-like 5.|Gly-rich.|Pro-rich. GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075). cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCGTCCTTTCCAGGGGGTCC 0.478000 HNSCC(7;0.00092) 9 3 0 0 0.00024832 0 0 LDB2 9079 broad.mit.edu 37 4 16510260 16510260 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:16510260G>A uc003goz.3 - 6 1105 c.789C>T c.(787-789)tcC>tcT p.S263S LDB2_uc003gpa.3_Silent_p.S263S|LDB2_uc011bxh.2_Silent_p.S235S|LDB2_uc003gpb.3_Silent_p.S263S|LDB2_uc010iee.3_Silent_p.S263S|LDB2_uc011bxi.2_Silent_p.S139S NM_001290 NP_001281 O43679 LDB2_HUMAN Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA. 263 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TGCTGCTGGTGGAATTTTTCC 0.493000 16 6 0 0 3.59834e-05 0 0 ZNF560 147741 broad.mit.edu 37 19 9578369 9578369 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:9578369G>A uc002mlp.1 - 9 1464 c.1254C>T c.(1252-1254)ggC>ggT p.G418G ZNF560_uc010dwr.1_Silent_p.G312G NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GTTCAATAAGGCCTGCAGATG 0.433000 9 5 0 0 0.000602214 0 0 PTPRD 5789 broad.mit.edu 37 9 8504363 8504363 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:8504363C>T uc003zkk.3 - 22 2463 c.1720G>A c.(1720-1722)Gga>Aga p.G574R PTPRD_uc003zkp.3_Missense_Mutation_p.G574R|PTPRD_uc003zkq.3_Missense_Mutation_p.G574R|PTPRD_uc003zkr.3_Missense_Mutation_p.G568R|PTPRD_uc003zks.3_Missense_Mutation_p.G564R|PTPRD_uc022bdj.1_Missense_Mutation_p.G571R NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 574 Fibronectin type-III 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.G574*(5) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGTTTCAGTCCTTGCAGCCTA 0.443000 TSP Lung(15;0.13) 50 9 0 0 0.000151284 0 0 CCDC135 84229 broad.mit.edu 37 16 57764843 57764843 + Splice_Site SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:57764843G>A uc002emi.3 + 17 2481 c.2392_splice c.e17-1 p.E798_splice CCDC135_uc002emj.3_Splice_Site_p.E798_splice|CCDC135_uc002emk.3_Splice_Site_p.E733_splice NM_032269 NP_115645 Q8IY82 CC135_HUMAN Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA. 798 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 ATGACCACAGGAGACCCAGGA 0.572000 47 4 0 0 0.000602214 0 0 PRKAB2 5565 broad.mit.edu 37 1 146639510 146639510 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:146639510G>A uc001epe.3 - 2 304 c.159C>T c.(157-159)ctC>ctT p.L53L PRKAB2_uc010ozm.2_Intron|PRKAB2_uc010ozn.2_Intron|PRKAB2_uc009wjf.1_Silent_p.L53L NM_005399 NP_005390 O43741 AAKB2_HUMAN Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA. 53 carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.0487) Adenosine monophosphate(DB00131) TGTCCCCAGGGAGCTGTAAGA 0.512000 134 35 0 0 0.000692331 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028023 45028023 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:45028023C>T uc010ejn.1 - 2 484 c.468G>A c.(466-468)gtG>gtA p.V156V CEACAM20_uc010ejo.1_Silent_p.V156V|CEACAM20_uc010ejp.1_Silent_p.V156V|CEACAM20_uc010ejq.1_Silent_p.V156V NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 156 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ACTCACACTTCACATCCAGGA 0.527000 189 25 0 0 0.000586117 0 0 CPA1 1357 broad.mit.edu 37 7 130027801 130027801 + Silent SNP G C C rs113061008 byFrequency TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:130027801G>C uc003vpx.3 + 9 1281 c.1209G>C c.(1207-1209)acG>acC p.T403T NM_001868 NP_001859 P15085 CBPA1_HUMAN Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA. 403 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) CCAAGGAGACGTGGCTGGCGC 0.607000 166 33 0 0 0.000491102 0 0 COL6A3 1293 broad.mit.edu 37 2 238285803 238285803 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:238285803C>T uc002vwl.2 - 6 2967 c.2682G>A c.(2680-2682)caG>caA p.Q894Q COL6A3_uc002vwo.2_Silent_p.Q688Q|COL6A3_uc010znj.1_Silent_p.Q287Q|COL6A3_uc002vwq.3_Silent_p.Q688Q|COL6A3_uc002vwr.3_Silent_p.Q487Q|COL6A3_uc010znk.1_Silent_p.Q694Q NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 894 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CAGGCTTACTCTGGTGCTCAT 0.507000 98 31 0 0 0.000339439 0 0 ZNF530 348327 broad.mit.edu 37 19 58117970 58117970 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:58117970C>T uc002qpk.2 + 2 1297 c.1077C>T c.(1075-1077)tcC>tcT p.S359S ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN Homo sapiens zinc finger protein 530 (ZNF530), mRNA. 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTGGAAAATCCTTTAGCCATA 0.448000 59 9 0 0 0.000673444 0 0 INHBB 3625 broad.mit.edu 37 2 121106796 121106796 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:121106796G>A uc002tmn.2 + 1 616 c.570G>A c.(568-570)gaG>gaA p.E190E NM_002193 NP_002184 P09529 INHBB_HUMAN Homo sapiens inhibin, beta B (INHBB), mRNA. 190 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) ACGTCCTGGAGAAGGGCAGCC 0.582000 85 18 0 0 0.00074312 0 0 CDC7 8317 broad.mit.edu 37 1 91985787 91985787 + Missense_Mutation SNP T G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:91985787T>G uc001doe.3 + 10 1446 c.1281T>G c.(1279-1281)atT>atG p.I427M CDC7_uc001dof.3_Missense_Mutation_p.I427M|CDC7_uc010osw.2_Missense_Mutation_p.I399M|CDC7_uc009wdc.3_Missense_Mutation_p.I427M|CDC7_uc009wdd.3_Intron NM_003503 NP_003494 O00311 CDC7_HUMAN Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA. 427 Protein kinase. DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) TGGCCCAAATTATGACAATTA 0.358000 19 5 0 0 0.000602214 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022462 161022462 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:161022462G>A uc001fxl.3 - 6 1136 c.790C>T c.(790-792)Cca>Tca p.P264S ARHGAP30_uc001fxk.3_Missense_Mutation_p.P264S|ARHGAP30_uc001fxm.3_Missense_Mutation_p.P110S|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.P110S NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 264 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CGCATCTGTGGGGGTCCATCG 0.602000 49 19 0 0 0.00074312 0 0 FAM65C 140876 broad.mit.edu 37 20 49225065 49225065 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:49225065C>T uc010zyt.2 - 10 1068 c.817G>A c.(817-819)Gag>Aag p.E273K FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E269K|FAM65C_uc002xvn.1_Missense_Mutation_p.E269K NM_080829 NP_543019 Q96MK2 FA65C_HUMAN Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA. 269 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCCCGCAACTCCGTCACCTGG 0.682000 105 15 0 0 0.000422831 0 0 OSMR 9180 broad.mit.edu 37 5 38924659 38924659 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:38924659G>A uc003jln.2 + 13 2408 c.2006G>A c.(2005-2007)aGg>aAg p.R669K OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 669 Fibronectin type-III 4. 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) TCCAAGGCGAGGCAGTGCCAC 0.368000 40 10 0 0 0.000673444 0 0 SLFN13 146857 broad.mit.edu 37 17 33772553 33772553 + Silent SNP G C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:33772553G>C uc002hjk.1 - 0 477 c.147C>G c.(145-147)gcC>gcG p.A49A SLFN13_uc010wch.1_Silent_p.A49A|SLFN13_uc002hjl.2_Silent_p.A49A|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Intron NM_144682 NP_653283 Q68D06 SLN13_HUMAN Homo sapiens schlafen family member 13 (SLFN13), mRNA. 49 intracellular ATP binding p.R48L(1) 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) AAGCACACGCGGCCCGTATAA 0.483000 90 19 0 0 0.000132079 0 0 DNAH17 8632 broad.mit.edu 37 17 76471509 76471509 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:76471509G>A uc010dhp.2 - 53 8487 c.8362C>T c.(8362-8364)Cgc>Tgc p.R2788C DNAH17_uc002jvs.3_5'Flank NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCCAGGATGCGATTAATCCTG 0.602000 49 57 0 0 0.000781405 0 0 HOXB6 3216 broad.mit.edu 37 17 46673918 46673918 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:46673918C>T uc002ins.1 - 3 857 c.532G>A c.(532-534)Gag>Aag p.E178K HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB5_uc002inr.3_5'Flank|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB6_uc010dbh.1_Missense_Mutation_p.E178K|HOXB6_uc002int.1_3'UTR|HOXB-AS3_uc021tzk.1_Intron NM_018952 NP_061825 P17509 HXB6_HUMAN Homo sapiens homeobox B6 (HOXB6), mRNA. 178 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 TGCGCGATCTCGATGCGCCGC 0.602000 235 16 0 0 0.000132079 0 0 TMEM26 219623 broad.mit.edu 37 10 63170422 63170422 + Nonsense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:63170422C>T uc001jlo.2 - 5 1134 c.765G>A c.(763-765)tgG>tgA p.W255* TMEM26_uc001jlp.1_Non-coding_Transcript NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN Homo sapiens transmembrane protein 26 (TMEM26), mRNA. 255 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) TTCCGATGTTCCACAGATCGG 0.483000 15 5 0 0 3.59834e-05 0 0 ABCA5 23461 broad.mit.edu 37 17 67302982 67302982 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:67302982G>A uc002jif.2 - 4 1890 c.672C>T c.(670-672)taC>taT p.Y224Y ABCA5_uc002jig.2_Silent_p.Y224Y|ABCA5_uc002jih.2_Silent_p.Y224Y|ABCA5_uc010dfe.2_Silent_p.Y224Y NM_018672 NP_758424 Q8WWZ7 ABCA5_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA. 224 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CTATAACTAGGTATATTAAAA 0.323000 13 11 0 0 0.00010058 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519565 113519565 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:113519565C>T uc010ljy.1 - 3 1613 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 528 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CTTTGTTTTTCATTAACACCT 0.348000 7 5 0 0 3.59834e-05 0 0 COL5A1 1289 broad.mit.edu 37 9 137623968 137623968 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:137623968G>A uc004cfe.3 + 8 1766 c.1384G>A c.(1384-1386)Gag>Aag p.E462K NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 462 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.E462K(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGCGATTATCGAGCCGGTGAG 0.582000 66 18 0 0 0.00074312 0 0 ZEB1 6935 broad.mit.edu 37 10 31799743 31799743 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:31799743C>T uc001ivs.4 + 4 687 c.624C>T c.(622-624)acC>acT p.T208T ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Silent_p.T134T|ZEB1_uc010qeg.1_Silent_p.T67T|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Silent_p.T209T|ZEB1_uc010qeh.2_Silent_p.T141T|ZEB1_uc001ivv.4_Silent_p.T188T|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Silent_p.T191T|ZEB1_uc009xlp.3_Silent_p.T192T NM_030751 NP_110378 P37275 ZEB1_HUMAN Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA. 208 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GCAGTTACACCTTTGCATACA 0.378000 19 4 0 0 0.00024832 0 0 SCN3A 6328 broad.mit.edu 37 2 165947405 165947405 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:165947405C>T uc002ucx.3 - 27 5750 c.5258G>A c.(5257-5259)aGt>aAt p.S1753N SCN3A_uc010zcy.2_Missense_Mutation_p.S236N|SCN3A_uc002ucy.3_Missense_Mutation_p.S1704N|SCN3A_uc002ucz.3_Missense_Mutation_p.S1704N NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 1753 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GATGATGTAACTGACAAAAAA 0.483000 10 16 0 0 0.000422831 0 0 TYMS 7298 broad.mit.edu 37 18 672884 672885 + Missense_Mutation DNP CC GT GT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:672884_672885CC>GT uc010dka.1 + 6 968_969 c.829_830CC>GT c.(829-831)cca>GTa p.P277V TYMS_uc010dkb.1_Missense_Mutation_p.P243V|TYMS_uc010dkc.1_Missense_Mutation_p.P194V|ENOSF1_uc010dkf.3_3'UTR|ENOSF1_uc002kku.4_3'UTR|ENOSF1_uc002kkt.4_3'UTR|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_3'UTR NM_001071 NP_001062 P04818 TYSY_HUMAN Homo sapiens thymidylate synthetase (TYMS), mRNA. 277 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2) 8 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) CAGACCTTTCCCAAAGCTCAGG 0.386000 88 10 0 0 6.4e-05 0 0 MYLK4 340156 broad.mit.edu 37 6 2671570 2671570 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:2671570G>A uc003mty.4 - 11 1429 c.1132C>T c.(1132-1134)Cgt>Tgt p.R378C MYLK4_uc003mtx.4_Missense_Mutation_p.R93C NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA. 378 ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) TCAGAGCCACGATTCTTCTTC 0.473000 42 12 0 0 0.000422831 0 0 SPRY2 10253 broad.mit.edu 37 13 80911809 80911809 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:80911809G>A uc001vli.3 - 1 1010 c.32C>T c.(31-33)tCg>tTg p.S11L SPRY2_uc001vlj.3_Missense_Mutation_p.S11L|SPRY2_uc021rkz.1_Missense_Mutation_p.S11L NM_005842 NP_005833 O43597 SPY2_HUMAN Homo sapiens sprouty homolog 2 (Drosophila) (SPRY2), mRNA. 11 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) CAAGGGCTGCGACCCGTTGCC 0.607000 55 17 0 0 0.000566183 0 0 FAM179A 165186 broad.mit.edu 37 2 29256429 29256429 + Splice_Site SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:29256429G>A uc010ezl.3 + 16 2576 c.2225_splice c.e16+1 p.G742_splice FAM179A_uc010ymm.2_Splice_Site_p.G687_splice|FAM179A_uc002rmr.4_Splice_Site_p.G269_splice|FAM179A_uc002rms.1_Splice_Site_p.G40_splice NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 742 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATCAAGGAGGGGTATGGCTGC 0.537000 20 8 0 0 0.000274275 0 0 SLC22A10 387775 broad.mit.edu 37 11 63064784 63064784 + Silent SNP A C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:63064784A>C uc009yor.3 + 2 724 c.516A>C c.(514-516)cgA>cgC p.R172R SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA. 172 integral to membrane transmembrane transporter activity p.G171W(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGTTTGGGCGAAGATTTATTC 0.408000 23 10 0 0 0.000151284 0 0 TLR1 7096 broad.mit.edu 37 4 38798570 38798570 + Missense_Mutation SNP A G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:38798570A>G uc003gtl.3 - 3 2157 c.1883T>C c.(1882-1884)tTa>tCa p.L628S TLR1_uc021xnn.1_Missense_Mutation_p.L628S NM_003263 NP_003254 Q15399 TLR1_HUMAN Homo sapiens toll-like receptor 1 (TLR1), mRNA. 628 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 GAGTTCTTCTAAGGGTATGTT 0.483000 35 8 0 0 0.000442599 0 0 DNAH10 196385 broad.mit.edu 37 12 124350537 124350537 + Nonsense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:124350537C>T uc001uft.4 + 39 6755 c.6730C>T c.(6730-6732)Cga>Tga p.R2244* NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 2244 AAA 2 (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) AACTGTCTCTCGATGTGGAAT 0.338000 99 18 0 0 0.000229342 0 0 KRT12 3859 broad.mit.edu 37 17 39021204 39021204 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:39021204C>T uc002hvk.2 - 2 685 c.661G>A c.(661-663)Gaa>Aaa p.E221K NM_000223 NP_000214 Q99456 K1C12_HUMAN Homo sapiens keratin 12 (KRT12), mRNA. 221 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) AGGGCCAGTTCATTCTCATAC 0.537000 40 6 0 0 8.12818e-05 0 0 GFAP 2670 broad.mit.edu 37 17 42992741 42992741 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:42992741G>A uc021tyh.1 - 0 180 c.114C>T c.(112-114)tcC>tcT p.S38S GFAP_uc002ihq.3_Silent_p.S38S|GFAP_uc002ihr.3_Silent_p.S38S|GFAP_uc010wjg.2_Non-coding_Transcript NM_001242376 NP_001229305 P14136 GFAP_HUMAN Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA. 38 Head. cytoplasm|intermediate filament structural constituent of cytoskeleton p.S38F(2) endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) TTCGAGCCAGGGAGAGGCGGG 0.692000 19 17 0 0 0.000375601 0 0 ZNF454 285676 broad.mit.edu 37 5 178373936 178373936 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:178373936G>A uc003mjo.2 + 3 500 c.199G>A c.(199-201)Gaa>Aaa p.E67K ZNF454_uc010jkz.2_Missense_Mutation_p.E67K|ZNF454_uc021yjc.1_Missense_Mutation_p.E67K|ZNF454_uc003mjp.3_Missense_Mutation_p.R102K NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA. 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TTCCCAGCTAGAAAAAAGGGA 0.483000 124 23 0 0 0.000184323 0 0 BPIFA1 51297 broad.mit.edu 37 20 31826004 31826004 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:31826004C>T uc002wyt.4 + 2 374 c.304C>T c.(304-306)Ctg>Ttg p.L102L BPIFA1_uc002wyu.4_Silent_p.L102L|BPIFA1_uc002wyv.3_Silent_p.L102L NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA. 102 innate immune response extracellular region lipid binding GATTCCTGGCCTGAACAACAT 0.542000 79 12 0 0 0.000422831 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65226364 65226365 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:65226364_65226365CC>TT uc002aoa.3 + 8 826_827 c.797_798CC>TT c.(796-798)gcc>gTT p.A266V ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Missense_Mutation_p.A175V NM_182703 NP_874362 Q495B1 AKD1A_HUMAN Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA. 266 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CACTATGCAGCCCTCAGTGGCT 0.525000 109 20 0 0 6.4e-05 0 0 TCRB 0 broad.mit.edu 37 7 142099663 142099663 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:142099663C>T uc003vyz.1 - 1 139 c.139G>A c.(139-141)Ggt>Agt p.G47S TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.G47S SubName: Full=Uncharacterized protein; GATACATGACCCGAAATTGGA 0.507000 41 20 0 0 0.000175454 0 0 KHSRP 8570 broad.mit.edu 37 19 6418740 6418740 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:6418740C>T uc002mer.4 - 7 863 c.753G>A c.(751-753)aaG>aaA p.K251K KHSRP_uc021unp.1_5'Flank NM_003685 NP_003676 Q92945 FUBP2_HUMAN Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA. 251 Gly-rich.|KH 2. RNA splicing, via transesterification reactions|mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|RNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 TCTCCCCGCCCTTGCCAATGA 0.672000 62 8 0 0 0.000673444 0 0 T 6862 broad.mit.edu 37 6 166578292 166578292 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:166578292C>T uc003qut.1 - 3 950 c.664G>A c.(664-666)Gaa>Aaa p.E222K T_uc003quu.1_Missense_Mutation_p.E222K|T_uc003quv.1_Missense_Mutation_p.E222K NM_003181 NP_003172 O15178 BRAC_HUMAN Homo sapiens T, brachyury homolog (mouse) (T), mRNA. 222 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TCTCACCTTTCCTTTGCATCA 0.318000 Chordoma, Familial Clustering of 85 11 0 0 0.00010058 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471823 47471823 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:47471823G>A uc001rpm.3 - 2 1618 c.963C>T c.(961-963)ttC>ttT p.F321F FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.F321F|AMIGO2_uc001rpl.3_Silent_p.F321F|AMIGO2_uc021qxg.1_Silent_p.F321F NM_001143668 NP_862830 Q86SJ2 AMGO2_HUMAN Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA. 321 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) CCACCCAGATGAAATCCGTAT 0.463000 124 23 0 0 0.000878237 0 0 OR1I1 126370 broad.mit.edu 37 19 15197931 15197931 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:15197931G>A uc010xoe.2 + 0 55 c.55G>A c.(55-57)Gaa>Aaa p.E19K NM_001004713 NP_001004713 O60431 OR1I1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA. 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 GGGACTCTCAGAAAAGCCAGA 0.468000 56 12 0 0 0.00010058 0 0 CD2 914 broad.mit.edu 37 1 117307203 117307203 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:117307203G>A uc001egu.4 + 3 740 c.711G>A c.(709-711)agG>agA p.R237R CD2_uc010owz.1_Silent_p.R237R|CD2_uc010oxa.1_3'UTR NM_001767 NP_001758 P06729 CD2_HUMAN Homo sapiens CD2 molecule (CD2), mRNA. 237 T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) TCACCAAAAGGAAAAAACAGA 0.493000 58 25 0 0 0.00047179 0 0 RNPEP 6051 broad.mit.edu 37 1 201970810 201970810 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:201970810C>T uc001gxd.3 + 7 1370 c.1341C>T c.(1339-1341)ttC>ttT p.F447F RNPEP_uc001gxe.3_Silent_p.F148F NM_020216 NP_064601 Q9H4A4 AMPB_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA. 447 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) AATTCAAATTCCGAAGCATCT 0.493000 244 54 0 0 0.000781405 0 0 DEPDC4 120863 broad.mit.edu 37 12 100656056 100656056 + Missense_Mutation SNP C T T rs145497556 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:100656056C>T uc009ztv.1 - 2 689 c.686G>A c.(685-687)cGg>cAg p.R229Q DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Missense_Mutation_p.R229Q|DEPDC4_uc001thj.1_Missense_Mutation_p.R162Q|DEPDC4_uc001thk.1_Missense_Mutation_p.R40Q|DEPDC4_uc001thl.1_Non-coding_Transcript NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN Homo sapiens DEP domain containing 4 (DEPDC4), mRNA. 229 intracellular signal transduction p.L228I(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 TTTTGAAAGCCGGAGAAAAGG 0.343000 50 10 0 0 0.000673444 0 0 PDE6C 5146 broad.mit.edu 37 10 95380650 95380650 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:95380650C>T uc001kiu.4 + 2 774 c.636C>T c.(634-636)gtC>gtT p.V212V NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 212 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GTCTGTAGGTCTTTTCCAAAT 0.413000 191 26 0 0 0.000184323 0 0 GRIK3 2899 broad.mit.edu 37 1 37270629 37270629 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:37270629C>T uc001caz.2 - 14 2659 c.2524G>A c.(2524-2526)Gag>Aag p.E842K GRIK3_uc001cba.1_Missense_Mutation_p.E842K NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 842 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TACACAAACTCGCCCACGGCC 0.572000 61 10 0 0 0.000442599 0 0 CDH22 64405 broad.mit.edu 37 20 44869812 44869812 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:44869812C>T uc002xrm.2 - 1 739 c.340G>A c.(340-342)Gag>Aag p.E114K CDH22_uc010ghk.1_Missense_Mutation_p.E114K NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN Homo sapiens cadherin 22, type 2 (CDH22), mRNA. 114 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D113N(1)|p.D113D(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CCTGTCAGCTCGTCGATCAGG 0.622000 40 5 0 0 0.000602214 0 0 DPP3 10072 broad.mit.edu 37 11 66249829 66249829 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:66249829C>T uc001oig.1 + 1 220 c.158C>T c.(157-159)tCc>tTc p.S53F DPP3_uc001oif.1_Missense_Mutation_p.S53F|DPP3_uc010rpe.1_Missense_Mutation_p.S72F NM_005700 NP_569710 Q9NY33 DPP3_HUMAN Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA. 53 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 CTTCAGACCTCCCCTGAGGCC 0.667000 38 17 0 0 0.00074312 0 0 COPA 1314 broad.mit.edu 37 1 160275485 160275485 + Silent SNP G C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:160275485G>C uc001fvv.4 - 15 1915 c.1521C>G c.(1519-1521)gcC>gcG p.A507A COPA_uc009wti.3_Silent_p.A507A|COPA_uc009wtj.1_Silent_p.A453A NM_001098398 NP_001091868 P53621 COPA_HUMAN Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA. 507 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CACCGTGTTTGGCTAGTAGTG 0.458000 106 20 0 0 0.000375601 0 0 CNGA2 1260 broad.mit.edu 37 X 150912208 150912208 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:150912208G>A uc004fey.1 + 6 1457 c.1233G>A c.(1231-1233)agG>agA p.R411R NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 411 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) AGGTCATTAGGTGGTTTGACT 0.502000 30 12 0 0 0.000219431 0 0 INSM1 3642 broad.mit.edu 37 20 20350318 20350318 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:20350318C>T uc002wrx.3 + 0 1554 c.1407C>T c.(1405-1407)ttC>ttT p.F469F NM_002196 NP_002187 Q01101 INSM1_HUMAN Homo sapiens insulinoma-associated 1 (INSM1), mRNA. 469 endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding liver(1)|lung(3)|ovary(1)|prostate(1) 6 READ - Rectum adenocarcinoma(2;0.0649) CCCAGGTGTTCCCCTGCAAGT 0.662000 31 6 0 0 8.12818e-05 0 0 HERC1 8925 broad.mit.edu 37 15 63986245 63986245 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:63986245G>A uc002amp.3 - 29 5740 c.5592C>T c.(5590-5592)ttC>ttT p.F1864F NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 1864 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ccccttctccGAAAGAGGCCA 0.403000 13 4 0 0 0.00024832 0 0 IL20RB 53833 broad.mit.edu 37 3 136676961 136676961 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:136676961G>A uc003eri.2 + 0 255 c.6G>A c.(4-6)caG>caA p.Q2Q IL20RB_uc003erj.2_Non-coding_Transcript NM_144717 NP_653318 Q6UXL0 I20RB_HUMAN Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA. 2 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 ACCAAATGCAGACTTTCACAA 0.368000 26 10 0 0 0.000978159 0 0 HN1L 90861 broad.mit.edu 37 16 1748899 1748899 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:1748899C>T uc010uvi.2 + 5 593 c.557C>T c.(556-558)cCc>cTc p.P186L HN1L_uc002cmg.3_Missense_Mutation_p.P158L|HN1L_uc010brt.3_Non-coding_Transcript|HN1L_uc010bru.3_3'UTR|HN1L_uc010uvj.2_3'UTR|HN1L_uc010uvk.2_Missense_Mutation_p.P145L NM_144570 NP_653171 Q9H910 HN1L_HUMAN Homo sapiens hematological and neurological expressed 1-like (HN1L), mRNA. 158 cytoplasm|nucleus endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 9 GAGCCCATGCCCACAGTCGAC 0.632000 92 23 0 0 0.000295444 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43653937 43653938 + Missense_Mutation DNP CG AT AT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:43653937_43653938CG>AT uc001zrk.1 - 4 2039_2040 c.1892_1893CG>AT c.(1891-1893)ccg>cAT p.P631H ZSCAN29_uc001zrj.1_Missense_Mutation_p.P511H|ZSCAN29_uc010bdg.1_Missense_Mutation_p.P241H|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA. 631 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) AGCTCTTCTCCGGGAGTGTCAG 0.470000 164 8 0 0 6.4e-05 0 0 WDR20 91833 broad.mit.edu 37 14 102661347 102661347 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:102661347C>T uc010txu.2 + 1 394 c.322C>T c.(322-324)Cac>Tac p.H108Y WDR20_uc001ylf.3_Missense_Mutation_p.H120Y|WDR20_uc001ykz.3_Missense_Mutation_p.H108Y|WDR20_uc001yky.2_5'UTR|WDR20_uc001yla.3_Intron|WDR20_uc001ylb.3_Intron|WDR20_uc001ylc.3_Missense_Mutation_p.H108Y|WDR20_uc001yle.3_Intron|WDR20_uc001yld.3_Missense_Mutation_p.H108Y NM_001242417 NP_001229346 Q8TBZ3 WDR20_HUMAN Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA. 108 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 TGACTTCAACCACCTAACAGC 0.418000 70 8 0 0 0.000157383 0 0 BDP1 55814 broad.mit.edu 37 5 70806623 70806623 + Missense_Mutation SNP C T T rs5868598 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:70806623C>T uc003kbp.1 + 16 3967 c.3704C>T c.(3703-3705)tCc>tTc p.S1235F BDP1_uc003kbn.1_Missense_Mutation_p.S1235F|BDP1_uc003kbo.3_Missense_Mutation_p.S1235F NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 1235 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GAAGAAATTTCCCAAAGGGAA 0.398000 47 13 0 0 0.00010058 0 0 TAF7 6879 broad.mit.edu 37 5 140699252 140699252 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:140699252C>T uc003ljg.3 - 0 1100 c.360G>A c.(358-360)aaG>aaA p.K120K NM_005642 NP_005633 Q15545 TAF7_HUMAN Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA. 120 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATCCTTTTTCTTGCTTGCTT 0.438000 97 14 0 0 0.000151284 0 0 IL1RL1 9173 broad.mit.edu 37 2 102965638 102965638 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:102965638C>T uc002tbu.1 + 9 1488 c.1217C>T c.(1216-1218)cCt>cTt p.P406L IL18R1_uc002tbw.4_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 406 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 CAGATTCTGCCTGATGTTCTT 0.418000 32 10 0 0 0.000978159 0 0 HES1 3280 broad.mit.edu 37 3 193855629 193855629 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:193855629C>T uc003ftq.2 + 3 689 c.450C>T c.(448-450)atC>atT p.I150I NM_005524 NP_005515 Q14469 HES1_HUMAN Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA. 150 Notch signaling pathway|endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) TGACCCAGATCAATGCCATGA 0.716000 60 10 0 0 0.000978159 0 0 DUSP27 92235 broad.mit.edu 37 1 167096537 167096537 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:167096537C>T uc001geb.1 + 4 2185 c.2169C>T c.(2167-2169)atC>atT p.I723I NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 723 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TTGCCAGTATCCAGAACTGGA 0.542000 65 30 0 0 0.00058488 0 0 CIR1 9541 broad.mit.edu 37 2 175246495 175246496 + Nonsense_Mutation DNP CC AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:175246495_175246496CC>AA uc002uim.3 - 2 270_271 c.177_178GG>TT c.(175-180)atggga>atTTga p.59_60MG>I* CIR1_uc002uin.3_5'UTR NM_004882 NP_004873 Q86X95 CIR1_HUMAN Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA. 59 Interaction with RBPJ. RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 CGTTCATCTCCCATAAGCAATC 0.342000 392 12 0 0 6.4e-05 0 0 POTEF 728378 broad.mit.edu 37 2 130832707 130832707 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:130832707C>T uc010fmh.2 - 16 2738 c.2338G>A c.(2338-2340)Gat>Aat p.D780N NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 780 Actin-like. cell cortex ATP binding p.W779C(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TCCATGTCATCCCAGTTGGTG 0.572000 87 34 0 0 0.000270559 0 0 FAM153B 202134 broad.mit.edu 37 5 175530757 175530757 + Splice_Site SNP A C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:175530757A>C uc003mdk.3 + 14 793 c.736_splice c.e14-2 p.T246_splice FAM153B_uc021yic.1_Splice_Site NM_001079529 NP_001072997 P0C7A2 F153B_HUMAN Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA. 246 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) CTGTCGTTACAGACATCCTTG 0.448000 64 12 0 0 0.000958276 0 0 PPFIA4 8497 broad.mit.edu 37 1 203015102 203015102 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:203015102C>T uc009xaj.3 + 11 1433 c.1433C>T c.(1432-1434)tCc>tTc p.S478F PPFIA4_uc010pqf.2_Missense_Mutation_p.S38F O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 259 SAM 2. 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 AACAAGGAGTCCCTGCACCGC 0.577000 210 42 0 0 0.000781405 0 0 TBC1D23 55773 broad.mit.edu 37 3 100009430 100009431 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:100009430_100009431CC>TT uc003dtt.3 + 4 662_663 c.485_486CC>TT c.(484-486)tcc>tTT p.S162F TBC1D23_uc003dts.3_Missense_Mutation_p.S162F NM_001199198 NP_001186127 Q9NUY8 TBC23_HUMAN Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA. 162 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 AGGGATTGTTCCCAGAAAGGGA 0.391000 43 9 0 0 6.4e-05 0 0 SCN10A 6336 broad.mit.edu 37 3 38768220 38768220 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:38768220G>A uc003ciq.3 - 15 2964 c.2964C>T c.(2962-2964)atC>atT p.I988I NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 988 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCGGATTAGCGATGAAGTCAC 0.572000 33 18 0 0 0.00074312 0 0 PHGDH 26227 broad.mit.edu 37 1 120277263 120277264 + Missense_Mutation DNP GG TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:120277263_120277264GG>TT uc001ehz.3 + 5 744_745 c.517_518GG>TT c.(517-519)ggg>TTg p.G173L PHGDH_uc009whl.3_Missense_Mutation_p.G75L|PHGDH_uc009whm.3_Missense_Mutation_p.G71L|PHGDH_uc001eib.3_Missense_Mutation_p.G139L NM_006623 NP_006614 O43175 SERA_HUMAN Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA. 173 L-serine biosynthetic process|brain development NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CCAGACTATAGGGTATGACCCC 0.446000 479 13 0 0 6.4e-05 0 0 KIAA1751 85452 broad.mit.edu 37 1 1890618 1890618 + Missense_Mutation SNP A T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:1890618A>T uc001aim.1 - 15 1948 c.1792T>A c.(1792-1794)Ttt>Att p.F598I KIAA1751_uc009vkz.1_Missense_Mutation_p.F598I NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN Homo sapiens KIAA1751 (KIAA1751), mRNA. 598 breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 32 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TGAGCCAAAAATGAGATATTT 0.403000 74 17 0 0 0.000958276 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455097 84455097 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:84455097G>A uc001vlk.3 - 0 1432 c.546C>T c.(544-546)ctC>ctT p.L182L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 182 integral to membrane p.L182L(2) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CCCGGAGGTCGAGGTGGGTGA 0.527000 67 31 0 0 0.000491102 0 0 PBX2 5089 broad.mit.edu 37 6 32155893 32155893 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:32155893C>T uc003oav.1 - 3 855 c.584G>A c.(583-585)aGg>aAg p.R195K PBX2_uc003oaw.3_Missense_Mutation_p.R195K NM_002586 NP_002577 P40425 PBX2_HUMAN Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA. 195 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GCTCTGCTCCCTCAGCAGGTT 0.587000 218 42 0 0 0.000781405 0 0 C20orf197 284756 broad.mit.edu 37 20 58645066 58645066 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:58645066G>A uc002ybj.1 + 2 343 c.37G>A c.(37-39)Gca>Aca p.A13T NM_173644 NP_775915 Q8N268 CT197_HUMAN Homo sapiens chromosome 20 open reading frame 197 (C20orf197), mRNA. 13 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) TTATTGGCAGGCAGACGGCTA 0.567000 68 8 0 0 0.000274275 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661510 77661510 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:77661510G>A uc011cbx.2 + 4 3137 c.2184G>A c.(2182-2184)agG>agA p.R728R SHROOM3_uc011cbz.1_Silent_p.R552R|SHROOM3_uc003hkf.1_Silent_p.R603R|SHROOM3_uc003hkg.3_Silent_p.R506R NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 728 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CCGAGGGGAGGACCGGTGCCT 0.677000 77 15 0 0 0.000308642 0 0 FILIP1 27145 broad.mit.edu 37 6 76024012 76024012 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:76024012C>T uc010kbe.3 - 5 2075 c.1545G>A c.(1543-1545)agG>agA p.R515R FILIP1_uc003phy.1_Silent_p.R512R|FILIP1_uc003phz.3_Silent_p.R413R|FILIP1_uc003pia.3_Silent_p.R512R|FILIP1_uc003pib.1_Silent_p.R264R NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 512 p.R512R(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCATATTTTTCCTTTCATCAA 0.323000 34 8 0 0 0.000157383 0 0 RPL32P3 132241 broad.mit.edu 37 3 129115100 129115100 + RNA SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:129115100G>A uc003eme.1 - 1 c.1079C>T RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Non-coding_Transcript|RPL32P3_uc003emd.1_Intron Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA. lung(1) 1 TTGACATTGTGGACCAGGAAC 0.458000 35 5 0 0 0.000602214 0 0 SYNE1 23345 broad.mit.edu 37 6 152651175 152651175 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:152651175C>T uc021zhb.1 - 75 14868 c.14645G>A c.(14644-14646)cGa>cAa p.R4882Q SYNE1_uc003qot.4_Missense_Mutation_p.R4811Q|SYNE1_uc003qou.4_Missense_Mutation_p.R4882Q|SYNE1_uc010kiz.3_Missense_Mutation_p.R637Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 4882 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGCACCATTCGGCTCTCACA 0.532000 HNSCC(10;0.0054) 27 5 0 0 0.000602214 0 0 OR5V1 81696 broad.mit.edu 37 6 29323094 29323094 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:29323094C>T uc011dlo.2 - 0 961 c.879G>A c.(877-879)agG>agA p.R293R NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R293R(2) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGTCCTTATTCCTCAATGTGT 0.403000 26 8 0 0 0.000442599 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049157 42049157 + Missense_Mutation SNP G T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:42049157G>T uc001cgz.4 - 3 2525 c.1312C>A c.(1312-1314)Cag>Aag p.Q438K HIVEP3_uc001cha.4_Missense_Mutation_p.Q438K|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 438 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.T437P(1) NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGAGGGGCTGGGTGGAGGTG 0.607000 59 11 4.36969e-10 4.31457e-09 0.000151284 1 0 BPIFB1 92747 broad.mit.edu 37 20 31878803 31878803 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:31878803G>A uc002wyw.1 + 4 567 c.406G>A c.(406-408)Gag>Aag p.E136K BPIFB1_uc010gej.1_Missense_Mutation_p.E136K NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA. 136 extracellular space lipid binding CATGACGACTGAGGCCCAAGC 0.637000 32 6 0 0 3.59834e-05 0 0 SLAMF7 57823 broad.mit.edu 37 1 160719702 160719702 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:160719702G>A uc001fwq.3 + 2 483 c.468G>A c.(466-468)ggG>ggA p.G156G SLAMF7_uc010pjn.2_Silent_p.G49G|SLAMF7_uc001fws.3_Silent_p.G49G|SLAMF7_uc001fwr.3_Silent_p.G156G|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Silent_p.G49G|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Silent_p.G49G NM_021181 NP_067004 Q9NQ25 SLAF7_HUMAN Homo sapiens SLAM family member 7 (SLAMF7), mRNA. 156 Ig-like C2-type. cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGAACATGGGGAAGAGGATG 0.522000 64 8 0 0 0.000274275 0 0 abParts 0 broad.mit.edu 37 14 106405688 106405688 + RNA SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:106405688C>T uc021ser.1 - 3033 c.50104G>A Parts of antibodies, mostly variable regions. TTGGATGTGTCTGGGTTGATG 0.498000 82 25 0 0 0.00047179 0 0 CRYBA4 1413 broad.mit.edu 37 22 27019281 27019281 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:27019281C>T uc003acz.4 + 2 158 c.123C>T c.(121-123)ttC>ttT p.F41F NM_001886 NP_001877 P53673 CRBA4_HUMAN Homo sapiens crystallin, beta A4 (CRYBA4), mRNA. 41 Beta/gamma crystallin 'Greek key' 1. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 AGCTTGGCTTCGAGACTGTGC 0.602000 60 30 0 0 0.00058488 0 0 UNC13C 440279 broad.mit.edu 37 15 54305995 54305995 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:54305995C>T uc021smr.1 + 0 895 c.895C>T c.(895-897)Cgg>Tgg p.R299W UNC13C_uc021sms.1_Missense_Mutation_p.R299W NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 299 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.R299L(1) 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) TGTCCAGTCTCGGAGGGAAAC 0.443000 35 11 0 0 0.00010058 0 0 PKD1L1 168507 broad.mit.edu 37 7 47847972 47847972 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:47847972C>T uc003tny.2 - 51 7734 c.7700G>A c.(7699-7701)gGa>gAa p.G2567E C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2567 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GAGGCTCACTCCAACCACGGA 0.522000 53 9 0 0 0.000151284 0 0 MSH6 2956 broad.mit.edu 37 2 48030752 48030752 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:48030752G>A uc002rwd.4 + 4 3518 c.3366G>A c.(3364-3366)caG>caA p.Q1122Q MSH6_uc010fbj.3_Silent_p.Q820Q|MSH6_uc010yoj.2_Silent_p.Q820Q NM_000179 NP_000170 P52701 MSH6_HUMAN Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA. 1122 Poly-Glu. DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAGAGGAGCAGGAAAATGGCA 0.398000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 26 7 0 0 8.12818e-05 0 0 ZNF331 55422 broad.mit.edu 37 19 54080376 54080376 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:54080376G>A uc002qbx.1 + 6 1996 c.562G>A c.(562-564)Gaa>Aaa p.E188K ZNF331_uc002qby.1_Missense_Mutation_p.E188K|ZNF331_uc002qbz.1_Missense_Mutation_p.E188K|ZNF331_uc010eqr.1_Missense_Mutation_p.E188K|ZNF331_uc002qca.1_Missense_Mutation_p.E188K|ZNF331_uc021uzg.1_Missense_Mutation_p.E188K|ZNF331_uc021uzh.1_Missense_Mutation_p.E188K|ZNF331_uc002qcb.1_Missense_Mutation_p.E188K|ZNF331_uc002qcc.1_Missense_Mutation_p.E188K|ZNF331_uc002qcd.1_Missense_Mutation_p.E188K NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA. 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GAAGCCCTACGAATGTAAAGA 0.423000 T ? follicular thyroid adenoma 81 12 0 0 0.00010058 0 0 PNMA3 29944 broad.mit.edu 37 X 152226196 152226196 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:152226196G>A uc022cho.1 + 0 784 c.784G>A c.(784-786)Gag>Aag p.E262K PNMA3_uc004fhc.2_Missense_Mutation_p.E262K|PNMA3_uc004fhd.3_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA. 262 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) ggaggcaggagagaaagtatc 0.493000 93 32 0 0 0.000339439 0 0 OSBPL7 114881 broad.mit.edu 37 17 45892594 45892594 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:45892594G>A uc002ilx.1 - 12 1447 c.1244C>T c.(1243-1245)tCt>tTt p.S415F OSBPL7_uc002ilw.1_5'UTR NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA. 415 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 ATTCTCAGAAGAGCTGGCGGA 0.602000 31 4 0 0 0.000602214 0 0 SLITRK5 26050 broad.mit.edu 37 13 88327745 88327745 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:88327745C>T uc001vln.3 + 1 321 c.102C>T c.(100-102)gtC>gtT p.V34V SLITRK5_uc010tic.1_Intron|SLITRK5_uc021rlc.1_Silent_p.V34V NM_015567 NP_056382 O94991 SLIK5_HUMAN Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA. 34 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CATCTCTCGTCCTTTCGTGTG 0.463000 109 27 0 0 0.000586117 0 0 MUC16 94025 broad.mit.edu 37 19 9060133 9060133 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:9060133C>T uc002mkp.3 - 2 27517 c.27313G>A c.(27313-27315)Ggg>Agg p.G9105R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9107 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGTGGGTCCCTGACATAAAA 0.478000 21 15 0 0 0.000308642 0 0 WDR5B 54554 broad.mit.edu 37 3 122133664 122133664 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:122133664C>T uc003efa.1 - 0 1219 c.712G>A c.(712-714)Gat>Aat p.D238N NM_019069 NP_061942 Q86VZ2 WDR5B_HUMAN Homo sapiens WD repeat domain 5B (WDR5B), mRNA. 238 kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.0704) CTGCTATAATCCCATAGTTTA 0.378000 91 19 0 0 0.000295444 0 0 ITSN1 6453 broad.mit.edu 37 21 35247714 35247714 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:35247714G>A uc002yta.1 + 33 4498 c.4230G>A c.(4228-4230)ctG>ctA p.L1410L DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.L1405L|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Non-coding_Transcript|ITSN1_uc002ytk.1_Non-coding_Transcript NM_003024 NP_003015 Q15811 ITSN1_HUMAN Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA. 1410 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AGCACGCCCTGGAGAAGGCGG 0.557000 69 10 0 0 0.00010058 0 0 FGA 2243 broad.mit.edu 37 4 155507125 155507125 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:155507125C>T uc003iod.1 - 4 1514 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K FGA_uc003ioe.1_Missense_Mutation_p.E486K|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 486 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.E486K(2) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GAACCATCTTCGGAGGTCACC 0.493000 26 6 0 0 3.59834e-05 0 0 TMEM19 55266 broad.mit.edu 37 12 72091168 72091168 + Missense_Mutation SNP C T T rs139343453 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:72091168C>T uc001sws.3 + 3 1074 c.491C>T c.(490-492)tCc>tTc p.S164F TMEM19_uc001swr.1_Missense_Mutation_p.S150F NM_018279 NP_060749 Q96HH6 TMM19_HUMAN Homo sapiens transmembrane protein 19 (TMEM19), mRNA. 164 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) GTCGATTTTTCCAAGCAGTAC 0.522000 52 22 0 0 0.000295444 0 0 DSCAML1 57453 broad.mit.edu 37 11 117391953 117391953 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:117391953C>T uc001prh.1 - 5 1287 c.1285G>A c.(1285-1287)Gag>Aag p.E429K DSCAML1_uc001pri.1_Missense_Mutation_p.E233K NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 369 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.E429*(2) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGCAGCGTCTCGTTGCTGAGC 0.642000 68 42 0 0 0.000781405 0 0 PLA2G16 11145 broad.mit.edu 37 11 63365622 63365622 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:63365622G>A uc001nxh.2 - 1 452 c.29C>T c.(28-30)cCt>cTt p.P10L PLA2G16_uc001nxi.2_Intron|PLA2G16_uc009you.1_Missense_Mutation_p.P10L NM_007069 NP_009000 P53816 PAG16_HUMAN Homo sapiens phospholipase A2, group XVI (PLA2G16), transcript variant 1, mRNA. 10 lipid catabolic process integral to membrane|perinuclear region of cytoplasm hydrolase activity|protein binding kidney(2)|lung(1)|ovary(1)|skin(1) 5 CAGGTCTCCAGGCTTAGGCTC 0.522000 12 12 0 0 0.00010058 0 0 TTN 7273 broad.mit.edu 37 2 179665300 179665300 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:179665300C>T uc021vsy.1 - 3 630 c.405G>A c.(403-405)gtG>gtA p.V135V TTN_uc021vsz.1_Silent_p.V135V|TTN_uc021vta.1_Silent_p.V135V|TTN_uc021vtb.1_Silent_p.V135V|TTN_uc002unb.2_Silent_p.V135V|TTN_uc002und.3_Silent_p.V135V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 135 Ig-like 2. 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) GGTAGAACTTCACCACAGGTG 0.507000 64 6 0 0 3.59834e-05 0 0 NLRP8 126205 broad.mit.edu 37 19 56459545 56459545 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:56459545C>T uc002qmh.3 + 0 348 c.277C>T c.(277-279)Cct>Tct p.P93S NLRP8_uc010etg.3_Missense_Mutation_p.P93S NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 93 DAPIN. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGAGCGTTTCCCTGGACGACG 0.507000 29 6 0 0 3.59834e-05 0 0 NUDT10 170685 broad.mit.edu 37 X 51076066 51076066 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:51076066C>T uc004dph.3 + 1 469 c.249C>T c.(247-249)ttC>ttT p.F83F NUDT10_uc004dpi.4_Silent_p.F83F NM_153183 NP_694853 Q8NFP7 NUD10_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA. 83 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGGGCGTCTTCGAACAGAACC 0.617000 25 10 0 0 0.000673444 0 0 C14orf182 283551 broad.mit.edu 37 14 50472359 50472359 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:50472359G>A uc001wxi.1 - 0 1880 c.159C>T c.(157-159)ttC>ttT p.F53F NM_001012706 NP_001012724 A1A4T8 CN182_HUMAN Homo sapiens chromosome 14 open reading frame 182 (C14orf182), mRNA. 53 large_intestine(2)|urinary_tract(1) 3 GCAAGAAGACGAAATGTCTGT 0.532000 146 19 0 0 0.000958276 0 0 GRM3 2913 broad.mit.edu 37 7 86479836 86479836 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:86479836G>A uc003uid.3 + 4 3641 c.2542G>A c.(2542-2544)Gga>Aga p.G848R GRM3_uc010lef.3_Nonsense_Mutation_p.W490*|GRM3_uc010leg.3_Missense_Mutation_p.G720R|GRM3_uc010leh.3_Missense_Mutation_p.G440R NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 848 synaptic transmission integral to plasma membrane p.G848E(2) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CAGTGTCAGTGGAACTGGGAC 0.478000 19 8 0 0 0.000442599 0 0 PXDN 7837 broad.mit.edu 37 2 1652770 1652770 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:1652770C>T uc002qxa.3 - 16 2846 c.2782G>A c.(2782-2784)Gac>Aac p.D928N NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 928 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CTGGCCAGGTCGCGGATGCTG 0.692000 20 8 0 0 0.000978159 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19414219 19414219 + RNA SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:19414219C>T uc010tcj.1 - 0 c.31891G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GTTTCTCTTTCCTTTCTAATT 0.308000 27 5 0 0 0.000602214 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678243 25678243 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:25678243G>A uc003grr.3 + 12 2026 c.1945G>A c.(1945-1947)Gag>Aag p.E649K SLC34A2_uc003grs.3_Missense_Mutation_p.E648K|SLC34A2_uc010iev.3_Missense_Mutation_p.E648K NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 649 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) cGAGGACTTGGAGGAGGCGCA 0.627000 T ROS1 NSCLC 39 10 0 0 0.000673444 0 0 PACS2 23241 broad.mit.edu 37 14 105814892 105814892 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:105814892C>T uc001yqu.3 + 1 686 c.182C>T c.(181-183)tCc>tTc p.S61F PACS2_uc001yqs.2_5'UTR|PACS2_uc001yqt.3_Missense_Mutation_p.S61F|PACS2_uc001yqv.3_Missense_Mutation_p.S61F NM_001100913 NP_001094383 Q86VP3 PACS2_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA. 61 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GAGCTGATCTCCGTGGTGATC 0.617000 97 11 0 0 0.000978159 0 0 USH2A 7399 broad.mit.edu 37 1 215956161 215956161 + Missense_Mutation SNP C G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:215956161C>G uc001hku.1 - 52 10891 c.10504G>C c.(10504-10506)Gtg>Ctg p.V3502L NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3502 Fibronectin type-III 20. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGGGGACTCACTCCTTGAGGC 0.418000 HNSCC(13;0.011) 19 3 0 0 6.4e-05 0 0 PRR5L 79899 broad.mit.edu 37 11 36424900 36424900 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:36424900G>A uc001mwo.4 + 2 606 c.217G>A c.(217-219)Gag>Aag p.E73K PRR5L_uc001mwp.3_Missense_Mutation_p.E73K|PRR5L_uc009ykk.3_Intron|PRR5L_uc010rfc.2_Missense_Mutation_p.E73K NM_001160167 NP_079117 Q6MZQ0 PRR5L_HUMAN Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA. 73 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 GCAAAGCAACGAGCTCTATGC 0.507000 34 16 0 0 0.00074312 0 0 CNIH3 149111 broad.mit.edu 37 1 224868708 224868708 + Nonsense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:224868708C>T uc001hos.1 + 1 828 c.130C>T c.(130-132)Cag>Tag p.Q44* NM_152495 NP_689708 Q8TBE1 CNIH3_HUMAN Homo sapiens cornichon homolog 3 (Drosophila) (CNIH3), mRNA. 44 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane large_intestine(5)|lung(4) 9 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) CCCCATAGACCAGTGCAATCC 0.498000 111 21 0 0 0.000279167 0 0 DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:31237922G>C uc001rjt.1 + 4 751 c.500G>C c.(499-501)aGa>aCa p.R167T DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA. 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding p.R167T(18) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612000 Multiple Myeloma(12;0.14) 11 3 0 0 6.4e-05 0 0 SLC1A2 6506 broad.mit.edu 37 11 35287299 35287299 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:35287299C>T uc001mwd.3 - 9 2020 c.1428G>A c.(1426-1428)agG>agA p.R476R SLC1A2_uc021qfx.1_Silent_p.R467R|SLC1A2_uc001mwe.3_Silent_p.R467R|SLC1A2_uc010rev.1_Silent_p.R476R NM_004171 NP_001239581 P43004 EAA2_HUMAN Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA. 476 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) AAGTTCTCATCCTGTCCCTGG 0.488000 23 16 0 0 0.000422831 0 0 XIST 7503 broad.mit.edu 37 X 73065144 73065144 + RNA SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:73065144G>A uc004ebm.1 - 0 c.7445C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. CCAGGAAAAGGGGCCTTGGTG 0.493000 32 16 0 0 0.000566183 0 0 ZNF341 84905 broad.mit.edu 37 20 32379277 32379277 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:32379277C>T uc002wzy.3 + 14 2539 c.2519C>T c.(2518-2520)cCa>cTa p.P840L ZNF341_uc002wzx.3_Missense_Mutation_p.P833L|ZNF341_uc010geq.3_Missense_Mutation_p.P750L|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Missense_Mutation_p.P267L NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 840 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 GCCGAGGGCCCATGTGCCATG 0.667000 21 15 0 0 0.00074312 0 0 SLC26A9 115019 broad.mit.edu 37 1 205884064 205884064 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:205884064G>A uc001hdp.3 - 21 2734 c.2620C>T c.(2620-2622)Cca>Tca p.P874S SLC26A9_uc001hdm.3_Missense_Mutation_p.P121S|SLC26A9_uc001hdn.3_Missense_Mutation_p.P121S|SLC26A9_uc001hdo.3_3'UTR|SLC26A9_uc001hdq.3_3'UTR NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 0 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GAGCCGTGTGGGCTCTGGGAC 0.522000 136 17 0 0 0.000132079 0 0 POU6F1 5463 broad.mit.edu 37 12 51586221 51586222 + Nonsense_Mutation DNP GG AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:51586221_51586222GG>AA uc001rxy.3 - 2 474_475 c.282_283CC>TT c.(280-285)ccccag>ccTTag p.Q95* POU6F1_uc001rxz.3_Nonsense_Mutation_p.Q95*|POU6F1_uc001rya.3_Nonsense_Mutation_p.Q95* NM_002702 NP_002693 Q14863 PO6F1_HUMAN Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA. 95 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 ACAGCAGGCTGGGGCACGGTTG 0.604000 108 15 0 0 6.4e-05 0 0 KCNQ2 3785 broad.mit.edu 37 20 62065217 62065217 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:62065217C>T uc002yey.1 - 7 1240 c.1063G>A c.(1063-1065)Gac>Aac p.D355N KCNQ2_uc002yez.1_Missense_Mutation_p.D355N|KCNQ2_uc002yfa.1_Missense_Mutation_p.D355N|KCNQ2_uc002yfb.1_Missense_Mutation_p.D355N|KCNQ2_uc011aax.1_Missense_Mutation_p.D355N|KCNQ2_uc002yfc.1_Missense_Mutation_p.D355N NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 355 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GAGTGCAGGTCTGTGCGCGAG 0.637000 107 14 0 0 0.000219431 0 0 ENPP4 22875 broad.mit.edu 37 6 46111310 46111310 + Missense_Mutation SNP T A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:46111310T>A uc003oxy.3 + 3 1554 c.1295T>A c.(1294-1296)cTt>cAt p.L432H NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA. 432 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CAGAATAGACTTTCTGTACCT 0.413000 28 5 0 0 0.000602214 0 0 PCLO 27445 broad.mit.edu 37 7 82581597 82581597 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:82581597C>T uc003uhx.2 - 4 8961 c.8672G>A c.(8671-8673)gGa>gAa p.G2891E PCLO_uc003uhv.2_Missense_Mutation_p.G2891E|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2822 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.Q2890H(1) 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 ATCAGTGATTCCCTGGGATAC 0.453000 62 11 0 0 0.000673444 0 0 TRAF3 7187 broad.mit.edu 37 14 103369643 103369643 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:103369643C>T uc001ymc.2 + 10 1365 c.1012C>T c.(1012-1014)Cgg>Tgg p.R338W TRAF3_uc001ymd.2_Missense_Mutation_p.R338W|TRAF3_uc001yme.2_Missense_Mutation_p.R313W|TRAF3_uc010txy.2_Missense_Mutation_p.R255W|TRAF3_uc001ymf.1_Missense_Mutation_p.R71W NM_145725 NP_663777 Q13114 TRAF3_HUMAN Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA. 338 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) CAAGGAGATCCGGCCCTTCCG 0.542000 56 14 0 0 0.000422831 0 0 FAM83B 222584 broad.mit.edu 37 6 54805985 54805985 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:54805985C>T uc003pck.3 + 4 2332 c.2216C>T c.(2215-2217)tCc>tTc p.S739F NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 739 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAATCAGTTTCCATTGCTGCT 0.398000 7 5 0 0 3.59834e-05 0 0 KIF4B 285643 broad.mit.edu 37 5 154394116 154394116 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:154394116C>T uc010jih.1 + 0 857 c.697C>T c.(697-699)Cgc>Tgc p.R233C NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 233 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.R233H(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTGCAGCTTTCGCTCCAAGCT 0.453000 67 14 0 0 0.000308642 0 0 COL3A1 1281 broad.mit.edu 37 2 189875617 189875617 + Splice_Site SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:189875617G>A uc002uqj.1 + 50 4371 c.4254_splice c.e50+1 p.T1418_splice NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 1418 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGTTGCACGGTAGGAAACAT 0.348000 41 9 0 0 0.000978159 0 0 APOB 338 broad.mit.edu 37 2 21247901 21247901 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:21247901C>T uc002red.3 - 15 2468 c.2340G>A c.(2338-2340)ttG>ttA p.L780L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 780 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCTCCTCTCCCAAGATGCGGA 0.512000 173 32 0 0 0.000491102 0 0 DNMBP 23268 broad.mit.edu 37 10 101646230 101646231 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:101646230_101646231CC>TT uc001kqj.2 - 12 3536_3537 c.3444_3445GG>AA c.(3442-3447)gaggag>gaAAag p.E1149K DNMBP_uc010qpl.1_Missense_Mutation_p.E85K|DNMBP_uc001kqg.2_Missense_Mutation_p.E437K|DNMBP_uc001kqh.2_Missense_Mutation_p.E781K NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN Homo sapiens dynamin binding protein (DNMBP), mRNA. 1149 BAR. intracellular signal transduction|regulation of Rho protein signal transduction Golgi stack|cell junction|cytoskeleton|synapse Rho guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GACTGCAGCTCCTCCAGGGTCT 0.550000 76 11 0 0 6.4e-05 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998840 72998840 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:72998840C>T uc002lly.3 + 1 1906 c.1343C>T c.(1342-1344)tCc>tTc p.S448F TSHZ1_uc021uln.1_Missense_Mutation_p.S448F NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 493 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G447V(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CCCGCGGGGTCCACGACTTCT 0.597000 58 20 0 0 0.000175454 0 0 CCPG1 9236 broad.mit.edu 37 15 55657426 55657426 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:55657426G>A uc010bfk.2 - 6 1087 c.788C>T c.(787-789)tCc>tTc p.S263F CCPG1_uc002acy.3_Missense_Mutation_p.S263F|CCPG1_uc002acu.2_Missense_Mutation_p.S119F|CCPG1_uc002acz.2_Missense_Mutation_p.S263F|CCPG1_uc002acw.2_Intron|CCPG1_uc002acx.3_Missense_Mutation_p.S263F|CCPG1_uc002acv.2_Missense_Mutation_p.S263F NM_001204450 NP_001191379 Q9ULG6 CCPG1_HUMAN Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA. 263 Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) TTGACACTGGGAAAGATAATC 0.274000 151 17 0 0 0.000132079 0 0 SLAMF8 56833 broad.mit.edu 37 1 159802889 159802889 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:159802889G>A uc001fue.4 + 2 801 c.591G>A c.(589-591)gtG>gtA p.V197V NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN Homo sapiens SLAM family member 8 (SLAMF8), mRNA. 197 Ig-like C2-type. integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) ACAGAGATGTGGCCTATTCCT 0.567000 66 7 0 0 0.000157383 0 0 SEMA3E 9723 broad.mit.edu 37 7 83029395 83029395 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:83029395C>T uc003uhy.2 - 10 1936 c.1315G>A c.(1315-1317)Gat>Aat p.D439N SEMA3E_uc022agy.1_Missense_Mutation_p.D379N NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 439 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TCCACTCGATCTACTGCTATT 0.368000 38 5 0 0 0.000602214 0 0 IFNAR2 3455 broad.mit.edu 37 21 34617307 34617308 + Missense_Mutation DNP CC TA TA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:34617307_34617308CC>TA uc002yrd.3 + 3 477_478 c.149_150CC>TA c.(148-150)tcc>tTA p.S50L IFNAR2_uc002yrb.3_Missense_Mutation_p.S50L|IFNAR2_uc002yrc.3_Missense_Mutation_p.S50L|IFNAR2_uc002yre.3_Missense_Mutation_p.S50L|IFNAR2_uc002yrf.3_Missense_Mutation_p.S50L NM_207585 NP_997468 P48551 INAR2_HUMAN Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA. 50 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) AATTTCCGGTCCATCTTATCAT 0.351000 91 13 0 0 6.4e-05 0 0 MUC4 4585 broad.mit.edu 37 3 195501092 195501092 + Missense_Mutation SNP T C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:195501092T>C uc021xjp.1 - 3 13184 c.13028A>G c.(13027-13029)aAg>aGg p.K4343R MUC4_uc003fuz.3_Missense_Mutation_p.S23G|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.K84R|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.K84R|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.K107R|MUC4_uc003fvp.3_Missense_Mutation_p.K56R NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 1100 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGTCGCCGGCTTGAAGAGTGG 0.662000 31 10 0 0 0.000673444 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100004335 100004335 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:100004335G>A uc003uut.3 - 11 1400 c.1152C>T c.(1150-1152)tcC>tcT p.S384S ZCWPW1_uc011kjq.2_Silent_p.S264S|ZCWPW1_uc003uur.3_Silent_p.S264S|ZCWPW1_uc003uus.3_Silent_p.S264S|ZCWPW1_uc011kjr.2_Silent_p.S384S|ZCWPW1_uc003uuu.1_Silent_p.S385S|ZCWPW1_uc011kjp.2_Non-coding_Transcript NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA. 384 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATAGCTCCAGGGACAGCTCCT 0.418000 74 9 0 0 0.000978159 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281609 71281609 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:71281609G>A uc002jjn.3 - 1 1178 c.1031C>T c.(1030-1032)tCc>tTc p.S344F CDC42EP4_uc002jjo.3_Missense_Mutation_p.S344F|CDC42EP4_uc002jjp.1_Missense_Mutation_p.S274F|CDC42EP4_uc021ucn.1_Missense_Mutation_p.S344F NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA. 344 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ATCCATGAAGGAGAACTCCTT 0.647000 120 15 0 0 0.000566183 0 0 DUOX2 50506 broad.mit.edu 37 15 45387154 45387154 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:45387154C>T uc001zun.3 - 31 4578 c.4375G>A c.(4375-4377)Gac>Aac p.D1459N DUOX2_uc010bea.3_Missense_Mutation_p.D1459N NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1459 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 NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|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) GTCCTGAGGTCGAACTTCTCA 0.592000 70 8 0 0 0.000274275 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993513 140993513 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:140993513C>T uc004fbt.3 + 3 647 c.323C>T c.(322-324)tCc>tTc p.S108F MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 108 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGGAAGGACTCCCTGTCTCCT 0.547000 HNSCC(15;0.026) 24 26 0 0 0.000720815 0 0 TRPV5 56302 broad.mit.edu 37 7 142612196 142612196 + Missense_Mutation SNP A C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:142612196A>C uc003wby.1 - 10 1571 c.1307T>G c.(1306-1308)gTg>gGg p.V436G NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 436 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GGTCACCAGCACCAGGGAGGC 0.557000 9 8 0 0 0.000157383 0 0 CFHR5 81494 broad.mit.edu 37 1 196953100 196953100 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:196953100C>T uc001gts.4 + 2 391 c.263C>T c.(262-264)tCc>tTc p.S88F NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 88 Sushi 2. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GGAATGTGTTCCTTTCCTTTT 0.308000 9 4 0 0 0.00024832 0 0 ANLN 54443 broad.mit.edu 37 7 36447420 36447420 + Silent SNP T C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:36447420T>C uc003tff.3 + 4 1155 c.951T>C c.(949-951)ctT>ctC p.L317L ANLN_uc011kaz.2_Silent_p.L229L|ANLN_uc003tfg.3_Silent_p.L317L|ANLN_uc010kxe.3_Silent_p.L317L NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN Homo sapiens anillin, actin binding protein (ANLN), mRNA. 317 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CTGAGCTACTTCCAAAAACTC 0.403000 33 7 0 0 8.12818e-05 0 0 GFRA3 2676 broad.mit.edu 37 5 137600194 137600194 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:137600194G>A uc003lcn.3 - 1 275 c.135C>T c.(133-135)ctC>ctT p.L45L GFRA3_uc003lco.3_Silent_p.L45L NM_001496 NP_001487 O60609 GFRA3_HUMAN Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA. 45 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCCTGGCCTGGAGACAGCTGT 0.557000 26 20 0 0 0.00047179 0 0 MC5R 4161 broad.mit.edu 37 18 13826735 13826736 + Missense_Mutation DNP GG AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:13826735_13826736GG>AA uc010xaf.2 + 0 1193_1194 c.971_972GG>AA c.(970-972)agg>aAA p.R324K NM_005913 NP_005904 P33032 MC5R_HUMAN Homo sapiens melanocortin 5 receptor (MC5R), mRNA. 324 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TTTCCCAGAAGGGATTAAGCAC 0.525000 95 15 0 0 6.4e-05 0 0 EPHA3 2042 broad.mit.edu 37 3 89448538 89448538 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:89448538C>T uc003dqy.3 + 6 1727 c.1502C>T c.(1501-1503)cCt>cTt p.P501L EPHA3_uc003dqx.1_Missense_Mutation_p.P501L|EPHA3_uc021xbf.1_Missense_Mutation_p.P501L NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 501 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AGCCTCAAGCCTGACACTATA 0.428000 TSP Lung(6;0.00050) 29 14 0 0 0.000308642 0 0 LONRF2 164832 broad.mit.edu 37 2 100903504 100903504 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:100903504C>T uc002tal.4 - 10 2582 c.1942G>A c.(1942-1944)Gaa>Aaa p.E648K LONRF2_uc010yvs.2_Non-coding_Transcript NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA. 648 Lon. E -> Q (in Ref. 1; AAY84832). proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GCGGCAAGTTCTTCATACTCT 0.493000 24 5 0 0 3.59834e-05 0 0 IRX5 10265 broad.mit.edu 37 16 54967726 54967726 + Nonsense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:54967726C>T uc002ehv.3 + 2 1393 c.1393C>T c.(1393-1395)Cag>Tag p.Q465* IRX5_uc021tin.1_Nonsense_Mutation_p.Q464*|IRX5_uc002ehw.3_Nonsense_Mutation_p.Q399* NM_005853 NP_005844 P78411 IRX5_HUMAN Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA. 465 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GAGCCAGTCTCAGCTAGACCT 0.488000 82 35 0 0 0.000374591 0 0 RELN 5649 broad.mit.edu 37 7 103206798 103206798 + Silent SNP T C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:103206798T>C uc022ajr.1 - 32 4969 c.4809A>G c.(4807-4809)caA>caG p.Q1603Q RELN_uc022ajq.1_Silent_p.Q1603Q|RELN_uc010liz.3_Silent_p.Q1603Q NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1603 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.Q1603E(1)|p.Q1603K(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAAATCCAGTTTGAGAGCTGT 0.403000 14 8 0 0 0.000157383 0 0 SPATA8 145946 broad.mit.edu 37 15 97326937 97326937 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:97326937G>A uc002bue.3 + 0 259 c.52G>A c.(52-54)Gaa>Aaa p.E18K DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA. 18 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TCTCTACCAGGAAATTGCCCC 0.552000 63 11 0 0 0.000673444 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47123702 47123702 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:47123702C>T uc002iom.3 + 13 1942 c.1608C>T c.(1606-1608)atC>atT p.I536I IGF2BP1_uc010dbj.3_Silent_p.I397I NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA. 536 KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ACCAGGTCATCGTGAAAATCA 0.552000 46 6 0 0 8.12818e-05 0 0 NUBP2 10101 broad.mit.edu 37 16 1836596 1836596 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:1836596C>T uc002cmw.4 + 1 164 c.75C>T c.(73-75)ggC>ggT p.G25G NUBP2_uc002cmx.4_5'UTR NM_012225 NP_036357 Q9Y5Y2 NUBP2_HUMAN Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA. 25 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 GAAAGGGGGGCGTTGGGAAAA 0.662000 64 10 0 0 0.000978159 0 0 ACACB 32 broad.mit.edu 37 12 109629448 109629448 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:109629448C>T uc001tob.3 + 13 2294 c.2175C>T c.(2173-2175)tcC>tcT p.S725S ACACB_uc001toc.3_Silent_p.S725S NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 725 Biotin carboxylation. 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 Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|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) AGGAACTGTCCATCCGAGGCG 0.488000 118 24 0 0 0.000339439 0 0 TMC7 79905 broad.mit.edu 37 16 19051753 19051753 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:19051753G>A uc002dfp.2 + 8 1452 c.1322G>A c.(1321-1323)cGt>cAt p.R441H TMC7_uc010vao.1_3'UTR|TMC7_uc002dfq.3_Missense_Mutation_p.R441H|TMC7_uc010vap.2_Missense_Mutation_p.R331H NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 441 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TTTGAGATCCGTCTGACAATC 0.468000 76 29 0 0 0.000184323 0 0 ELF5 2001 broad.mit.edu 37 11 34502425 34502425 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:34502425C>T uc001mvo.1 - 5 825 c.595G>A c.(595-597)Gaa>Aaa p.E199K ELF5_uc021qft.1_Missense_Mutation_p.E121K|ELF5_uc001mvp.2_Missense_Mutation_p.E189K|ELF5_uc009ykd.2_Missense_Mutation_p.E94K NM_198381 NP_001413 Q9UKW6 ELF5_HUMAN Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA. 199 cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) ATTCCTTGTTCCCTATCTTCC 0.428000 25 7 0 0 0.000157383 0 0 DRP2 1821 broad.mit.edu 37 X 100505941 100505941 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:100505941C>T uc004egz.2 + 15 2103 c.1734C>T c.(1732-1734)ttC>ttT p.F578F DRP2_uc011mrh.1_Silent_p.F500F NM_001939 NP_001164655 Q13474 DRP2_HUMAN Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA. 578 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CATCCCAGTTCCTGGAGTGGG 0.537000 41 20 0 0 0.000175454 0 0 EOMES 8320 broad.mit.edu 37 3 27760228 27760228 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:27760228C>T uc003cdy.3 - 3 1315 c.1315G>A c.(1315-1317)Gat>Aat p.D439N EOMES_uc003cdx.3_Missense_Mutation_p.D439N|EOMES_uc010hfn.2_Missense_Mutation_p.D439N|EOMES_uc011axc.1_Missense_Mutation_p.D144N NM_005442 NP_005433 O95936 EOMES_HUMAN Homo sapiens eomesodermin (EOMES), mRNA. 439 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 ACACTCACATCGGTGTTTTGG 0.438000 149 22 0 0 0.000586117 0 0 ZNF132 7691 broad.mit.edu 37 19 58946494 58946494 + Missense_Mutation SNP G T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:58946494G>T uc002qst.4 - 2 718 c.317C>A c.(316-318)gCa>gAa p.A106E NM_003433 NP_003424 P52740 ZN132_HUMAN Homo sapiens zinc finger protein 132 (ZNF132), mRNA. 106 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GGAAGGATCTGCATTAGGGAT 0.488000 142 22 2.48779e-11 2.46543e-10 0.000878237 1 0 XIRP2 129446 broad.mit.edu 37 2 168104833 168104833 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:168104833C>T uc002udx.3 + 8 7020 c.6931C>T c.(6931-6933)Cct>Tct p.P2311S XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2136S|XIRP2_uc010fpq.3_Missense_Mutation_p.P2089S|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2136 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 ATTTCCTCTTCCTCCTCCACC 0.443000 17 6 0 0 8.12818e-05 0 0 CACNA1E 777 broad.mit.edu 37 1 181765861 181765861 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:181765861G>A uc009wxt.3 + 46 6461 c.6266G>A c.(6265-6267)cGa>cAa p.R2089Q CACNA1E_uc001gow.3_Missense_Mutation_p.R2046Q|CACNA1E_uc009wxs.3_Missense_Mutation_p.R2027Q NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2089 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.R2089Q(1)|p.R2046Q(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCAAAAGAGCGAAAGCATCTT 0.572000 33 19 0 0 0.000229342 0 0 NFKBIE 4794 broad.mit.edu 37 6 44227798 44227798 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:44227798G>A uc003oxe.1 - 4 1444 c.1419C>T c.(1417-1419)ccC>ccT p.P473P SLC35B2_uc003oxd.3_5'Flank|SLC35B2_uc011dvt.2_5'Flank|SLC35B2_uc011dvu.2_5'Flank NM_004556 NP_004547 O00221 IKBE_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA. 473 cytoplasmic sequestering of transcription factor protein binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCAGGTCCTGGGGCGTCTCAT 0.597000 37 11 0 0 0.00010058 0 0 FBN3 84467 broad.mit.edu 37 19 8153023 8153023 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:8153023C>T uc002mjf.3 - 50 6434 c.6417G>A c.(6415-6417)ggG>ggA p.G2139G FBN3_uc002mje.3_5'UTR NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 2139 EGF-like 34; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGGTGCATGTCCCTTGCCCAC 0.607000 66 13 0 0 0.000958276 0 0 FCRL6 343413 broad.mit.edu 37 1 159778212 159778212 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:159778212G>A uc001fud.4 + 2 339 c.297G>A c.(295-297)gaG>gaA p.E99E FCRL6_uc010pix.1_Silent_p.E94E|FCRL6_uc001fuc.2_Silent_p.E106E|FCRL6_uc009wsz.1_Silent_p.E99E|FCRL6_uc009wta.3_Silent_p.E99E NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 99 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) AAACTTCAGAGACTGCCATGG 0.542000 59 12 0 0 0.00010058 0 0 MUC16 94025 broad.mit.edu 37 19 9062451 9062451 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:9062451C>T uc002mkp.3 - 2 25199 c.24995G>A c.(24994-24996)aGa>aAa p.R8332K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8334 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTGGTCAGTCTCTCATGGGA 0.498000 49 14 0 0 0.000958276 0 0 SPI1 6688 broad.mit.edu 37 11 47399874 47399874 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:47399874G>A uc001nfb.1 - 0 254 c.31C>T c.(31-33)Ccc>Tcc p.P11S SPI1_uc001nfc.1_Missense_Mutation_p.P11S|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.P5S NM_001080547 NP_001074016 P17947 SPI1_HUMAN Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA. 11 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) GGGACGAGGGGAAACCCTTCC 0.682000 13 8 0 0 0.000274275 0 0 WBP2NL 164684 broad.mit.edu 37 22 42422922 42422922 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:42422922G>A uc003bbt.3 + 5 761 c.667G>A c.(667-669)Gga>Aga p.G223R WBP2NL_uc011apk.2_Missense_Mutation_p.G95R|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA. 223 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 CCCACCTCTTGGATACGGAGC 0.607000 102 66 0 0 0.000781405 0 0 CD1E 913 broad.mit.edu 37 1 158325810 158325810 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:158325810G>A uc001fse.3 + 3 1112 c.819G>A c.(817-819)ctG>ctA p.L273L CD1E_uc010pid.2_Silent_p.L271L|CD1E_uc010pie.2_Silent_p.L174L|CD1E_uc001fsh.3_Silent_p.L84L|CD1E_uc001fry.3_Intron|CD1E_uc001fsf.3_Silent_p.L273L|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Silent_p.L174L|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Silent_p.L183L|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Intron|CD1E_uc001frz.3_Silent_p.L183L|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Silent_p.L84L|CD1E_uc021pbm.1_Intron|CD1E_uc009wsw.3_Silent_p.L31L NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 273 Ig-like. antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GAGCAACCCTGGATGTGGCGG 0.602000 129 7 0 0 0.000274275 0 0 CACNA1E 777 broad.mit.edu 37 1 181741255 181741255 + Missense_Mutation SNP A C C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:181741255A>C uc009wxt.3 + 36 5222 c.5027A>C c.(5026-5028)aAg>aCg p.K1676T CACNA1E_uc001gow.3_Missense_Mutation_p.K1676T|CACNA1E_uc009wxs.3_Missense_Mutation_p.K1657T|CACNA1E_uc001gox.1_Missense_Mutation_p.K902T NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1676 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTTGGGGAGAAGGGCTGTGAG 0.567000 80 12 0 0 0.000151284 0 0 TTN 7273 broad.mit.edu 37 2 179472560 179472560 + Nonsense_Mutation SNP C A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:179472560C>A uc021vsy.1 - 224 45475 c.45250G>T c.(45250-45252)Gaa>Taa p.E15084* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.E8779*|TTN_uc021vta.1_Nonsense_Mutation_p.E8712*|TTN_uc021vtb.1_Nonsense_Mutation_p.E8587* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16011 Fibronectin type-III 9. 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) GGCGGTCCTTCCCCTGCGGCA 0.458000 25 21 1.17739e-12 1.17327e-11 0.000878237 1 0 F5 2153 broad.mit.edu 37 1 169505778 169505778 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:169505778G>A uc001ggg.1 - 13 5082 c.4937C>T c.(4936-4938)cCt>cTt p.P1646L NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 1646 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGATAATAGGACCAAGAAT 0.428000 23 4 0 0 0.000602214 0 0 PTCH2 8643 broad.mit.edu 37 1 45295698 45295698 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:45295698G>A uc010olf.2 - 6 830 c.818C>T c.(817-819)cCc>cTc p.P273L PTCH2_uc021omv.1_Missense_Mutation_p.P273L|PTCH2_uc010olg.2_5'UTR NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 273 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AGCCACATTGGGAGCCTGGAG 0.607000 Basal Cell Nevus syndrome 46 42 0 0 0.000781405 0 0 PDIA4 9601 broad.mit.edu 37 7 148701009 148701009 + Silent SNP G A A rs142824594 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:148701009G>A uc003wff.2 - 9 2097 c.1815C>T c.(1813-1815)ttC>ttT p.F605F NM_004911 NP_004902 P13667 PDIA4_HUMAN Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA. 605 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CACTGGGGGCGAAGTAGATGG 0.527000 68 12 0 0 0.000151284 0 0 NEBL 10529 broad.mit.edu 37 10 21074740 21074740 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:21074740C>T uc001iqi.3 - 27 3378 c.2981G>A c.(2980-2982)gGc>gAc p.G994D NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.G250D|NEBL_uc021pnu.1_3'UTR NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 994 SH3. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTGCACTGTGCCGTACATCCA 0.468000 13 4 0 0 0.00024832 0 0 ZNF236 7776 broad.mit.edu 37 18 74667977 74667977 + Missense_Mutation SNP C A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:74667977C>A uc002lmi.3 + 27 5143 c.4945C>A c.(4945-4947)Cag>Aag p.Q1649K ZNF236_uc002lmj.3_Non-coding_Transcript NM_007345 NP_031371 Q9UL36 ZN236_HUMAN Homo sapiens zinc finger protein 236 (ZNF236), mRNA. 1649 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCCGGGCAACCAGCCAGAGAA 0.607000 23 5 8.12818e-05 0.000798188 8.12818e-05 1 0 CXorf23 256643 broad.mit.edu 37 X 19983592 19983592 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:19983592G>A uc004czp.3 - 2 844 c.844C>T c.(844-846)Cgt>Tgt p.R282C CXorf23_uc011mjg.2_5'UTR|CXorf23_uc004czo.3_Missense_Mutation_p.R232C NM_198279 NP_938020 A2AJT9 CX023_HUMAN Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA. 282 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 CGTTTGTGACGATAGTCATAG 0.453000 26 11 0 0 0.000151284 0 0 ESPL1 9700 broad.mit.edu 37 12 53683916 53683916 + Missense_Mutation SNP G A A rs149892921 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:53683916G>A uc001sck.2 + 22 5252 c.5161G>A c.(5161-5163)Gtg>Atg p.V1721M ESPL1_uc001scj.2_Missense_Mutation_p.V1396M NM_012291 NP_036423 Q14674 ESPL1_HUMAN Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA. 1721 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GCCCGGAACCGTGGGCAACAC 0.587000 18 5 0 0 0.000602214 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988032 154988033 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:154988032_154988033CC>TT uc001fgj.4 + 4 1283_1284 c.998_999CC>TT c.(997-999)tcc>tTT p.S333F ZBTB7B_uc009wpa.3_Missense_Mutation_p.S299F|ZBTB7B_uc001fgk.4_Missense_Mutation_p.S299F|ZBTB7B_uc010peq.2_Missense_Mutation_p.S333F|ZBTB7B_uc001fgl.4_Missense_Mutation_p.S299F NM_015872 NP_056956 O15156 ZBT7B_HUMAN Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA. 299 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCCCCGCTGTCCCCAGAGGAGC 0.634000 47 5 0 0 6.4e-05 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1994178 1994178 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:1994178C>T uc021qsx.1 - 9 1364 c.1133G>A c.(1132-1134)aGa>aAa p.R378K CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.R294K NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 378 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GAAGGCTTCTCTCAGGGCTTG 0.597000 127 20 0 0 0.00047179 0 0 MAP1A 4130 broad.mit.edu 37 15 43819178 43819178 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:43819178C>T uc001zrt.3 + 3 5974 c.5507C>T c.(5506-5508)cCc>cTc p.P1836L NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 1836 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCCACTACTCCCTCATGGCTG 0.612000 69 8 0 0 0.000274275 0 0 MIOS 54468 broad.mit.edu 37 7 7628179 7628179 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:7628179C>T uc003srf.3 + 7 2177 c.1869C>T c.(1867-1869)ttC>ttT p.F623F MIOS_uc003srg.3_Silent_p.F158F|MIOS_uc010ktq.3_Missense_Mutation_p.S21F NM_019005 NP_061878 Q9NXC5 MIO_HUMAN Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA. 623 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTTGTAAATTCCTTAGTGATA 0.328000 13 18 0 0 0.000295444 0 0 EVX2 344191 broad.mit.edu 37 2 176948300 176948300 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:176948300C>T uc010zeu.2 - 0 391 c.205G>A c.(205-207)Ggc>Agc p.G69S NM_001080458 NP_001073927 Q03828 EVX2_HUMAN Homo sapiens even-skipped homeobox 2 (EVX2), mRNA. 69 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) TCGAATTTGCCCTTGGCGGGG 0.632000 70 31 0 0 0.000339439 0 0 FARSA 2193 broad.mit.edu 37 19 13041110 13041110 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:13041110G>A uc002mvs.2 - 3 478 c.430C>T c.(430-432)Cgg>Tgg p.R144W FARSA_uc010xmv.1_Missense_Mutation_p.R144W NM_004461 NP_004452 Q9Y285 SYFA_HUMAN Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA. 144 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding p.R144W(2)|p.R144R(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) TGTCCCCCCCGGACCAGCTGG 0.652000 39 9 0 0 0.000442599 0 0 GNPDA2 132789 broad.mit.edu 37 4 44724174 44724174 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:44724174G>A uc003gwy.3 - 1 208 c.51C>T c.(49-51)gcC>gcT p.A17A GNPDA2_uc010iga.3_Silent_p.A17A|GNPDA2_uc011bzb.2_Intron|GNPDA2_uc003gwz.1_Silent_p.A17A NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA. 17 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity endometrium(2)|large_intestine(1)|lung(7)|ovary(1) 11 AGATGTATTTGGCTGCCCATT 0.388000 19 10 0 0 0.000673444 0 0 CYP2C19 1557 broad.mit.edu 37 10 96447594 96447594 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:96447594G>A uc001kjv.4 + 1 562 c.236G>A c.(235-237)gGa>gAa p.G79E CYP2C19_uc001kjw.4_Missense_Mutation_p.G79E|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 79 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 p.G79E(1)|p.G79V(1)|p.G79*(1) 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) GTGTTGCATGGATATGAAGCA 0.423000 23 4 0 0 3.59834e-05 0 0 FBXW10 10517 broad.mit.edu 37 17 18673257 18673257 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:18673257C>T uc002gul.3 + 9 2184 c.1952C>T c.(1951-1953)tCc>tTc p.S651F FBXW10_uc002guj.3_Missense_Mutation_p.S622F|FBXW10_uc002guk.3_Missense_Mutation_p.S622F|FBXW10_uc010cqh.2_Intron NM_031456 NP_113644 Q5XX13 FBW10_HUMAN Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA. 622 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 CTCGACGTGTCCCTTCTCTTC 0.507000 137 30 0 0 0.000409698 0 0 MYH4 4622 broad.mit.edu 37 17 10360795 10360795 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:10360795C>T uc002gmn.3 - 15 1950 c.1839G>A c.(1837-1839)caG>caA p.Q613Q AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 613 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGCAGACTTCTGGTACAGCC 0.498000 15 5 0 0 0.000602214 0 0 BPIFC 254240 broad.mit.edu 37 22 32833812 32833812 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:32833812G>A uc003amn.2 - 6 682 c.682C>T c.(682-684)Ctg>Ttg p.L228L BPIFC_uc010gwo.2_Silent_p.L42L|BPIFC_uc011amb.1_5'UTR NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN Homo sapiens BPI fold containing family C (BPIFC), mRNA. 228 extracellular region lipopolysaccharide binding|phospholipid binding TAATCCAGCAGAGTGTAGTTG 0.343000 19 11 0 0 0.000673444 0 0 AMY2B 280 broad.mit.edu 37 1 104115776 104115776 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:104115776C>T uc010ouo.2 + 14 2111 c.407C>T c.(406-408)cCt>cTt p.P136L AMY2B_uc001duq.3_Missense_Mutation_p.P136L|AMY2B_uc001dur.3_Missense_Mutation_p.P136L|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA. 136 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TACTTCAACCCTGGAAGTAGG 0.408000 108 45 0 0 0.000781405 0 0 COL6A2 1292 broad.mit.edu 37 21 47531410 47531410 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:47531410C>T uc002zia.1 + 1 102 c.20C>T c.(19-21)tCc>tTc p.S7F COL6A2_uc002zhz.1_Missense_Mutation_p.S7F|COL6A2_uc002zhy.1_Missense_Mutation_p.S7F NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 7 axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGCACCTGCTCCGTGCTCCTG 0.657000 48 8 0 0 0.000157383 0 0 VENTX 27287 broad.mit.edu 37 10 135053799 135053799 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:135053799G>A uc010quy.1 + 2 777 c.766G>A c.(766-768)Gat>Aat p.D256N NM_014468 NP_055283 O95231 VENTX_HUMAN Homo sapiens VENT homeobox (VENTX), mRNA. 256 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D256H(2) NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) ACAGACGGGGGATGCATTTTG 0.647000 29 8 0 0 0.000442599 0 0 RHCG 51458 broad.mit.edu 37 15 90023616 90023616 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:90023616C>T uc002bnz.2 - 3 570 c.546G>A c.(544-546)atG>atA p.M182I RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Missense_Mutation_p.M66I NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Homo sapiens Rh family, C glycoprotein (RHCG), mRNA. 182 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) TGTGGATGGTCATGGAGCCTC 0.577000 130 13 0 0 0.000151284 0 0 OR2T12 127064 broad.mit.edu 37 1 248458452 248458452 + Silent SNP G T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:248458452G>T uc010pzj.2 - 0 429 c.429C>A c.(427-429)acC>acA p.T143T NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T143T(2) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 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;0.0201) AGGACGACATGGTCATCCTCA 0.587000 42 13 1.5739e-10 1.55689e-09 0.000422831 1 0 RPS6KA1 6195 broad.mit.edu 37 1 26881656 26881656 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:26881656G>A uc001bmr.1 + 9 934 c.771G>A c.(769-771)acG>acA p.T257T RPS6KA1_uc010ofe.1_Silent_p.T165T|RPS6KA1_uc010off.1_Silent_p.T241T|RPS6KA1_uc001bms.1_Silent_p.T266T|RPS6KA1_uc009vsl.1_Silent_p.T100T NM_002953 NP_002944 Q15418 KS6A1_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA. 257 Protein kinase 1. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.T266T(1) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AGATGCTGACGGGCTCCCTGC 0.592000 51 6 0 0 8.12818e-05 0 0 GTF3C1 2975 broad.mit.edu 37 16 27499675 27499675 + Nonsense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:27499675C>T uc002dov.2 - 22 3613 c.3573G>A c.(3571-3573)tgG>tgA p.W1191* GTF3C1_uc002dou.3_Nonsense_Mutation_p.W1191* NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1191 transcription factor TFIIIC complex DNA binding|protein binding p.G1190C(1) breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ACTGCTCTTCCCAGCCAGCAC 0.562000 190 36 0 0 0.000228196 0 0 MYH3 4621 broad.mit.edu 37 17 10551931 10551931 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:10551931G>A uc002gmq.2 - 7 766 c.678C>T c.(676-678)ccC>ccT p.P226P NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 226 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCTCCAGCAGGGGATTGGCAC 0.443000 69 19 0 0 0.000375601 0 0 DISP1 84976 broad.mit.edu 37 1 223176758 223176759 + Missense_Mutation DNP CC AA AA rs150357097 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:223176758_223176759CC>AA uc001hnu.2 + 9 2345_2346 c.2019_2020CC>AA c.(2017-2022)ccccag>ccAAag p.Q674K NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 674 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TCAAAAAGCCCCAGCAGCAAAT 0.411000 389 12 0 0 6.4e-05 0 0 ARID1A 8289 broad.mit.edu 37 1 27088683 27088683 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:27088683C>T uc001bmv.1 + 6 2665 c.2292C>T c.(2290-2292)tcC>tcT p.S764S ARID1A_uc001bmt.1_Silent_p.S764S|ARID1A_uc001bmu.1_Silent_p.S764S|ARID1A_uc001bmw.1_Silent_p.S381S NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 764 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGTACAGTTCCCCCCAGCCCG 0.527000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 79 34 0 0 0.00111076 0 0 C7orf42 55069 broad.mit.edu 37 7 66406954 66406954 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:66406954C>T uc003tvk.3 + 1 366 c.102C>T c.(100-102)ttC>ttT p.F34F C7orf42_uc010lah.3_Non-coding_Transcript NM_017994 NP_060464 Q9NWD8 CG042_HUMAN Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA. 34 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 17 CCATAGCTTTCCTGACCCTGG 0.527000 96 11 0 0 0.00010058 0 0 DOPEY2 9980 broad.mit.edu 37 21 37605107 37605107 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:37605107G>A uc002yvg.3 + 14 2435 c.2356G>A c.(2356-2358)Ggt>Agt p.G786S DOPEY2_uc011aeb.2_Missense_Mutation_p.G786S NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 786 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTCAGGAGCCGGTGATTCCAG 0.532000 106 20 0 0 0.000295444 0 0 CP 1356 broad.mit.edu 37 3 148939460 148939460 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:148939460C>T uc003ewy.4 - 0 373 c.120G>A c.(118-120)ggG>ggA p.G40G CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Silent_p.G40G NM_000096 NP_000087 P00450 CERU_HUMAN Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. 40 F5/8 type A 1.|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GTTTCTTTTCCCCATGGTCAG 0.323000 37 5 0 0 0.000274275 0 0 CPA1 1357 broad.mit.edu 37 7 130027771 130027771 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:130027771C>T uc003vpx.3 + 9 1251 c.1179C>T c.(1177-1179)gcC>gcT p.A393A NM_001868 NP_001859 P15085 CBPA1_HUMAN Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA. 393 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) TGCTGCCAGCCTCCCAGATCA 0.587000 155 51 0 0 0.000781405 0 0 KCNN3 3782 broad.mit.edu 37 1 154744469 154744469 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:154744469G>A uc021pah.1 - 2 1744 c.1430C>T c.(1429-1431)aCc>aTc p.T477I KCNN3_uc001ffo.3_Missense_Mutation_p.T172I|KCNN3_uc001ffp.3_Missense_Mutation_p.T477I|KCNN3_uc009wox.1_Missense_Mutation_p.T477I NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 482 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GACACGGACGGTCCAGGCAGC 0.547000 79 8 0 0 0.000673444 0 0 GDF15 9518 broad.mit.edu 37 19 18497249 18497249 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:18497249C>T uc002niv.2 + 0 282 c.250C>T c.(250-252)Cct>Tct p.P84S MIR3189_uc021uqo.1_5'Flank NM_004864 NP_004855 Q99988 GDF15_HUMAN Homo sapiens growth differentiation factor 15 (GDF15), mRNA. 84 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 CGTCCCGGCCCCTGCAGTCCG 0.577000 27 5 0 0 0.000602214 0 0 FAM5C 339479 broad.mit.edu 37 1 190067904 190067904 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:190067904G>A uc001gse.1 - 7 1777 c.1545C>T c.(1543-1545)atC>atT p.I515I FAM5C_uc010pot.1_Silent_p.I413I NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 515 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGTCATTGCTGATAAAAATGG 0.453000 117 58 0 0 0.000781405 0 0 MAML3 55534 broad.mit.edu 37 4 140810834 140810835 + Missense_Mutation DNP CC AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:140810834_140810835CC>AA uc021xsg.1 - 1 2507_2508 c.1755_1756GG>TT c.(1753-1758)ttgggt>ttTTgt p.585_586LG>FC MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA. 581 Asn-rich.|Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GAGTTTGTACCCAAGTTATTTG 0.431000 518 14 0 0 6.4e-05 0 0 SSPO 23145 broad.mit.edu 37 7 149521519 149521519 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:149521519C>T uc010lpk.3 + 94 13589 c.13589C>T c.(13588-13590)cCc>cTc p.P4530L SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 4533 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGTGGTCGCCCTGTGGGCCC 0.687000 15 4 0 0 0.000602214 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500269 48500269 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:48500269C>T uc001zwn.4 + 1 569 c.353C>T c.(352-354)aCc>aTc p.T118I SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.3_Missense_Mutation_p.T118I|SLC12A1_uc010uex.2_Missense_Mutation_p.T118I NM_000338 NP_000329 Q13621 S12A1_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA. 118 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TATCGTAACACCGGCAGCATC 0.488000 43 5 0 0 3.59834e-05 0 0 MOV10 4343 broad.mit.edu 37 1 113238833 113238833 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:113238833G>A uc001eck.3 + 11 2113 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.E615K|MOV10_uc001ecm.3_Missense_Mutation_p.E555K|MOV10_uc009wgj.1_Missense_Mutation_p.E555K NM_001130079 NP_066014 Q9HCE1 MOV10_HUMAN Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA. 615 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|RNA binding|helicase activity|protein binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GAAGCTGCAGGAATACCGGGT 0.537000 33 33 0 0 0.000319135 0 0 CITED1 4435 broad.mit.edu 37 X 71521587 71521587 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:71521587G>A uc011mqc.2 - 3 844 c.646C>T c.(646-648)Cca>Tca p.P216S CITED1_uc011mqd.2_Missense_Mutation_p.P190S|CITED1_uc004eas.3_Missense_Mutation_p.P190S|CITED1_uc004eat.3_Missense_Mutation_p.P190S NM_001144885 NP_004134 Q99966 CITE1_HUMAN Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1), transcript variant 2, mRNA. 190 SMAD protein signal transduction|apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of Wnt receptor signaling pathway|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway cytosol|nucleus LBD domain binding|chromatin binding|co-SMAD binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding skin(1) 1 Renal(35;0.156) CAGCTAGATGGAAAGTCCGCA 0.483000 28 18 0 0 0.000295444 0 0 PCDHB6 56130 broad.mit.edu 37 5 140532155 140532155 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:140532155C>T uc003lir.3 + 0 2317 c.2317C>T c.(2317-2319)Cct>Tct p.P773S NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 773 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCAACTTCCCTCCTCAGGG 0.483000 72 21 0 0 0.000229342 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:95522815A>G uc010fhp.3 - 0 c.6T>C Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 ATCTTCTGCAATTCGGAGTCC 0.652000 103 5 0 0 0.000602214 0 0 PTH2R 5746 broad.mit.edu 37 2 209358320 209358320 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:209358320C>T uc010zjb.2 + 12 1908 c.1622C>T c.(1621-1623)tCc>tTc p.S541F PTH2R_uc002vdb.3_Missense_Mutation_p.S530F|PTH2R_uc010fuo.1_Intron NM_005048 NP_005039 P49190 PTH2R_HUMAN Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA. 530 integral to plasma membrane parathyroid hormone receptor activity p.G541*(1) 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) GAGAAGCCTTCCAGGCCTATG 0.502000 76 27 0 0 0.000720815 0 0 SLC16A3 9123 broad.mit.edu 37 17 80196792 80196792 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:80196792C>T uc002kea.3 + 4 1488 c.1338C>T c.(1336-1338)ttC>ttT p.F446F SLC16A3_uc021ufm.1_Silent_p.F446F|SLC16A3_uc002keb.3_Silent_p.F446F|SLC16A3_uc002kec.3_Silent_p.F446F|SLC16A3_uc002ked.3_Silent_p.F446F|SLC16A3_uc021ufn.1_Silent_p.F446F|SLC16A3_uc021ufo.1_Silent_p.F446F NM_001042422 NP_004198 O15427 MOT4_HUMAN Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA. 446 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TGGAGCATTTCCTGAAGGCTG 0.642000 73 64 0 0 0.000781405 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136323178 136323178 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:136323178G>A uc004cdv.4 + 27 4483 c.4039G>A c.(4039-4041)Ggc>Agc p.G1347S ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.G1291S|ADAMTS13_uc004cdu.1_Missense_Mutation_p.G1260S|ADAMTS13_uc004cdw.4_Missense_Mutation_p.G1291S|ADAMTS13_uc004cdx.4_Missense_Mutation_p.G1260S|ADAMTS13_uc004cdz.4_Missense_Mutation_p.G1017S|ADAMTS13_uc004cea.1_3'UTR|ADAMTS13_uc004ceb.4_Missense_Mutation_p.G143S|CACFD1_uc011mdg.1_5'Flank|CACFD1_uc011mdi.1_5'Flank|CACFD1_uc004cec.2_5'Flank|CACFD1_uc010nan.2_5'Flank|CACFD1_uc011mdh.1_5'Flank NM_139025 NP_620594 Q76LX8 ATS13_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA. 1347 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CACCAACATGGGCGCTGGGAC 0.617000 33 7 0 0 8.12818e-05 0 0 PTPRS 5802 broad.mit.edu 37 19 5238961 5238961 + Silent SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:5238961G>A uc002mbv.3 - 12 2052 c.1818C>T c.(1816-1818)acC>acT p.T606T PTPRS_uc002mbu.1_Silent_p.T593T|PTPRS_uc010xin.2_Silent_p.T593T|PTPRS_uc002mbw.3_Silent_p.T593T|PTPRS_uc002mbx.3_Silent_p.T597T|PTPRS_uc002mby.3_Silent_p.T593T NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 606 Fibronectin type-III 3. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCACCACGGGGGTGAAGGCGC 0.721000 38 15 0 0 0.000219431 0 0 PARP10 84875 broad.mit.edu 37 8 145057685 145057685 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:145057685G>A uc003zal.4 - 7 2180 c.2072C>T c.(2071-2073)cCc>cTc p.P691L PARP10_uc003zak.4_Missense_Mutation_p.P388L|PARP10_uc011lku.2_Missense_Mutation_p.P703L|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.P682L NM_032789 NP_116178 Q53GL7 PAR10_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA. 691 Glu-rich. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTCCAACGGGGGCTGCTCCAG 0.672000 17 4 0 0 3.59834e-05 0 0 ZNF845 91664 broad.mit.edu 37 19 53855012 53855012 + Missense_Mutation SNP A G G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:53855012A>G uc010ydv.1 + 3 1201 c.1084A>G c.(1084-1086)Aaa>Gaa p.K362E ZNF845_uc010ydw.1_Missense_Mutation_p.K362E NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AGAATGTGACAAAGCTTTCAG 0.388000 22 3 0 0 6.4e-05 0 0 KRT36 8689 broad.mit.edu 37 17 39646023 39646023 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:39646023G>A uc002hwt.3 - 0 94 c.94C>T c.(94-96)Cgt>Tgt p.R32C NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 32 Head. intermediate filament protein binding|structural constituent of epidermis p.R32C(2) breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) CCCACAGAACGGATGGAGGAC 0.637000 46 8 0 0 0.000157383 0 0 TULP1 7287 broad.mit.edu 37 6 35478663 35478663 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:35478663C>T uc003okv.4 - 4 486 c.474G>A c.(472-474)agG>agA p.R158R TULP1_uc003okw.4_Silent_p.R105R|TULP1_uc021yyx.1_Silent_p.R158R|TULP1_uc021yyy.1_Silent_p.R158R NM_003322 NP_003313 O00294 TULP1_HUMAN Homo sapiens tubby like protein 1 (TULP1), mRNA. 158 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 CCTTGGCCCTCCTCTCCTTCA 0.597000 92 22 0 0 0.000295444 0 0 PRC1 9055 broad.mit.edu 37 15 91525064 91525065 + Missense_Mutation DNP GG TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:91525064_91525065GG>TT uc002bqm.3 - 3 571_572 c.414_415CC>AA c.(412-417)ccccac>ccAAac p.H139N PRC1_uc002bqn.3_Missense_Mutation_p.H139N|PRC1_uc002bqo.3_Missense_Mutation_p.H139N|PRC1_uc010uqs.2_Missense_Mutation_p.H98N|PRC1_uc010uqt.1_Missense_Mutation_p.H87N NM_003981 NP_003972 O43663 PRC1_HUMAN Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA. 139 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) ATATCATAGTGGGGCATACAAA 0.441000 749 19 0 0 6.4e-05 0 0 ITGB8 3696 broad.mit.edu 37 7 20418758 20418758 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:20418758C>T uc003suu.3 + 3 1178 c.473C>T c.(472-474)tCa>tTa p.S158L ITGB8_uc011jyh.2_Missense_Mutation_p.S23L|ITGB8_uc003sut.3_Missense_Mutation_p.S158L NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 158 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GTCTCAGCATCAATGCACAAT 0.348000 94 13 0 0 0.00010058 0 0 THBS3 7059 broad.mit.edu 37 1 155169793 155169793 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:155169793G>A uc001fix.3 - 14 1925 c.1820C>T c.(1819-1821)cCt>cTt p.P607L THBS3_uc021pat.1_Missense_Mutation_p.P4L|THBS3_uc010pfu.2_Missense_Mutation_p.P487L|THBS3_uc009wqi.3_Missense_Mutation_p.P598L|THBS3_uc001fiy.3_Missense_Mutation_p.P136L|THBS3_uc010pfv.2_Non-coding_Transcript NM_007112 NP_009043 P49746 TSP3_HUMAN Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA. 607 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TACCTGGGTAGGATTGCTCAT 0.552000 115 13 0 0 0.000219431 0 0 EPHA8 2046 broad.mit.edu 37 1 22903359 22903359 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:22903359G>A uc001bfx.1 + 2 934 c.809G>A c.(808-810)cGg>cAg p.R270Q EPHA8_uc001bfw.3_Missense_Mutation_p.R270Q NM_020526 NP_065387 P29322 EPHA8_HUMAN Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. 270 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAGGAGCGGCGGGATGCCTGT 0.677000 28 7 0 0 0.000157383 0 0 FAM114A2 10827 broad.mit.edu 37 5 153414364 153414364 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:153414364C>T uc003lvd.3 - 2 292 c.150G>A c.(148-150)cgG>cgA p.R50R FAM114A2_uc003lvb.3_Silent_p.R50R|FAM114A2_uc003lve.3_5'UTR|FAM114A2_uc011dda.2_Intron|FAM114A2_uc003lvc.3_Silent_p.R50R NM_018691 NP_061161 Q9NRY5 F1142_HUMAN Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA. 50 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 CTGGTCTTTTCCGAGTGGAAA 0.433000 89 16 0 0 0.000958276 0 0 NLRP3 114548 broad.mit.edu 37 1 247587649 247587649 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:247587649G>A uc001icr.3 + 4 1042 c.904G>A c.(904-906)Gac>Aac p.D302N NLRP3_uc001ics.3_Missense_Mutation_p.D302N|NLRP3_uc001icu.3_Missense_Mutation_p.D302N|NLRP3_uc001icw.3_Missense_Mutation_p.D302N|NLRP3_uc001icv.3_Missense_Mutation_p.D302N|NLRP3_uc010pyw.2_Missense_Mutation_p.D300N|NLRP3_uc001ict.1_Missense_Mutation_p.D300N NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 302 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CTTCCTCATGGACGGCTTCGA 0.587000 83 18 0 0 0.000175454 0 0 DSP 1832 broad.mit.edu 37 6 7585419 7585419 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:7585419G>A uc003mxp.1 + 23 8203 c.7924G>A c.(7924-7926)Gtt>Att p.V2642I DSP_uc003mxq.1_Missense_Mutation_p.V2043I|DSP_uc021yle.1_Missense_Mutation_p.V2199I NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2642 Globular 2. 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) GCGGGGCATCGTTGACAGCAT 0.537000 100 26 0 0 0.000184323 0 0 TCP11L1 55346 broad.mit.edu 37 11 33065476 33065476 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:33065476C>T uc001mud.3 + 1 557 c.157C>T c.(157-159)Cct>Tct p.P53S TCP11L1_uc009yju.3_5'UTR|TCP11L1_uc010rei.2_Missense_Mutation_p.P53S|TCP11L1_uc001mue.3_Missense_Mutation_p.P53S NM_018393 NP_060863 Q9NUJ3 T11L1_HUMAN Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA. 53 kidney(1)|liver(2)|lung(2)|skin(1) 6 AGTGCAGAGACCTCACTGTAA 0.468000 64 27 0 0 0.00106085 0 0 SENP2 59343 broad.mit.edu 37 3 185337175 185337175 + Missense_Mutation SNP C A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:185337175C>A uc003fpn.3 + 12 1502 c.1331C>A c.(1330-1332)cCt>cAt p.P444H SENP2_uc011brv.2_Missense_Mutation_p.P434H|SENP2_uc011brw.2_Missense_Mutation_p.P257H NM_021627 NP_067640 Q9HC62 SENP2_HUMAN Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA. 444 Protease. Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport cytoplasm|nuclear membrane|nuclear pore SUMO-specific protease activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TTCTTCTATCCTAAATTAAAG 0.368000 656 16 0.000566183 0.00554983 0.000566183 1 0 MTNR1B 4544 broad.mit.edu 37 11 92715239 92715239 + Nonsense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:92715239C>T uc001pdk.1 + 1 953 c.850C>T c.(850-852)Cag>Tag p.Q284* NM_005959 NP_005950 P49286 MTR1B_HUMAN Homo sapiens melatonin receptor 1B (MTNR1B), mRNA. 284 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AATGGCTCCCCAGATCCCTGA 0.502000 236 140 0 0 0.000781405 0 0 RTP1 132112 broad.mit.edu 37 3 186915469 186915469 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:186915469G>A uc003frg.3 + 0 196 c.166G>A c.(166-168)Gag>Aag p.E56K NM_153708 NP_714919 P59025 RTP1_HUMAN Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA. 56 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GAAGATGGAGGAGGCAAAGCC 0.507000 34 15 0 0 0.000566183 0 0 HYDIN 54768 broad.mit.edu 37 16 70989289 70989289 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:70989289C>T uc002ezr.3 - 39 6453 c.6302G>A c.(6301-6303)gGa>gAa p.G2101E NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2102 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGCCTCCTCTCCTTCCTTCAC 0.567000 21 8 0 0 0.000274275 0 0 FBXW10 10517 broad.mit.edu 37 17 18682444 18682444 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:18682444G>A uc002gul.3 + 11 3251 c.3019G>A c.(3019-3021)Gaa>Aaa p.E1007K FBXW10_uc002guj.3_Missense_Mutation_p.E997K|FBXW10_uc002guk.3_Missense_Mutation_p.E998K|FBXW10_uc010cqh.2_Missense_Mutation_p.E945K|FAM18B1_uc002gum.2_5'Flank NM_031456 NP_113644 Q5XX13 FBW10_HUMAN Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA. 998 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GGAGCACCAGGAAGCCAAGAT 0.502000 71 17 0 0 0.00074312 0 0 RREB1 6239 broad.mit.edu 37 6 7231149 7231149 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:7231149C>T uc003mxb.3 + 9 3309 c.2817C>T c.(2815-2817)atC>atT p.I939I RREB1_uc021yky.1_Silent_p.I939I|RREB1_uc003mxc.3_Silent_p.I939I|RREB1_uc010jnx.3_Silent_p.I939I|RREB1_uc021ykz.1_Silent_p.I939I|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 939 Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ACCTGTCCATCCCCAAGAACT 0.602000 28 5 0 0 0.000602214 0 0 FMO2 2327 broad.mit.edu 37 1 171154965 171154965 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:171154965G>A uc001ghk.1 + 1 230 c.113G>A c.(112-114)gGa>gAa p.G38E FMO2_uc010pmd.1_Intron NM_001460 NP_001451 Q99518 FMO2_HUMAN Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA. 38 NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAAGATATTGGAGGAGTGTGG 0.453000 35 5 0 0 3.59834e-05 0 0 EIF4H 7458 broad.mit.edu 37 7 73604036 73604036 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:73604036C>T uc003uad.1 + 2 289 c.281C>T c.(280-282)tCc>tTc p.S94F EIF4H_uc011kfg.1_Missense_Mutation_p.S94F|EIF4H_uc003uae.1_Missense_Mutation_p.S94F|MIR590_uc022afx.1_5'Flank NM_022170 NP_071496 Q15056 IF4H_HUMAN Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA. 94 RRM. interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 GAAGTGGATTCCCTTAAGGAA 0.398000 60 11 0 0 0.000673444 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428646 190428646 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:190428646C>T uc002uqp.4 - 6 1417 c.1066G>A c.(1066-1068)Gga>Aga p.G356R NM_014585 NP_055400 Q9NP59 S40A1_HUMAN Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA. 356 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) GCTACAGTTCCCATTATTCCA 0.473000 11 9 0 0 0.000274275 0 0 CCT6A 908 broad.mit.edu 37 7 56128511 56128511 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:56128511C>T uc003trl.1 + 10 1389 c.1225C>T c.(1225-1227)Cca>Tca p.P409S PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.P364S|CCT6A_uc011kcu.1_Missense_Mutation_p.P378S NM_001762 NP_001753 P40227 TCPZ_HUMAN Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA. 409 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTGTGTGGTTCCAGGTGCTGG 0.438000 55 22 0 0 0.000720815 0 0 NOX5 79400 broad.mit.edu 37 15 69335039 69335040 + Nonsense_Mutation DNP GG AA AA TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:69335039_69335040GG>AA uc002ars.2 + 9 1582_1583 c.1541_1542GG>AA c.(1540-1542)tgg>tAA p.W514* MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.W468*|NOX5_uc002arp.2_Nonsense_Mutation_p.W496*|NOX5_uc010bid.2_Nonsense_Mutation_p.W479*|NOX5_uc010bie.2_Nonsense_Mutation_p.W314*|NOX5_uc002arr.2_Nonsense_Mutation_p.W486*|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 514 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CAAGGCCAGTGGACAAACAGGC 0.545000 32 11 0 0 6.4e-05 0 0 GRM4 2914 broad.mit.edu 37 6 34101042 34101042 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:34101042G>A uc003oir.4 - 0 595 c.232C>T c.(232-234)Cgg>Tgg p.R78W GRM4_uc011dsn.2_Missense_Mutation_p.R78W|GRM4_uc010jvh.3_Missense_Mutation_p.R78W|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_5'UTR NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 78 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GCCTCCAGCCGGTGGATGCCC 0.617000 31 8 0 0 0.000157383 0 0 FASTKD2 22868 broad.mit.edu 37 2 207651540 207651540 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:207651540C>T uc002vbu.3 + 7 1921 c.1511C>T c.(1510-1512)tCa>tTa p.S504L FASTKD2_uc002vbv.3_Missense_Mutation_p.S504L|FASTKD2_uc002vbx.3_Missense_Mutation_p.S504L|FASTKD2_uc002vbw.1_Missense_Mutation_p.S504L NM_001136193 NP_055744 Q9NYY8 FAKD2_HUMAN Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA. 504 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) GCAGTATATTCATTTTGCTTG 0.403000 23 15 0 0 0.000219431 0 0 KIAA0947 23379 broad.mit.edu 37 5 5462223 5462224 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:5462223_5462224CC>TT uc003jdm.4 + 12 2998_2999 c.2776_2777CC>TT c.(2776-2778)cca>TTa p.P926L NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 926 p.P926Q(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AAGCATTTCACCAGAAGTTTCT 0.396000 41 13 0 0 6.4e-05 0 0 MTUS2 23281 broad.mit.edu 37 13 29600487 29600487 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:29600487C>T uc001usl.4 + 0 1740 c.1682C>T c.(1681-1683)cCc>cTc p.P561L NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 551 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CCTACAACACCCAGTAGCAGT 0.512000 46 9 0 0 0.000673444 0 0 HELZ 9931 broad.mit.edu 37 17 65174871 65174871 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:65174871G>A uc010wqk.2 - 12 1521 c.1334C>T c.(1333-1335)tCc>tTc p.S445F HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.S445F NM_014877 NP_055692 Homo sapiens helicase with zinc finger (HELZ), mRNA. NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GTCTAAAACGGACTGAGTAAA 0.373000 68 37 0 0 0.000228196 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050328 42050328 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:42050328C>T uc001cgz.4 - 3 1354 c.141G>A c.(139-141)gaG>gaA p.E47E HIVEP3_uc001cha.4_Silent_p.E47E|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 47 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGCGGGGCTCTCTTGGGTGG 0.632000 139 46 0 0 0.000781405 0 0 RASIP1 54922 broad.mit.edu 37 19 49243482 49243482 + Missense_Mutation SNP G A A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:49243482G>A uc002pki.3 - 1 255 c.58C>T c.(58-60)Ccc>Tcc p.P20S NM_017805 NP_060275 Q5U651 RAIN_HUMAN Homo sapiens Ras interacting protein 1 (RASIP1), mRNA. 20 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) AGGCCCACGGGGAGATGAAGC 0.637000 48 12 0 0 0.000151284 0 0 PHF15 23338 broad.mit.edu 37 5 133895560 133895560 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:133895560C>T uc003kzk.2 + 4 438 c.400C>T c.(400-402)Ccg>Tcg p.P134S PHF15_uc011cxt.1_Missense_Mutation_p.P118S|PHF15_uc003kzl.2_Missense_Mutation_p.P118S|PHF15_uc003kzm.2_Missense_Mutation_p.P118S|PHF15_uc003kzn.2_Missense_Mutation_p.P118S|PHF15_uc003kzo.1_Missense_Mutation_p.P118S NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN Homo sapiens PHD finger protein 15 (PHF15), mRNA. 118 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAGGCATCCCCGAGCAGCAC 0.617000 30 9 0 0 0.000274275 0 0 CLEC6A 93978 broad.mit.edu 37 12 8612252 8612252 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:8612252C>T uc001qum.1 + 2 298 c.181C>T c.(181-183)Cat>Tat p.H61Y NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA. 61 defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) ACACTCATATCATTCAAGTCT 0.373000 54 21 0 0 0.000375601 0 0 FCHSD1 89848 broad.mit.edu 37 5 141025397 141025397 + Missense_Mutation SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:141025397C>T uc003llk.3 - 12 1303 c.1252G>A c.(1252-1254)Gtg>Atg p.V418M FCHSD1_uc010jgg.3_Missense_Mutation_p.V101M|FCHSD1_uc003llj.3_Non-coding_Transcript NM_033449 NP_258260 Q86WN1 FCSD1_HUMAN Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA. 418 FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGCTCCACCTCATCCTGG 0.657000 8 4 0 0 0.000602214 0 0 FGD5 152273 broad.mit.edu 37 3 14964555 14964555 + Silent SNP C T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:14964555C>T uc003bzc.3 + 15 3920 c.3810C>T c.(3808-3810)atC>atT p.I1270I FGD5_uc011avk.2_Silent_p.I1270I|FGD5_uc003bzd.3_Silent_p.I348I NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 1270 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GCCTGCAGATCGTGTGCCGGA 0.607000 55 15 0 0 0.000422831 0 0 MCOLN2 255231 broad.mit.edu 37 1 85422148 85422149 + Frame_Shift_Ins INS - T T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:85422148_85422149insT uc001dkm.3 - 3 771_772 c.530_531insA c.(529-531)aatfs p.N177fs MCOLN2_uc001dkn.3_Non-coding_Transcript NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN Homo sapiens mucolipin 2 (MCOLN2), mRNA. 177 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TCAGTGTCTCATTAGAAGGAAA 0.406 --- 57 --- --- 10 --- ANKRD36 375248 broad.mit.edu 37 2 97875580 97875580 + Frame_Shift_Del DEL A - - TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:97875580delA uc010yva.2 + 55 3582 c.3338delA c.(3337-3339)gaafs p.E1113fs NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. 1113 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 ATAGCCAGAGAAAAAAAGGAT 0.323 --- 4 --- --- 2 --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT - - TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:73123425_73123427delCAT uc003tyx.3 - 1 112_114 c.56_58delATG c.(55-60)gatgtc>gtc p.D19del STX1A_uc003tyy.3_In_Frame_Del_p.D19del|STX1A_uc010lbj.2_In_Frame_Del_p.D19del|MIR4284_uc022afw.1_5'Flank NM_004603 NP_004594 Q16623 STX1A_HUMAN Homo sapiens syntaxin 1A (brain) (STX1A), transcript variant 1, mRNA. 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 --- 218 --- --- 8 --- ITIH5 80760 broad.mit.edu 37 10 7618686 7618686 + Frame_Shift_Del DEL T - - rs2275069 byFrequency TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:7618686delT uc021pmv.1 - 9 1814 c.1708delA c.(1708-1710)accfs p.T570fs ITIH5_uc021pmu.1_Frame_Shift_Del_p.T356fs|ITIH5_uc001ijr.2_Frame_Shift_Del_p.T570fs NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 570 T -> P (in dbSNP:rs2275069). hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ATGTGGTTGGTGTCCCCCTCT 0.587 --- 38 --- --- 10 --- EBF4 57593 broad.mit.edu 37 20 2686263 2686263 + Frame_Shift_Del DEL C - - TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:2686263delC uc002wgt.4 + 2 434 c.166delC c.(166-168)cccfs p.P56fs EBF4_uc002wgs.4_Non-coding_Transcript NM_001110514 NP_001103984 Q9BQW3 COE4_HUMAN Homo sapiens early B-cell factor 4 (EBF4), mRNA. 60 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding GAAGCAGCCTCCCTCCAACCT 0.587 --- 4 --- --- 2 ---